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Infantile hemangioma: Analysis underscores importance of early propranolol treatment
, results from a post-hoc analysis of phase 2 and 3 clinical trial data showed.
“It is widely accepted that oral propranolol should be started early to improve the success rate, but proposed thresholds have lacked supportive data,” researchers led by Christine Léauté-Labrèze, MD, of the department of dermatology at Pellegrin Children’s Hospital, Bordeaux, France, wrote in the study, which was published online in Pediatric Dermatology. In the pivotal phase 2/3 trial of propranolol of 460 infants, published in 2015, the mean initiation of treatment was 104 days, they added, but “in real-life studies, most infants are referred later than this.”
In addition, a European expert consensus panel set the ideal age for a patient to be seen by a specialist at between 3 and 5 weeks of age, while an American Academy of Pediatrics Clinical Practice Guideline set the ideal age at 1 month.
To determine factors associated with a higher success rate with oral propranolol treatment, such as age at treatment initiation, the researchers analyzed data from the pivotal phase 2-3 clinical trial of oral propranolol in IH. They used Generalized Additive Model (GAM) charts with Generalized Linear Models (GLM), then a rule discovery algorithm, to identify subgroups presenting a high probability of occurrence of the predefined outcome: success at 6 months of treatment (defined as complete or nearly complete resolution of the target hemangioma). Study coauthors were Ilona J. Frieden, MD, of the department of dermatology at the University of California, San Francisco, and director of the UCSF Birthmarks & Vascular Anomalies Center; and Alain Delarue, MD, of medical affairs at Pierre Fabre Dermatologie, Lavaur, France, which markets the pediatric formulation of propranolol approved by the Food and Drug Administration in 2014 for treating IH.
They found that patients who started oral propranolol 3 mg/kg/day before the age of 10 weeks had a success rate of 86%, while those who started treatment after 10 weeks of age had a success rate of 60%. “Our clinical experience suggested that starting early propranolol gave better results on infantile hemangiomas; however, we were surprised” by the significance of the difference, the three study authors stated in an e-mail reply to this news organization.
“It therefore seemed essential to communicate the importance of early treatment to maximize the possibilities of recovery for children. Our findings support early treatment of at-risk infantile hemangiomas, without waiting for complications such as ulceration and/or functional consequences,” they added.
In their e-mail reply, the authors stated that treatment of high-risk IH should be initiated whenever possible before 10 weeks of age. Ideally, infants should be examined by a practitioner between 2 and 5 weeks of age and referred to a specialized center if they have features of an at-risk IH. Tools such as the Infantile Hemangioma Referral Score (IHReS) and consensus guidelines such as the AAP Clinical Practice Guideline “can help guide clinicians seeing newborns and young infants to recognize which IH may need early intervention,” they stated.
For rural-based providers whose patients and their families may not live close to an expert center, the study authors especially recommend using the IHReS scoring tool, which is readily available online and “will be very helpful in assessing whether patients need referral.” For those who do, they added, “triage using photographs is an excellent way to reach out to a referral center for advice and possible urgent referral.” In addition, a recent study emphasized that telemedicine using either live interactive portals or store-and-forward can be helpful in evaluation and management of patients with IH.
Dr. Léauté-Labrèze and colleagues acknowledged certain limitations of the analysis, including the fact that it was performed post-hoc on an existing study and the challenge of translating its findings into clinical practice.
The three study authors were also authors of the 2015 NEJM study; Dr. Léauté-Labrèze was the lead author.
Dr. Léauté-Labrèze disclosed that she has served as a speaker and consultant for Pierre Fabre. Dr. Delarue is an employee of the company. Dr. Frieden reported having no disclosures relevant to the analysis.
, results from a post-hoc analysis of phase 2 and 3 clinical trial data showed.
“It is widely accepted that oral propranolol should be started early to improve the success rate, but proposed thresholds have lacked supportive data,” researchers led by Christine Léauté-Labrèze, MD, of the department of dermatology at Pellegrin Children’s Hospital, Bordeaux, France, wrote in the study, which was published online in Pediatric Dermatology. In the pivotal phase 2/3 trial of propranolol of 460 infants, published in 2015, the mean initiation of treatment was 104 days, they added, but “in real-life studies, most infants are referred later than this.”
In addition, a European expert consensus panel set the ideal age for a patient to be seen by a specialist at between 3 and 5 weeks of age, while an American Academy of Pediatrics Clinical Practice Guideline set the ideal age at 1 month.
To determine factors associated with a higher success rate with oral propranolol treatment, such as age at treatment initiation, the researchers analyzed data from the pivotal phase 2-3 clinical trial of oral propranolol in IH. They used Generalized Additive Model (GAM) charts with Generalized Linear Models (GLM), then a rule discovery algorithm, to identify subgroups presenting a high probability of occurrence of the predefined outcome: success at 6 months of treatment (defined as complete or nearly complete resolution of the target hemangioma). Study coauthors were Ilona J. Frieden, MD, of the department of dermatology at the University of California, San Francisco, and director of the UCSF Birthmarks & Vascular Anomalies Center; and Alain Delarue, MD, of medical affairs at Pierre Fabre Dermatologie, Lavaur, France, which markets the pediatric formulation of propranolol approved by the Food and Drug Administration in 2014 for treating IH.
They found that patients who started oral propranolol 3 mg/kg/day before the age of 10 weeks had a success rate of 86%, while those who started treatment after 10 weeks of age had a success rate of 60%. “Our clinical experience suggested that starting early propranolol gave better results on infantile hemangiomas; however, we were surprised” by the significance of the difference, the three study authors stated in an e-mail reply to this news organization.
“It therefore seemed essential to communicate the importance of early treatment to maximize the possibilities of recovery for children. Our findings support early treatment of at-risk infantile hemangiomas, without waiting for complications such as ulceration and/or functional consequences,” they added.
In their e-mail reply, the authors stated that treatment of high-risk IH should be initiated whenever possible before 10 weeks of age. Ideally, infants should be examined by a practitioner between 2 and 5 weeks of age and referred to a specialized center if they have features of an at-risk IH. Tools such as the Infantile Hemangioma Referral Score (IHReS) and consensus guidelines such as the AAP Clinical Practice Guideline “can help guide clinicians seeing newborns and young infants to recognize which IH may need early intervention,” they stated.
For rural-based providers whose patients and their families may not live close to an expert center, the study authors especially recommend using the IHReS scoring tool, which is readily available online and “will be very helpful in assessing whether patients need referral.” For those who do, they added, “triage using photographs is an excellent way to reach out to a referral center for advice and possible urgent referral.” In addition, a recent study emphasized that telemedicine using either live interactive portals or store-and-forward can be helpful in evaluation and management of patients with IH.
Dr. Léauté-Labrèze and colleagues acknowledged certain limitations of the analysis, including the fact that it was performed post-hoc on an existing study and the challenge of translating its findings into clinical practice.
The three study authors were also authors of the 2015 NEJM study; Dr. Léauté-Labrèze was the lead author.
Dr. Léauté-Labrèze disclosed that she has served as a speaker and consultant for Pierre Fabre. Dr. Delarue is an employee of the company. Dr. Frieden reported having no disclosures relevant to the analysis.
, results from a post-hoc analysis of phase 2 and 3 clinical trial data showed.
“It is widely accepted that oral propranolol should be started early to improve the success rate, but proposed thresholds have lacked supportive data,” researchers led by Christine Léauté-Labrèze, MD, of the department of dermatology at Pellegrin Children’s Hospital, Bordeaux, France, wrote in the study, which was published online in Pediatric Dermatology. In the pivotal phase 2/3 trial of propranolol of 460 infants, published in 2015, the mean initiation of treatment was 104 days, they added, but “in real-life studies, most infants are referred later than this.”
In addition, a European expert consensus panel set the ideal age for a patient to be seen by a specialist at between 3 and 5 weeks of age, while an American Academy of Pediatrics Clinical Practice Guideline set the ideal age at 1 month.
To determine factors associated with a higher success rate with oral propranolol treatment, such as age at treatment initiation, the researchers analyzed data from the pivotal phase 2-3 clinical trial of oral propranolol in IH. They used Generalized Additive Model (GAM) charts with Generalized Linear Models (GLM), then a rule discovery algorithm, to identify subgroups presenting a high probability of occurrence of the predefined outcome: success at 6 months of treatment (defined as complete or nearly complete resolution of the target hemangioma). Study coauthors were Ilona J. Frieden, MD, of the department of dermatology at the University of California, San Francisco, and director of the UCSF Birthmarks & Vascular Anomalies Center; and Alain Delarue, MD, of medical affairs at Pierre Fabre Dermatologie, Lavaur, France, which markets the pediatric formulation of propranolol approved by the Food and Drug Administration in 2014 for treating IH.
They found that patients who started oral propranolol 3 mg/kg/day before the age of 10 weeks had a success rate of 86%, while those who started treatment after 10 weeks of age had a success rate of 60%. “Our clinical experience suggested that starting early propranolol gave better results on infantile hemangiomas; however, we were surprised” by the significance of the difference, the three study authors stated in an e-mail reply to this news organization.
“It therefore seemed essential to communicate the importance of early treatment to maximize the possibilities of recovery for children. Our findings support early treatment of at-risk infantile hemangiomas, without waiting for complications such as ulceration and/or functional consequences,” they added.
In their e-mail reply, the authors stated that treatment of high-risk IH should be initiated whenever possible before 10 weeks of age. Ideally, infants should be examined by a practitioner between 2 and 5 weeks of age and referred to a specialized center if they have features of an at-risk IH. Tools such as the Infantile Hemangioma Referral Score (IHReS) and consensus guidelines such as the AAP Clinical Practice Guideline “can help guide clinicians seeing newborns and young infants to recognize which IH may need early intervention,” they stated.
For rural-based providers whose patients and their families may not live close to an expert center, the study authors especially recommend using the IHReS scoring tool, which is readily available online and “will be very helpful in assessing whether patients need referral.” For those who do, they added, “triage using photographs is an excellent way to reach out to a referral center for advice and possible urgent referral.” In addition, a recent study emphasized that telemedicine using either live interactive portals or store-and-forward can be helpful in evaluation and management of patients with IH.
Dr. Léauté-Labrèze and colleagues acknowledged certain limitations of the analysis, including the fact that it was performed post-hoc on an existing study and the challenge of translating its findings into clinical practice.
The three study authors were also authors of the 2015 NEJM study; Dr. Léauté-Labrèze was the lead author.
Dr. Léauté-Labrèze disclosed that she has served as a speaker and consultant for Pierre Fabre. Dr. Delarue is an employee of the company. Dr. Frieden reported having no disclosures relevant to the analysis.
FROM PEDIATRIC DERMATOLOGY
The dark side of online mom groups
I have assumed that being a parent has always been an anxiety-producing experience. Even back when the neonatal mortality rate was orders of magnitude greater than we are experiencing now, I suspect that each birth was still accompanied by a period of angst. However, as families no longer felt the need to produce more children to replace those lost to illness, each surviving child fell under the glare of an ever brightening spotlight.
Raising a child no longer became just something that came naturally, learned from one’s parents. Philosophers and eventually physicians felt obligated to advise parents on the best practices. My parents turned to Dr. Benjamin Spock’s classic work when they had a question, but I never got the feeling that they took his words as gospel.
By the time I started in practice the condition of being a parent was morphing into a verb. Books on “parenting” were beginning to fill the shelves of libraries and bookstores. Frustrated by what I saw as poorly conceived instruction manuals I succumbed to the temptation to spread my “better” advice for anxiety-tormented parents by writing books on how to feed picky eaters, or how to get erratic sleepers to sleep, or how to get a misbehaving child to understand the simple concept of “No!”
Back in the pre-Internet days I was competing for the attention of anxiety-driven parents not just with other self-described experts sitting at word processors, but with grandmothers, aunts, and the ladies next door. The book publishing market has cooled but the demand for advice on how to be the best parent has heated up. Into the void, enabled by the Internet, has erupted the phenomenon of social-media mom groups.
The lady next door and the mothers with strollers meeting informally at the playground are a tiny blip on the radar screen compared with the abundance of other mothers eager to listen and comment on social media–based mom groups unlimited by either geographic or temporal time restraints.
Unfortunately, as a recent article in the Wall Street Journal suggests, these support groups can often have a dark side. Researchers from Pepperdine University found in a small survey of a homogenous population of women that stress, as measured by saliva cortisol levels, increased with increasing use of “mom-centric social media” sites.
Citing anecdotal observations by mothers who did not participate in the study, the WSJ article describes episodes of shaming over topics such as steroid use in eczema and vaccine hesitancy. One mother described how she found group discussions about breastfeeding “particularly anxiety-producing.”
I have limited experience with online support groups but I have been surprised by how rude and condescending some of the contributors can be to what I could consider to be emotionally neutral subjects such as outboard motor oil pressure. I can imagine that when it comes to subjects in which there is no one best answer, the relative anonymity of the Internet provides cover for language that can be hurtful and stress inducing for someone already feeling isolated and anxious about being a parent.
Although this Pepperdine study is small, I suspect that a larger study would support the authors’ observations. For us as providers, it suggests that we need to find where parents are getting their information when we are trying to help those who seem particularly distressed. We should caution them that, while sharing information with peers can be reassuring and helpful at times, mom groups can be toxic as well. It also means that we should be careful in recommending social media sites – even those for which we have had good feedback.
And, most importantly, we must continue to work hard to make ourselves available to provide sensible and sensitive answers to those questions that are anxiety-producing for new parents.
Dr. Wilkoff practiced primary care pediatrics in Brunswick, Maine, for nearly 40 years. He has authored several books on behavioral pediatrics, including “How to Say No to Your Toddler.” Other than a Littman stethoscope he accepted as a first-year medical student in 1966, Dr. Wilkoff reports having nothing to disclose. Email him at [email protected].
I have assumed that being a parent has always been an anxiety-producing experience. Even back when the neonatal mortality rate was orders of magnitude greater than we are experiencing now, I suspect that each birth was still accompanied by a period of angst. However, as families no longer felt the need to produce more children to replace those lost to illness, each surviving child fell under the glare of an ever brightening spotlight.
Raising a child no longer became just something that came naturally, learned from one’s parents. Philosophers and eventually physicians felt obligated to advise parents on the best practices. My parents turned to Dr. Benjamin Spock’s classic work when they had a question, but I never got the feeling that they took his words as gospel.
By the time I started in practice the condition of being a parent was morphing into a verb. Books on “parenting” were beginning to fill the shelves of libraries and bookstores. Frustrated by what I saw as poorly conceived instruction manuals I succumbed to the temptation to spread my “better” advice for anxiety-tormented parents by writing books on how to feed picky eaters, or how to get erratic sleepers to sleep, or how to get a misbehaving child to understand the simple concept of “No!”
Back in the pre-Internet days I was competing for the attention of anxiety-driven parents not just with other self-described experts sitting at word processors, but with grandmothers, aunts, and the ladies next door. The book publishing market has cooled but the demand for advice on how to be the best parent has heated up. Into the void, enabled by the Internet, has erupted the phenomenon of social-media mom groups.
The lady next door and the mothers with strollers meeting informally at the playground are a tiny blip on the radar screen compared with the abundance of other mothers eager to listen and comment on social media–based mom groups unlimited by either geographic or temporal time restraints.
Unfortunately, as a recent article in the Wall Street Journal suggests, these support groups can often have a dark side. Researchers from Pepperdine University found in a small survey of a homogenous population of women that stress, as measured by saliva cortisol levels, increased with increasing use of “mom-centric social media” sites.
Citing anecdotal observations by mothers who did not participate in the study, the WSJ article describes episodes of shaming over topics such as steroid use in eczema and vaccine hesitancy. One mother described how she found group discussions about breastfeeding “particularly anxiety-producing.”
I have limited experience with online support groups but I have been surprised by how rude and condescending some of the contributors can be to what I could consider to be emotionally neutral subjects such as outboard motor oil pressure. I can imagine that when it comes to subjects in which there is no one best answer, the relative anonymity of the Internet provides cover for language that can be hurtful and stress inducing for someone already feeling isolated and anxious about being a parent.
Although this Pepperdine study is small, I suspect that a larger study would support the authors’ observations. For us as providers, it suggests that we need to find where parents are getting their information when we are trying to help those who seem particularly distressed. We should caution them that, while sharing information with peers can be reassuring and helpful at times, mom groups can be toxic as well. It also means that we should be careful in recommending social media sites – even those for which we have had good feedback.
And, most importantly, we must continue to work hard to make ourselves available to provide sensible and sensitive answers to those questions that are anxiety-producing for new parents.
Dr. Wilkoff practiced primary care pediatrics in Brunswick, Maine, for nearly 40 years. He has authored several books on behavioral pediatrics, including “How to Say No to Your Toddler.” Other than a Littman stethoscope he accepted as a first-year medical student in 1966, Dr. Wilkoff reports having nothing to disclose. Email him at [email protected].
I have assumed that being a parent has always been an anxiety-producing experience. Even back when the neonatal mortality rate was orders of magnitude greater than we are experiencing now, I suspect that each birth was still accompanied by a period of angst. However, as families no longer felt the need to produce more children to replace those lost to illness, each surviving child fell under the glare of an ever brightening spotlight.
Raising a child no longer became just something that came naturally, learned from one’s parents. Philosophers and eventually physicians felt obligated to advise parents on the best practices. My parents turned to Dr. Benjamin Spock’s classic work when they had a question, but I never got the feeling that they took his words as gospel.
By the time I started in practice the condition of being a parent was morphing into a verb. Books on “parenting” were beginning to fill the shelves of libraries and bookstores. Frustrated by what I saw as poorly conceived instruction manuals I succumbed to the temptation to spread my “better” advice for anxiety-tormented parents by writing books on how to feed picky eaters, or how to get erratic sleepers to sleep, or how to get a misbehaving child to understand the simple concept of “No!”
Back in the pre-Internet days I was competing for the attention of anxiety-driven parents not just with other self-described experts sitting at word processors, but with grandmothers, aunts, and the ladies next door. The book publishing market has cooled but the demand for advice on how to be the best parent has heated up. Into the void, enabled by the Internet, has erupted the phenomenon of social-media mom groups.
The lady next door and the mothers with strollers meeting informally at the playground are a tiny blip on the radar screen compared with the abundance of other mothers eager to listen and comment on social media–based mom groups unlimited by either geographic or temporal time restraints.
Unfortunately, as a recent article in the Wall Street Journal suggests, these support groups can often have a dark side. Researchers from Pepperdine University found in a small survey of a homogenous population of women that stress, as measured by saliva cortisol levels, increased with increasing use of “mom-centric social media” sites.
Citing anecdotal observations by mothers who did not participate in the study, the WSJ article describes episodes of shaming over topics such as steroid use in eczema and vaccine hesitancy. One mother described how she found group discussions about breastfeeding “particularly anxiety-producing.”
I have limited experience with online support groups but I have been surprised by how rude and condescending some of the contributors can be to what I could consider to be emotionally neutral subjects such as outboard motor oil pressure. I can imagine that when it comes to subjects in which there is no one best answer, the relative anonymity of the Internet provides cover for language that can be hurtful and stress inducing for someone already feeling isolated and anxious about being a parent.
Although this Pepperdine study is small, I suspect that a larger study would support the authors’ observations. For us as providers, it suggests that we need to find where parents are getting their information when we are trying to help those who seem particularly distressed. We should caution them that, while sharing information with peers can be reassuring and helpful at times, mom groups can be toxic as well. It also means that we should be careful in recommending social media sites – even those for which we have had good feedback.
And, most importantly, we must continue to work hard to make ourselves available to provide sensible and sensitive answers to those questions that are anxiety-producing for new parents.
Dr. Wilkoff practiced primary care pediatrics in Brunswick, Maine, for nearly 40 years. He has authored several books on behavioral pediatrics, including “How to Say No to Your Toddler.” Other than a Littman stethoscope he accepted as a first-year medical student in 1966, Dr. Wilkoff reports having nothing to disclose. Email him at [email protected].
Guidance updated for congenital hypothyroidism screening, management
Congenital hypothyroidism is one of the most common preventable causes of intellectual disabilities worldwide, but newborn screening has not been established in all countries.
Additionally, screening alone is not enough to prevent adverse outcomes in children, write authors of a technical report published online in Pediatrics (Jan. 2023;151[1]:e2022060420).
Susan R. Rose, MD, with the division of endocrinology at Cincinnati Children’s Hospital Medical Center in Ohio, led the work group that updated guidance for screening and management of congenital hypothyroidism. The group worked in conjunction with the American Academy of Pediatrics Section on Endocrinology, the AAP Council on Genetics, the Pediatric Endocrine Society, and the American Thyroid Association.
In addition to screening, timely diagnosis, effective treatment, and follow-up are important.
Tests don’t always tell the full story with congenital hypothyroidism.
“Physicians need to consider hypothyroidism in the face of clinical symptoms, even if newborn screening thyroid test results are normal,” the authors write.
They add that newborn screening for congenital hypothyroidism followed by prompt levothyroxine therapy can prevent severe intellectual disability, psychomotor dysfunction, and impaired growth.
Incidence of congenital hypothyroidism ranges from approximately 1 in 2,000 to 1 in 4,000 newborn infants in countries that have newborn screening data, according to the report.
Following are highlights of the guidance:
Clinical signs
Symptoms and signs include large posterior fontanelle, lethargy, large tongue, prolonged jaundice, umbilical hernia, constipation, and/or hypothermia. With these signs, measuring serum thyroid-stimulating hormone (TSH) and free thyroxine (FT4) is indicated, regardless of screening results.
Newborn screening in first days
Population screening is cost effective when performed by state or other public health laboratories working with hospitals or birthing centers in their area, the authors write.
Multidisciplinary teams are best able to conduct comprehensive care when cases are detected.
The screening includes a dried blood spot from a heel stick on an approved paper card using appropriate collection methods. The blood spots are then sent to the laboratory. The preferred age for collecting the specimen is 48-72 hours of age.
That timing may be difficult, the authors note, as 90% of infants in the United States and Europe are discharged before 48 hours, but taking the specimen before discharge is important to avoid missing the early diagnosis.
“However, collection of the NBS [newborn screening] specimen before 48 hours of age, and particularly before 24 hours of age, necessitates the use of age-specific TSH reference ranges or repeat screening, particularly to avoid false-positive results,” the authors note.
If a newborn infant is transferred to another hospital, communication about the screening is critical.
Testing strategies
Three test strategies are used for screening: a primary TSH – reflex T4 measurement; primary T4 – reflex TSH measurement; and combined T4 and TSH measurement.
“All three test strategies detect moderate to severe primary congenital hypothyroidism with similar accuracy,” the authors write.
Most newborn screening programs in the United States and worldwide use a primary TSH test strategy.
Multiple births, same-sex twins
The incidence of congenital hypothyroidism appears to be higher with multiple births (1:876 in twin births and 1:575 in higher-order multiple births in one study). Another study showed the incidence of congenital hypothyroidism in same-sex twins to be 1 in 593, compared with 1 in 3,060 in different-sex twins.
“Most twin pairs (> 95%) are discordant for congenital hypothyroidism,” the authors write. “However, in monozygotic twins who share placental circulation, blood from a euthyroid fetal twin with normal thyroid hormone levels may cross to a fetal twin with congenital hypothyroidism, temporarily correcting the hypothyroidism and preventing its detection by newborn screening at 24-72 hours of life. Thus, all monozygotic twins, or same-sex twins for whom zygosity is unknown, should undergo repeat newborn screening around 2 weeks of age.”
Down syndrome
Congenital hypothyroidism incidence in infants with trisomy 21 (Down syndrome) is high and ranges from 1% to 12% in various reports. The infants tend to have lower T4 concentrations and higher TSH concentrations than do infants without trisomy. Down syndrome is associated with other comorbidities, including congenital heart disease, “that may further increase the risk of abnormal newborn screening results because of acute illness or excess iodine exposure,” the authors write.
Even infants with Down syndrome who don’t have congenital hypothyroidism are still at significant risk of developing primary hypothyroidism in their first year (approximately 7% in one prospective study).
“Therefore, in these infants, a second newborn screening should be performed at 2-4 weeks of life and serum TSH should be measured at 6 and 12 months of life,” the authors say.
Communication with primary care provider
Direct communication between the newborn screening program and the primary care physician is important for appropriate follow-up. Consulting a pediatric endocrinologist can speed diagnosis and management.
Serum confirmation after abnormal screening
The next step if any child’s screening results suggest congenital hypothyroidism is to perform a physical exam (for goiter, lingual thyroid gland, and/or physical signs of hypothyroidism) and to measure the concentrations of TSH and FT4 (or total T4) in the blood.
For confirmation of abnormal screening results, the authors say, measurement of FT4 is preferred over measuring total T4.
Interpreting serum confirmation
Some interpretations are clear cut: “Elevated TSH with low FT4 on the confirmatory serum testing indicates overt primary hypothyroidism,” the authors write.
But there are various other outcomes with more controversy.
Elevated TSH and normal FT4, for instance, is known as hyperthyrotropinemia or subclinical hypothyroidism and represents a mild primary thyroid abnormality.
In this scenario, there is controversy regarding the need for L-T4 therapy because there are few and conflicting studies regarding how mild congenital hypothyroidism affects cognitive development.
“[E]xpert opinion suggests that persistent TSH elevation > 10 mIU/L is an indication to initiate L-T4 treatment,” the authors write.
Normal TSH and low T4 is seen in patients with central hypothyroidism, prematurity, low birth weight, acute illness, or thyroxine-binding globulin deficiency.
“The concept that central hypothyroidism is usually mild appears unfounded: A study from the Netherlands found that mean pretreatment serum FT4 levels in central congenital hypothyroidism were similar to those of patients with moderately severe primary congenital hypothyroidism. Therefore, L-T4 treatment of central congenital hypothyroidism is indicated.”
Imaging
Routine thyroid imaging is controversial for patients with congenital hypothyroidism. In most cases, it won’t alter clinical management before age 3 years.
Thyroid ultrasonography can find thyroid tissue without radiation exposure and can be performed at any time after a congenital hypothyroidism diagnosis.
“Ultrasonography has lower sensitivity than scintigraphy for detecting ectopic thyroid tissue, the most common cause of congenital hypothyroidism, although its sensitivity is improved by the use of color Doppler,” the authors write.
Infants with normal thyroid imaging at birth may have transient hypothyroidism. In these patients, reevaluation of thyroid hormone therapy after 3 years of age to assess for persistent hypothyroidism may be beneficial.
Treatment
Congenital hypothyroidism is treated with enteral L-T4 at a starting dose of 10-15 mcg/kg per day, given once a day.
L-T4 tablets are the treatment of choice and generic tablets are fine for most children, the authors write, adding that a brand name formulation may be more consistent and better for children with severe congenital hypothyroidism.
An oral solution of L-T4 has been approved by the U.S. Food and Drug Administration for use in children.
“[H]owever, limited experience with its use showed that dosing may not be equivalent to dosing with tablet formulations,” the guidance states.
The goal of initial L-T4 therapy is to normalize serum FT4 and TSH levels as quickly as possible. The outlook is poorer for infants whose hypothyroidism is detected later in life, who receive inadequate doses of L-T4, or who have more severe forms.
Age-specific TSH reference ranges vary by laboratory, but recent studies indicate the top limit of normal TSH in infants in the first 3 months of life is 4.1-4.8 mIU/L.
“[T]herefore, TSH values above 5 mIU/L generally are abnormal if observed after 3 months of age. Whether overtreatment (defined by elevated serum FT4) is harmful remains unclear and evidence is conflicting,” the authors write.
Monitoring
In the near-term follow-up, close laboratory monitoring is necessary during L-T4 treatment to maintain blood TSH and FT4 in the target ranges. Studies support measuring those levels every 1-2 months in the first 6 months of life for children with congenital hypothyroidism, every 2-3 months in the second 6 months, and then every 3-4 months between 1 and 3 years of age.
In long-term follow-up, attention to behavioral and cognitive development is important, because children with congenital hypothyroidism may be at higher risk for neurocognitive and socioemotional dysfunction compared with their peers, even with adequate treatment of congenital hypothyroidism. Hearing deficits are reported in about 10% of children with congenital hypothyroidism.
Developmental outcomes
When L-T4 therapy is maintained and TSH and FT4 are within target range, growth and adult height are generally normal in children with congenital hypothyroidism.
In contrast, the neurodevelopmental prognosis is less certain when treatment starts late.
“[I]nfants with severe congenital hypothyroidism and intrauterine hypothyroidism (as indicated by retarded skeletal maturation at birth) may have low-to-normal intelligence,” the report states. “Similarly, although more than 80% of infants given L-T4 replacement therapy before 3 months of age have an intelligence [quotient] greater than 85, 77% of these infants show signs of cognitive impairment in arithmetic ability, speech, or fine motor coordination later in life.”
If a child is properly treated for congenital hypothyroidism but growth or development is abnormal, testing for other illness, hearing deficit, or other hormone deficiency is needed, the report states.
The authors report no relevant financial relationships.
Congenital hypothyroidism is one of the most common preventable causes of intellectual disabilities worldwide, but newborn screening has not been established in all countries.
Additionally, screening alone is not enough to prevent adverse outcomes in children, write authors of a technical report published online in Pediatrics (Jan. 2023;151[1]:e2022060420).
Susan R. Rose, MD, with the division of endocrinology at Cincinnati Children’s Hospital Medical Center in Ohio, led the work group that updated guidance for screening and management of congenital hypothyroidism. The group worked in conjunction with the American Academy of Pediatrics Section on Endocrinology, the AAP Council on Genetics, the Pediatric Endocrine Society, and the American Thyroid Association.
In addition to screening, timely diagnosis, effective treatment, and follow-up are important.
Tests don’t always tell the full story with congenital hypothyroidism.
“Physicians need to consider hypothyroidism in the face of clinical symptoms, even if newborn screening thyroid test results are normal,” the authors write.
They add that newborn screening for congenital hypothyroidism followed by prompt levothyroxine therapy can prevent severe intellectual disability, psychomotor dysfunction, and impaired growth.
Incidence of congenital hypothyroidism ranges from approximately 1 in 2,000 to 1 in 4,000 newborn infants in countries that have newborn screening data, according to the report.
Following are highlights of the guidance:
Clinical signs
Symptoms and signs include large posterior fontanelle, lethargy, large tongue, prolonged jaundice, umbilical hernia, constipation, and/or hypothermia. With these signs, measuring serum thyroid-stimulating hormone (TSH) and free thyroxine (FT4) is indicated, regardless of screening results.
Newborn screening in first days
Population screening is cost effective when performed by state or other public health laboratories working with hospitals or birthing centers in their area, the authors write.
Multidisciplinary teams are best able to conduct comprehensive care when cases are detected.
The screening includes a dried blood spot from a heel stick on an approved paper card using appropriate collection methods. The blood spots are then sent to the laboratory. The preferred age for collecting the specimen is 48-72 hours of age.
That timing may be difficult, the authors note, as 90% of infants in the United States and Europe are discharged before 48 hours, but taking the specimen before discharge is important to avoid missing the early diagnosis.
“However, collection of the NBS [newborn screening] specimen before 48 hours of age, and particularly before 24 hours of age, necessitates the use of age-specific TSH reference ranges or repeat screening, particularly to avoid false-positive results,” the authors note.
If a newborn infant is transferred to another hospital, communication about the screening is critical.
Testing strategies
Three test strategies are used for screening: a primary TSH – reflex T4 measurement; primary T4 – reflex TSH measurement; and combined T4 and TSH measurement.
“All three test strategies detect moderate to severe primary congenital hypothyroidism with similar accuracy,” the authors write.
Most newborn screening programs in the United States and worldwide use a primary TSH test strategy.
Multiple births, same-sex twins
The incidence of congenital hypothyroidism appears to be higher with multiple births (1:876 in twin births and 1:575 in higher-order multiple births in one study). Another study showed the incidence of congenital hypothyroidism in same-sex twins to be 1 in 593, compared with 1 in 3,060 in different-sex twins.
“Most twin pairs (> 95%) are discordant for congenital hypothyroidism,” the authors write. “However, in monozygotic twins who share placental circulation, blood from a euthyroid fetal twin with normal thyroid hormone levels may cross to a fetal twin with congenital hypothyroidism, temporarily correcting the hypothyroidism and preventing its detection by newborn screening at 24-72 hours of life. Thus, all monozygotic twins, or same-sex twins for whom zygosity is unknown, should undergo repeat newborn screening around 2 weeks of age.”
Down syndrome
Congenital hypothyroidism incidence in infants with trisomy 21 (Down syndrome) is high and ranges from 1% to 12% in various reports. The infants tend to have lower T4 concentrations and higher TSH concentrations than do infants without trisomy. Down syndrome is associated with other comorbidities, including congenital heart disease, “that may further increase the risk of abnormal newborn screening results because of acute illness or excess iodine exposure,” the authors write.
Even infants with Down syndrome who don’t have congenital hypothyroidism are still at significant risk of developing primary hypothyroidism in their first year (approximately 7% in one prospective study).
“Therefore, in these infants, a second newborn screening should be performed at 2-4 weeks of life and serum TSH should be measured at 6 and 12 months of life,” the authors say.
Communication with primary care provider
Direct communication between the newborn screening program and the primary care physician is important for appropriate follow-up. Consulting a pediatric endocrinologist can speed diagnosis and management.
Serum confirmation after abnormal screening
The next step if any child’s screening results suggest congenital hypothyroidism is to perform a physical exam (for goiter, lingual thyroid gland, and/or physical signs of hypothyroidism) and to measure the concentrations of TSH and FT4 (or total T4) in the blood.
For confirmation of abnormal screening results, the authors say, measurement of FT4 is preferred over measuring total T4.
Interpreting serum confirmation
Some interpretations are clear cut: “Elevated TSH with low FT4 on the confirmatory serum testing indicates overt primary hypothyroidism,” the authors write.
But there are various other outcomes with more controversy.
Elevated TSH and normal FT4, for instance, is known as hyperthyrotropinemia or subclinical hypothyroidism and represents a mild primary thyroid abnormality.
In this scenario, there is controversy regarding the need for L-T4 therapy because there are few and conflicting studies regarding how mild congenital hypothyroidism affects cognitive development.
“[E]xpert opinion suggests that persistent TSH elevation > 10 mIU/L is an indication to initiate L-T4 treatment,” the authors write.
Normal TSH and low T4 is seen in patients with central hypothyroidism, prematurity, low birth weight, acute illness, or thyroxine-binding globulin deficiency.
“The concept that central hypothyroidism is usually mild appears unfounded: A study from the Netherlands found that mean pretreatment serum FT4 levels in central congenital hypothyroidism were similar to those of patients with moderately severe primary congenital hypothyroidism. Therefore, L-T4 treatment of central congenital hypothyroidism is indicated.”
Imaging
Routine thyroid imaging is controversial for patients with congenital hypothyroidism. In most cases, it won’t alter clinical management before age 3 years.
Thyroid ultrasonography can find thyroid tissue without radiation exposure and can be performed at any time after a congenital hypothyroidism diagnosis.
“Ultrasonography has lower sensitivity than scintigraphy for detecting ectopic thyroid tissue, the most common cause of congenital hypothyroidism, although its sensitivity is improved by the use of color Doppler,” the authors write.
Infants with normal thyroid imaging at birth may have transient hypothyroidism. In these patients, reevaluation of thyroid hormone therapy after 3 years of age to assess for persistent hypothyroidism may be beneficial.
Treatment
Congenital hypothyroidism is treated with enteral L-T4 at a starting dose of 10-15 mcg/kg per day, given once a day.
L-T4 tablets are the treatment of choice and generic tablets are fine for most children, the authors write, adding that a brand name formulation may be more consistent and better for children with severe congenital hypothyroidism.
An oral solution of L-T4 has been approved by the U.S. Food and Drug Administration for use in children.
“[H]owever, limited experience with its use showed that dosing may not be equivalent to dosing with tablet formulations,” the guidance states.
The goal of initial L-T4 therapy is to normalize serum FT4 and TSH levels as quickly as possible. The outlook is poorer for infants whose hypothyroidism is detected later in life, who receive inadequate doses of L-T4, or who have more severe forms.
Age-specific TSH reference ranges vary by laboratory, but recent studies indicate the top limit of normal TSH in infants in the first 3 months of life is 4.1-4.8 mIU/L.
“[T]herefore, TSH values above 5 mIU/L generally are abnormal if observed after 3 months of age. Whether overtreatment (defined by elevated serum FT4) is harmful remains unclear and evidence is conflicting,” the authors write.
Monitoring
In the near-term follow-up, close laboratory monitoring is necessary during L-T4 treatment to maintain blood TSH and FT4 in the target ranges. Studies support measuring those levels every 1-2 months in the first 6 months of life for children with congenital hypothyroidism, every 2-3 months in the second 6 months, and then every 3-4 months between 1 and 3 years of age.
In long-term follow-up, attention to behavioral and cognitive development is important, because children with congenital hypothyroidism may be at higher risk for neurocognitive and socioemotional dysfunction compared with their peers, even with adequate treatment of congenital hypothyroidism. Hearing deficits are reported in about 10% of children with congenital hypothyroidism.
Developmental outcomes
When L-T4 therapy is maintained and TSH and FT4 are within target range, growth and adult height are generally normal in children with congenital hypothyroidism.
In contrast, the neurodevelopmental prognosis is less certain when treatment starts late.
“[I]nfants with severe congenital hypothyroidism and intrauterine hypothyroidism (as indicated by retarded skeletal maturation at birth) may have low-to-normal intelligence,” the report states. “Similarly, although more than 80% of infants given L-T4 replacement therapy before 3 months of age have an intelligence [quotient] greater than 85, 77% of these infants show signs of cognitive impairment in arithmetic ability, speech, or fine motor coordination later in life.”
If a child is properly treated for congenital hypothyroidism but growth or development is abnormal, testing for other illness, hearing deficit, or other hormone deficiency is needed, the report states.
The authors report no relevant financial relationships.
Congenital hypothyroidism is one of the most common preventable causes of intellectual disabilities worldwide, but newborn screening has not been established in all countries.
Additionally, screening alone is not enough to prevent adverse outcomes in children, write authors of a technical report published online in Pediatrics (Jan. 2023;151[1]:e2022060420).
Susan R. Rose, MD, with the division of endocrinology at Cincinnati Children’s Hospital Medical Center in Ohio, led the work group that updated guidance for screening and management of congenital hypothyroidism. The group worked in conjunction with the American Academy of Pediatrics Section on Endocrinology, the AAP Council on Genetics, the Pediatric Endocrine Society, and the American Thyroid Association.
In addition to screening, timely diagnosis, effective treatment, and follow-up are important.
Tests don’t always tell the full story with congenital hypothyroidism.
“Physicians need to consider hypothyroidism in the face of clinical symptoms, even if newborn screening thyroid test results are normal,” the authors write.
They add that newborn screening for congenital hypothyroidism followed by prompt levothyroxine therapy can prevent severe intellectual disability, psychomotor dysfunction, and impaired growth.
Incidence of congenital hypothyroidism ranges from approximately 1 in 2,000 to 1 in 4,000 newborn infants in countries that have newborn screening data, according to the report.
Following are highlights of the guidance:
Clinical signs
Symptoms and signs include large posterior fontanelle, lethargy, large tongue, prolonged jaundice, umbilical hernia, constipation, and/or hypothermia. With these signs, measuring serum thyroid-stimulating hormone (TSH) and free thyroxine (FT4) is indicated, regardless of screening results.
Newborn screening in first days
Population screening is cost effective when performed by state or other public health laboratories working with hospitals or birthing centers in their area, the authors write.
Multidisciplinary teams are best able to conduct comprehensive care when cases are detected.
The screening includes a dried blood spot from a heel stick on an approved paper card using appropriate collection methods. The blood spots are then sent to the laboratory. The preferred age for collecting the specimen is 48-72 hours of age.
That timing may be difficult, the authors note, as 90% of infants in the United States and Europe are discharged before 48 hours, but taking the specimen before discharge is important to avoid missing the early diagnosis.
“However, collection of the NBS [newborn screening] specimen before 48 hours of age, and particularly before 24 hours of age, necessitates the use of age-specific TSH reference ranges or repeat screening, particularly to avoid false-positive results,” the authors note.
If a newborn infant is transferred to another hospital, communication about the screening is critical.
Testing strategies
Three test strategies are used for screening: a primary TSH – reflex T4 measurement; primary T4 – reflex TSH measurement; and combined T4 and TSH measurement.
“All three test strategies detect moderate to severe primary congenital hypothyroidism with similar accuracy,” the authors write.
Most newborn screening programs in the United States and worldwide use a primary TSH test strategy.
Multiple births, same-sex twins
The incidence of congenital hypothyroidism appears to be higher with multiple births (1:876 in twin births and 1:575 in higher-order multiple births in one study). Another study showed the incidence of congenital hypothyroidism in same-sex twins to be 1 in 593, compared with 1 in 3,060 in different-sex twins.
“Most twin pairs (> 95%) are discordant for congenital hypothyroidism,” the authors write. “However, in monozygotic twins who share placental circulation, blood from a euthyroid fetal twin with normal thyroid hormone levels may cross to a fetal twin with congenital hypothyroidism, temporarily correcting the hypothyroidism and preventing its detection by newborn screening at 24-72 hours of life. Thus, all monozygotic twins, or same-sex twins for whom zygosity is unknown, should undergo repeat newborn screening around 2 weeks of age.”
Down syndrome
Congenital hypothyroidism incidence in infants with trisomy 21 (Down syndrome) is high and ranges from 1% to 12% in various reports. The infants tend to have lower T4 concentrations and higher TSH concentrations than do infants without trisomy. Down syndrome is associated with other comorbidities, including congenital heart disease, “that may further increase the risk of abnormal newborn screening results because of acute illness or excess iodine exposure,” the authors write.
Even infants with Down syndrome who don’t have congenital hypothyroidism are still at significant risk of developing primary hypothyroidism in their first year (approximately 7% in one prospective study).
“Therefore, in these infants, a second newborn screening should be performed at 2-4 weeks of life and serum TSH should be measured at 6 and 12 months of life,” the authors say.
Communication with primary care provider
Direct communication between the newborn screening program and the primary care physician is important for appropriate follow-up. Consulting a pediatric endocrinologist can speed diagnosis and management.
Serum confirmation after abnormal screening
The next step if any child’s screening results suggest congenital hypothyroidism is to perform a physical exam (for goiter, lingual thyroid gland, and/or physical signs of hypothyroidism) and to measure the concentrations of TSH and FT4 (or total T4) in the blood.
For confirmation of abnormal screening results, the authors say, measurement of FT4 is preferred over measuring total T4.
Interpreting serum confirmation
Some interpretations are clear cut: “Elevated TSH with low FT4 on the confirmatory serum testing indicates overt primary hypothyroidism,” the authors write.
But there are various other outcomes with more controversy.
Elevated TSH and normal FT4, for instance, is known as hyperthyrotropinemia or subclinical hypothyroidism and represents a mild primary thyroid abnormality.
In this scenario, there is controversy regarding the need for L-T4 therapy because there are few and conflicting studies regarding how mild congenital hypothyroidism affects cognitive development.
“[E]xpert opinion suggests that persistent TSH elevation > 10 mIU/L is an indication to initiate L-T4 treatment,” the authors write.
Normal TSH and low T4 is seen in patients with central hypothyroidism, prematurity, low birth weight, acute illness, or thyroxine-binding globulin deficiency.
“The concept that central hypothyroidism is usually mild appears unfounded: A study from the Netherlands found that mean pretreatment serum FT4 levels in central congenital hypothyroidism were similar to those of patients with moderately severe primary congenital hypothyroidism. Therefore, L-T4 treatment of central congenital hypothyroidism is indicated.”
Imaging
Routine thyroid imaging is controversial for patients with congenital hypothyroidism. In most cases, it won’t alter clinical management before age 3 years.
Thyroid ultrasonography can find thyroid tissue without radiation exposure and can be performed at any time after a congenital hypothyroidism diagnosis.
“Ultrasonography has lower sensitivity than scintigraphy for detecting ectopic thyroid tissue, the most common cause of congenital hypothyroidism, although its sensitivity is improved by the use of color Doppler,” the authors write.
Infants with normal thyroid imaging at birth may have transient hypothyroidism. In these patients, reevaluation of thyroid hormone therapy after 3 years of age to assess for persistent hypothyroidism may be beneficial.
Treatment
Congenital hypothyroidism is treated with enteral L-T4 at a starting dose of 10-15 mcg/kg per day, given once a day.
L-T4 tablets are the treatment of choice and generic tablets are fine for most children, the authors write, adding that a brand name formulation may be more consistent and better for children with severe congenital hypothyroidism.
An oral solution of L-T4 has been approved by the U.S. Food and Drug Administration for use in children.
“[H]owever, limited experience with its use showed that dosing may not be equivalent to dosing with tablet formulations,” the guidance states.
The goal of initial L-T4 therapy is to normalize serum FT4 and TSH levels as quickly as possible. The outlook is poorer for infants whose hypothyroidism is detected later in life, who receive inadequate doses of L-T4, or who have more severe forms.
Age-specific TSH reference ranges vary by laboratory, but recent studies indicate the top limit of normal TSH in infants in the first 3 months of life is 4.1-4.8 mIU/L.
“[T]herefore, TSH values above 5 mIU/L generally are abnormal if observed after 3 months of age. Whether overtreatment (defined by elevated serum FT4) is harmful remains unclear and evidence is conflicting,” the authors write.
Monitoring
In the near-term follow-up, close laboratory monitoring is necessary during L-T4 treatment to maintain blood TSH and FT4 in the target ranges. Studies support measuring those levels every 1-2 months in the first 6 months of life for children with congenital hypothyroidism, every 2-3 months in the second 6 months, and then every 3-4 months between 1 and 3 years of age.
In long-term follow-up, attention to behavioral and cognitive development is important, because children with congenital hypothyroidism may be at higher risk for neurocognitive and socioemotional dysfunction compared with their peers, even with adequate treatment of congenital hypothyroidism. Hearing deficits are reported in about 10% of children with congenital hypothyroidism.
Developmental outcomes
When L-T4 therapy is maintained and TSH and FT4 are within target range, growth and adult height are generally normal in children with congenital hypothyroidism.
In contrast, the neurodevelopmental prognosis is less certain when treatment starts late.
“[I]nfants with severe congenital hypothyroidism and intrauterine hypothyroidism (as indicated by retarded skeletal maturation at birth) may have low-to-normal intelligence,” the report states. “Similarly, although more than 80% of infants given L-T4 replacement therapy before 3 months of age have an intelligence [quotient] greater than 85, 77% of these infants show signs of cognitive impairment in arithmetic ability, speech, or fine motor coordination later in life.”
If a child is properly treated for congenital hypothyroidism but growth or development is abnormal, testing for other illness, hearing deficit, or other hormone deficiency is needed, the report states.
The authors report no relevant financial relationships.
FROM PEDIATRICS
Researchers use AI to diagnose infantile hemangioma
a proof-of-concept study reported.
Early diagnosis of infantile hemangiomas “is essential, as there is a narrow window of opportunity to treat high-risk lesions,” April J. Zhang, MD, and coauthors noted in the study. “AI algorithms optimized for image classification through use of convolutional neural networks have been widely utilized to classify lesions in which images are readily standardized, such as skin cancers and onychomycosis.”
The results were published in Pediatric Dermatology.
Dr. Zhang, of the department of dermatology at the Medical College of Wisconsin, Milwaukee, and colleagues trained a convoluted neural network to diagnose infantile hemangiomas based on clinical images from pediatric dermatology patients treated at Children’s Wisconsin between 2002 and 2019.
They used Microsoft’s ResNet-50, a publicly available network architecture, to train a binary infantile hemangioma classifier to group images as infantile hemangiomas or non–infantile hemangiomas. The team randomly split data from the model into training, validation, and test groups.
The preliminary data set contained 14,811 images, about half of which were facial lesions. The training group of images achieved an accuracy of 61.5%. Next, Dr. Zhang and colleagues limited the data set to facial-only lesions and removed poor-quality images, which left 5,834 images in the final data set: 4,110 infantile hemangiomas and 1,724 non–infantile hemangiomas. This model achieved an overall accuracy of 91.7%, with a sensitivity of 93% and a specificity of 90.5%.
“Our study is the first to demonstrate the applicability of AI in the pediatric dermatology population,” the authors wrote. “With current nationwide shortages in pediatric dermatologists, AI has the potential to improve patient access and outcomes through enhanced rapid diagnostic capabilities.”
They acknowledged certain limitations of the study, including a data set with greater numbers of infantile hemangiomas, compared with non–infantile hemangiomas.
“Random oversampling of the non–infantile hemangioma data set was used to combat this but may lead to model overfitting, where a model performs well on its training data but is unable to generalize to new data,” they wrote. “As infantile hemangiomas are rarely biopsied, expert clinical diagnoses were used as the gold standard without pathologic confirmation.”
The authors reported having no financial disclosures.
a proof-of-concept study reported.
Early diagnosis of infantile hemangiomas “is essential, as there is a narrow window of opportunity to treat high-risk lesions,” April J. Zhang, MD, and coauthors noted in the study. “AI algorithms optimized for image classification through use of convolutional neural networks have been widely utilized to classify lesions in which images are readily standardized, such as skin cancers and onychomycosis.”
The results were published in Pediatric Dermatology.
Dr. Zhang, of the department of dermatology at the Medical College of Wisconsin, Milwaukee, and colleagues trained a convoluted neural network to diagnose infantile hemangiomas based on clinical images from pediatric dermatology patients treated at Children’s Wisconsin between 2002 and 2019.
They used Microsoft’s ResNet-50, a publicly available network architecture, to train a binary infantile hemangioma classifier to group images as infantile hemangiomas or non–infantile hemangiomas. The team randomly split data from the model into training, validation, and test groups.
The preliminary data set contained 14,811 images, about half of which were facial lesions. The training group of images achieved an accuracy of 61.5%. Next, Dr. Zhang and colleagues limited the data set to facial-only lesions and removed poor-quality images, which left 5,834 images in the final data set: 4,110 infantile hemangiomas and 1,724 non–infantile hemangiomas. This model achieved an overall accuracy of 91.7%, with a sensitivity of 93% and a specificity of 90.5%.
“Our study is the first to demonstrate the applicability of AI in the pediatric dermatology population,” the authors wrote. “With current nationwide shortages in pediatric dermatologists, AI has the potential to improve patient access and outcomes through enhanced rapid diagnostic capabilities.”
They acknowledged certain limitations of the study, including a data set with greater numbers of infantile hemangiomas, compared with non–infantile hemangiomas.
“Random oversampling of the non–infantile hemangioma data set was used to combat this but may lead to model overfitting, where a model performs well on its training data but is unable to generalize to new data,” they wrote. “As infantile hemangiomas are rarely biopsied, expert clinical diagnoses were used as the gold standard without pathologic confirmation.”
The authors reported having no financial disclosures.
a proof-of-concept study reported.
Early diagnosis of infantile hemangiomas “is essential, as there is a narrow window of opportunity to treat high-risk lesions,” April J. Zhang, MD, and coauthors noted in the study. “AI algorithms optimized for image classification through use of convolutional neural networks have been widely utilized to classify lesions in which images are readily standardized, such as skin cancers and onychomycosis.”
The results were published in Pediatric Dermatology.
Dr. Zhang, of the department of dermatology at the Medical College of Wisconsin, Milwaukee, and colleagues trained a convoluted neural network to diagnose infantile hemangiomas based on clinical images from pediatric dermatology patients treated at Children’s Wisconsin between 2002 and 2019.
They used Microsoft’s ResNet-50, a publicly available network architecture, to train a binary infantile hemangioma classifier to group images as infantile hemangiomas or non–infantile hemangiomas. The team randomly split data from the model into training, validation, and test groups.
The preliminary data set contained 14,811 images, about half of which were facial lesions. The training group of images achieved an accuracy of 61.5%. Next, Dr. Zhang and colleagues limited the data set to facial-only lesions and removed poor-quality images, which left 5,834 images in the final data set: 4,110 infantile hemangiomas and 1,724 non–infantile hemangiomas. This model achieved an overall accuracy of 91.7%, with a sensitivity of 93% and a specificity of 90.5%.
“Our study is the first to demonstrate the applicability of AI in the pediatric dermatology population,” the authors wrote. “With current nationwide shortages in pediatric dermatologists, AI has the potential to improve patient access and outcomes through enhanced rapid diagnostic capabilities.”
They acknowledged certain limitations of the study, including a data set with greater numbers of infantile hemangiomas, compared with non–infantile hemangiomas.
“Random oversampling of the non–infantile hemangioma data set was used to combat this but may lead to model overfitting, where a model performs well on its training data but is unable to generalize to new data,” they wrote. “As infantile hemangiomas are rarely biopsied, expert clinical diagnoses were used as the gold standard without pathologic confirmation.”
The authors reported having no financial disclosures.
FROM PEDIATRIC DERMATOLOGY
AAP issues clinical update to cerebral palsy guidelines
Updated clinical guidelines for the early diagnosis and management of cerebral palsy have been issued by the American Academy of Pediatrics.
Coauthored with the American Academy for Cerebral Palsy and Developmental Medicine, the report builds on new evidence for improved care and outcomes since the 2006 consensus guidelines.
Cerebral palsy, the most common neuromotor disorder of childhood, is often accompanied by cognitive impairments, epilepsy, sensory impairments, behavioral problems, communication difficulties, breathing and sleep problems, gastrointestinal and nutritional problems, and bone and orthopedic problems.
In the United States, the estimated prevalence of cerebral palsy ranges from 1.5 to 4 per 1,000 live births.
“Early identification and initiation of evidence-based motor therapies can improve outcomes by taking advantage of the neuroplasticity in the infant brain,” said the guideline authors in an executive summary.
The guideline, published in Pediatrics, is directed to primary care physicians with pediatrics, family practice, or internal medicine training. “It’s a much more comprehensive overview of the important role that primary care providers play in the lifetime care of people with cerebral palsy,” explained Garey Noritz, MD, chair of the 2021-2022 Executive Committee of the Council on Children with Disabilities. Dr. Noritz, a professor of pediatrics at Ohio State University and division chief of the complex health care program at Nationwide Children’s Hospital, both in Columbus, said: “The combined efforts of the primary care physician and specialty providers are needed to achieve the best outcomes.”
The AAP recommends that primary care pediatricians, neonatologists, and other specialists caring for hospitalized newborns recognize those at high risk of cerebral palsy, diagnose them as early as possible, and promptly refer them for therapy. Primary care physicians are advised to identify motor delays early by formalizing standardized developmental surveillance and screening at 9, 18, and 30 months, and to implement family-centered care across multiple specialists.
“If a motor disorder is suspected, primary care physicians should simultaneously begin a medical evaluation, refer to a specialist for definitive diagnosis, and to therapists for treatment,” Dr. Noritz emphasized.
“The earlier any possible movement disorder is recognized and intervention begins, the better a child can develop a gait pattern and work toward living an independent life, said Manish N. Shah, MD, associate professor of pediatric neurosurgery at the University of Texas, Houston, who was not involved in developing the guidelines.
For children in whom physical therapy and medication have not reduced leg spasticity, a minimally invasive spinal procedure can help release contracted tendons and encourage independent walking. The optimal age for selective dorsal rhizotomy is about 4 years, said Dr. Shah, who is director of the Texas Comprehensive Spasticity Center at Children’s Memorial Hermann Hospital in Houston. “You can turn these children into walkers. As adults, they can get jobs, have their own families. It’s life-changing.”
Importantly, the guidelines address the health care disparities leading to a higher prevalence of cerebral palsy in Black children and in those from families with lower socioeconomic status. “Efforts to combat racism and eliminate barriers to culturally sensitive prenatal, perinatal, and later pediatric care may help to improve outcomes for all children with cerebral palsy,” the authors said.
“Every child with cerebral palsy needs an individual plan, but only 30% or 40% are getting interventions,” said Dr. Shah. The updated guidelines could help payers rethink the 15-20 visits a year that are often approved, compared with the 2-3 visits per week that are needed for speech, physical, and occupational therapy, he pointed out.
“Financial issues often compromise the interdisciplinary and coordinated care associated with favorable outcomes in children with cerebral palsy,” said Heidi Feldman, MD, PhD, a developmental and behavioral pediatric specialist at Stanford (Calif.) Medicine Children’s Health’s Johnson Center for Pregnancy and Newborn Services. “With a new guideline, there may be greater willingness to fund these essential services.”
In the meantime, the AAP recommends that pediatricians advise families about available medical, social, and educational services, such as early intervention services, the Title V Maternal and Child Health block grant program, and special education services through the public school system.
Children with cerebral palsy need the same standardized primary care as any child, including the full schedule of recommended vaccinations and vision and hearing testing. They also need to be monitored and treated for the many problems that commonly co-occur, including chronic pain.
When secondary complications arise, the frequency of visits should increase.
Pneumonia, the leading cause of death in children and adolescents with cerebral palsy, can be prevented or minimized through immunization against respiratory diseases and screening for signs and symptoms of aspiration and sleep-disordered breathing.
The AAP also recommends that symptoms or functional declines undergo full investigation into other potential causes.
Since the sedentary lifestyle associated with cerebral palsy is now known to be related to the higher rates of cardiovascular complications in this patient population, the AAP recommends more attention be paid to physical activity and a healthy diet early in life. Pediatricians are advised to help families locate suitable opportunities for adaptive sports and recreation.
Almost 50% of children and adolescents with cerebral palsy have intellectual disability, 60%-80% have difficulty speaking, and about 25% are nonverbal. To address this, pediatricians should maximize the use of augmentative and alternative communication devices and involve experts in speech and language pathology, according to the guidelines.
“Many individuals with cerebral palsy and severe motor limitations have active, creative minds, and may need assistive technology, such as electronic talking devices, to demonstrate that mental life,” said Dr. Feldman. “Primary care clinicians should advocate for assistive technology.”
For challenging behavior, especially in the patient with limited verbal skills, potential nonbehavioral culprits such as constipation, esophageal reflux disease, and musculoskeletal or dental pain must be ruled out.
In the lead-up to adolescence, youth with cerebral palsy must be prepared for puberty, menstruation, and healthy, safe sexual relationships, much like their nonaffected peers. Since a disproportionate number of children with cerebral palsy experience neglect and physical, sexual, and emotional abuse, however, family stressors should be identified and caregivers referred for support services.
For the transition from pediatric to adult health care, the AAP recommends that structured planning begin between 12 and 14 years of age. Before transfer, the pediatrician should prepare a comprehensive medical summary with the input of the patient, parent/guardian, and pediatric subspecialists.
Without a proper handoff, “there is an increased risk of morbidity, medical complications, unnecessary emergency department visits, hospitalizations, and procedures,” the authors warned.
Transitions are likely to run more smoothly when youth are given the opportunity to understand their medical condition and be involved in decisions about their health. With this in mind, the AAP recommends that pediatricians actively discourage overprotective parents from getting in the way of their child developing “maximal independence.”
No potential conflicts of interest were disclosed by the authors, Dr. Shah, or Dr. Feldman.
*This story was updated on Nov. 28, 2022.
Updated clinical guidelines for the early diagnosis and management of cerebral palsy have been issued by the American Academy of Pediatrics.
Coauthored with the American Academy for Cerebral Palsy and Developmental Medicine, the report builds on new evidence for improved care and outcomes since the 2006 consensus guidelines.
Cerebral palsy, the most common neuromotor disorder of childhood, is often accompanied by cognitive impairments, epilepsy, sensory impairments, behavioral problems, communication difficulties, breathing and sleep problems, gastrointestinal and nutritional problems, and bone and orthopedic problems.
In the United States, the estimated prevalence of cerebral palsy ranges from 1.5 to 4 per 1,000 live births.
“Early identification and initiation of evidence-based motor therapies can improve outcomes by taking advantage of the neuroplasticity in the infant brain,” said the guideline authors in an executive summary.
The guideline, published in Pediatrics, is directed to primary care physicians with pediatrics, family practice, or internal medicine training. “It’s a much more comprehensive overview of the important role that primary care providers play in the lifetime care of people with cerebral palsy,” explained Garey Noritz, MD, chair of the 2021-2022 Executive Committee of the Council on Children with Disabilities. Dr. Noritz, a professor of pediatrics at Ohio State University and division chief of the complex health care program at Nationwide Children’s Hospital, both in Columbus, said: “The combined efforts of the primary care physician and specialty providers are needed to achieve the best outcomes.”
The AAP recommends that primary care pediatricians, neonatologists, and other specialists caring for hospitalized newborns recognize those at high risk of cerebral palsy, diagnose them as early as possible, and promptly refer them for therapy. Primary care physicians are advised to identify motor delays early by formalizing standardized developmental surveillance and screening at 9, 18, and 30 months, and to implement family-centered care across multiple specialists.
“If a motor disorder is suspected, primary care physicians should simultaneously begin a medical evaluation, refer to a specialist for definitive diagnosis, and to therapists for treatment,” Dr. Noritz emphasized.
“The earlier any possible movement disorder is recognized and intervention begins, the better a child can develop a gait pattern and work toward living an independent life, said Manish N. Shah, MD, associate professor of pediatric neurosurgery at the University of Texas, Houston, who was not involved in developing the guidelines.
For children in whom physical therapy and medication have not reduced leg spasticity, a minimally invasive spinal procedure can help release contracted tendons and encourage independent walking. The optimal age for selective dorsal rhizotomy is about 4 years, said Dr. Shah, who is director of the Texas Comprehensive Spasticity Center at Children’s Memorial Hermann Hospital in Houston. “You can turn these children into walkers. As adults, they can get jobs, have their own families. It’s life-changing.”
Importantly, the guidelines address the health care disparities leading to a higher prevalence of cerebral palsy in Black children and in those from families with lower socioeconomic status. “Efforts to combat racism and eliminate barriers to culturally sensitive prenatal, perinatal, and later pediatric care may help to improve outcomes for all children with cerebral palsy,” the authors said.
“Every child with cerebral palsy needs an individual plan, but only 30% or 40% are getting interventions,” said Dr. Shah. The updated guidelines could help payers rethink the 15-20 visits a year that are often approved, compared with the 2-3 visits per week that are needed for speech, physical, and occupational therapy, he pointed out.
“Financial issues often compromise the interdisciplinary and coordinated care associated with favorable outcomes in children with cerebral palsy,” said Heidi Feldman, MD, PhD, a developmental and behavioral pediatric specialist at Stanford (Calif.) Medicine Children’s Health’s Johnson Center for Pregnancy and Newborn Services. “With a new guideline, there may be greater willingness to fund these essential services.”
In the meantime, the AAP recommends that pediatricians advise families about available medical, social, and educational services, such as early intervention services, the Title V Maternal and Child Health block grant program, and special education services through the public school system.
Children with cerebral palsy need the same standardized primary care as any child, including the full schedule of recommended vaccinations and vision and hearing testing. They also need to be monitored and treated for the many problems that commonly co-occur, including chronic pain.
When secondary complications arise, the frequency of visits should increase.
Pneumonia, the leading cause of death in children and adolescents with cerebral palsy, can be prevented or minimized through immunization against respiratory diseases and screening for signs and symptoms of aspiration and sleep-disordered breathing.
The AAP also recommends that symptoms or functional declines undergo full investigation into other potential causes.
Since the sedentary lifestyle associated with cerebral palsy is now known to be related to the higher rates of cardiovascular complications in this patient population, the AAP recommends more attention be paid to physical activity and a healthy diet early in life. Pediatricians are advised to help families locate suitable opportunities for adaptive sports and recreation.
Almost 50% of children and adolescents with cerebral palsy have intellectual disability, 60%-80% have difficulty speaking, and about 25% are nonverbal. To address this, pediatricians should maximize the use of augmentative and alternative communication devices and involve experts in speech and language pathology, according to the guidelines.
“Many individuals with cerebral palsy and severe motor limitations have active, creative minds, and may need assistive technology, such as electronic talking devices, to demonstrate that mental life,” said Dr. Feldman. “Primary care clinicians should advocate for assistive technology.”
For challenging behavior, especially in the patient with limited verbal skills, potential nonbehavioral culprits such as constipation, esophageal reflux disease, and musculoskeletal or dental pain must be ruled out.
In the lead-up to adolescence, youth with cerebral palsy must be prepared for puberty, menstruation, and healthy, safe sexual relationships, much like their nonaffected peers. Since a disproportionate number of children with cerebral palsy experience neglect and physical, sexual, and emotional abuse, however, family stressors should be identified and caregivers referred for support services.
For the transition from pediatric to adult health care, the AAP recommends that structured planning begin between 12 and 14 years of age. Before transfer, the pediatrician should prepare a comprehensive medical summary with the input of the patient, parent/guardian, and pediatric subspecialists.
Without a proper handoff, “there is an increased risk of morbidity, medical complications, unnecessary emergency department visits, hospitalizations, and procedures,” the authors warned.
Transitions are likely to run more smoothly when youth are given the opportunity to understand their medical condition and be involved in decisions about their health. With this in mind, the AAP recommends that pediatricians actively discourage overprotective parents from getting in the way of their child developing “maximal independence.”
No potential conflicts of interest were disclosed by the authors, Dr. Shah, or Dr. Feldman.
*This story was updated on Nov. 28, 2022.
Updated clinical guidelines for the early diagnosis and management of cerebral palsy have been issued by the American Academy of Pediatrics.
Coauthored with the American Academy for Cerebral Palsy and Developmental Medicine, the report builds on new evidence for improved care and outcomes since the 2006 consensus guidelines.
Cerebral palsy, the most common neuromotor disorder of childhood, is often accompanied by cognitive impairments, epilepsy, sensory impairments, behavioral problems, communication difficulties, breathing and sleep problems, gastrointestinal and nutritional problems, and bone and orthopedic problems.
In the United States, the estimated prevalence of cerebral palsy ranges from 1.5 to 4 per 1,000 live births.
“Early identification and initiation of evidence-based motor therapies can improve outcomes by taking advantage of the neuroplasticity in the infant brain,” said the guideline authors in an executive summary.
The guideline, published in Pediatrics, is directed to primary care physicians with pediatrics, family practice, or internal medicine training. “It’s a much more comprehensive overview of the important role that primary care providers play in the lifetime care of people with cerebral palsy,” explained Garey Noritz, MD, chair of the 2021-2022 Executive Committee of the Council on Children with Disabilities. Dr. Noritz, a professor of pediatrics at Ohio State University and division chief of the complex health care program at Nationwide Children’s Hospital, both in Columbus, said: “The combined efforts of the primary care physician and specialty providers are needed to achieve the best outcomes.”
The AAP recommends that primary care pediatricians, neonatologists, and other specialists caring for hospitalized newborns recognize those at high risk of cerebral palsy, diagnose them as early as possible, and promptly refer them for therapy. Primary care physicians are advised to identify motor delays early by formalizing standardized developmental surveillance and screening at 9, 18, and 30 months, and to implement family-centered care across multiple specialists.
“If a motor disorder is suspected, primary care physicians should simultaneously begin a medical evaluation, refer to a specialist for definitive diagnosis, and to therapists for treatment,” Dr. Noritz emphasized.
“The earlier any possible movement disorder is recognized and intervention begins, the better a child can develop a gait pattern and work toward living an independent life, said Manish N. Shah, MD, associate professor of pediatric neurosurgery at the University of Texas, Houston, who was not involved in developing the guidelines.
For children in whom physical therapy and medication have not reduced leg spasticity, a minimally invasive spinal procedure can help release contracted tendons and encourage independent walking. The optimal age for selective dorsal rhizotomy is about 4 years, said Dr. Shah, who is director of the Texas Comprehensive Spasticity Center at Children’s Memorial Hermann Hospital in Houston. “You can turn these children into walkers. As adults, they can get jobs, have their own families. It’s life-changing.”
Importantly, the guidelines address the health care disparities leading to a higher prevalence of cerebral palsy in Black children and in those from families with lower socioeconomic status. “Efforts to combat racism and eliminate barriers to culturally sensitive prenatal, perinatal, and later pediatric care may help to improve outcomes for all children with cerebral palsy,” the authors said.
“Every child with cerebral palsy needs an individual plan, but only 30% or 40% are getting interventions,” said Dr. Shah. The updated guidelines could help payers rethink the 15-20 visits a year that are often approved, compared with the 2-3 visits per week that are needed for speech, physical, and occupational therapy, he pointed out.
“Financial issues often compromise the interdisciplinary and coordinated care associated with favorable outcomes in children with cerebral palsy,” said Heidi Feldman, MD, PhD, a developmental and behavioral pediatric specialist at Stanford (Calif.) Medicine Children’s Health’s Johnson Center for Pregnancy and Newborn Services. “With a new guideline, there may be greater willingness to fund these essential services.”
In the meantime, the AAP recommends that pediatricians advise families about available medical, social, and educational services, such as early intervention services, the Title V Maternal and Child Health block grant program, and special education services through the public school system.
Children with cerebral palsy need the same standardized primary care as any child, including the full schedule of recommended vaccinations and vision and hearing testing. They also need to be monitored and treated for the many problems that commonly co-occur, including chronic pain.
When secondary complications arise, the frequency of visits should increase.
Pneumonia, the leading cause of death in children and adolescents with cerebral palsy, can be prevented or minimized through immunization against respiratory diseases and screening for signs and symptoms of aspiration and sleep-disordered breathing.
The AAP also recommends that symptoms or functional declines undergo full investigation into other potential causes.
Since the sedentary lifestyle associated with cerebral palsy is now known to be related to the higher rates of cardiovascular complications in this patient population, the AAP recommends more attention be paid to physical activity and a healthy diet early in life. Pediatricians are advised to help families locate suitable opportunities for adaptive sports and recreation.
Almost 50% of children and adolescents with cerebral palsy have intellectual disability, 60%-80% have difficulty speaking, and about 25% are nonverbal. To address this, pediatricians should maximize the use of augmentative and alternative communication devices and involve experts in speech and language pathology, according to the guidelines.
“Many individuals with cerebral palsy and severe motor limitations have active, creative minds, and may need assistive technology, such as electronic talking devices, to demonstrate that mental life,” said Dr. Feldman. “Primary care clinicians should advocate for assistive technology.”
For challenging behavior, especially in the patient with limited verbal skills, potential nonbehavioral culprits such as constipation, esophageal reflux disease, and musculoskeletal or dental pain must be ruled out.
In the lead-up to adolescence, youth with cerebral palsy must be prepared for puberty, menstruation, and healthy, safe sexual relationships, much like their nonaffected peers. Since a disproportionate number of children with cerebral palsy experience neglect and physical, sexual, and emotional abuse, however, family stressors should be identified and caregivers referred for support services.
For the transition from pediatric to adult health care, the AAP recommends that structured planning begin between 12 and 14 years of age. Before transfer, the pediatrician should prepare a comprehensive medical summary with the input of the patient, parent/guardian, and pediatric subspecialists.
Without a proper handoff, “there is an increased risk of morbidity, medical complications, unnecessary emergency department visits, hospitalizations, and procedures,” the authors warned.
Transitions are likely to run more smoothly when youth are given the opportunity to understand their medical condition and be involved in decisions about their health. With this in mind, the AAP recommends that pediatricians actively discourage overprotective parents from getting in the way of their child developing “maximal independence.”
No potential conflicts of interest were disclosed by the authors, Dr. Shah, or Dr. Feldman.
*This story was updated on Nov. 28, 2022.
FROM PEDIATRICS
Many moms don’t remember well-child nutrition advice
Recent findings from a study examining mothers’ recall of doctors’ advice on early-child nutrition suggest that key feeding messages may not be heard, remembered, or even delivered.
During a typical child wellness visit, pediatricians provide parents with anticipatory guidance on all aspects of child development and safety, up to the age of 5 years.
The analysis of data from a subset of 1,302 mothers participating in the 2017-2019 National Survey of Family Growth showed that those older than 31 years of age and those who identified as non-Hispanic White were more likely to recall discussion of certain child nutrition topics compared with younger mothers or those who identified as Hispanic.
Of the six child-feeding topics referenced from the American Academy of Pediatrics’ “Bright Futures Guidelines,” less than half of the mothers, all of whom had a child between the ages of 6 months and 5 years, recalled guidance on limiting meals in front of the television or other electronic devices. Similarly, fewer than 50% remembered being told not to force their child to finish a bottle or food, the analysis showed.
When it came to the best time to introduce solid foods, 37% didn’t recall being told to wait at least 4 months and preferably, 6 months. In fact, these mothers reported being advised to introduce solid foods before 6 months, said Andrea McGowan, MPH, of the National Center for Chronic Disease Prevention and Health Promotion, U.S. Centers for Disease Control and Prevention, Atlanta, and colleagues.
The study was published in the Journal of Nutrition Education and Behavior.
“All in all, this research draws attention to certain nutrition guidance topics or subpopulations that might be prioritized to improve receipt and recall of guidance,” said Ms. McGowan, now a first-year medical student at the University of Michigan, Ann Arbor, in a podcast. “This research ... implores us to consider ways to revamp the existing standard practice for pediatric well-child care to improve recall of messages.”
The analysis also included data on mothers’ recall of advice on offering foods with different tastes and textures; offering a variety of fruits and vegetables; and limiting added sugar. More than half of mothers remembered discussing four or five child nutrition topics, but 31% recalled talking about only one or two. Offering a variety of fruits and vegetables had the highest percentage of recall.
The study wasn’t powered to determine whether the nutrition guidance provided at a well-child visit was not remembered or not provided, Ms. McGowan said, adding: “So exploring this is definitely the goal of future research.”
However, pediatricians report spending an average of 18 minutes with children and their parents, she noted. “This is definitely not enough time to cover every single topic a pediatrician or a parent might want to discuss.” Other barriers, such as a lack of insurance or transportation, may limit parents’ access to this kind of anticipatory guidance, the researchers said.
Priority should be given to certain topics and to certain mothers, they suggested. “Innovative strategies tailored to families’ needs might alleviate the HCP [health care provider] burden and could enhance parental recall, especially when messaging is culturally relevant and personalized,” Ms. McGowan said.
Two independent experts agreed in interviews. Pediatricians must do their best to tailor advice to each particular family so that parents can engage in the conversation, said Lauren Fiechtner, MD, director of the center for pediatric nutrition at Mass General for Children, Boston. “As the authors suggest, we should seek to understand the cultural relevance of our recommendations and to understand the barriers our patient families might face in implementing our advice,” said Dr. Fiechtner, who is also an assistant professor at Harvard Medical School, also in Boston.
“Much of the instructions we as pediatricians give to parents must be repeated and reinforced,” said Rebecca S. Fisk, MD, a pediatrician at Lenox Hill Hospital, Northwell Health, in New York. Often, the doctor’s advice runs counter to what family and friends recommend, she pointed out. Some parents may believe that “the baby who starts solid food earlier will sleep through the night earlier or that eating in front of the TV relaxes the child or allows them to eat more,” Dr. Fisk explained. In her practice, a nurse goes over her instructions, answers questions, and provides specific examples and written information.
Sometimes, even that’s not enough, Dr. Fisk admitted. “I, myself, have fielded many repeated questions about feeding, when to start, how much to give, and so on, despite printed guidance given to parents at well-child visits.”
This study was funded by the U.S. Centers for Disease Control and Prevention. Ms. McGowan and study coauthors reported having no potential conflicts of interest. Dr. Fiechtner and Dr. Fisk disclosed having no potential conflicts of interest.
Recent findings from a study examining mothers’ recall of doctors’ advice on early-child nutrition suggest that key feeding messages may not be heard, remembered, or even delivered.
During a typical child wellness visit, pediatricians provide parents with anticipatory guidance on all aspects of child development and safety, up to the age of 5 years.
The analysis of data from a subset of 1,302 mothers participating in the 2017-2019 National Survey of Family Growth showed that those older than 31 years of age and those who identified as non-Hispanic White were more likely to recall discussion of certain child nutrition topics compared with younger mothers or those who identified as Hispanic.
Of the six child-feeding topics referenced from the American Academy of Pediatrics’ “Bright Futures Guidelines,” less than half of the mothers, all of whom had a child between the ages of 6 months and 5 years, recalled guidance on limiting meals in front of the television or other electronic devices. Similarly, fewer than 50% remembered being told not to force their child to finish a bottle or food, the analysis showed.
When it came to the best time to introduce solid foods, 37% didn’t recall being told to wait at least 4 months and preferably, 6 months. In fact, these mothers reported being advised to introduce solid foods before 6 months, said Andrea McGowan, MPH, of the National Center for Chronic Disease Prevention and Health Promotion, U.S. Centers for Disease Control and Prevention, Atlanta, and colleagues.
The study was published in the Journal of Nutrition Education and Behavior.
“All in all, this research draws attention to certain nutrition guidance topics or subpopulations that might be prioritized to improve receipt and recall of guidance,” said Ms. McGowan, now a first-year medical student at the University of Michigan, Ann Arbor, in a podcast. “This research ... implores us to consider ways to revamp the existing standard practice for pediatric well-child care to improve recall of messages.”
The analysis also included data on mothers’ recall of advice on offering foods with different tastes and textures; offering a variety of fruits and vegetables; and limiting added sugar. More than half of mothers remembered discussing four or five child nutrition topics, but 31% recalled talking about only one or two. Offering a variety of fruits and vegetables had the highest percentage of recall.
The study wasn’t powered to determine whether the nutrition guidance provided at a well-child visit was not remembered or not provided, Ms. McGowan said, adding: “So exploring this is definitely the goal of future research.”
However, pediatricians report spending an average of 18 minutes with children and their parents, she noted. “This is definitely not enough time to cover every single topic a pediatrician or a parent might want to discuss.” Other barriers, such as a lack of insurance or transportation, may limit parents’ access to this kind of anticipatory guidance, the researchers said.
Priority should be given to certain topics and to certain mothers, they suggested. “Innovative strategies tailored to families’ needs might alleviate the HCP [health care provider] burden and could enhance parental recall, especially when messaging is culturally relevant and personalized,” Ms. McGowan said.
Two independent experts agreed in interviews. Pediatricians must do their best to tailor advice to each particular family so that parents can engage in the conversation, said Lauren Fiechtner, MD, director of the center for pediatric nutrition at Mass General for Children, Boston. “As the authors suggest, we should seek to understand the cultural relevance of our recommendations and to understand the barriers our patient families might face in implementing our advice,” said Dr. Fiechtner, who is also an assistant professor at Harvard Medical School, also in Boston.
“Much of the instructions we as pediatricians give to parents must be repeated and reinforced,” said Rebecca S. Fisk, MD, a pediatrician at Lenox Hill Hospital, Northwell Health, in New York. Often, the doctor’s advice runs counter to what family and friends recommend, she pointed out. Some parents may believe that “the baby who starts solid food earlier will sleep through the night earlier or that eating in front of the TV relaxes the child or allows them to eat more,” Dr. Fisk explained. In her practice, a nurse goes over her instructions, answers questions, and provides specific examples and written information.
Sometimes, even that’s not enough, Dr. Fisk admitted. “I, myself, have fielded many repeated questions about feeding, when to start, how much to give, and so on, despite printed guidance given to parents at well-child visits.”
This study was funded by the U.S. Centers for Disease Control and Prevention. Ms. McGowan and study coauthors reported having no potential conflicts of interest. Dr. Fiechtner and Dr. Fisk disclosed having no potential conflicts of interest.
Recent findings from a study examining mothers’ recall of doctors’ advice on early-child nutrition suggest that key feeding messages may not be heard, remembered, or even delivered.
During a typical child wellness visit, pediatricians provide parents with anticipatory guidance on all aspects of child development and safety, up to the age of 5 years.
The analysis of data from a subset of 1,302 mothers participating in the 2017-2019 National Survey of Family Growth showed that those older than 31 years of age and those who identified as non-Hispanic White were more likely to recall discussion of certain child nutrition topics compared with younger mothers or those who identified as Hispanic.
Of the six child-feeding topics referenced from the American Academy of Pediatrics’ “Bright Futures Guidelines,” less than half of the mothers, all of whom had a child between the ages of 6 months and 5 years, recalled guidance on limiting meals in front of the television or other electronic devices. Similarly, fewer than 50% remembered being told not to force their child to finish a bottle or food, the analysis showed.
When it came to the best time to introduce solid foods, 37% didn’t recall being told to wait at least 4 months and preferably, 6 months. In fact, these mothers reported being advised to introduce solid foods before 6 months, said Andrea McGowan, MPH, of the National Center for Chronic Disease Prevention and Health Promotion, U.S. Centers for Disease Control and Prevention, Atlanta, and colleagues.
The study was published in the Journal of Nutrition Education and Behavior.
“All in all, this research draws attention to certain nutrition guidance topics or subpopulations that might be prioritized to improve receipt and recall of guidance,” said Ms. McGowan, now a first-year medical student at the University of Michigan, Ann Arbor, in a podcast. “This research ... implores us to consider ways to revamp the existing standard practice for pediatric well-child care to improve recall of messages.”
The analysis also included data on mothers’ recall of advice on offering foods with different tastes and textures; offering a variety of fruits and vegetables; and limiting added sugar. More than half of mothers remembered discussing four or five child nutrition topics, but 31% recalled talking about only one or two. Offering a variety of fruits and vegetables had the highest percentage of recall.
The study wasn’t powered to determine whether the nutrition guidance provided at a well-child visit was not remembered or not provided, Ms. McGowan said, adding: “So exploring this is definitely the goal of future research.”
However, pediatricians report spending an average of 18 minutes with children and their parents, she noted. “This is definitely not enough time to cover every single topic a pediatrician or a parent might want to discuss.” Other barriers, such as a lack of insurance or transportation, may limit parents’ access to this kind of anticipatory guidance, the researchers said.
Priority should be given to certain topics and to certain mothers, they suggested. “Innovative strategies tailored to families’ needs might alleviate the HCP [health care provider] burden and could enhance parental recall, especially when messaging is culturally relevant and personalized,” Ms. McGowan said.
Two independent experts agreed in interviews. Pediatricians must do their best to tailor advice to each particular family so that parents can engage in the conversation, said Lauren Fiechtner, MD, director of the center for pediatric nutrition at Mass General for Children, Boston. “As the authors suggest, we should seek to understand the cultural relevance of our recommendations and to understand the barriers our patient families might face in implementing our advice,” said Dr. Fiechtner, who is also an assistant professor at Harvard Medical School, also in Boston.
“Much of the instructions we as pediatricians give to parents must be repeated and reinforced,” said Rebecca S. Fisk, MD, a pediatrician at Lenox Hill Hospital, Northwell Health, in New York. Often, the doctor’s advice runs counter to what family and friends recommend, she pointed out. Some parents may believe that “the baby who starts solid food earlier will sleep through the night earlier or that eating in front of the TV relaxes the child or allows them to eat more,” Dr. Fisk explained. In her practice, a nurse goes over her instructions, answers questions, and provides specific examples and written information.
Sometimes, even that’s not enough, Dr. Fisk admitted. “I, myself, have fielded many repeated questions about feeding, when to start, how much to give, and so on, despite printed guidance given to parents at well-child visits.”
This study was funded by the U.S. Centers for Disease Control and Prevention. Ms. McGowan and study coauthors reported having no potential conflicts of interest. Dr. Fiechtner and Dr. Fisk disclosed having no potential conflicts of interest.
Understanding of capillary malformation characteristics continue to evolve
INDIANAPOLIS – The way Maria C. Garzon, MD, sees it,
“The challenge is, we also use that term to describe a diagnosis,” Dr. Garzon, professor of dermatology and pediatrics at Columbia University, New York, said at the annual meeting of the Society for Pediatric Dermatology. “We have imperfect terminology. We use many different terms like capillary nevi and vascular stain. Instead of port wine stain, we now use the term port wine birthmark, and old terms like nevus flammeus are still used. This leads to diagnostic confusion, and it’s a barrier to developing care guidelines.”
Some capillary malformations, she noted, are benign and fade away while others can cause disfigurement or herald significant medical issues.
Histologically, she continued, not all capillary malformations are composed of capillaries. “Some are composed of postcapillary venules,” she said. “There are also mixed type capillary malformations that include lymphatic tissue, and the capillary malformation of capillary malformation-arteriovenous malformation (CM-AVM) syndrome shares histologic features of evolving AVMs as opposed to classic port wine birthmarks.”
The most recent International Society for the Study of Vascular Anomalies Classification of Vascular Anomalies was published in 2018 and is currently being updated. Other proposed clinical classifications have been published, including one that is diagnosis-specific and includes 20 different types of capillary malformations (J Eur Acad Dermatol Venereol. 2015 29[12]:2295-305, Pediatr Dermatol. 2016;33[6]:570-84).
“There are also syndromic classifications. Another question relates to the role of genomics: Are we ready for a classification that’s based purely on genetic variants, or do we need to incorporate it into existing classifications?” Dr. Garzon said. “Novel testing technologies using cell-free DNA and digital droplet PCR may be used in the future to establish diagnoses.” Genetic variants are found within capillary malformations, and they tend to be associated with three major pathways: the RAS-MAPK/ERK pathway, the PI3K/Akt/mTOR pathway, and the G protein pathway.
The type of capillary malformation that dermatologists and pediatricians most commonly see is nevus simplex, which occurs in 20%-82% of neonates. Other terms used include angel’s kiss, stork bite, salmon patch, nevus flammeus simplex, fading vascular stain, medial telangiectatic nevus, and butterfly mark. “It’s important to differentiate this from a port wine birthmark,” Dr. Garzon said. “This can be challenging when the birthmark is a darker red color. I have cared for patients who were initially thought to have nevus simplex and later found to have Sturge-Weber syndrome.”
Typical locations of nevus simplex include the central forehead/glabella, eyelids, the nape of the neck, scalp (parietal and occipital), nose, lip area (including philtrum), and the back (lumbosacral area and upper back). Most lesions fade/disappear without treatment (J Am Acad Dermatol. 2020;63[5]:805-14). Rare genetic syndromes associated with exaggerated nevus simplex complex include macrocephaly-capillary malformation syndrome and Beckwith-Wiedemann syndrome, “which tells us that this is a heterogeneous group of patients,” she said.
Dr. Garzon added that it’s “incredibly common” to see an eczema flare occurring within a nevus simplex on the nape of the neck. These patients will have a patch of atopic dermatitis that doesn’t get better. “Beneath it is their nevus simplex,” she said. “Remind parents that even after treating the eczema, the pink patch is not going to go away” (Pediatr Rep. 2021;13[1]:131-4).
Meanwhile, the classic port wine birthmark is usually congenital, uniform, and darker red in color. It darkens with maturity and the pattern will correlate with embryonic vasculature. “I am very wary of acquired port wine lesions,” she added. “It’s been described with trauma-related lesions, but early morphea can also mimic a port wine birthmark. You will see this if you’re practicing pediatric dermatology.”
Nearly a decade ago researchers established a link between port wine birthmarks and genetic variants in the GNAQ gene. “We see this in GNA11 as well,” Dr. Garzon said. “These changes are found in isolated port wine stains, and in Sturge-Weber syndrome. We now know that GNAQ drives the formation of large blood vessels through angiopoietin-2,” she noted (Arterioscler Throm Vasc Biol. 2022;42[1]:e27-43).
In general, studies that have examined genotype-phenotype correlations have demonstrated that the classic port wine birthmark is associated with GNAQ while GNA11 variants can be associated with a more reticulated pattern. “But this is not as clearcut as it seems,” she said. Investigators of a recent study showed an association between hypertension and renal anomalies in patients with skin capillary malformations and mosaic GNAQ or GNA11 variants. “This is a new finding,” she said. “Investigators are working to understand this association.”
Port wine birthmarks with the highest risk of Sturge-Weber syndrome include those that involve the forehead, upper eyelid, the midline frontonasal area, the hemifacial area, and median sites. “Patients who have this should be evaluated at birth,” Dr. Garzon said. “You should not delay for 2 months. They should be evaluated by ophthalmology and neurology early.”
The other morphologies commonly seen are “geographic” well-demarcated capillary malformations, which are dark in color. These lesions can be seen in conditions that are associated with genetic variants in PIK3CA (PROS) and include classic Klippel-Trenaunay syndrome, CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, scoliosis/skeletal and spinal) syndrome, and CLAPO (capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of the face and limbs, and partial or generalized overgrowth) syndrome.
“Reticulated stains are much more heterogeneous,” Dr. Garzon said. “They can be localized or widespread. When you see a patient with a widespread reticulated capillary malformation, think about diffuse capillary malformation with overgrowth (DCMO). This condition is clinically and genetically heterogenous with the affected tissue of some patients showing variants in GNA11 while others have variants in PIK3CA. Therefore, a thorough examination at presentation and long-term follow-up is very important.”
Dr. Garzon disclosed that she is a member of the executive board for the International Society for the Study of Vascular Anomalies.
INDIANAPOLIS – The way Maria C. Garzon, MD, sees it,
“The challenge is, we also use that term to describe a diagnosis,” Dr. Garzon, professor of dermatology and pediatrics at Columbia University, New York, said at the annual meeting of the Society for Pediatric Dermatology. “We have imperfect terminology. We use many different terms like capillary nevi and vascular stain. Instead of port wine stain, we now use the term port wine birthmark, and old terms like nevus flammeus are still used. This leads to diagnostic confusion, and it’s a barrier to developing care guidelines.”
Some capillary malformations, she noted, are benign and fade away while others can cause disfigurement or herald significant medical issues.
Histologically, she continued, not all capillary malformations are composed of capillaries. “Some are composed of postcapillary venules,” she said. “There are also mixed type capillary malformations that include lymphatic tissue, and the capillary malformation of capillary malformation-arteriovenous malformation (CM-AVM) syndrome shares histologic features of evolving AVMs as opposed to classic port wine birthmarks.”
The most recent International Society for the Study of Vascular Anomalies Classification of Vascular Anomalies was published in 2018 and is currently being updated. Other proposed clinical classifications have been published, including one that is diagnosis-specific and includes 20 different types of capillary malformations (J Eur Acad Dermatol Venereol. 2015 29[12]:2295-305, Pediatr Dermatol. 2016;33[6]:570-84).
“There are also syndromic classifications. Another question relates to the role of genomics: Are we ready for a classification that’s based purely on genetic variants, or do we need to incorporate it into existing classifications?” Dr. Garzon said. “Novel testing technologies using cell-free DNA and digital droplet PCR may be used in the future to establish diagnoses.” Genetic variants are found within capillary malformations, and they tend to be associated with three major pathways: the RAS-MAPK/ERK pathway, the PI3K/Akt/mTOR pathway, and the G protein pathway.
The type of capillary malformation that dermatologists and pediatricians most commonly see is nevus simplex, which occurs in 20%-82% of neonates. Other terms used include angel’s kiss, stork bite, salmon patch, nevus flammeus simplex, fading vascular stain, medial telangiectatic nevus, and butterfly mark. “It’s important to differentiate this from a port wine birthmark,” Dr. Garzon said. “This can be challenging when the birthmark is a darker red color. I have cared for patients who were initially thought to have nevus simplex and later found to have Sturge-Weber syndrome.”
Typical locations of nevus simplex include the central forehead/glabella, eyelids, the nape of the neck, scalp (parietal and occipital), nose, lip area (including philtrum), and the back (lumbosacral area and upper back). Most lesions fade/disappear without treatment (J Am Acad Dermatol. 2020;63[5]:805-14). Rare genetic syndromes associated with exaggerated nevus simplex complex include macrocephaly-capillary malformation syndrome and Beckwith-Wiedemann syndrome, “which tells us that this is a heterogeneous group of patients,” she said.
Dr. Garzon added that it’s “incredibly common” to see an eczema flare occurring within a nevus simplex on the nape of the neck. These patients will have a patch of atopic dermatitis that doesn’t get better. “Beneath it is their nevus simplex,” she said. “Remind parents that even after treating the eczema, the pink patch is not going to go away” (Pediatr Rep. 2021;13[1]:131-4).
Meanwhile, the classic port wine birthmark is usually congenital, uniform, and darker red in color. It darkens with maturity and the pattern will correlate with embryonic vasculature. “I am very wary of acquired port wine lesions,” she added. “It’s been described with trauma-related lesions, but early morphea can also mimic a port wine birthmark. You will see this if you’re practicing pediatric dermatology.”
Nearly a decade ago researchers established a link between port wine birthmarks and genetic variants in the GNAQ gene. “We see this in GNA11 as well,” Dr. Garzon said. “These changes are found in isolated port wine stains, and in Sturge-Weber syndrome. We now know that GNAQ drives the formation of large blood vessels through angiopoietin-2,” she noted (Arterioscler Throm Vasc Biol. 2022;42[1]:e27-43).
In general, studies that have examined genotype-phenotype correlations have demonstrated that the classic port wine birthmark is associated with GNAQ while GNA11 variants can be associated with a more reticulated pattern. “But this is not as clearcut as it seems,” she said. Investigators of a recent study showed an association between hypertension and renal anomalies in patients with skin capillary malformations and mosaic GNAQ or GNA11 variants. “This is a new finding,” she said. “Investigators are working to understand this association.”
Port wine birthmarks with the highest risk of Sturge-Weber syndrome include those that involve the forehead, upper eyelid, the midline frontonasal area, the hemifacial area, and median sites. “Patients who have this should be evaluated at birth,” Dr. Garzon said. “You should not delay for 2 months. They should be evaluated by ophthalmology and neurology early.”
The other morphologies commonly seen are “geographic” well-demarcated capillary malformations, which are dark in color. These lesions can be seen in conditions that are associated with genetic variants in PIK3CA (PROS) and include classic Klippel-Trenaunay syndrome, CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, scoliosis/skeletal and spinal) syndrome, and CLAPO (capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of the face and limbs, and partial or generalized overgrowth) syndrome.
“Reticulated stains are much more heterogeneous,” Dr. Garzon said. “They can be localized or widespread. When you see a patient with a widespread reticulated capillary malformation, think about diffuse capillary malformation with overgrowth (DCMO). This condition is clinically and genetically heterogenous with the affected tissue of some patients showing variants in GNA11 while others have variants in PIK3CA. Therefore, a thorough examination at presentation and long-term follow-up is very important.”
Dr. Garzon disclosed that she is a member of the executive board for the International Society for the Study of Vascular Anomalies.
INDIANAPOLIS – The way Maria C. Garzon, MD, sees it,
“The challenge is, we also use that term to describe a diagnosis,” Dr. Garzon, professor of dermatology and pediatrics at Columbia University, New York, said at the annual meeting of the Society for Pediatric Dermatology. “We have imperfect terminology. We use many different terms like capillary nevi and vascular stain. Instead of port wine stain, we now use the term port wine birthmark, and old terms like nevus flammeus are still used. This leads to diagnostic confusion, and it’s a barrier to developing care guidelines.”
Some capillary malformations, she noted, are benign and fade away while others can cause disfigurement or herald significant medical issues.
Histologically, she continued, not all capillary malformations are composed of capillaries. “Some are composed of postcapillary venules,” she said. “There are also mixed type capillary malformations that include lymphatic tissue, and the capillary malformation of capillary malformation-arteriovenous malformation (CM-AVM) syndrome shares histologic features of evolving AVMs as opposed to classic port wine birthmarks.”
The most recent International Society for the Study of Vascular Anomalies Classification of Vascular Anomalies was published in 2018 and is currently being updated. Other proposed clinical classifications have been published, including one that is diagnosis-specific and includes 20 different types of capillary malformations (J Eur Acad Dermatol Venereol. 2015 29[12]:2295-305, Pediatr Dermatol. 2016;33[6]:570-84).
“There are also syndromic classifications. Another question relates to the role of genomics: Are we ready for a classification that’s based purely on genetic variants, or do we need to incorporate it into existing classifications?” Dr. Garzon said. “Novel testing technologies using cell-free DNA and digital droplet PCR may be used in the future to establish diagnoses.” Genetic variants are found within capillary malformations, and they tend to be associated with three major pathways: the RAS-MAPK/ERK pathway, the PI3K/Akt/mTOR pathway, and the G protein pathway.
The type of capillary malformation that dermatologists and pediatricians most commonly see is nevus simplex, which occurs in 20%-82% of neonates. Other terms used include angel’s kiss, stork bite, salmon patch, nevus flammeus simplex, fading vascular stain, medial telangiectatic nevus, and butterfly mark. “It’s important to differentiate this from a port wine birthmark,” Dr. Garzon said. “This can be challenging when the birthmark is a darker red color. I have cared for patients who were initially thought to have nevus simplex and later found to have Sturge-Weber syndrome.”
Typical locations of nevus simplex include the central forehead/glabella, eyelids, the nape of the neck, scalp (parietal and occipital), nose, lip area (including philtrum), and the back (lumbosacral area and upper back). Most lesions fade/disappear without treatment (J Am Acad Dermatol. 2020;63[5]:805-14). Rare genetic syndromes associated with exaggerated nevus simplex complex include macrocephaly-capillary malformation syndrome and Beckwith-Wiedemann syndrome, “which tells us that this is a heterogeneous group of patients,” she said.
Dr. Garzon added that it’s “incredibly common” to see an eczema flare occurring within a nevus simplex on the nape of the neck. These patients will have a patch of atopic dermatitis that doesn’t get better. “Beneath it is their nevus simplex,” she said. “Remind parents that even after treating the eczema, the pink patch is not going to go away” (Pediatr Rep. 2021;13[1]:131-4).
Meanwhile, the classic port wine birthmark is usually congenital, uniform, and darker red in color. It darkens with maturity and the pattern will correlate with embryonic vasculature. “I am very wary of acquired port wine lesions,” she added. “It’s been described with trauma-related lesions, but early morphea can also mimic a port wine birthmark. You will see this if you’re practicing pediatric dermatology.”
Nearly a decade ago researchers established a link between port wine birthmarks and genetic variants in the GNAQ gene. “We see this in GNA11 as well,” Dr. Garzon said. “These changes are found in isolated port wine stains, and in Sturge-Weber syndrome. We now know that GNAQ drives the formation of large blood vessels through angiopoietin-2,” she noted (Arterioscler Throm Vasc Biol. 2022;42[1]:e27-43).
In general, studies that have examined genotype-phenotype correlations have demonstrated that the classic port wine birthmark is associated with GNAQ while GNA11 variants can be associated with a more reticulated pattern. “But this is not as clearcut as it seems,” she said. Investigators of a recent study showed an association between hypertension and renal anomalies in patients with skin capillary malformations and mosaic GNAQ or GNA11 variants. “This is a new finding,” she said. “Investigators are working to understand this association.”
Port wine birthmarks with the highest risk of Sturge-Weber syndrome include those that involve the forehead, upper eyelid, the midline frontonasal area, the hemifacial area, and median sites. “Patients who have this should be evaluated at birth,” Dr. Garzon said. “You should not delay for 2 months. They should be evaluated by ophthalmology and neurology early.”
The other morphologies commonly seen are “geographic” well-demarcated capillary malformations, which are dark in color. These lesions can be seen in conditions that are associated with genetic variants in PIK3CA (PROS) and include classic Klippel-Trenaunay syndrome, CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, scoliosis/skeletal and spinal) syndrome, and CLAPO (capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of the face and limbs, and partial or generalized overgrowth) syndrome.
“Reticulated stains are much more heterogeneous,” Dr. Garzon said. “They can be localized or widespread. When you see a patient with a widespread reticulated capillary malformation, think about diffuse capillary malformation with overgrowth (DCMO). This condition is clinically and genetically heterogenous with the affected tissue of some patients showing variants in GNA11 while others have variants in PIK3CA. Therefore, a thorough examination at presentation and long-term follow-up is very important.”
Dr. Garzon disclosed that she is a member of the executive board for the International Society for the Study of Vascular Anomalies.
AT SPD 2022
Connected: Preterm infant program makes progress
Martha Welch, MD, spent the better part of three decades in private practice treating children with emotional, behavioral, and developmental disorders before accepting a job on the faculty of Columbia University, New York, in 1997.
She took the position, she said, with a mission: to find evidence to support what she’d observed in her practice – that parents could, by making stronger emotional connections, change the trajectory of development for preemie infants.
With that understanding, Dr. Welch created Family Nurture Intervention (FNI), which has been shown to improve the development of premature babies.
“We saw that no matter what happened to the baby, no matter how avoidant the baby might be, we’re able to overcome this with emotional expression,” Dr. Welch said.
Over the course of the intervention, families work with a specialist who helps bring mother and baby together – both physically and emotionally – until both are calm, which can initially take several hours and over time, minutes.
FNI appears to help families – especially mothers – re-establish an emotional connection often interrupted by their babies’ stressful and uncertain stay in a neonatal intensive care unit (NICU). In turn, both the infant and maternal nervous systems become better regulated, according to researchers.
Early challenges
Babies born preterm can face a range of short-term and long-term challenges, such as breathing problems due to an underdeveloped respiratory system, an increased risk of infection from an underdeveloped immune system, and learning difficulties, according to the Mayo Clinic.
Many aspects of FNI are not new: The neonatal intensive care unit has long incorporated activities such as scent cloth exchanges, talking to the baby, and skin-to-skin contact. But the approach Dr. Welch and her colleagues advocate emphasizes building a bond between the mother and the infant.
Mounting evidence shows that FNI can improve a wide range of outcomes for premature babies. In a 2021 study, for example, Dr. Welch’s group showed that FNI was associated with lower heart rates among preemies in the NICU. A 2016 study linked the intervention to reduced depression and anxiety symptoms in mothers of preterm infants. And a 2015 randomized controlled trial showed FNI improved development and behavioral outcomes in infants up to 18 months.
A new study published in Science Translational Medicine showed that the intervention led to a greater likelihood that babies had improved cognitive development later on, narrowing the developmental gap between healthy, full-term babies.
Dr. Welch and her colleagues tested to see if FNI measurably changed brain development in preterm infants who were born at 26-34 weeks of a pregnancy.
“We were blown away by the strength of the effect,” said Pauliina Yrjölä, MSc, a doctoral student and medical physicist at the University of Helsinki, who led the study on which Dr. Welch is a co-author.
Mothers in the intervention group made as much eye contact with the infants as possible and spoke with infants about their feelings.
Intimate sensory interactions between mothers and infants physically altered infants’ cortical networks in the brain and was later correlated to improved neurocognitive performance, according to the researchers.
“I was convinced there were physiological changes; I knew that from my clinical work,” Dr. Welch said. “I wanted to show it in this concrete, scientific way.”
Preterm babies face many hurdles
“If we can prevent problems in brain network organization to the extent that’s shown in this study and improve their outcomes, this is worth millions of dollars in terms of cost to society, schooling, health care, especially education, and families,” said Ruth Grunau, PhD, a professor in the Division of Neonatology in the department of pediatrics at the University of British Columbia, Vancouver, who was not involved with the most recent study but has worked with Dr. Welch previously.
Babies born too early, especially before 32 weeks, have higher rates of death and disability, according to the Centers for Disease Control and Prevention.
And preterm babies overall may experience breathing problems and feeding difficulties almost immediately following birth. They may also experience long-term problems such as developmental delays, vision problems, and hearing problems.
Dr. Grunau said that while many other programs and interventions have been used in the neonatal intensive care unit to help infants and mothers, the results from FNI stand out.
Ms. Yrjölä said she was surprised by the strength of the correlation as the infants continued to develop. The infants receiving the Family Nurture Intervention showed brain development close to the control group, which was infants born at full-term.
“Emotional connection is a state, not a trait – and a state can be changed,” said Dr. Welch. “And in this case, it can be changed by the parent through emotional expression.”
Steps clinicians can take
Dr. Welch said the approach is highly scalable, and two NICUs that participated in the FNI studies have implemented the program as standard care.
The approach is also gaining interest outside of the clinical setting, as preschool partners have expressed interest in implementing some of the methods to promote development.
Parents, family members, and teachers can use many of the FNI techniques – such as eye contact and emotional expression – to continue to develop and strengthen connection.
For clinicians who want to implement parts of the intervention on their own, Dr. Welch said doctors can observe if the baby looks at or turns toward their mother.
Clinicians can encourage mothers to express deep, emotional feelings toward the infant. Dr. Welch stressed that feelings don’t have to be positive, as many mothers with babies in the NICU have a hard time expressing positive emotions. Crying or talking about the difficulties of their childbirth experience count as expressing emotion. The important part is that the baby hears emotion, of any kind, in the mother’s voice, Dr. Welch said.
As the connection develops, it will eventually take less time for the mother and the baby to form a bond, and eventually the pair will become autonomically regulated.
“This is what gives us hope,” she said. “We affect each other in our autonomic nervous systems. It’s why this treatment works.”
The study was funded by the Finnish Pediatric Foundation, The Finnish Academy, the Juselius Foundation, Aivosäätiö, Neuroscience Center at University of Helsinki and Helsinki University Central Hospital, gifts from the Einhorn Family Charitable Trust, the Fleur Fairman Family, M. D. Stephenson, and The National Health and Medical Research Council of Australia. The authors have disclosed no relevant financial relationships.
A version of this article first appeared on Medscape.com.
Martha Welch, MD, spent the better part of three decades in private practice treating children with emotional, behavioral, and developmental disorders before accepting a job on the faculty of Columbia University, New York, in 1997.
She took the position, she said, with a mission: to find evidence to support what she’d observed in her practice – that parents could, by making stronger emotional connections, change the trajectory of development for preemie infants.
With that understanding, Dr. Welch created Family Nurture Intervention (FNI), which has been shown to improve the development of premature babies.
“We saw that no matter what happened to the baby, no matter how avoidant the baby might be, we’re able to overcome this with emotional expression,” Dr. Welch said.
Over the course of the intervention, families work with a specialist who helps bring mother and baby together – both physically and emotionally – until both are calm, which can initially take several hours and over time, minutes.
FNI appears to help families – especially mothers – re-establish an emotional connection often interrupted by their babies’ stressful and uncertain stay in a neonatal intensive care unit (NICU). In turn, both the infant and maternal nervous systems become better regulated, according to researchers.
Early challenges
Babies born preterm can face a range of short-term and long-term challenges, such as breathing problems due to an underdeveloped respiratory system, an increased risk of infection from an underdeveloped immune system, and learning difficulties, according to the Mayo Clinic.
Many aspects of FNI are not new: The neonatal intensive care unit has long incorporated activities such as scent cloth exchanges, talking to the baby, and skin-to-skin contact. But the approach Dr. Welch and her colleagues advocate emphasizes building a bond between the mother and the infant.
Mounting evidence shows that FNI can improve a wide range of outcomes for premature babies. In a 2021 study, for example, Dr. Welch’s group showed that FNI was associated with lower heart rates among preemies in the NICU. A 2016 study linked the intervention to reduced depression and anxiety symptoms in mothers of preterm infants. And a 2015 randomized controlled trial showed FNI improved development and behavioral outcomes in infants up to 18 months.
A new study published in Science Translational Medicine showed that the intervention led to a greater likelihood that babies had improved cognitive development later on, narrowing the developmental gap between healthy, full-term babies.
Dr. Welch and her colleagues tested to see if FNI measurably changed brain development in preterm infants who were born at 26-34 weeks of a pregnancy.
“We were blown away by the strength of the effect,” said Pauliina Yrjölä, MSc, a doctoral student and medical physicist at the University of Helsinki, who led the study on which Dr. Welch is a co-author.
Mothers in the intervention group made as much eye contact with the infants as possible and spoke with infants about their feelings.
Intimate sensory interactions between mothers and infants physically altered infants’ cortical networks in the brain and was later correlated to improved neurocognitive performance, according to the researchers.
“I was convinced there were physiological changes; I knew that from my clinical work,” Dr. Welch said. “I wanted to show it in this concrete, scientific way.”
Preterm babies face many hurdles
“If we can prevent problems in brain network organization to the extent that’s shown in this study and improve their outcomes, this is worth millions of dollars in terms of cost to society, schooling, health care, especially education, and families,” said Ruth Grunau, PhD, a professor in the Division of Neonatology in the department of pediatrics at the University of British Columbia, Vancouver, who was not involved with the most recent study but has worked with Dr. Welch previously.
Babies born too early, especially before 32 weeks, have higher rates of death and disability, according to the Centers for Disease Control and Prevention.
And preterm babies overall may experience breathing problems and feeding difficulties almost immediately following birth. They may also experience long-term problems such as developmental delays, vision problems, and hearing problems.
Dr. Grunau said that while many other programs and interventions have been used in the neonatal intensive care unit to help infants and mothers, the results from FNI stand out.
Ms. Yrjölä said she was surprised by the strength of the correlation as the infants continued to develop. The infants receiving the Family Nurture Intervention showed brain development close to the control group, which was infants born at full-term.
“Emotional connection is a state, not a trait – and a state can be changed,” said Dr. Welch. “And in this case, it can be changed by the parent through emotional expression.”
Steps clinicians can take
Dr. Welch said the approach is highly scalable, and two NICUs that participated in the FNI studies have implemented the program as standard care.
The approach is also gaining interest outside of the clinical setting, as preschool partners have expressed interest in implementing some of the methods to promote development.
Parents, family members, and teachers can use many of the FNI techniques – such as eye contact and emotional expression – to continue to develop and strengthen connection.
For clinicians who want to implement parts of the intervention on their own, Dr. Welch said doctors can observe if the baby looks at or turns toward their mother.
Clinicians can encourage mothers to express deep, emotional feelings toward the infant. Dr. Welch stressed that feelings don’t have to be positive, as many mothers with babies in the NICU have a hard time expressing positive emotions. Crying or talking about the difficulties of their childbirth experience count as expressing emotion. The important part is that the baby hears emotion, of any kind, in the mother’s voice, Dr. Welch said.
As the connection develops, it will eventually take less time for the mother and the baby to form a bond, and eventually the pair will become autonomically regulated.
“This is what gives us hope,” she said. “We affect each other in our autonomic nervous systems. It’s why this treatment works.”
The study was funded by the Finnish Pediatric Foundation, The Finnish Academy, the Juselius Foundation, Aivosäätiö, Neuroscience Center at University of Helsinki and Helsinki University Central Hospital, gifts from the Einhorn Family Charitable Trust, the Fleur Fairman Family, M. D. Stephenson, and The National Health and Medical Research Council of Australia. The authors have disclosed no relevant financial relationships.
A version of this article first appeared on Medscape.com.
Martha Welch, MD, spent the better part of three decades in private practice treating children with emotional, behavioral, and developmental disorders before accepting a job on the faculty of Columbia University, New York, in 1997.
She took the position, she said, with a mission: to find evidence to support what she’d observed in her practice – that parents could, by making stronger emotional connections, change the trajectory of development for preemie infants.
With that understanding, Dr. Welch created Family Nurture Intervention (FNI), which has been shown to improve the development of premature babies.
“We saw that no matter what happened to the baby, no matter how avoidant the baby might be, we’re able to overcome this with emotional expression,” Dr. Welch said.
Over the course of the intervention, families work with a specialist who helps bring mother and baby together – both physically and emotionally – until both are calm, which can initially take several hours and over time, minutes.
FNI appears to help families – especially mothers – re-establish an emotional connection often interrupted by their babies’ stressful and uncertain stay in a neonatal intensive care unit (NICU). In turn, both the infant and maternal nervous systems become better regulated, according to researchers.
Early challenges
Babies born preterm can face a range of short-term and long-term challenges, such as breathing problems due to an underdeveloped respiratory system, an increased risk of infection from an underdeveloped immune system, and learning difficulties, according to the Mayo Clinic.
Many aspects of FNI are not new: The neonatal intensive care unit has long incorporated activities such as scent cloth exchanges, talking to the baby, and skin-to-skin contact. But the approach Dr. Welch and her colleagues advocate emphasizes building a bond between the mother and the infant.
Mounting evidence shows that FNI can improve a wide range of outcomes for premature babies. In a 2021 study, for example, Dr. Welch’s group showed that FNI was associated with lower heart rates among preemies in the NICU. A 2016 study linked the intervention to reduced depression and anxiety symptoms in mothers of preterm infants. And a 2015 randomized controlled trial showed FNI improved development and behavioral outcomes in infants up to 18 months.
A new study published in Science Translational Medicine showed that the intervention led to a greater likelihood that babies had improved cognitive development later on, narrowing the developmental gap between healthy, full-term babies.
Dr. Welch and her colleagues tested to see if FNI measurably changed brain development in preterm infants who were born at 26-34 weeks of a pregnancy.
“We were blown away by the strength of the effect,” said Pauliina Yrjölä, MSc, a doctoral student and medical physicist at the University of Helsinki, who led the study on which Dr. Welch is a co-author.
Mothers in the intervention group made as much eye contact with the infants as possible and spoke with infants about their feelings.
Intimate sensory interactions between mothers and infants physically altered infants’ cortical networks in the brain and was later correlated to improved neurocognitive performance, according to the researchers.
“I was convinced there were physiological changes; I knew that from my clinical work,” Dr. Welch said. “I wanted to show it in this concrete, scientific way.”
Preterm babies face many hurdles
“If we can prevent problems in brain network organization to the extent that’s shown in this study and improve their outcomes, this is worth millions of dollars in terms of cost to society, schooling, health care, especially education, and families,” said Ruth Grunau, PhD, a professor in the Division of Neonatology in the department of pediatrics at the University of British Columbia, Vancouver, who was not involved with the most recent study but has worked with Dr. Welch previously.
Babies born too early, especially before 32 weeks, have higher rates of death and disability, according to the Centers for Disease Control and Prevention.
And preterm babies overall may experience breathing problems and feeding difficulties almost immediately following birth. They may also experience long-term problems such as developmental delays, vision problems, and hearing problems.
Dr. Grunau said that while many other programs and interventions have been used in the neonatal intensive care unit to help infants and mothers, the results from FNI stand out.
Ms. Yrjölä said she was surprised by the strength of the correlation as the infants continued to develop. The infants receiving the Family Nurture Intervention showed brain development close to the control group, which was infants born at full-term.
“Emotional connection is a state, not a trait – and a state can be changed,” said Dr. Welch. “And in this case, it can be changed by the parent through emotional expression.”
Steps clinicians can take
Dr. Welch said the approach is highly scalable, and two NICUs that participated in the FNI studies have implemented the program as standard care.
The approach is also gaining interest outside of the clinical setting, as preschool partners have expressed interest in implementing some of the methods to promote development.
Parents, family members, and teachers can use many of the FNI techniques – such as eye contact and emotional expression – to continue to develop and strengthen connection.
For clinicians who want to implement parts of the intervention on their own, Dr. Welch said doctors can observe if the baby looks at or turns toward their mother.
Clinicians can encourage mothers to express deep, emotional feelings toward the infant. Dr. Welch stressed that feelings don’t have to be positive, as many mothers with babies in the NICU have a hard time expressing positive emotions. Crying or talking about the difficulties of their childbirth experience count as expressing emotion. The important part is that the baby hears emotion, of any kind, in the mother’s voice, Dr. Welch said.
As the connection develops, it will eventually take less time for the mother and the baby to form a bond, and eventually the pair will become autonomically regulated.
“This is what gives us hope,” she said. “We affect each other in our autonomic nervous systems. It’s why this treatment works.”
The study was funded by the Finnish Pediatric Foundation, The Finnish Academy, the Juselius Foundation, Aivosäätiö, Neuroscience Center at University of Helsinki and Helsinki University Central Hospital, gifts from the Einhorn Family Charitable Trust, the Fleur Fairman Family, M. D. Stephenson, and The National Health and Medical Research Council of Australia. The authors have disclosed no relevant financial relationships.
A version of this article first appeared on Medscape.com.
Nurse accused of murdering babies in her neonatal unit
Lucy Letby, 32, who worked at the Countess of Chester Hospital, is accused of multiple baby murders in the hospital’s neonatal unit from June 2015 to June 2016. She denies all charges.
Manchester Crown Court heard how Ms. Letby allegedly attempted to kill the children by injecting them with air, milk, or insulin, including two brothers from a set of triplets and one premature baby girl, who was only 98 minutes old.
Prosecutor Nicholas Johnson KC said the circumstances of the girl’s death were “an extreme example even by the standards of this case.”
“There were four separate occasions on which we allege Lucy Letby tried to kill her,” he said. “But ultimately at the fourth attempt, Lucy Letby succeeded in killing her.”
Attempts to murder the child ‘cold-blooded’ and ‘calculated’, says prosecutor
In the first alleged attempt, Ms. Letby injected the girl, identified for legal reasons as Child I, with air, but she was “resilient,” said Mr. Johnson. After the second attempt, Ms. Letby had stood in the doorway of Child I’s darkened room and commented that she looked pale. The designated nurse then approached and turned on the light, noticing that the child wasn’t breathing. After a third attempt the child was found to have excess air in her stomach, which had affected her breathing. Child I was then transferred to Arrowe Park Hospital, where she was stabilized before she was returned to Chester.
After the fourth attempt, Child I’s medical alarm rang, leading a nurse to spot Ms. Letby by the child’s incubator. Child I died that morning, said Mr. Johnson, who described the nurse’s attacks as premeditated. “It was persistent, it was calculated, and it was cold-blooded.”
The judge, Mr. Justice Goss, and jury heard how shortly after the parents were told of their child’s death, Ms. Letby approached the mother, who testified that the nurse was “smiling and kept going on about how she was present at the baby’s first bath and how much the baby had loved it.” She also sent a sympathy card to the parents, and the prosecutor says she kept an image of the card on her phone.
Doctor interrupted another alleged attempt
Dr. Ravi Jayaram, a paediatric consultant, had become suspicious of Ms. Letby in a number of unexplained child deaths. He later interrupted her as she allegedly tried to kill another baby, identified as Child K. He noticed that the nurse was alone with the baby and walked into the room, seeing Ms. Letby standing over the child’s incubator. He was “uncomfortable” as he had “started to notice a coincidence between unexplained deaths, serious collapses, and the presence of Lucy Letby,” said the prosecutor.
“Dr. Jayaram could see from the monitor on the wall that Child K’s oxygen saturation level was falling dangerously low, to somewhere in the 80s,” said Mr. Johnson. “He said an alarm should have been sounding as Child K’s oxygen levels were falling.” Despite this, the nurse had not called for assistance.
“We allege she was trying to kill Child K when Dr. Jayaram walked in,” Mr. Johnson said, adding that the child’s breathing tube was found dislodged. The prosecutor said it was possible for this to happen in an active baby, but Child K was very premature and had been sedated.
Despite his concerns, Dr. Jayaram did not make a note of his suspicions. Later that morning, Ms. Letby was again at Child K’s incubator calling for help. The nurse was assisting the baby with her breathing and the breathing tube was found to have slipped too far into her throat. The child was transferred to another hospital but later died. Ms. Letby is not accused of Child K’s murder.
However, after the death of Child K, Ms. Letby was moved to day shifts “because the consultants were concerned about the correlation between her presence and unexpected deaths and life-threatening episodes on the night shifts,” said Mr. Johnson. She was removed from the neonatal ward in June 2016 and moved to clerical duties where she would not come into contact with children.
Post-it note: Admission or anguish?
At the end of the prosecution’s presentation, Mr. Johnson mentioned a Post-it on which Ms. Letby had written, “I AM EVIL I DID THIS.” In the defense’s opening statements, Ben Myers KC, said the note was an “anguished outpouring of a young woman in fear and despair when she realises the enormity of what’s being said about her, in a moment to herself.”
He added that the nurse was dealing with employment issues at the time it was written, including a grievance procedure with the NHS Trust where she worked. Another note was shown on screens to the jury, which read: “Not good enough. I’m an awful person. I will never have children or marry. Despair.” and “I haven’t done anything wrong.”
Mr. Myers said that Ms. Letby was the type of person who often scribbles things down and the note was “nothing more extraordinary than that.”
In presenting the defense case, Mr. Myers argued that there was no evidence of Letby hurting the children, and that the prosecution’s case was “driven by the assumption that someone was doing deliberate harm” and that this was combined with “coincidence on certain occasions of Miss Letby’s presence.”
“What it isn’t driven by is evidence of Miss Letby actually doing what is alleged against her,” he added.
“There is a real danger that people will simply accept the prosecution theory of guilt, and that’s all we have so far,” Mr. Myers said. “A theory of guilt based firmly on coincidence – if anything can be based firmly on coincidence.”
A version of this article first appeared on Medscape UK.
Lucy Letby, 32, who worked at the Countess of Chester Hospital, is accused of multiple baby murders in the hospital’s neonatal unit from June 2015 to June 2016. She denies all charges.
Manchester Crown Court heard how Ms. Letby allegedly attempted to kill the children by injecting them with air, milk, or insulin, including two brothers from a set of triplets and one premature baby girl, who was only 98 minutes old.
Prosecutor Nicholas Johnson KC said the circumstances of the girl’s death were “an extreme example even by the standards of this case.”
“There were four separate occasions on which we allege Lucy Letby tried to kill her,” he said. “But ultimately at the fourth attempt, Lucy Letby succeeded in killing her.”
Attempts to murder the child ‘cold-blooded’ and ‘calculated’, says prosecutor
In the first alleged attempt, Ms. Letby injected the girl, identified for legal reasons as Child I, with air, but she was “resilient,” said Mr. Johnson. After the second attempt, Ms. Letby had stood in the doorway of Child I’s darkened room and commented that she looked pale. The designated nurse then approached and turned on the light, noticing that the child wasn’t breathing. After a third attempt the child was found to have excess air in her stomach, which had affected her breathing. Child I was then transferred to Arrowe Park Hospital, where she was stabilized before she was returned to Chester.
After the fourth attempt, Child I’s medical alarm rang, leading a nurse to spot Ms. Letby by the child’s incubator. Child I died that morning, said Mr. Johnson, who described the nurse’s attacks as premeditated. “It was persistent, it was calculated, and it was cold-blooded.”
The judge, Mr. Justice Goss, and jury heard how shortly after the parents were told of their child’s death, Ms. Letby approached the mother, who testified that the nurse was “smiling and kept going on about how she was present at the baby’s first bath and how much the baby had loved it.” She also sent a sympathy card to the parents, and the prosecutor says she kept an image of the card on her phone.
Doctor interrupted another alleged attempt
Dr. Ravi Jayaram, a paediatric consultant, had become suspicious of Ms. Letby in a number of unexplained child deaths. He later interrupted her as she allegedly tried to kill another baby, identified as Child K. He noticed that the nurse was alone with the baby and walked into the room, seeing Ms. Letby standing over the child’s incubator. He was “uncomfortable” as he had “started to notice a coincidence between unexplained deaths, serious collapses, and the presence of Lucy Letby,” said the prosecutor.
“Dr. Jayaram could see from the monitor on the wall that Child K’s oxygen saturation level was falling dangerously low, to somewhere in the 80s,” said Mr. Johnson. “He said an alarm should have been sounding as Child K’s oxygen levels were falling.” Despite this, the nurse had not called for assistance.
“We allege she was trying to kill Child K when Dr. Jayaram walked in,” Mr. Johnson said, adding that the child’s breathing tube was found dislodged. The prosecutor said it was possible for this to happen in an active baby, but Child K was very premature and had been sedated.
Despite his concerns, Dr. Jayaram did not make a note of his suspicions. Later that morning, Ms. Letby was again at Child K’s incubator calling for help. The nurse was assisting the baby with her breathing and the breathing tube was found to have slipped too far into her throat. The child was transferred to another hospital but later died. Ms. Letby is not accused of Child K’s murder.
However, after the death of Child K, Ms. Letby was moved to day shifts “because the consultants were concerned about the correlation between her presence and unexpected deaths and life-threatening episodes on the night shifts,” said Mr. Johnson. She was removed from the neonatal ward in June 2016 and moved to clerical duties where she would not come into contact with children.
Post-it note: Admission or anguish?
At the end of the prosecution’s presentation, Mr. Johnson mentioned a Post-it on which Ms. Letby had written, “I AM EVIL I DID THIS.” In the defense’s opening statements, Ben Myers KC, said the note was an “anguished outpouring of a young woman in fear and despair when she realises the enormity of what’s being said about her, in a moment to herself.”
He added that the nurse was dealing with employment issues at the time it was written, including a grievance procedure with the NHS Trust where she worked. Another note was shown on screens to the jury, which read: “Not good enough. I’m an awful person. I will never have children or marry. Despair.” and “I haven’t done anything wrong.”
Mr. Myers said that Ms. Letby was the type of person who often scribbles things down and the note was “nothing more extraordinary than that.”
In presenting the defense case, Mr. Myers argued that there was no evidence of Letby hurting the children, and that the prosecution’s case was “driven by the assumption that someone was doing deliberate harm” and that this was combined with “coincidence on certain occasions of Miss Letby’s presence.”
“What it isn’t driven by is evidence of Miss Letby actually doing what is alleged against her,” he added.
“There is a real danger that people will simply accept the prosecution theory of guilt, and that’s all we have so far,” Mr. Myers said. “A theory of guilt based firmly on coincidence – if anything can be based firmly on coincidence.”
A version of this article first appeared on Medscape UK.
Lucy Letby, 32, who worked at the Countess of Chester Hospital, is accused of multiple baby murders in the hospital’s neonatal unit from June 2015 to June 2016. She denies all charges.
Manchester Crown Court heard how Ms. Letby allegedly attempted to kill the children by injecting them with air, milk, or insulin, including two brothers from a set of triplets and one premature baby girl, who was only 98 minutes old.
Prosecutor Nicholas Johnson KC said the circumstances of the girl’s death were “an extreme example even by the standards of this case.”
“There were four separate occasions on which we allege Lucy Letby tried to kill her,” he said. “But ultimately at the fourth attempt, Lucy Letby succeeded in killing her.”
Attempts to murder the child ‘cold-blooded’ and ‘calculated’, says prosecutor
In the first alleged attempt, Ms. Letby injected the girl, identified for legal reasons as Child I, with air, but she was “resilient,” said Mr. Johnson. After the second attempt, Ms. Letby had stood in the doorway of Child I’s darkened room and commented that she looked pale. The designated nurse then approached and turned on the light, noticing that the child wasn’t breathing. After a third attempt the child was found to have excess air in her stomach, which had affected her breathing. Child I was then transferred to Arrowe Park Hospital, where she was stabilized before she was returned to Chester.
After the fourth attempt, Child I’s medical alarm rang, leading a nurse to spot Ms. Letby by the child’s incubator. Child I died that morning, said Mr. Johnson, who described the nurse’s attacks as premeditated. “It was persistent, it was calculated, and it was cold-blooded.”
The judge, Mr. Justice Goss, and jury heard how shortly after the parents were told of their child’s death, Ms. Letby approached the mother, who testified that the nurse was “smiling and kept going on about how she was present at the baby’s first bath and how much the baby had loved it.” She also sent a sympathy card to the parents, and the prosecutor says she kept an image of the card on her phone.
Doctor interrupted another alleged attempt
Dr. Ravi Jayaram, a paediatric consultant, had become suspicious of Ms. Letby in a number of unexplained child deaths. He later interrupted her as she allegedly tried to kill another baby, identified as Child K. He noticed that the nurse was alone with the baby and walked into the room, seeing Ms. Letby standing over the child’s incubator. He was “uncomfortable” as he had “started to notice a coincidence between unexplained deaths, serious collapses, and the presence of Lucy Letby,” said the prosecutor.
“Dr. Jayaram could see from the monitor on the wall that Child K’s oxygen saturation level was falling dangerously low, to somewhere in the 80s,” said Mr. Johnson. “He said an alarm should have been sounding as Child K’s oxygen levels were falling.” Despite this, the nurse had not called for assistance.
“We allege she was trying to kill Child K when Dr. Jayaram walked in,” Mr. Johnson said, adding that the child’s breathing tube was found dislodged. The prosecutor said it was possible for this to happen in an active baby, but Child K was very premature and had been sedated.
Despite his concerns, Dr. Jayaram did not make a note of his suspicions. Later that morning, Ms. Letby was again at Child K’s incubator calling for help. The nurse was assisting the baby with her breathing and the breathing tube was found to have slipped too far into her throat. The child was transferred to another hospital but later died. Ms. Letby is not accused of Child K’s murder.
However, after the death of Child K, Ms. Letby was moved to day shifts “because the consultants were concerned about the correlation between her presence and unexpected deaths and life-threatening episodes on the night shifts,” said Mr. Johnson. She was removed from the neonatal ward in June 2016 and moved to clerical duties where she would not come into contact with children.
Post-it note: Admission or anguish?
At the end of the prosecution’s presentation, Mr. Johnson mentioned a Post-it on which Ms. Letby had written, “I AM EVIL I DID THIS.” In the defense’s opening statements, Ben Myers KC, said the note was an “anguished outpouring of a young woman in fear and despair when she realises the enormity of what’s being said about her, in a moment to herself.”
He added that the nurse was dealing with employment issues at the time it was written, including a grievance procedure with the NHS Trust where she worked. Another note was shown on screens to the jury, which read: “Not good enough. I’m an awful person. I will never have children or marry. Despair.” and “I haven’t done anything wrong.”
Mr. Myers said that Ms. Letby was the type of person who often scribbles things down and the note was “nothing more extraordinary than that.”
In presenting the defense case, Mr. Myers argued that there was no evidence of Letby hurting the children, and that the prosecution’s case was “driven by the assumption that someone was doing deliberate harm” and that this was combined with “coincidence on certain occasions of Miss Letby’s presence.”
“What it isn’t driven by is evidence of Miss Letby actually doing what is alleged against her,” he added.
“There is a real danger that people will simply accept the prosecution theory of guilt, and that’s all we have so far,” Mr. Myers said. “A theory of guilt based firmly on coincidence – if anything can be based firmly on coincidence.”
A version of this article first appeared on Medscape UK.
With sleuth work, pediatricians can identify genetic disorders
Jennifer Kalish, MD, PhD, fields as many as 10 inquiries a month from pediatricians who spot an unusual feature during a clinical exam, and wonder if they should refer the family to a geneticist.
“There are hundreds of rare disorders, and for a pediatrician, they can be hard to recognize,” Dr. Kalish said. “That’s why we’re here as geneticists – to partner so that we can help.”
Pediatricians play a key role in spotting signs of rare genetic diseases, but may need guidance for recognizing the more subtle presentations of a disorder, according to Dr. Kalish, a geneticist and director of the Beckwith-Wiedemann Syndrome Clinic at Children’s Hospital of Philadelphia, who spoke at the American Academy of Pediatrics National Conference.
Spectrums of disease
Pediatricians may struggle with deciding whether to make a referral, in part because genetic syndromes “do not always look like the textbook,” she said.
With many conditions, “we’re starting to understand that there’s really a spectrum of how affected versus less affected one can be,” by genetic and epigenetic changes, which have led to recognition that many cases are more subtle and harder to diagnose, she said.
Beckwith-Wiedemann syndrome is a prime example. The overgrowth disorder affects an estimated 1 in 10,340 infants, and is associated with a heightened risk of Wilms tumors, a form of kidney cancer, and hepatoblastomas. Children diagnosed with these conditions typically undergo frequent screenings to detect tumors to jumpstart treatment.
Some researchers believe Beckwith-Wiedemann syndrome is underdiagnosed because it can present in many different ways because of variations in the distributions of affected cells in the body, known as mosaicism.
To address the complexity, Dr. Kalish guided development of a scoring system for determining whether molecular testing is warranted. Primary features such as an enlarged tongue and lateralized overgrowth carry more points, whereas suggestive features like ear creases or large birth weight carry fewer points.
Diagnostic advances have occurred for other syndromes, as well. For example, researchers have created a scoring system for Russell-Silver syndrome, a less common disorder characterized by slow growth before and after birth, in which mosaicism is also present.
Early diagnosis and intervention of Russell-Silver syndrome can ensure that patients grow to their maximum potential and address problems such as feeding issues.
Spotting a “compilation of features”
Although tools are available, Dr. Kalish said pediatricians don’t need to make a diagnosis, and instead can refer patients to a geneticist after recognizing clinical features that hint at a genetic etiology.
For pediatricians, the process of deciding whether to refer a patient to a geneticist may entail ruling out nongenetic causes, considering patient and family history, and ultimately deciding whether there is a “compilation of features” that falls outside the norm, she said. Unfortunately, she added, there’s “not a simple list I could just hand out saying, ‘If you see these things, call me.’ ”
Dr. Kalish said pediatricians should be aware that two children with similar features can have different syndromes. She presented case studies of two infants, who both had enlarged tongues and older mothers.
One child had hallmarks that pointed to Beckwith-Wiedemann syndrome: conception with in vitro fertilization, length in the 98th percentile, a long umbilical cord, nevus simplex birthmarks, and labial and leg asymmetry.
The other baby had features aligned with Down syndrome: a heart murmur, upward slanting eyes, and a single crease on the palm.
In some cases, isolated features such as the shape, slant, or spacing of eyes, or the presence of creases on the ears, may simply be familial or inherited traits, Dr. Kalish said.
She noted that “there’s been a lot of work in genetics in the past few years to show what syndromes look like” in diverse populations. The American Journal of Medical Genetics Part A has published a series of reports on the topic.
Dr. Kalish reported no relevant financial relationships.
A version of this article first appeared on Medscape.com.
Jennifer Kalish, MD, PhD, fields as many as 10 inquiries a month from pediatricians who spot an unusual feature during a clinical exam, and wonder if they should refer the family to a geneticist.
“There are hundreds of rare disorders, and for a pediatrician, they can be hard to recognize,” Dr. Kalish said. “That’s why we’re here as geneticists – to partner so that we can help.”
Pediatricians play a key role in spotting signs of rare genetic diseases, but may need guidance for recognizing the more subtle presentations of a disorder, according to Dr. Kalish, a geneticist and director of the Beckwith-Wiedemann Syndrome Clinic at Children’s Hospital of Philadelphia, who spoke at the American Academy of Pediatrics National Conference.
Spectrums of disease
Pediatricians may struggle with deciding whether to make a referral, in part because genetic syndromes “do not always look like the textbook,” she said.
With many conditions, “we’re starting to understand that there’s really a spectrum of how affected versus less affected one can be,” by genetic and epigenetic changes, which have led to recognition that many cases are more subtle and harder to diagnose, she said.
Beckwith-Wiedemann syndrome is a prime example. The overgrowth disorder affects an estimated 1 in 10,340 infants, and is associated with a heightened risk of Wilms tumors, a form of kidney cancer, and hepatoblastomas. Children diagnosed with these conditions typically undergo frequent screenings to detect tumors to jumpstart treatment.
Some researchers believe Beckwith-Wiedemann syndrome is underdiagnosed because it can present in many different ways because of variations in the distributions of affected cells in the body, known as mosaicism.
To address the complexity, Dr. Kalish guided development of a scoring system for determining whether molecular testing is warranted. Primary features such as an enlarged tongue and lateralized overgrowth carry more points, whereas suggestive features like ear creases or large birth weight carry fewer points.
Diagnostic advances have occurred for other syndromes, as well. For example, researchers have created a scoring system for Russell-Silver syndrome, a less common disorder characterized by slow growth before and after birth, in which mosaicism is also present.
Early diagnosis and intervention of Russell-Silver syndrome can ensure that patients grow to their maximum potential and address problems such as feeding issues.
Spotting a “compilation of features”
Although tools are available, Dr. Kalish said pediatricians don’t need to make a diagnosis, and instead can refer patients to a geneticist after recognizing clinical features that hint at a genetic etiology.
For pediatricians, the process of deciding whether to refer a patient to a geneticist may entail ruling out nongenetic causes, considering patient and family history, and ultimately deciding whether there is a “compilation of features” that falls outside the norm, she said. Unfortunately, she added, there’s “not a simple list I could just hand out saying, ‘If you see these things, call me.’ ”
Dr. Kalish said pediatricians should be aware that two children with similar features can have different syndromes. She presented case studies of two infants, who both had enlarged tongues and older mothers.
One child had hallmarks that pointed to Beckwith-Wiedemann syndrome: conception with in vitro fertilization, length in the 98th percentile, a long umbilical cord, nevus simplex birthmarks, and labial and leg asymmetry.
The other baby had features aligned with Down syndrome: a heart murmur, upward slanting eyes, and a single crease on the palm.
In some cases, isolated features such as the shape, slant, or spacing of eyes, or the presence of creases on the ears, may simply be familial or inherited traits, Dr. Kalish said.
She noted that “there’s been a lot of work in genetics in the past few years to show what syndromes look like” in diverse populations. The American Journal of Medical Genetics Part A has published a series of reports on the topic.
Dr. Kalish reported no relevant financial relationships.
A version of this article first appeared on Medscape.com.
Jennifer Kalish, MD, PhD, fields as many as 10 inquiries a month from pediatricians who spot an unusual feature during a clinical exam, and wonder if they should refer the family to a geneticist.
“There are hundreds of rare disorders, and for a pediatrician, they can be hard to recognize,” Dr. Kalish said. “That’s why we’re here as geneticists – to partner so that we can help.”
Pediatricians play a key role in spotting signs of rare genetic diseases, but may need guidance for recognizing the more subtle presentations of a disorder, according to Dr. Kalish, a geneticist and director of the Beckwith-Wiedemann Syndrome Clinic at Children’s Hospital of Philadelphia, who spoke at the American Academy of Pediatrics National Conference.
Spectrums of disease
Pediatricians may struggle with deciding whether to make a referral, in part because genetic syndromes “do not always look like the textbook,” she said.
With many conditions, “we’re starting to understand that there’s really a spectrum of how affected versus less affected one can be,” by genetic and epigenetic changes, which have led to recognition that many cases are more subtle and harder to diagnose, she said.
Beckwith-Wiedemann syndrome is a prime example. The overgrowth disorder affects an estimated 1 in 10,340 infants, and is associated with a heightened risk of Wilms tumors, a form of kidney cancer, and hepatoblastomas. Children diagnosed with these conditions typically undergo frequent screenings to detect tumors to jumpstart treatment.
Some researchers believe Beckwith-Wiedemann syndrome is underdiagnosed because it can present in many different ways because of variations in the distributions of affected cells in the body, known as mosaicism.
To address the complexity, Dr. Kalish guided development of a scoring system for determining whether molecular testing is warranted. Primary features such as an enlarged tongue and lateralized overgrowth carry more points, whereas suggestive features like ear creases or large birth weight carry fewer points.
Diagnostic advances have occurred for other syndromes, as well. For example, researchers have created a scoring system for Russell-Silver syndrome, a less common disorder characterized by slow growth before and after birth, in which mosaicism is also present.
Early diagnosis and intervention of Russell-Silver syndrome can ensure that patients grow to their maximum potential and address problems such as feeding issues.
Spotting a “compilation of features”
Although tools are available, Dr. Kalish said pediatricians don’t need to make a diagnosis, and instead can refer patients to a geneticist after recognizing clinical features that hint at a genetic etiology.
For pediatricians, the process of deciding whether to refer a patient to a geneticist may entail ruling out nongenetic causes, considering patient and family history, and ultimately deciding whether there is a “compilation of features” that falls outside the norm, she said. Unfortunately, she added, there’s “not a simple list I could just hand out saying, ‘If you see these things, call me.’ ”
Dr. Kalish said pediatricians should be aware that two children with similar features can have different syndromes. She presented case studies of two infants, who both had enlarged tongues and older mothers.
One child had hallmarks that pointed to Beckwith-Wiedemann syndrome: conception with in vitro fertilization, length in the 98th percentile, a long umbilical cord, nevus simplex birthmarks, and labial and leg asymmetry.
The other baby had features aligned with Down syndrome: a heart murmur, upward slanting eyes, and a single crease on the palm.
In some cases, isolated features such as the shape, slant, or spacing of eyes, or the presence of creases on the ears, may simply be familial or inherited traits, Dr. Kalish said.
She noted that “there’s been a lot of work in genetics in the past few years to show what syndromes look like” in diverse populations. The American Journal of Medical Genetics Part A has published a series of reports on the topic.
Dr. Kalish reported no relevant financial relationships.
A version of this article first appeared on Medscape.com.
FROM AAP 2022