Linda Little

SCOTTSDALE, ARIZ. — The treatment and diagnosis of urinary tract infections in young children are undergoing dramatic changes, Aaron L. Friedman, M.D., said at a pediatric update sponsored by Phoenix Children's Hospital.

Urinary tract infections affect 3%–4% of young girls and 1% of young boys—making the condition relatively common in children.

Dr. Friedman, chairman of the department of pediatrics at Brown University, Providence, R.I., said the standard treatment today is 7–14 days of antibiotics. However, there is now evidence that this could be shortened to 2–4 days for uncomplicated infections.

He pointed to a compilation of 10 studies of 652 children, aged 3 months to 18 years, comparing the conventional antibiotic course of 7–14 days with a 2- to 4-day treatment. The shorter course was found as effective as the longer course in eradicating lower urinary tract infections in children.

“There is increasing evidence that treatment as short as 2–4 days is sufficient for uncomplicated urinary tract infections in children who don't have bacteria floating in their blood and no kidney involvement,” Dr. Friedman said.

Another change is the amount of work a physician should put into finding the cause of the urinary tract infection. Because of the fear of kidney damage due to ureterovesical reflux in young children, the dogma has been to order imaging studies, such as ultrasound and voiding cystourethrogram (VCUG), after the diagnosis.

Both imaging studies are conventionally done weeks after the diagnosis of urinary tract infection in young children, said Dr. Friedman.

Ultrasound is now considered of little value, and the utility of VCUG—especially in children older than 1 year—is under considerable review, he said.

This applies only to children aged 1 year and older, he said. “Infants should be examined aggressively, but for everyone else, there should be a more nuanced approach.”

A U.S. study of more than 300 children with UTI aged 1–24 months showed that ultrasound was normal in 88% of children and that VCUG was positive for reflux in only 39%. Additionally, the nuclear medicine scan was positive for renal scarring in only 9.5% of patients.

“There is very little utility in ultrasound in urinary tract infections in children,” he said. “It doesn't help in early treatment, and it doesn't give you any more information than what you had before.”

There is increasing evidence about the use of VCUG with the first urinary tract infection, he said.

VCUG was thought to be useful in defining the population that needed prophylactic treatment. However, there is increasing skepticism such treatment is advantageous in these children.

“The problem is that we don't know that prophylactic treatment with low-dose antibiotics for an 18-month to 2-year period is useful,” he said. “While it does reduce the recurrences, there is no evidence that it improves the long-term outcome.”

“We are in a continuum here, where the conventional approach recommended a voiding study,” Dr. Friedman said.

SCOTTSDALE, ARIZ. — The treatment and diagnosis of urinary tract infections in young children are undergoing dramatic changes, Aaron L. Friedman, M.D., said at a pediatric update sponsored by Phoenix Children's Hospital.

Urinary tract infections affect 3%–4% of young girls and 1% of young boys—making the condition relatively common in children.

Dr. Friedman, chairman of the department of pediatrics at Brown University, Providence, R.I., said the standard treatment today is 7–14 days of antibiotics. However, there is now evidence that this could be shortened to 2–4 days for uncomplicated infections.

He pointed to a compilation of 10 studies of 652 children, aged 3 months to 18 years, comparing the conventional antibiotic course of 7–14 days with a 2- to 4-day treatment. The shorter course was found as effective as the longer course in eradicating lower urinary tract infections in children.

“There is increasing evidence that treatment as short as 2–4 days is sufficient for uncomplicated urinary tract infections in children who don't have bacteria floating in their blood and no kidney involvement,” Dr. Friedman said.

Another change is the amount of work a physician should put into finding the cause of the urinary tract infection. Because of the fear of kidney damage due to ureterovesical reflux in young children, the dogma has been to order imaging studies, such as ultrasound and voiding cystourethrogram (VCUG), after the diagnosis.

Both imaging studies are conventionally done weeks after the diagnosis of urinary tract infection in young children, said Dr. Friedman.

Ultrasound is now considered of little value, and the utility of VCUG—especially in children older than 1 year—is under considerable review, he said.

This applies only to children aged 1 year and older, he said. “Infants should be examined aggressively, but for everyone else, there should be a more nuanced approach.”

A U.S. study of more than 300 children with UTI aged 1–24 months showed that ultrasound was normal in 88% of children and that VCUG was positive for reflux in only 39%. Additionally, the nuclear medicine scan was positive for renal scarring in only 9.5% of patients.

“There is very little utility in ultrasound in urinary tract infections in children,” he said. “It doesn't help in early treatment, and it doesn't give you any more information than what you had before.”

There is increasing evidence about the use of VCUG with the first urinary tract infection, he said.

VCUG was thought to be useful in defining the population that needed prophylactic treatment. However, there is increasing skepticism such treatment is advantageous in these children.

“The problem is that we don't know that prophylactic treatment with low-dose antibiotics for an 18-month to 2-year period is useful,” he said. “While it does reduce the recurrences, there is no evidence that it improves the long-term outcome.”

“We are in a continuum here, where the conventional approach recommended a voiding study,” Dr. Friedman said.

SCOTTSDALE, ARIZ. — The treatment and diagnosis of urinary tract infections in young children are undergoing dramatic changes, Aaron L. Friedman, M.D., said at a pediatric update sponsored by Phoenix Children's Hospital.

Urinary tract infections affect 3%–4% of young girls and 1% of young boys—making the condition relatively common in children.

Dr. Friedman, chairman of the department of pediatrics at Brown University, Providence, R.I., said the standard treatment today is 7–14 days of antibiotics. However, there is now evidence that this could be shortened to 2–4 days for uncomplicated infections.

He pointed to a compilation of 10 studies of 652 children, aged 3 months to 18 years, comparing the conventional antibiotic course of 7–14 days with a 2- to 4-day treatment. The shorter course was found as effective as the longer course in eradicating lower urinary tract infections in children.

“There is increasing evidence that treatment as short as 2–4 days is sufficient for uncomplicated urinary tract infections in children who don't have bacteria floating in their blood and no kidney involvement,” Dr. Friedman said.

Another change is the amount of work a physician should put into finding the cause of the urinary tract infection. Because of the fear of kidney damage due to ureterovesical reflux in young children, the dogma has been to order imaging studies, such as ultrasound and voiding cystourethrogram (VCUG), after the diagnosis.

Both imaging studies are conventionally done weeks after the diagnosis of urinary tract infection in young children, said Dr. Friedman.

Ultrasound is now considered of little value, and the utility of VCUG—especially in children older than 1 year—is under considerable review, he said.

This applies only to children aged 1 year and older, he said. “Infants should be examined aggressively, but for everyone else, there should be a more nuanced approach.”

A U.S. study of more than 300 children with UTI aged 1–24 months showed that ultrasound was normal in 88% of children and that VCUG was positive for reflux in only 39%. Additionally, the nuclear medicine scan was positive for renal scarring in only 9.5% of patients.

“There is very little utility in ultrasound in urinary tract infections in children,” he said. “It doesn't help in early treatment, and it doesn't give you any more information than what you had before.”

There is increasing evidence about the use of VCUG with the first urinary tract infection, he said.

VCUG was thought to be useful in defining the population that needed prophylactic treatment. However, there is increasing skepticism such treatment is advantageous in these children.

“The problem is that we don't know that prophylactic treatment with low-dose antibiotics for an 18-month to 2-year period is useful,” he said. “While it does reduce the recurrences, there is no evidence that it improves the long-term outcome.”

“We are in a continuum here, where the conventional approach recommended a voiding study,” Dr. Friedman said.

GRAPEVINE, TEX. — The behavioral and cognitive defects in children with fetal alcohol effects may be partly due to genetic psychiatric disorders, researchers reported in a poster presentation at a meeting sponsored by the American College of Medical Genetics.

“Physicians need to ask about psychiatric and behavioral illnesses in families when diagnosing children with fetal alcohol effects [FAE],” said Helga V. Toriello, Ph.D., director of genetics services, Spectrum Health, Grand Rapids, Mich. “Acquiring a family history is important, because they suddenly may be dealing with genetic factors rather than alcohol.”

While the diagnostic criteria for fetal alcohol syndrome are firm, the criteria for fetal alcohol effects are less clear and may overlap with other psychiatric and behavioral disorders, she said.

Researchers at Spectrum and DeVos Children's Hospital, also in Grand Rapids, found that 95% of children thought to have fetal alcohol effects also had psychiatric or behavioral disorders and that 89% had a first-degree relative with a psychiatric or behavioral disorder.

The study included 100 children aged 3–19 years who had been seen to determine whether they had fetal alcohol syndrome. None of the children fit the criteria for fetal alcohol syndrome and thus could be considered to have FAE.

But after conducting family histories, the researchers found a high rate of psychiatric and behavioral illnesses such as bipolar depression and attention-deficit disorder, not only in the children but in first-degree relatives.

“This raises the question of how much of the behavioral problems are due to psychiatric illness or alcohol exposure,” she asked. “A genetic condition might be contributing to the child's behavior.”

Psychiatric and behavioral problems such as depression, anxiety, bipolar disorder, and attention-deficit hyperactivity disorder are known to be highly heritable.

Additionally, there appears to be a comorbidity of alcoholism and mental illness. For example, at least 20% of those with mood or anxiety disorders also have substance abuse disorder. And at least 20% of those with substance abuse problems also have mood or anxiety disorders.

The researchers found that children with bipolar depression had split verbal and performance IQ, executive dysfunction, and attention problems—all common features also reported in children exposed to alcohol.

Also, some individuals with psychiatric and behavioral illnesses have similar characteristics as those exposed to alcohol prenatally. For example, in bipolar depression, there is sexually inappropriate behavior, anger, hyperactivity, and learning disabilities, features also found in alcohol exposure.

Dr. Toriello said the researchers are not saying that alcohol does not have an effect, but it may not be the only reason for the child's behavior. “When we did a family history there was a high frequency of one or both parents having a mental illness or behavioral disorder. It might be that a genetic condition is contributing to the child's behavior rather than strictly alcohol exposure.”

GRAPEVINE, TEX. — The behavioral and cognitive defects in children with fetal alcohol effects may be partly due to genetic psychiatric disorders, researchers reported in a poster presentation at a meeting sponsored by the American College of Medical Genetics.

“Physicians need to ask about psychiatric and behavioral illnesses in families when diagnosing children with fetal alcohol effects [FAE],” said Helga V. Toriello, Ph.D., director of genetics services, Spectrum Health, Grand Rapids, Mich. “Acquiring a family history is important, because they suddenly may be dealing with genetic factors rather than alcohol.”

While the diagnostic criteria for fetal alcohol syndrome are firm, the criteria for fetal alcohol effects are less clear and may overlap with other psychiatric and behavioral disorders, she said.

Researchers at Spectrum and DeVos Children's Hospital, also in Grand Rapids, found that 95% of children thought to have fetal alcohol effects also had psychiatric or behavioral disorders and that 89% had a first-degree relative with a psychiatric or behavioral disorder.

The study included 100 children aged 3–19 years who had been seen to determine whether they had fetal alcohol syndrome. None of the children fit the criteria for fetal alcohol syndrome and thus could be considered to have FAE.

But after conducting family histories, the researchers found a high rate of psychiatric and behavioral illnesses such as bipolar depression and attention-deficit disorder, not only in the children but in first-degree relatives.

“This raises the question of how much of the behavioral problems are due to psychiatric illness or alcohol exposure,” she asked. “A genetic condition might be contributing to the child's behavior.”

Psychiatric and behavioral problems such as depression, anxiety, bipolar disorder, and attention-deficit hyperactivity disorder are known to be highly heritable.

Additionally, there appears to be a comorbidity of alcoholism and mental illness. For example, at least 20% of those with mood or anxiety disorders also have substance abuse disorder. And at least 20% of those with substance abuse problems also have mood or anxiety disorders.

The researchers found that children with bipolar depression had split verbal and performance IQ, executive dysfunction, and attention problems—all common features also reported in children exposed to alcohol.

Also, some individuals with psychiatric and behavioral illnesses have similar characteristics as those exposed to alcohol prenatally. For example, in bipolar depression, there is sexually inappropriate behavior, anger, hyperactivity, and learning disabilities, features also found in alcohol exposure.

Dr. Toriello said the researchers are not saying that alcohol does not have an effect, but it may not be the only reason for the child's behavior. “When we did a family history there was a high frequency of one or both parents having a mental illness or behavioral disorder. It might be that a genetic condition is contributing to the child's behavior rather than strictly alcohol exposure.”

GRAPEVINE, TEX. — The behavioral and cognitive defects in children with fetal alcohol effects may be partly due to genetic psychiatric disorders, researchers reported in a poster presentation at a meeting sponsored by the American College of Medical Genetics.

“Physicians need to ask about psychiatric and behavioral illnesses in families when diagnosing children with fetal alcohol effects [FAE],” said Helga V. Toriello, Ph.D., director of genetics services, Spectrum Health, Grand Rapids, Mich. “Acquiring a family history is important, because they suddenly may be dealing with genetic factors rather than alcohol.”

While the diagnostic criteria for fetal alcohol syndrome are firm, the criteria for fetal alcohol effects are less clear and may overlap with other psychiatric and behavioral disorders, she said.

Researchers at Spectrum and DeVos Children's Hospital, also in Grand Rapids, found that 95% of children thought to have fetal alcohol effects also had psychiatric or behavioral disorders and that 89% had a first-degree relative with a psychiatric or behavioral disorder.

The study included 100 children aged 3–19 years who had been seen to determine whether they had fetal alcohol syndrome. None of the children fit the criteria for fetal alcohol syndrome and thus could be considered to have FAE.

But after conducting family histories, the researchers found a high rate of psychiatric and behavioral illnesses such as bipolar depression and attention-deficit disorder, not only in the children but in first-degree relatives.

“This raises the question of how much of the behavioral problems are due to psychiatric illness or alcohol exposure,” she asked. “A genetic condition might be contributing to the child's behavior.”

Psychiatric and behavioral problems such as depression, anxiety, bipolar disorder, and attention-deficit hyperactivity disorder are known to be highly heritable.

Additionally, there appears to be a comorbidity of alcoholism and mental illness. For example, at least 20% of those with mood or anxiety disorders also have substance abuse disorder. And at least 20% of those with substance abuse problems also have mood or anxiety disorders.

The researchers found that children with bipolar depression had split verbal and performance IQ, executive dysfunction, and attention problems—all common features also reported in children exposed to alcohol.

Also, some individuals with psychiatric and behavioral illnesses have similar characteristics as those exposed to alcohol prenatally. For example, in bipolar depression, there is sexually inappropriate behavior, anger, hyperactivity, and learning disabilities, features also found in alcohol exposure.

Dr. Toriello said the researchers are not saying that alcohol does not have an effect, but it may not be the only reason for the child's behavior. “When we did a family history there was a high frequency of one or both parents having a mental illness or behavioral disorder. It might be that a genetic condition is contributing to the child's behavior rather than strictly alcohol exposure.”

SCOTTSDALE, ARIZ. — Alopecia areata can be emotionally devastating for young girls and boys, so treatment should include psychological support, Dr. Ronald C. Hansen said at a pediatric update sponsored by Phoenix Children's Hospital.

This is especially true in little girls, said Dr. Hansen, professor of pediatrics and dermatology at the hospital. “This is just as devastating to a little girl as a 60-year-old woman undergoing chemotherapy.” They may need a referral to a psychologist.

Some boys don't mind the baldness because many male athletes shave their heads. But there are very few role models for little girls, Dr. Hansen said.

To make matters worse, wigs aren't manufactured for 5-year-old children, and most insurance won't pay for wigs, he said.

Alopecia areata affects 1% of Americans, half of whom are children. It is characterized by a sudden appearance of a round or oval patch of hair loss. The resulting bald spots are smooth, pink bald patches with sharply marginated hair loss.

Usually, there are one or two bald patches on the scalp. However, in the alopecia totalis variant, the head is completely bald. In alopecia universalis, there is no body hair including eyebrows, eyelashes, or pubic hair.

Another form of alopecia is the ophiasis pattern in which there is a long band passing above the ear, occurring in 5% of childhood cases. In 25% of the cases, there is fingernail involvement with pits, stippling, and ridging of the nails, with nail thickening.

“This form heralds a bad prognosis,” Dr. Hansen said. “If the child has fingernail involvement, you can be quite confident of the diagnosis.”

Before a final diagnosis of alopecia areata, physicians must rule out trichotillomania, a compulsion to pull one's hair out, and tinea capitis, a scalp fungal infection.

In trichotillomania, children have more satellite patches with incomplete hair loss and broken terminal hairs of different lengths, he said. “This diagnosis is made more with your fingers than your eyes,” with a lot of “broken-off hair, and you can feel the stubble.”

Most parents can't believe that their child has such a habit, he said. But there is a simple, convincing test for the condition.

Just shave off a little area and then see the child each week for a few weeks, and hair growth in those areas will return because it is too short to pull out. “It's a good test,” he said.

Tinea capitis is characterized by inflammation and scaling. A simple culture with any inflammation will prove the diagnosis, he said.

Once alopecia areata is diagnosed, the treatment is based on the severity, Dr. Hansen said.

If there are only a few patches—one or two—then there is a 95% chance that the hair will grow back, even without treatment.

But if the diagnosis is alopecia totalis or universalis, the chances of permanent regrowth are almost nonexistent without treatment “Even with treatment, the chances of permanent retention once there is regrowth is troublesome,” he said.

Those with a poor prognosis are patients diagnosed at a young age, those with extensive baldness, the ophiasis pattern, and nail dystrophy.

With limited disease, there should be just watchful waiting, Dr. Hansen advised, but in more severe disease, treatment is recommended.

Topical steroids result in a poor response because the drugs have limited penetration on the scalp, he said.

Intralesional steroids are advised in patients old enough to tolerate it, he said. “It hurts and scares kids to have needle sticks. Children must agree to this.”

Intralesional steroids, triamcinolone acetonide 3–10 mg/cc, injected into the entire alopecia patch, will regrow hair in a month or two.

In children, the injections need to be limited to 3 mL or less per session and repeated every 4–8 weeks. Topical anesthetics can alleviate injection pain, Dr. Hansen said.

Usually this can be done in girls at about 7–9 years old and in boys about 10–12 years old, when they start becoming concerned about alopecia.

Topical sensitizers, such as squaric acid dibutylester (SADBE) or diphenylcyclopropenone (DPCP), can be rubbed on the scalp, creating an allergic response and resulting in hair growth, Dr. Hansen said. Both are about 60% effective.

“This is the best treatment for little kids who can't tolerate needles,” he said. The sensitizers also are effective in more extensive disease.

Severe itching caused by the sensitizer can be treated with topical steroids, he said, but there needs to be a little rash to make the treatment work.

Dr. Hansen warned against using minoxidil 2% in children because it can cause extensive hair growth over the body.

Oral steroids work better than anything to regrow hair, but the hair falls out again as soon as the treatment is stopped, he said. “It's a dead end.”

In alopecia areata, physicians must not only treat the condition, but also manage it, Dr. Hansen said. “Management means making sure there is psychological support for these children.”

SCOTTSDALE, ARIZ. — Alopecia areata can be emotionally devastating for young girls and boys, so treatment should include psychological support, Dr. Ronald C. Hansen said at a pediatric update sponsored by Phoenix Children's Hospital.

This is especially true in little girls, said Dr. Hansen, professor of pediatrics and dermatology at the hospital. “This is just as devastating to a little girl as a 60-year-old woman undergoing chemotherapy.” They may need a referral to a psychologist.

Some boys don't mind the baldness because many male athletes shave their heads. But there are very few role models for little girls, Dr. Hansen said.

To make matters worse, wigs aren't manufactured for 5-year-old children, and most insurance won't pay for wigs, he said.

Alopecia areata affects 1% of Americans, half of whom are children. It is characterized by a sudden appearance of a round or oval patch of hair loss. The resulting bald spots are smooth, pink bald patches with sharply marginated hair loss.

Usually, there are one or two bald patches on the scalp. However, in the alopecia totalis variant, the head is completely bald. In alopecia universalis, there is no body hair including eyebrows, eyelashes, or pubic hair.

Another form of alopecia is the ophiasis pattern in which there is a long band passing above the ear, occurring in 5% of childhood cases. In 25% of the cases, there is fingernail involvement with pits, stippling, and ridging of the nails, with nail thickening.

“This form heralds a bad prognosis,” Dr. Hansen said. “If the child has fingernail involvement, you can be quite confident of the diagnosis.”

Before a final diagnosis of alopecia areata, physicians must rule out trichotillomania, a compulsion to pull one's hair out, and tinea capitis, a scalp fungal infection.

In trichotillomania, children have more satellite patches with incomplete hair loss and broken terminal hairs of different lengths, he said. “This diagnosis is made more with your fingers than your eyes,” with a lot of “broken-off hair, and you can feel the stubble.”

Most parents can't believe that their child has such a habit, he said. But there is a simple, convincing test for the condition.

Just shave off a little area and then see the child each week for a few weeks, and hair growth in those areas will return because it is too short to pull out. “It's a good test,” he said.

Tinea capitis is characterized by inflammation and scaling. A simple culture with any inflammation will prove the diagnosis, he said.

Once alopecia areata is diagnosed, the treatment is based on the severity, Dr. Hansen said.

If there are only a few patches—one or two—then there is a 95% chance that the hair will grow back, even without treatment.

But if the diagnosis is alopecia totalis or universalis, the chances of permanent regrowth are almost nonexistent without treatment “Even with treatment, the chances of permanent retention once there is regrowth is troublesome,” he said.

Those with a poor prognosis are patients diagnosed at a young age, those with extensive baldness, the ophiasis pattern, and nail dystrophy.

With limited disease, there should be just watchful waiting, Dr. Hansen advised, but in more severe disease, treatment is recommended.

Topical steroids result in a poor response because the drugs have limited penetration on the scalp, he said.

Intralesional steroids are advised in patients old enough to tolerate it, he said. “It hurts and scares kids to have needle sticks. Children must agree to this.”

Intralesional steroids, triamcinolone acetonide 3–10 mg/cc, injected into the entire alopecia patch, will regrow hair in a month or two.

In children, the injections need to be limited to 3 mL or less per session and repeated every 4–8 weeks. Topical anesthetics can alleviate injection pain, Dr. Hansen said.

Usually this can be done in girls at about 7–9 years old and in boys about 10–12 years old, when they start becoming concerned about alopecia.

Topical sensitizers, such as squaric acid dibutylester (SADBE) or diphenylcyclopropenone (DPCP), can be rubbed on the scalp, creating an allergic response and resulting in hair growth, Dr. Hansen said. Both are about 60% effective.

“This is the best treatment for little kids who can't tolerate needles,” he said. The sensitizers also are effective in more extensive disease.

Severe itching caused by the sensitizer can be treated with topical steroids, he said, but there needs to be a little rash to make the treatment work.

Dr. Hansen warned against using minoxidil 2% in children because it can cause extensive hair growth over the body.

Oral steroids work better than anything to regrow hair, but the hair falls out again as soon as the treatment is stopped, he said. “It's a dead end.”

In alopecia areata, physicians must not only treat the condition, but also manage it, Dr. Hansen said. “Management means making sure there is psychological support for these children.”

SCOTTSDALE, ARIZ. — Alopecia areata can be emotionally devastating for young girls and boys, so treatment should include psychological support, Dr. Ronald C. Hansen said at a pediatric update sponsored by Phoenix Children's Hospital.

This is especially true in little girls, said Dr. Hansen, professor of pediatrics and dermatology at the hospital. “This is just as devastating to a little girl as a 60-year-old woman undergoing chemotherapy.” They may need a referral to a psychologist.

Some boys don't mind the baldness because many male athletes shave their heads. But there are very few role models for little girls, Dr. Hansen said.

To make matters worse, wigs aren't manufactured for 5-year-old children, and most insurance won't pay for wigs, he said.

Alopecia areata affects 1% of Americans, half of whom are children. It is characterized by a sudden appearance of a round or oval patch of hair loss. The resulting bald spots are smooth, pink bald patches with sharply marginated hair loss.

Usually, there are one or two bald patches on the scalp. However, in the alopecia totalis variant, the head is completely bald. In alopecia universalis, there is no body hair including eyebrows, eyelashes, or pubic hair.

Another form of alopecia is the ophiasis pattern in which there is a long band passing above the ear, occurring in 5% of childhood cases. In 25% of the cases, there is fingernail involvement with pits, stippling, and ridging of the nails, with nail thickening.

“This form heralds a bad prognosis,” Dr. Hansen said. “If the child has fingernail involvement, you can be quite confident of the diagnosis.”

Before a final diagnosis of alopecia areata, physicians must rule out trichotillomania, a compulsion to pull one's hair out, and tinea capitis, a scalp fungal infection.

In trichotillomania, children have more satellite patches with incomplete hair loss and broken terminal hairs of different lengths, he said. “This diagnosis is made more with your fingers than your eyes,” with a lot of “broken-off hair, and you can feel the stubble.”

Most parents can't believe that their child has such a habit, he said. But there is a simple, convincing test for the condition.

Just shave off a little area and then see the child each week for a few weeks, and hair growth in those areas will return because it is too short to pull out. “It's a good test,” he said.

Tinea capitis is characterized by inflammation and scaling. A simple culture with any inflammation will prove the diagnosis, he said.

Once alopecia areata is diagnosed, the treatment is based on the severity, Dr. Hansen said.

If there are only a few patches—one or two—then there is a 95% chance that the hair will grow back, even without treatment.

But if the diagnosis is alopecia totalis or universalis, the chances of permanent regrowth are almost nonexistent without treatment “Even with treatment, the chances of permanent retention once there is regrowth is troublesome,” he said.

Those with a poor prognosis are patients diagnosed at a young age, those with extensive baldness, the ophiasis pattern, and nail dystrophy.

With limited disease, there should be just watchful waiting, Dr. Hansen advised, but in more severe disease, treatment is recommended.

Topical steroids result in a poor response because the drugs have limited penetration on the scalp, he said.

Intralesional steroids are advised in patients old enough to tolerate it, he said. “It hurts and scares kids to have needle sticks. Children must agree to this.”

Intralesional steroids, triamcinolone acetonide 3–10 mg/cc, injected into the entire alopecia patch, will regrow hair in a month or two.

In children, the injections need to be limited to 3 mL or less per session and repeated every 4–8 weeks. Topical anesthetics can alleviate injection pain, Dr. Hansen said.

Usually this can be done in girls at about 7–9 years old and in boys about 10–12 years old, when they start becoming concerned about alopecia.

Topical sensitizers, such as squaric acid dibutylester (SADBE) or diphenylcyclopropenone (DPCP), can be rubbed on the scalp, creating an allergic response and resulting in hair growth, Dr. Hansen said. Both are about 60% effective.

“This is the best treatment for little kids who can't tolerate needles,” he said. The sensitizers also are effective in more extensive disease.

Severe itching caused by the sensitizer can be treated with topical steroids, he said, but there needs to be a little rash to make the treatment work.

Dr. Hansen warned against using minoxidil 2% in children because it can cause extensive hair growth over the body.

Oral steroids work better than anything to regrow hair, but the hair falls out again as soon as the treatment is stopped, he said. “It's a dead end.”

In alopecia areata, physicians must not only treat the condition, but also manage it, Dr. Hansen said. “Management means making sure there is psychological support for these children.”

GRAPEVINE, TEX. – The behavioral and cognitive defects in children with fetal alcohol effects may be partly attributable to genetic psychiatric disorders, researchers reported in a poster presentation at a meeting sponsored by the American College of Medical Genetics.

“Physicians need to ask about psychiatric and behavioral illnesses in families when diagnosing children with fetal alcohol effects [FAE],” said Helga V. Toriello, Ph.D., director of genetics services, Spectrum Health, Grand Rapids, Mich. “Acquiring a family history is important, because they suddenly may be dealing with genetic factors rather than alcohol.”

While the diagnostic criteria for fetal alcohol syndrome are firm, the criteria for fetal alcohol effects are less clear and may overlap with other psychiatric and behavioral disorders, she said.

Researchers at Spectrum and DeVos Children's Hospital, also in Grand Rapids, found that 95% of children thought to have fetal alcohol effects also had psychiatric or behavioral disorders and that 89% had a first-degree relative with a psychiatric or behavioral disorder.

The study included 100 children aged 3–19 years who had been seen to determine whether they had fetal alcohol syndrome. None of the children fit the criteria for fetal alcohol syndrome and thus could be considered to have FAE.

But after conducting family histories, the researchers found a high rate of psychiatric and behavioral illnesses such as bipolar depression and attention-deficit disorder, not only in the children but in first-degree relatives.

“This raises the question of how much of the behavioral problems are due to psychiatric illness or alcohol exposure,” she asked. “A genetic condition might be contributing to the child's behavior.”

Psychiatric and behavioral problems such as depression, anxiety, bipolar disorder, and attention-deficit hyperactivity disorder are known to be highly heritable.

Additionally, there appears to be a comorbidity of alcoholism and mental illness. For example, at least 20% of those with mood or anxiety disorders also have substance abuse disorder. And at least 20% of those with substance abuse problems also have mood or anxiety disorders.

The researchers found that children with bipolar depression had split verbal and performance IQ, executive dysfunction, and attention problems–all common features also reported in children exposed to alcohol.

Also, some individuals with psychiatric and behavioral illnesses have similar characteristics as those exposed to alcohol prenatally. For example, in bipolar depression, there is sexually inappropriate behavior, anger, hyperactivity, and learning disabilities, features also found in alcohol exposure.

Dr. Toriello said the researchers are not saying that alcohol does not have an effect, but it may not be the only reason for the child's behavior. “When we did a family history, there was a high frequency of one or both parents having a mental illness or behavioral disorder. It might be that a genetic condition is contributing to the child's behavior rather than strictly alcohol exposure.”

GRAPEVINE, TEX. – The behavioral and cognitive defects in children with fetal alcohol effects may be partly attributable to genetic psychiatric disorders, researchers reported in a poster presentation at a meeting sponsored by the American College of Medical Genetics.

“Physicians need to ask about psychiatric and behavioral illnesses in families when diagnosing children with fetal alcohol effects [FAE],” said Helga V. Toriello, Ph.D., director of genetics services, Spectrum Health, Grand Rapids, Mich. “Acquiring a family history is important, because they suddenly may be dealing with genetic factors rather than alcohol.”

While the diagnostic criteria for fetal alcohol syndrome are firm, the criteria for fetal alcohol effects are less clear and may overlap with other psychiatric and behavioral disorders, she said.

Researchers at Spectrum and DeVos Children's Hospital, also in Grand Rapids, found that 95% of children thought to have fetal alcohol effects also had psychiatric or behavioral disorders and that 89% had a first-degree relative with a psychiatric or behavioral disorder.

The study included 100 children aged 3–19 years who had been seen to determine whether they had fetal alcohol syndrome. None of the children fit the criteria for fetal alcohol syndrome and thus could be considered to have FAE.

But after conducting family histories, the researchers found a high rate of psychiatric and behavioral illnesses such as bipolar depression and attention-deficit disorder, not only in the children but in first-degree relatives.

“This raises the question of how much of the behavioral problems are due to psychiatric illness or alcohol exposure,” she asked. “A genetic condition might be contributing to the child's behavior.”

Psychiatric and behavioral problems such as depression, anxiety, bipolar disorder, and attention-deficit hyperactivity disorder are known to be highly heritable.

Additionally, there appears to be a comorbidity of alcoholism and mental illness. For example, at least 20% of those with mood or anxiety disorders also have substance abuse disorder. And at least 20% of those with substance abuse problems also have mood or anxiety disorders.

The researchers found that children with bipolar depression had split verbal and performance IQ, executive dysfunction, and attention problems–all common features also reported in children exposed to alcohol.

Also, some individuals with psychiatric and behavioral illnesses have similar characteristics as those exposed to alcohol prenatally. For example, in bipolar depression, there is sexually inappropriate behavior, anger, hyperactivity, and learning disabilities, features also found in alcohol exposure.

Dr. Toriello said the researchers are not saying that alcohol does not have an effect, but it may not be the only reason for the child's behavior. “When we did a family history, there was a high frequency of one or both parents having a mental illness or behavioral disorder. It might be that a genetic condition is contributing to the child's behavior rather than strictly alcohol exposure.”

GRAPEVINE, TEX. – The behavioral and cognitive defects in children with fetal alcohol effects may be partly attributable to genetic psychiatric disorders, researchers reported in a poster presentation at a meeting sponsored by the American College of Medical Genetics.

“Physicians need to ask about psychiatric and behavioral illnesses in families when diagnosing children with fetal alcohol effects [FAE],” said Helga V. Toriello, Ph.D., director of genetics services, Spectrum Health, Grand Rapids, Mich. “Acquiring a family history is important, because they suddenly may be dealing with genetic factors rather than alcohol.”

While the diagnostic criteria for fetal alcohol syndrome are firm, the criteria for fetal alcohol effects are less clear and may overlap with other psychiatric and behavioral disorders, she said.

Researchers at Spectrum and DeVos Children's Hospital, also in Grand Rapids, found that 95% of children thought to have fetal alcohol effects also had psychiatric or behavioral disorders and that 89% had a first-degree relative with a psychiatric or behavioral disorder.

The study included 100 children aged 3–19 years who had been seen to determine whether they had fetal alcohol syndrome. None of the children fit the criteria for fetal alcohol syndrome and thus could be considered to have FAE.

But after conducting family histories, the researchers found a high rate of psychiatric and behavioral illnesses such as bipolar depression and attention-deficit disorder, not only in the children but in first-degree relatives.

“This raises the question of how much of the behavioral problems are due to psychiatric illness or alcohol exposure,” she asked. “A genetic condition might be contributing to the child's behavior.”

Psychiatric and behavioral problems such as depression, anxiety, bipolar disorder, and attention-deficit hyperactivity disorder are known to be highly heritable.

Additionally, there appears to be a comorbidity of alcoholism and mental illness. For example, at least 20% of those with mood or anxiety disorders also have substance abuse disorder. And at least 20% of those with substance abuse problems also have mood or anxiety disorders.

The researchers found that children with bipolar depression had split verbal and performance IQ, executive dysfunction, and attention problems–all common features also reported in children exposed to alcohol.

Also, some individuals with psychiatric and behavioral illnesses have similar characteristics as those exposed to alcohol prenatally. For example, in bipolar depression, there is sexually inappropriate behavior, anger, hyperactivity, and learning disabilities, features also found in alcohol exposure.

Dr. Toriello said the researchers are not saying that alcohol does not have an effect, but it may not be the only reason for the child's behavior. “When we did a family history, there was a high frequency of one or both parents having a mental illness or behavioral disorder. It might be that a genetic condition is contributing to the child's behavior rather than strictly alcohol exposure.”

SCOTTSDALE, ARIZ. – Physicians need to talk seriously with adolescents about raves, the drug scene, family, and school to detect dangerous problems, an Arizona pediatrician advised physicians attending a pediatric update sponsored by Phoenix Children's Hospital.

Talking with adolescents without their parents present is essential, said Randal C. Christensen, M.D., medical director of the hospital's Crews 'N Healthmobile, a mobile medical unit serving homeless adolescents and children. “This should start at about 11 or 12 years of age.

“It's surprising how open [preadolescents and] adolescents can be about their lives,” he said.

“Some things should be kept confidential, but nothing that could be harmful to the patient.”

The latest fad in the teen world is raves, dusk-to-dawn dance parties with fast music, techno sound, and light shows. “They are often promoted as alcohol-free, high-security events,” he said.

What more could parents ask for?

“It's a cover-up,” he said. “There is a dark side to these events.” What isn't advertised is that club drugs, such as ecstasy, methamphetamine, rohypnol, and γ-hydroxybutyrate (GHB) are often free-flowing at these functions. The Internet has provided easy access to these events by advertising, state by state, the locations and times, Dr. Christensen said. “All you have to do is type in 'rave' and your city.”

“We're talking about promoters making millions of dollars just on the cover charge and the legal stuff that is sold there,” he said.

But many times, the latest drugs are easily available at these events.

One of the most popular is ecstasy, or methylenedioxymethamphetamine (MDMA). “It enhances the sight, sounds, and touch,” he said. It also raises the body temperature and causes teeth clenching–so bottled water, flavored pacifiers, and candy necklaces are sold at these events to help ease these symptoms.

Although the use of ecstasy peaked in 2001, it continues to be high, with close to 2 million youths admitting to using the drug. And while ecstasy use has decreased among eighth graders, the use of inhalants is rising at an “alarming rate” among this age group, he said.

Now 12th graders are increasing their use of prescription drugs, with 1 in 10 admitting to use of oxycodone on at least one occasion, Dr. Christensen said.

Physicians need to be savvy about what drugs are in use, he said. This easily can be done by looking at Web sites that explain not only the effects but also the popular usage of these illegal drugs.

“Physicians need to ask questions to open the lines of communication. This can be done during the regular child health check-up,” out of the parents' presence, Dr. Christensen said, adding that “this should be nonchallenging and done in an open style.”

Ask about how well a teenager is doing at home and school, what outside activities the patient participates in, if he or she has used drugs, about diet, sexual activity, depression, and whether the patient has had thoughts of suicide.

If the adolescent has good friends, a good relationship with family, and is doing well in school but admits to drinking a beer or trying marijuana once, then perhaps this information should be kept confidential, he said. However, if the adolescent has been skipping school, making bad grades, has a deteriorating relationship with family, is using drugs regularly, and has “gone wild,” then the confidentiality should be broken, Dr. Christensen said.

“This should be discussed with parents,” he said.

Not-So-Innocent Paraphernalia at Raves

Water, menthol, and highlighter markers are just a few of the items commonly found at raves for less-than-innocent reasons.

Pictured are a number of the items found at raves.

Ecstasy use often results in dehydration and hyperthermia, so water is frequently sold at raves at great profit, said Dr. Christensen. Bottled water also may be the vehicle in which other drugs, such as GHB, are smuggled into the clubs; flavored water is often used to mask the taste.

Baby pacifiers and hard candy often are seen at raves because one side effect of MDMA is teeth clenching.

MDMA enhances sensations, and items that produce bright lights (such as lightsticks) or strong aromas (such as menthol) are brought to raves. Masks often are used to smear menthol inside and heighten the sensations. It is thought the menthol mask produces both stimulant and depressant effects.

Energy drinks frequently are found and “speak to the rush” that many are seeking with caffeine and other legal and illegal substances, Dr. Christensen said.

Pseudoephedrine, the ingredient used to make methamphetamine, now also is seen in “mega-dosing” cases, he said.

Other “outdated” drugs, such as LSD, still make it to the drug scene. They may be sold as sugar cubes or stickers placed on tongues, just as they were several decades ago, Dr. Christensen said. Highlighter markers and lipstick holders often are used to smuggle in these tiny items.

Courtesy Dr. Randal C. Christensen

SCOTTSDALE, ARIZ. – Physicians need to talk seriously with adolescents about raves, the drug scene, family, and school to detect dangerous problems, an Arizona pediatrician advised physicians attending a pediatric update sponsored by Phoenix Children's Hospital.

Talking with adolescents without their parents present is essential, said Randal C. Christensen, M.D., medical director of the hospital's Crews 'N Healthmobile, a mobile medical unit serving homeless adolescents and children. “This should start at about 11 or 12 years of age.

“It's surprising how open [preadolescents and] adolescents can be about their lives,” he said.

“Some things should be kept confidential, but nothing that could be harmful to the patient.”

The latest fad in the teen world is raves, dusk-to-dawn dance parties with fast music, techno sound, and light shows. “They are often promoted as alcohol-free, high-security events,” he said.

What more could parents ask for?

“It's a cover-up,” he said. “There is a dark side to these events.” What isn't advertised is that club drugs, such as ecstasy, methamphetamine, rohypnol, and γ-hydroxybutyrate (GHB) are often free-flowing at these functions. The Internet has provided easy access to these events by advertising, state by state, the locations and times, Dr. Christensen said. “All you have to do is type in 'rave' and your city.”

“We're talking about promoters making millions of dollars just on the cover charge and the legal stuff that is sold there,” he said.

But many times, the latest drugs are easily available at these events.

One of the most popular is ecstasy, or methylenedioxymethamphetamine (MDMA). “It enhances the sight, sounds, and touch,” he said. It also raises the body temperature and causes teeth clenching–so bottled water, flavored pacifiers, and candy necklaces are sold at these events to help ease these symptoms.

Although the use of ecstasy peaked in 2001, it continues to be high, with close to 2 million youths admitting to using the drug. And while ecstasy use has decreased among eighth graders, the use of inhalants is rising at an “alarming rate” among this age group, he said.

Now 12th graders are increasing their use of prescription drugs, with 1 in 10 admitting to use of oxycodone on at least one occasion, Dr. Christensen said.

Physicians need to be savvy about what drugs are in use, he said. This easily can be done by looking at Web sites that explain not only the effects but also the popular usage of these illegal drugs.

“Physicians need to ask questions to open the lines of communication. This can be done during the regular child health check-up,” out of the parents' presence, Dr. Christensen said, adding that “this should be nonchallenging and done in an open style.”

Ask about how well a teenager is doing at home and school, what outside activities the patient participates in, if he or she has used drugs, about diet, sexual activity, depression, and whether the patient has had thoughts of suicide.

If the adolescent has good friends, a good relationship with family, and is doing well in school but admits to drinking a beer or trying marijuana once, then perhaps this information should be kept confidential, he said. However, if the adolescent has been skipping school, making bad grades, has a deteriorating relationship with family, is using drugs regularly, and has “gone wild,” then the confidentiality should be broken, Dr. Christensen said.

“This should be discussed with parents,” he said.

Not-So-Innocent Paraphernalia at Raves

Water, menthol, and highlighter markers are just a few of the items commonly found at raves for less-than-innocent reasons.

Pictured are a number of the items found at raves.

Ecstasy use often results in dehydration and hyperthermia, so water is frequently sold at raves at great profit, said Dr. Christensen. Bottled water also may be the vehicle in which other drugs, such as GHB, are smuggled into the clubs; flavored water is often used to mask the taste.

Baby pacifiers and hard candy often are seen at raves because one side effect of MDMA is teeth clenching.

MDMA enhances sensations, and items that produce bright lights (such as lightsticks) or strong aromas (such as menthol) are brought to raves. Masks often are used to smear menthol inside and heighten the sensations. It is thought the menthol mask produces both stimulant and depressant effects.

Energy drinks frequently are found and “speak to the rush” that many are seeking with caffeine and other legal and illegal substances, Dr. Christensen said.

Pseudoephedrine, the ingredient used to make methamphetamine, now also is seen in “mega-dosing” cases, he said.

Other “outdated” drugs, such as LSD, still make it to the drug scene. They may be sold as sugar cubes or stickers placed on tongues, just as they were several decades ago, Dr. Christensen said. Highlighter markers and lipstick holders often are used to smuggle in these tiny items.

Courtesy Dr. Randal C. Christensen

SCOTTSDALE, ARIZ. – Physicians need to talk seriously with adolescents about raves, the drug scene, family, and school to detect dangerous problems, an Arizona pediatrician advised physicians attending a pediatric update sponsored by Phoenix Children's Hospital.

Talking with adolescents without their parents present is essential, said Randal C. Christensen, M.D., medical director of the hospital's Crews 'N Healthmobile, a mobile medical unit serving homeless adolescents and children. “This should start at about 11 or 12 years of age.

“It's surprising how open [preadolescents and] adolescents can be about their lives,” he said.

“Some things should be kept confidential, but nothing that could be harmful to the patient.”

The latest fad in the teen world is raves, dusk-to-dawn dance parties with fast music, techno sound, and light shows. “They are often promoted as alcohol-free, high-security events,” he said.

What more could parents ask for?

“It's a cover-up,” he said. “There is a dark side to these events.” What isn't advertised is that club drugs, such as ecstasy, methamphetamine, rohypnol, and γ-hydroxybutyrate (GHB) are often free-flowing at these functions. The Internet has provided easy access to these events by advertising, state by state, the locations and times, Dr. Christensen said. “All you have to do is type in 'rave' and your city.”

“We're talking about promoters making millions of dollars just on the cover charge and the legal stuff that is sold there,” he said.

But many times, the latest drugs are easily available at these events.

One of the most popular is ecstasy, or methylenedioxymethamphetamine (MDMA). “It enhances the sight, sounds, and touch,” he said. It also raises the body temperature and causes teeth clenching–so bottled water, flavored pacifiers, and candy necklaces are sold at these events to help ease these symptoms.

Although the use of ecstasy peaked in 2001, it continues to be high, with close to 2 million youths admitting to using the drug. And while ecstasy use has decreased among eighth graders, the use of inhalants is rising at an “alarming rate” among this age group, he said.

Now 12th graders are increasing their use of prescription drugs, with 1 in 10 admitting to use of oxycodone on at least one occasion, Dr. Christensen said.

Physicians need to be savvy about what drugs are in use, he said. This easily can be done by looking at Web sites that explain not only the effects but also the popular usage of these illegal drugs.

“Physicians need to ask questions to open the lines of communication. This can be done during the regular child health check-up,” out of the parents' presence, Dr. Christensen said, adding that “this should be nonchallenging and done in an open style.”

Ask about how well a teenager is doing at home and school, what outside activities the patient participates in, if he or she has used drugs, about diet, sexual activity, depression, and whether the patient has had thoughts of suicide.

If the adolescent has good friends, a good relationship with family, and is doing well in school but admits to drinking a beer or trying marijuana once, then perhaps this information should be kept confidential, he said. However, if the adolescent has been skipping school, making bad grades, has a deteriorating relationship with family, is using drugs regularly, and has “gone wild,” then the confidentiality should be broken, Dr. Christensen said.

“This should be discussed with parents,” he said.

Not-So-Innocent Paraphernalia at Raves

Water, menthol, and highlighter markers are just a few of the items commonly found at raves for less-than-innocent reasons.

Pictured are a number of the items found at raves.

Ecstasy use often results in dehydration and hyperthermia, so water is frequently sold at raves at great profit, said Dr. Christensen. Bottled water also may be the vehicle in which other drugs, such as GHB, are smuggled into the clubs; flavored water is often used to mask the taste.

Baby pacifiers and hard candy often are seen at raves because one side effect of MDMA is teeth clenching.

MDMA enhances sensations, and items that produce bright lights (such as lightsticks) or strong aromas (such as menthol) are brought to raves. Masks often are used to smear menthol inside and heighten the sensations. It is thought the menthol mask produces both stimulant and depressant effects.

Energy drinks frequently are found and “speak to the rush” that many are seeking with caffeine and other legal and illegal substances, Dr. Christensen said.

Pseudoephedrine, the ingredient used to make methamphetamine, now also is seen in “mega-dosing” cases, he said.

Other “outdated” drugs, such as LSD, still make it to the drug scene. They may be sold as sugar cubes or stickers placed on tongues, just as they were several decades ago, Dr. Christensen said. Highlighter markers and lipstick holders often are used to smuggle in these tiny items.

Courtesy Dr. Randal C. Christensen

GRAPEVINE, TEX. — Patients with a history of neurofibromatosis type 1 do not have an increased risk of cancer after they reach adulthood, according to findings from a study conducted in Denmark.

In a long-term follow-up study of 212 individuals with neurofibromatosis type 1 (NF1) and 128 relatives, children and adolescents with neurofibromatosis had twice the expected rate of cancer—but during adulthood, their risk of cancer was no different from that of the general population, S. Asger Sorensen, M.D., reported at a meeting sponsored by the American College of Medical Genetics.

“It was thought that patients with this disorder had a higher rate of cancer not only in childhood but in the later years of life,” said Dr. Sorensen, emeritus professor of genetics at the University of Copenhagen.

Individuals with NF1 were thought to have an increased risk of developing breast cancer or other malignancies during adulthood. “But there seems to be no excess of cancer in neurofibromatosis patients at older ages,” he said.

Neurofibromatosis—an autosomal dominant disorder that results in tumor growth—affects 1 person in 4,000, with about 100,000 Americans estimated to have the condition. These figures included both forms of the disease, type 1 and type 2.

The probands in the study had been hospitalized with the disease, whereas the affected relatives had milder cases of disease and were diagnosed only after the start of the initial study, noted John Mulvihill, M.D., professor of genetics at the University of Oklahoma Health Sciences Center, Oklahoma City.

Dr. Mulvihill, a coauthor of the study, said cancer incidence was higher in the probands who had been hospitalized than in other affected family members. “Mortality was worse in children and adolescents but much worse in the hospital-based cases than other family members who were affected. Some patients never wind up in the hospital.”

The patients, some of whom were identified as early as 1924, were first described in a 1951 study and were followed up in 1983 and 2003, Dr. Sorensen said.

In 1983, the researchers evaluated the remaining 16 NF1 patients who had been hospitalized with the disease and 26 relatives diagnosed in the 1951 study as having milder forms of NF1. By the time of the March 2003 follow-up, only five relatives were still alive.

Death certificates and hospital records were obtained for the 37 individuals who died after the 1983 follow-up. Survival curves were prepared by standard life-table methods, and the causes of death were compared with those in the general population.

At the latest follow-up, the survival rate showed the same trend as that observed at the first follow-up. The causes of death were similar to the causes of death in the population at large.

Among the 16 probands and 26 affected relatives, 5 had a cancer, all outside the nervous system. For the entire cohort, the age at cancer diagnosis was significantly younger among individuals with NF1 occurring primarily in childhood and adolescence.

But by adulthood, the incidence of cancer had leveled off, Dr. Sorensen said.

The excess cancer rate in childhood involved cancer of the nervous system, brain, and peripheral nerves, Dr. Mulvihill said.

“This is an important study,” he said. “The picture isn't as bad as people thought. When doctors talk with a couple about what lies ahead for them, they don't want to paint a picture that is overly grim.”

“What is new is that the excess rate of cancer is confined to a young age,” Dr. Mulvihill said. “Kids and adolescents with NF1 have excess cancer, but after that, the cancer rate approaches that of the average population.”

GRAPEVINE, TEX. — Patients with a history of neurofibromatosis type 1 do not have an increased risk of cancer after they reach adulthood, according to findings from a study conducted in Denmark.

In a long-term follow-up study of 212 individuals with neurofibromatosis type 1 (NF1) and 128 relatives, children and adolescents with neurofibromatosis had twice the expected rate of cancer—but during adulthood, their risk of cancer was no different from that of the general population, S. Asger Sorensen, M.D., reported at a meeting sponsored by the American College of Medical Genetics.

“It was thought that patients with this disorder had a higher rate of cancer not only in childhood but in the later years of life,” said Dr. Sorensen, emeritus professor of genetics at the University of Copenhagen.

Individuals with NF1 were thought to have an increased risk of developing breast cancer or other malignancies during adulthood. “But there seems to be no excess of cancer in neurofibromatosis patients at older ages,” he said.

Neurofibromatosis—an autosomal dominant disorder that results in tumor growth—affects 1 person in 4,000, with about 100,000 Americans estimated to have the condition. These figures included both forms of the disease, type 1 and type 2.

The probands in the study had been hospitalized with the disease, whereas the affected relatives had milder cases of disease and were diagnosed only after the start of the initial study, noted John Mulvihill, M.D., professor of genetics at the University of Oklahoma Health Sciences Center, Oklahoma City.

Dr. Mulvihill, a coauthor of the study, said cancer incidence was higher in the probands who had been hospitalized than in other affected family members. “Mortality was worse in children and adolescents but much worse in the hospital-based cases than other family members who were affected. Some patients never wind up in the hospital.”

The patients, some of whom were identified as early as 1924, were first described in a 1951 study and were followed up in 1983 and 2003, Dr. Sorensen said.

In 1983, the researchers evaluated the remaining 16 NF1 patients who had been hospitalized with the disease and 26 relatives diagnosed in the 1951 study as having milder forms of NF1. By the time of the March 2003 follow-up, only five relatives were still alive.

Death certificates and hospital records were obtained for the 37 individuals who died after the 1983 follow-up. Survival curves were prepared by standard life-table methods, and the causes of death were compared with those in the general population.

At the latest follow-up, the survival rate showed the same trend as that observed at the first follow-up. The causes of death were similar to the causes of death in the population at large.

Among the 16 probands and 26 affected relatives, 5 had a cancer, all outside the nervous system. For the entire cohort, the age at cancer diagnosis was significantly younger among individuals with NF1 occurring primarily in childhood and adolescence.

But by adulthood, the incidence of cancer had leveled off, Dr. Sorensen said.

The excess cancer rate in childhood involved cancer of the nervous system, brain, and peripheral nerves, Dr. Mulvihill said.

“This is an important study,” he said. “The picture isn't as bad as people thought. When doctors talk with a couple about what lies ahead for them, they don't want to paint a picture that is overly grim.”

“What is new is that the excess rate of cancer is confined to a young age,” Dr. Mulvihill said. “Kids and adolescents with NF1 have excess cancer, but after that, the cancer rate approaches that of the average population.”

GRAPEVINE, TEX. — Patients with a history of neurofibromatosis type 1 do not have an increased risk of cancer after they reach adulthood, according to findings from a study conducted in Denmark.

In a long-term follow-up study of 212 individuals with neurofibromatosis type 1 (NF1) and 128 relatives, children and adolescents with neurofibromatosis had twice the expected rate of cancer—but during adulthood, their risk of cancer was no different from that of the general population, S. Asger Sorensen, M.D., reported at a meeting sponsored by the American College of Medical Genetics.

“It was thought that patients with this disorder had a higher rate of cancer not only in childhood but in the later years of life,” said Dr. Sorensen, emeritus professor of genetics at the University of Copenhagen.

Individuals with NF1 were thought to have an increased risk of developing breast cancer or other malignancies during adulthood. “But there seems to be no excess of cancer in neurofibromatosis patients at older ages,” he said.

Neurofibromatosis—an autosomal dominant disorder that results in tumor growth—affects 1 person in 4,000, with about 100,000 Americans estimated to have the condition. These figures included both forms of the disease, type 1 and type 2.

The probands in the study had been hospitalized with the disease, whereas the affected relatives had milder cases of disease and were diagnosed only after the start of the initial study, noted John Mulvihill, M.D., professor of genetics at the University of Oklahoma Health Sciences Center, Oklahoma City.

Dr. Mulvihill, a coauthor of the study, said cancer incidence was higher in the probands who had been hospitalized than in other affected family members. “Mortality was worse in children and adolescents but much worse in the hospital-based cases than other family members who were affected. Some patients never wind up in the hospital.”

The patients, some of whom were identified as early as 1924, were first described in a 1951 study and were followed up in 1983 and 2003, Dr. Sorensen said.

In 1983, the researchers evaluated the remaining 16 NF1 patients who had been hospitalized with the disease and 26 relatives diagnosed in the 1951 study as having milder forms of NF1. By the time of the March 2003 follow-up, only five relatives were still alive.

Death certificates and hospital records were obtained for the 37 individuals who died after the 1983 follow-up. Survival curves were prepared by standard life-table methods, and the causes of death were compared with those in the general population.

At the latest follow-up, the survival rate showed the same trend as that observed at the first follow-up. The causes of death were similar to the causes of death in the population at large.

Among the 16 probands and 26 affected relatives, 5 had a cancer, all outside the nervous system. For the entire cohort, the age at cancer diagnosis was significantly younger among individuals with NF1 occurring primarily in childhood and adolescence.

But by adulthood, the incidence of cancer had leveled off, Dr. Sorensen said.

The excess cancer rate in childhood involved cancer of the nervous system, brain, and peripheral nerves, Dr. Mulvihill said.

“This is an important study,” he said. “The picture isn't as bad as people thought. When doctors talk with a couple about what lies ahead for them, they don't want to paint a picture that is overly grim.”

“What is new is that the excess rate of cancer is confined to a young age,” Dr. Mulvihill said. “Kids and adolescents with NF1 have excess cancer, but after that, the cancer rate approaches that of the average population.”

SCOTTSDALE, ARIZ. — Vaccination for hepatitis A should be extended to children above the age of 2 with catch-up immunization for older children and adolescents, William F. Balistreri, M.D., advised.

“We need to rethink the vaccine strategy to see if we can have a rational plan for hepatitis A that would be more inclusive,” said Dr. Balistreri, director of pediatric gastroenterology, hepatology, and nutrition at Children's Medical Center, Cincinnati.

He advised pediatricians to vaccinate children over the age of 2 years.

“Pediatricians need to get beyond these barriers and vaccinate these children. We have a vaccine that works. We have a disease that can kill,” Dr Balistreri said in an interview.

Major outbreaks of hepatitis A still occur in the United States; the majority of these are food borne, he said at a pediatric update sponsored by the Phoenix Children's Hospital. Children play a vital role in the spread of hepatitis A virus, which can be transmitted through food, fecal matter, and person-to-person contact.

“Day care is a hotbed for transmission,” he said. “You have lots of children, few caretakers, everything goes in the mouth, caretakers may change the diaper on the same surface where children play, and children excrete the virus longer [than adults].”

To make matters worse, a young child can be infected and have few, if any, symptoms. Usually, outbreaks in day-care centers are detected only after the adult contacts become sick, he said.

While 85% of adults will become jaundiced, only about 10%–15% of children do. Children are likely to have a mild fever, a runny nose, and maybe a little diarrhea, Dr. Balistreri said. “Some children have no symptoms whatsoever.”

In contrast, adults become jaundiced and have nausea, vomiting, anorexia, and abdominal pain. It can be deadly for some adults. “Children and young adults do fairly well,” he said. “But for anyone over the age of 49, the mortality is up to 3%–4%. This is a disease that can take lives.”

If middle-aged adults are infected, this form of hepatitis can be devastating and costly, he said. There are more than 63,000 symptomatic infections in adults each year, resulting in 8,403 hospitalizations and 255 deaths. The illness results in 829,000 work loss days, 7,466 years of life lost at an annual cost of $489 million.

“The bottom line is the vaccine is cost effective when you look at the implications,” said Dr. Balistreri.

Part of the problem is that 80% of children excrete the virus for 3 weeks, some as long as 6 weeks. This results in adults, who are hit much harder by the symptoms, being susceptible to the virus. “Not only are children not symptomatic, but they continue to excrete the virus,” he said. “No individual is sick at the time they are shedding.”

Something as simple as eating a school lunch can result in an outbreak, as evidence of the Michigan outbreak in 1997 shows, when strawberries contaminated in Mexico and processed in California were then shipped to the school lunch program in Michigan.

“We need to use a vaccine not only to protect the individual but the community, so it can't gain a foothold,” he said.

Once an outbreak occurs then immunoglobulin can be given to prevent symptomatic infection in contacts. While there is nothing wrong with this, the timing is off, Dr. Balistreri said. Prevention appears to be the most effective approach.

A Thailand study of 40,119 school-aged children showed the vaccine was effective in immunizing children against hepatitis A. Of the 19,037 children given the vaccine, 94% developed antibodies in 8 months and 99% developed antibodies at 17 months. There were 38 cases of clinical hepatitis A in the control group, compared with only 2 in the vaccinated children, both of whom were probably infected with the virus at time of vaccination.

Currently, hepatitis A vaccination is recommended for those with occupational risks, such as health care and day-care workers, travelers to endemic regions, children in high-rate communities, persons with chronic liver disease, those with high-risk behaviors, and transplant recipients or others who are immune depressed.

When it was found that Native American children had a fourfold higher rate, the children were vaccinated, he said. That rate dramatically dropped after vaccinations were provided in 1996. Three years later, children in 11 Western states—where the incidence of hepatitis A was twice the national average—were targeted.

“It did a great job in those states with a high rate,” he said, but the adjoining states then developed a higher incidence. “The virus shifted east. The virus doesn't respect state lines.”

That's the problem in only targeting high-risk groups, he said.

Health officials should learn from the experience of hepatitis B, he said, where targeting the high-risk groups did not result in a substantial reduction in the frequency of hepatitis B. “We lost 10 years because we didn't start off with a universal vaccination program,” he said.

He gave the example of migrant children in Florida where 244 children were tested and on average half already had been infected. The numbers increased with age with 34% of the 2- to 5-year-olds testing positive for hepatitis A antibodies and 81% of the 14-year-old and over group testing positive.

“In a community that wasn't targeted, about half of the children already had been infected. This is a missed opportunity.”

The biggest impediments to universal hepatitis A vaccination in children include cost, addition of yet another vaccination to a complex schedule, and the rising fear among some parents about vaccination.

SCOTTSDALE, ARIZ. — Vaccination for hepatitis A should be extended to children above the age of 2 with catch-up immunization for older children and adolescents, William F. Balistreri, M.D., advised.

“We need to rethink the vaccine strategy to see if we can have a rational plan for hepatitis A that would be more inclusive,” said Dr. Balistreri, director of pediatric gastroenterology, hepatology, and nutrition at Children's Medical Center, Cincinnati.

He advised pediatricians to vaccinate children over the age of 2 years.

“Pediatricians need to get beyond these barriers and vaccinate these children. We have a vaccine that works. We have a disease that can kill,” Dr Balistreri said in an interview.

Major outbreaks of hepatitis A still occur in the United States; the majority of these are food borne, he said at a pediatric update sponsored by the Phoenix Children's Hospital. Children play a vital role in the spread of hepatitis A virus, which can be transmitted through food, fecal matter, and person-to-person contact.

“Day care is a hotbed for transmission,” he said. “You have lots of children, few caretakers, everything goes in the mouth, caretakers may change the diaper on the same surface where children play, and children excrete the virus longer [than adults].”

To make matters worse, a young child can be infected and have few, if any, symptoms. Usually, outbreaks in day-care centers are detected only after the adult contacts become sick, he said.

While 85% of adults will become jaundiced, only about 10%–15% of children do. Children are likely to have a mild fever, a runny nose, and maybe a little diarrhea, Dr. Balistreri said. “Some children have no symptoms whatsoever.”

In contrast, adults become jaundiced and have nausea, vomiting, anorexia, and abdominal pain. It can be deadly for some adults. “Children and young adults do fairly well,” he said. “But for anyone over the age of 49, the mortality is up to 3%–4%. This is a disease that can take lives.”

If middle-aged adults are infected, this form of hepatitis can be devastating and costly, he said. There are more than 63,000 symptomatic infections in adults each year, resulting in 8,403 hospitalizations and 255 deaths. The illness results in 829,000 work loss days, 7,466 years of life lost at an annual cost of $489 million.

“The bottom line is the vaccine is cost effective when you look at the implications,” said Dr. Balistreri.

Part of the problem is that 80% of children excrete the virus for 3 weeks, some as long as 6 weeks. This results in adults, who are hit much harder by the symptoms, being susceptible to the virus. “Not only are children not symptomatic, but they continue to excrete the virus,” he said. “No individual is sick at the time they are shedding.”

Something as simple as eating a school lunch can result in an outbreak, as evidence of the Michigan outbreak in 1997 shows, when strawberries contaminated in Mexico and processed in California were then shipped to the school lunch program in Michigan.

“We need to use a vaccine not only to protect the individual but the community, so it can't gain a foothold,” he said.

Once an outbreak occurs then immunoglobulin can be given to prevent symptomatic infection in contacts. While there is nothing wrong with this, the timing is off, Dr. Balistreri said. Prevention appears to be the most effective approach.

A Thailand study of 40,119 school-aged children showed the vaccine was effective in immunizing children against hepatitis A. Of the 19,037 children given the vaccine, 94% developed antibodies in 8 months and 99% developed antibodies at 17 months. There were 38 cases of clinical hepatitis A in the control group, compared with only 2 in the vaccinated children, both of whom were probably infected with the virus at time of vaccination.

Currently, hepatitis A vaccination is recommended for those with occupational risks, such as health care and day-care workers, travelers to endemic regions, children in high-rate communities, persons with chronic liver disease, those with high-risk behaviors, and transplant recipients or others who are immune depressed.

When it was found that Native American children had a fourfold higher rate, the children were vaccinated, he said. That rate dramatically dropped after vaccinations were provided in 1996. Three years later, children in 11 Western states—where the incidence of hepatitis A was twice the national average—were targeted.

“It did a great job in those states with a high rate,” he said, but the adjoining states then developed a higher incidence. “The virus shifted east. The virus doesn't respect state lines.”

That's the problem in only targeting high-risk groups, he said.

Health officials should learn from the experience of hepatitis B, he said, where targeting the high-risk groups did not result in a substantial reduction in the frequency of hepatitis B. “We lost 10 years because we didn't start off with a universal vaccination program,” he said.

He gave the example of migrant children in Florida where 244 children were tested and on average half already had been infected. The numbers increased with age with 34% of the 2- to 5-year-olds testing positive for hepatitis A antibodies and 81% of the 14-year-old and over group testing positive.

“In a community that wasn't targeted, about half of the children already had been infected. This is a missed opportunity.”

The biggest impediments to universal hepatitis A vaccination in children include cost, addition of yet another vaccination to a complex schedule, and the rising fear among some parents about vaccination.

SCOTTSDALE, ARIZ. — Vaccination for hepatitis A should be extended to children above the age of 2 with catch-up immunization for older children and adolescents, William F. Balistreri, M.D., advised.

“We need to rethink the vaccine strategy to see if we can have a rational plan for hepatitis A that would be more inclusive,” said Dr. Balistreri, director of pediatric gastroenterology, hepatology, and nutrition at Children's Medical Center, Cincinnati.

He advised pediatricians to vaccinate children over the age of 2 years.

“Pediatricians need to get beyond these barriers and vaccinate these children. We have a vaccine that works. We have a disease that can kill,” Dr Balistreri said in an interview.

Major outbreaks of hepatitis A still occur in the United States; the majority of these are food borne, he said at a pediatric update sponsored by the Phoenix Children's Hospital. Children play a vital role in the spread of hepatitis A virus, which can be transmitted through food, fecal matter, and person-to-person contact.

“Day care is a hotbed for transmission,” he said. “You have lots of children, few caretakers, everything goes in the mouth, caretakers may change the diaper on the same surface where children play, and children excrete the virus longer [than adults].”

To make matters worse, a young child can be infected and have few, if any, symptoms. Usually, outbreaks in day-care centers are detected only after the adult contacts become sick, he said.

While 85% of adults will become jaundiced, only about 10%–15% of children do. Children are likely to have a mild fever, a runny nose, and maybe a little diarrhea, Dr. Balistreri said. “Some children have no symptoms whatsoever.”

In contrast, adults become jaundiced and have nausea, vomiting, anorexia, and abdominal pain. It can be deadly for some adults. “Children and young adults do fairly well,” he said. “But for anyone over the age of 49, the mortality is up to 3%–4%. This is a disease that can take lives.”

If middle-aged adults are infected, this form of hepatitis can be devastating and costly, he said. There are more than 63,000 symptomatic infections in adults each year, resulting in 8,403 hospitalizations and 255 deaths. The illness results in 829,000 work loss days, 7,466 years of life lost at an annual cost of $489 million.

“The bottom line is the vaccine is cost effective when you look at the implications,” said Dr. Balistreri.

Part of the problem is that 80% of children excrete the virus for 3 weeks, some as long as 6 weeks. This results in adults, who are hit much harder by the symptoms, being susceptible to the virus. “Not only are children not symptomatic, but they continue to excrete the virus,” he said. “No individual is sick at the time they are shedding.”

Something as simple as eating a school lunch can result in an outbreak, as evidence of the Michigan outbreak in 1997 shows, when strawberries contaminated in Mexico and processed in California were then shipped to the school lunch program in Michigan.

“We need to use a vaccine not only to protect the individual but the community, so it can't gain a foothold,” he said.

Once an outbreak occurs then immunoglobulin can be given to prevent symptomatic infection in contacts. While there is nothing wrong with this, the timing is off, Dr. Balistreri said. Prevention appears to be the most effective approach.

A Thailand study of 40,119 school-aged children showed the vaccine was effective in immunizing children against hepatitis A. Of the 19,037 children given the vaccine, 94% developed antibodies in 8 months and 99% developed antibodies at 17 months. There were 38 cases of clinical hepatitis A in the control group, compared with only 2 in the vaccinated children, both of whom were probably infected with the virus at time of vaccination.

Currently, hepatitis A vaccination is recommended for those with occupational risks, such as health care and day-care workers, travelers to endemic regions, children in high-rate communities, persons with chronic liver disease, those with high-risk behaviors, and transplant recipients or others who are immune depressed.

When it was found that Native American children had a fourfold higher rate, the children were vaccinated, he said. That rate dramatically dropped after vaccinations were provided in 1996. Three years later, children in 11 Western states—where the incidence of hepatitis A was twice the national average—were targeted.

“It did a great job in those states with a high rate,” he said, but the adjoining states then developed a higher incidence. “The virus shifted east. The virus doesn't respect state lines.”

That's the problem in only targeting high-risk groups, he said.

Health officials should learn from the experience of hepatitis B, he said, where targeting the high-risk groups did not result in a substantial reduction in the frequency of hepatitis B. “We lost 10 years because we didn't start off with a universal vaccination program,” he said.

He gave the example of migrant children in Florida where 244 children were tested and on average half already had been infected. The numbers increased with age with 34% of the 2- to 5-year-olds testing positive for hepatitis A antibodies and 81% of the 14-year-old and over group testing positive.

“In a community that wasn't targeted, about half of the children already had been infected. This is a missed opportunity.”

The biggest impediments to universal hepatitis A vaccination in children include cost, addition of yet another vaccination to a complex schedule, and the rising fear among some parents about vaccination.

GRAPEVINE, TEX. — African American women are almost as likely to pursue genetic testing for breast cancer as are white women, North Carolina researchers report.

“There is a perception in the genetic counseling field that African Americans are less likely to pursue genetic testing when it's offered,” said Lisa Susswein, genetic counselor, University of North Carolina at Chapel Hill. “It has been thought that there were cultural barriers and, possibly, the inability to pay that kept African Americans from genetic testing.”

But when women diagnosed with or at high risk for breast cancer were offered a test to detect BRCA1 or BRCA2 gene mutations, both African Americans and whites accepted. The results were presented at a meeting sponsored by the American College of Medical Genetics.

The test was offered to women who exceeded a 5%-10% risk of harboring a BRCA mutation as well as to women recently diagnosed with breast cancer. The test was offered to more than 800 women referred to the center.

Of those in the overall high-risk population who were offered the test, 58% of white women and 43% of African American women pursued the test. Among those women recently diagnosed with breast cancer, acceptance was 61% among whites and 50% among African American women, which was not a statistically significant difference.

Many studies have shown African American women are less likely to pursue genetics testing, she said. “This may have been perpetuated by physicians not offering genetics testing, and it's a circle that continues.”

Overall, regardless of race, it is important to do testing in breast cancer patients before the primary surgery so they can be given the opportunity to have one surgery with prophylactic double mastectomies, Ms. Susswein said.

“This could save the patient from multiple surgeries down the line,” she commented.

“This shows that African American women are interested in BRCA testing,” Ms. Susswein said. “We … shouldn't shy away from offering them the test.”

GRAPEVINE, TEX. — African American women are almost as likely to pursue genetic testing for breast cancer as are white women, North Carolina researchers report.

“There is a perception in the genetic counseling field that African Americans are less likely to pursue genetic testing when it's offered,” said Lisa Susswein, genetic counselor, University of North Carolina at Chapel Hill. “It has been thought that there were cultural barriers and, possibly, the inability to pay that kept African Americans from genetic testing.”

But when women diagnosed with or at high risk for breast cancer were offered a test to detect BRCA1 or BRCA2 gene mutations, both African Americans and whites accepted. The results were presented at a meeting sponsored by the American College of Medical Genetics.

The test was offered to women who exceeded a 5%-10% risk of harboring a BRCA mutation as well as to women recently diagnosed with breast cancer. The test was offered to more than 800 women referred to the center.

Of those in the overall high-risk population who were offered the test, 58% of white women and 43% of African American women pursued the test. Among those women recently diagnosed with breast cancer, acceptance was 61% among whites and 50% among African American women, which was not a statistically significant difference.

Many studies have shown African American women are less likely to pursue genetics testing, she said. “This may have been perpetuated by physicians not offering genetics testing, and it's a circle that continues.”

Overall, regardless of race, it is important to do testing in breast cancer patients before the primary surgery so they can be given the opportunity to have one surgery with prophylactic double mastectomies, Ms. Susswein said.

“This could save the patient from multiple surgeries down the line,” she commented.

“This shows that African American women are interested in BRCA testing,” Ms. Susswein said. “We … shouldn't shy away from offering them the test.”

GRAPEVINE, TEX. — African American women are almost as likely to pursue genetic testing for breast cancer as are white women, North Carolina researchers report.

“There is a perception in the genetic counseling field that African Americans are less likely to pursue genetic testing when it's offered,” said Lisa Susswein, genetic counselor, University of North Carolina at Chapel Hill. “It has been thought that there were cultural barriers and, possibly, the inability to pay that kept African Americans from genetic testing.”

But when women diagnosed with or at high risk for breast cancer were offered a test to detect BRCA1 or BRCA2 gene mutations, both African Americans and whites accepted. The results were presented at a meeting sponsored by the American College of Medical Genetics.

The test was offered to women who exceeded a 5%-10% risk of harboring a BRCA mutation as well as to women recently diagnosed with breast cancer. The test was offered to more than 800 women referred to the center.

Of those in the overall high-risk population who were offered the test, 58% of white women and 43% of African American women pursued the test. Among those women recently diagnosed with breast cancer, acceptance was 61% among whites and 50% among African American women, which was not a statistically significant difference.

Many studies have shown African American women are less likely to pursue genetics testing, she said. “This may have been perpetuated by physicians not offering genetics testing, and it's a circle that continues.”

Overall, regardless of race, it is important to do testing in breast cancer patients before the primary surgery so they can be given the opportunity to have one surgery with prophylactic double mastectomies, Ms. Susswein said.

“This could save the patient from multiple surgeries down the line,” she commented.

“This shows that African American women are interested in BRCA testing,” Ms. Susswein said. “We … shouldn't shy away from offering them the test.”

GRAPEVINE, TEX. — Researchers are attempting to develop a first-trimester cervical swab test to detect fetal genetic disorders.

While the test still is under development, if proven effective, it could provide noninvasive, earlier prenatal screening and possibly eliminate the need for amniocentesis and chorionic villi sampling (CVS).

“Early prenatal diagnosis to detect fetal genetic disorders is desired by both expectant mothers and physicians to make informed decisions,” Farideh Z. Bischoff, Ph.D., of Baylor College of Medicine, Houston, said at a meeting sponsored by the American College of Medical Genetics.

“Current methods of prenatal testing carry a small but finite risk of miscarriage, and the results rarely are available before 12 to 16 weeks of pregnancy, due to the time required for cell culture,” Dr. Bischoff said.

Recovery and analysis of fetal trophoblast cells would provide a safe alternative approach for rapid noninvasive prenatal diagnosis, she said.

The researchers are using micro electro mechanism system (MEMS) channels to isolate, purify, and characterize fetal trophoblasts from maternal transcervical mucous specimens. The trophoblast cells migrate from the placenta to the endocervical canal.

In a pilot study, the researchers were able to take cervical swab specimens from 17 women during the first trimester, and trophoblasts were detected in all.

The swab specimens were taken during the first trimester of pregnancy, between 8 and 12 weeks. Samples were washed and processed using a novel MEMS device coated with a proprietary reagent and trophoblast specific antibody.

Although only 0.02% to 1.94% of the initial total cell populations were trophoblasts, the recovered cell population was determined to be predominately of trophoblast origin. Trophoblast isolation was optimal in samples not contaminated by blood.

Now investigations are underway to detect fetal chromosomal aneuploidy and diagnostic potential using fluorescent in situ hybridization and polymerase chain reaction-based methods, Dr. Bischoff said.

GRAPEVINE, TEX. — Researchers are attempting to develop a first-trimester cervical swab test to detect fetal genetic disorders.

While the test still is under development, if proven effective, it could provide noninvasive, earlier prenatal screening and possibly eliminate the need for amniocentesis and chorionic villi sampling (CVS).

“Early prenatal diagnosis to detect fetal genetic disorders is desired by both expectant mothers and physicians to make informed decisions,” Farideh Z. Bischoff, Ph.D., of Baylor College of Medicine, Houston, said at a meeting sponsored by the American College of Medical Genetics.

“Current methods of prenatal testing carry a small but finite risk of miscarriage, and the results rarely are available before 12 to 16 weeks of pregnancy, due to the time required for cell culture,” Dr. Bischoff said.

Recovery and analysis of fetal trophoblast cells would provide a safe alternative approach for rapid noninvasive prenatal diagnosis, she said.

The researchers are using micro electro mechanism system (MEMS) channels to isolate, purify, and characterize fetal trophoblasts from maternal transcervical mucous specimens. The trophoblast cells migrate from the placenta to the endocervical canal.

In a pilot study, the researchers were able to take cervical swab specimens from 17 women during the first trimester, and trophoblasts were detected in all.

The swab specimens were taken during the first trimester of pregnancy, between 8 and 12 weeks. Samples were washed and processed using a novel MEMS device coated with a proprietary reagent and trophoblast specific antibody.

Although only 0.02% to 1.94% of the initial total cell populations were trophoblasts, the recovered cell population was determined to be predominately of trophoblast origin. Trophoblast isolation was optimal in samples not contaminated by blood.

Now investigations are underway to detect fetal chromosomal aneuploidy and diagnostic potential using fluorescent in situ hybridization and polymerase chain reaction-based methods, Dr. Bischoff said.

GRAPEVINE, TEX. — Researchers are attempting to develop a first-trimester cervical swab test to detect fetal genetic disorders.

While the test still is under development, if proven effective, it could provide noninvasive, earlier prenatal screening and possibly eliminate the need for amniocentesis and chorionic villi sampling (CVS).

“Early prenatal diagnosis to detect fetal genetic disorders is desired by both expectant mothers and physicians to make informed decisions,” Farideh Z. Bischoff, Ph.D., of Baylor College of Medicine, Houston, said at a meeting sponsored by the American College of Medical Genetics.

“Current methods of prenatal testing carry a small but finite risk of miscarriage, and the results rarely are available before 12 to 16 weeks of pregnancy, due to the time required for cell culture,” Dr. Bischoff said.

Recovery and analysis of fetal trophoblast cells would provide a safe alternative approach for rapid noninvasive prenatal diagnosis, she said.

The researchers are using micro electro mechanism system (MEMS) channels to isolate, purify, and characterize fetal trophoblasts from maternal transcervical mucous specimens. The trophoblast cells migrate from the placenta to the endocervical canal.

In a pilot study, the researchers were able to take cervical swab specimens from 17 women during the first trimester, and trophoblasts were detected in all.

The swab specimens were taken during the first trimester of pregnancy, between 8 and 12 weeks. Samples were washed and processed using a novel MEMS device coated with a proprietary reagent and trophoblast specific antibody.

Although only 0.02% to 1.94% of the initial total cell populations were trophoblasts, the recovered cell population was determined to be predominately of trophoblast origin. Trophoblast isolation was optimal in samples not contaminated by blood.

Now investigations are underway to detect fetal chromosomal aneuploidy and diagnostic potential using fluorescent in situ hybridization and polymerase chain reaction-based methods, Dr. Bischoff said.

GRAPEVINE, TEX. — A strong family history of heart disease can increase an individual's future risk for coronary heart disease fourfold, and even a moderate family history can lead to a twofold increase in risk, a population-based study has shown.

“Most clinicians limit family history assessment to the presence of early-onset disease in a first-degree relative,” Maren Scheuner, M.D., said at a meeting sponsored by the American College of Medical Genetics. “However, familial risk is influenced by the number of affected relatives, their degree of relationship and lineage, and age at diagnosis.”

By analyzing data on 4,035 respondents to a national mail survey called HealthStyles, the researchers found that even a moderate history of coronary heart disease (CHD) increased the risk of CHD. Additionally, a strong family history of stroke also increased the CHD risk.

“If you have a family history of CHD, we know that it increases the risk,” said Dr. Scheuner of the department of health services at the University of California School of Public Health, Los Angeles. “We have shown that a family history of stroke also influences the risk of CHD.”

The researchers stratified respondents' family history of CHD and stroke as weak, moderate, or strong. Those with a strong family history had one or more family members with onset of heart disease or stroke at or before age 60. Those with a moderate family history had one or two family members with heart disease or stroke at a later age. Those with a weak family history had no relatives with heart disease or stroke or only one or two affected second-degree relatives. The survey also obtained self-reported information on risk factors such as diabetes, hypertension, high cholesterol, and obesity.

Individuals with strong family histories of CHD were four times as likely to have the disease, compared with those with a weak history. If three or four risk factors are present—such as diabetes, high blood pressure, high cholesterol, and obesity—the risk is increased 27 times given a strong familial CHD risk, compared with those with a weak family history of heart disease and no risk factors. If only two risk factors are present, then the risk is increased 19 times, and if no risk factors are present, then the risk for CHD associated with strong familial CHD is increased only twofold.

Turning to the risk of stroke, a person with a strong family history of CHD has 2.5 times the risk of stroke as a person with a weak family history of CHD. And an individual with a strong family history of stroke has a threefold increase in the risk of a stroke and a twofold increase in the risk of CHD, she reported.

A strong family history of CHD was also associated with a 1.5-fold increased risk of diabetes, high cholesterol, high blood pressure, and obesity. A strong family history of stroke was associated with a twofold increase in diabetes and a 1.5-fold increase in high blood pressure and obesity, respectively.

Moderate family histories of CHD resulted in a twofold increase in CHD, but not an increased risk for stroke, diabetes, high cholesterol, high blood pressure, or obesity. If there was a moderate family history of stroke, the risk of stroke was increased, but the risk for the other conditions was not increased.

Survey respondents were 60% female and 72% white, with a mean age of 48 years. Overall, 6.4% had a personal history of CHD, 4.2% had a personal history of stroke, and 12.3% had a personal history of diabetes. More than 15% of the respondents reported a family history of all three conditions. Almost one-third of respondents reported a strong family history of CHD; about 15% reported a strong family history of stroke.

The findings show that familial risk algorithms for CHD and stroke that incorporate characteristics such as age at diagnosis, number of affected relatives, and their degree of relationship and lineage, can stratify cardiovascular risk as moderate (about a 1.5- to 2.5-fold increase) or strong (about a 2.5- to 5-fold increase) Dr. Scheuner said.

Modifiable cardiovascular risk factors such as diabetes, high cholesterol, hypertension, and obesity are associated with strong familial CHD and stroke risk, and when present they substantially increase the cardiovascular risk.

The absence of risk factors diminishes the association between familial risk and CHD or stroke, she said.

GRAPEVINE, TEX. — A strong family history of heart disease can increase an individual's future risk for coronary heart disease fourfold, and even a moderate family history can lead to a twofold increase in risk, a population-based study has shown.

“Most clinicians limit family history assessment to the presence of early-onset disease in a first-degree relative,” Maren Scheuner, M.D., said at a meeting sponsored by the American College of Medical Genetics. “However, familial risk is influenced by the number of affected relatives, their degree of relationship and lineage, and age at diagnosis.”

By analyzing data on 4,035 respondents to a national mail survey called HealthStyles, the researchers found that even a moderate history of coronary heart disease (CHD) increased the risk of CHD. Additionally, a strong family history of stroke also increased the CHD risk.

“If you have a family history of CHD, we know that it increases the risk,” said Dr. Scheuner of the department of health services at the University of California School of Public Health, Los Angeles. “We have shown that a family history of stroke also influences the risk of CHD.”

The researchers stratified respondents' family history of CHD and stroke as weak, moderate, or strong. Those with a strong family history had one or more family members with onset of heart disease or stroke at or before age 60. Those with a moderate family history had one or two family members with heart disease or stroke at a later age. Those with a weak family history had no relatives with heart disease or stroke or only one or two affected second-degree relatives. The survey also obtained self-reported information on risk factors such as diabetes, hypertension, high cholesterol, and obesity.

Individuals with strong family histories of CHD were four times as likely to have the disease, compared with those with a weak history. If three or four risk factors are present—such as diabetes, high blood pressure, high cholesterol, and obesity—the risk is increased 27 times given a strong familial CHD risk, compared with those with a weak family history of heart disease and no risk factors. If only two risk factors are present, then the risk is increased 19 times, and if no risk factors are present, then the risk for CHD associated with strong familial CHD is increased only twofold.

Turning to the risk of stroke, a person with a strong family history of CHD has 2.5 times the risk of stroke as a person with a weak family history of CHD. And an individual with a strong family history of stroke has a threefold increase in the risk of a stroke and a twofold increase in the risk of CHD, she reported.

A strong family history of CHD was also associated with a 1.5-fold increased risk of diabetes, high cholesterol, high blood pressure, and obesity. A strong family history of stroke was associated with a twofold increase in diabetes and a 1.5-fold increase in high blood pressure and obesity, respectively.

Moderate family histories of CHD resulted in a twofold increase in CHD, but not an increased risk for stroke, diabetes, high cholesterol, high blood pressure, or obesity. If there was a moderate family history of stroke, the risk of stroke was increased, but the risk for the other conditions was not increased.

Survey respondents were 60% female and 72% white, with a mean age of 48 years. Overall, 6.4% had a personal history of CHD, 4.2% had a personal history of stroke, and 12.3% had a personal history of diabetes. More than 15% of the respondents reported a family history of all three conditions. Almost one-third of respondents reported a strong family history of CHD; about 15% reported a strong family history of stroke.

The findings show that familial risk algorithms for CHD and stroke that incorporate characteristics such as age at diagnosis, number of affected relatives, and their degree of relationship and lineage, can stratify cardiovascular risk as moderate (about a 1.5- to 2.5-fold increase) or strong (about a 2.5- to 5-fold increase) Dr. Scheuner said.

Modifiable cardiovascular risk factors such as diabetes, high cholesterol, hypertension, and obesity are associated with strong familial CHD and stroke risk, and when present they substantially increase the cardiovascular risk.

The absence of risk factors diminishes the association between familial risk and CHD or stroke, she said.

GRAPEVINE, TEX. — A strong family history of heart disease can increase an individual's future risk for coronary heart disease fourfold, and even a moderate family history can lead to a twofold increase in risk, a population-based study has shown.

“Most clinicians limit family history assessment to the presence of early-onset disease in a first-degree relative,” Maren Scheuner, M.D., said at a meeting sponsored by the American College of Medical Genetics. “However, familial risk is influenced by the number of affected relatives, their degree of relationship and lineage, and age at diagnosis.”

By analyzing data on 4,035 respondents to a national mail survey called HealthStyles, the researchers found that even a moderate history of coronary heart disease (CHD) increased the risk of CHD. Additionally, a strong family history of stroke also increased the CHD risk.

“If you have a family history of CHD, we know that it increases the risk,” said Dr. Scheuner of the department of health services at the University of California School of Public Health, Los Angeles. “We have shown that a family history of stroke also influences the risk of CHD.”

The researchers stratified respondents' family history of CHD and stroke as weak, moderate, or strong. Those with a strong family history had one or more family members with onset of heart disease or stroke at or before age 60. Those with a moderate family history had one or two family members with heart disease or stroke at a later age. Those with a weak family history had no relatives with heart disease or stroke or only one or two affected second-degree relatives. The survey also obtained self-reported information on risk factors such as diabetes, hypertension, high cholesterol, and obesity.

Individuals with strong family histories of CHD were four times as likely to have the disease, compared with those with a weak history. If three or four risk factors are present—such as diabetes, high blood pressure, high cholesterol, and obesity—the risk is increased 27 times given a strong familial CHD risk, compared with those with a weak family history of heart disease and no risk factors. If only two risk factors are present, then the risk is increased 19 times, and if no risk factors are present, then the risk for CHD associated with strong familial CHD is increased only twofold.

Turning to the risk of stroke, a person with a strong family history of CHD has 2.5 times the risk of stroke as a person with a weak family history of CHD. And an individual with a strong family history of stroke has a threefold increase in the risk of a stroke and a twofold increase in the risk of CHD, she reported.

A strong family history of CHD was also associated with a 1.5-fold increased risk of diabetes, high cholesterol, high blood pressure, and obesity. A strong family history of stroke was associated with a twofold increase in diabetes and a 1.5-fold increase in high blood pressure and obesity, respectively.

Moderate family histories of CHD resulted in a twofold increase in CHD, but not an increased risk for stroke, diabetes, high cholesterol, high blood pressure, or obesity. If there was a moderate family history of stroke, the risk of stroke was increased, but the risk for the other conditions was not increased.

Survey respondents were 60% female and 72% white, with a mean age of 48 years. Overall, 6.4% had a personal history of CHD, 4.2% had a personal history of stroke, and 12.3% had a personal history of diabetes. More than 15% of the respondents reported a family history of all three conditions. Almost one-third of respondents reported a strong family history of CHD; about 15% reported a strong family history of stroke.

The findings show that familial risk algorithms for CHD and stroke that incorporate characteristics such as age at diagnosis, number of affected relatives, and their degree of relationship and lineage, can stratify cardiovascular risk as moderate (about a 1.5- to 2.5-fold increase) or strong (about a 2.5- to 5-fold increase) Dr. Scheuner said.

Modifiable cardiovascular risk factors such as diabetes, high cholesterol, hypertension, and obesity are associated with strong familial CHD and stroke risk, and when present they substantially increase the cardiovascular risk.

The absence of risk factors diminishes the association between familial risk and CHD or stroke, she said.