TBD Meeting (3199-22)

People with a rare genetic condition that causes extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) may miss out on decades of treatment because of a lack of lipid screening in childhood, researchers reported at the annual meeting of the American Academy of Pediatrics.

The condition, homozygous familial hypercholesterolemia (FH), raises the risk for atherosclerotic cardiovascular disease (ASCVD) as early as the first decade of life.

Routine screening for FH is uncommon, however, the researchers said. Lack of familiarity with guidelines and limited access to lipid specialists have been cited as possible reasons for inconsistent screening practices.

“These findings and recent improvement in lipid lowering therapies make a compelling case for rigorous compliance with AAP’s guidelines on lipid screening for children with a family history of FH or ASCVD at age 2,” study coauthor Mary P. McGowan, MD, chief medical officer of the Family Heart Foundation, said in a statement about the new study.
 

Early consequences

To characterize patients with homozygous FH, Dr. McGowan and her colleagues examined data from 67 participants in the CASCADE-FH registry. The Family Heart Foundation created the registry in 2013, and 40 medical centers in the United States contribute data to the repository. The researchers had access to data about patients with homozygous FH from 20 centers in the registry.

Dr. McGowan’s group compared 16 patients with homozygous FH who enrolled in the registry when they were children and 51 patients who were adults at the time of their enrollment.

Patients enrolled as children had a median age at diagnosis of 2 years (interquartile range [IQR], 2-3.5), whereas patients enrolled as adults had a median age at diagnosis of 12.6 years (IQR, 4.1-26.5).

The median untreated level of LDL-C in those enrolled as children was 776 mg/dL (IQR, 704-892). Among those enrolled as adults, it was 533 mg/dL (IQR, 467-702).

Approximately 19% of those enrolled as children had evidence of aortic valve stenosis, and 43.8% had evidence of ASCVD. The median age at onset of ASCVD was 8.9 years. One child was diagnosed with ASCVD at age 2 years and underwent liver transplant at age 4 years. Another was diagnosed with the condition at age 3 years and underwent liver transplant at age 8 years. Two children underwent coronary artery bypass grafting at ages 6 years and 14 years. Five participants underwent liver transplant before age 18 years.

About 56% of participants who enrolled as children had xanthomas, or fat deposits in tendons, and none had corneal arcus — a gray-white line of fat deposits around the edge of the cornea, both of which can indicate homozygous FH in children.

Treatment reduced LDL-C substantially, but only 25% of children achieved goal levels of cholesterol, the researchers reported. Patients who received more lipid-lowering therapies had a better chance of reaching their target levels, they found.

The data raise “the possibility that only children with the most severe phenotypes are diagnosed before adulthood,” the researchers said.

Clinical diagnosis of homozygous FH can be based on LDL-C levels, family history, and the presence of xanthomas, the researchers noted. Many children do not have physical findings, however, and a lipid panel or genetic testing may be necessary.

“There is a clear need to implement universal screening” to identify all children with homozygous FH and heterozygous FH, a less severe and more common form of FH, Dr. McGowan said.
 

Possible missed cases

As many as 1 in 250 people may have heterozygous FH, and 1 in 300,000 people may have homozygous FH, according to estimates. Patients with homozygous FH have two FH genes, one from each parent. In patients with homozygous FH, levels of LDL-C levels typically range between 400 and 1,000 mg/dL without treatment, which is four to 10 times higher than normal concentrations of the blood fat, according to the Family Heart Foundation.

“This study adds to a growing body of literature – including our own work – demonstrating that recommended universal screening occurs in barely 1 in 5 children. This means some patients are not being recognized as having treatable diseases,” said Justin H. Berger, MD, PhD, a pediatric cardiologist at Children’s Hospital of Philadelphia.

Even among children who are at the highest risk for early onset adult-type heart disease, only a quarter to two-thirds receive recommended screening, said Dr. Berger, who was not a member of the study team.

While Dr. Berger advocates universal lipid screening, improving screening rates in practice probably isn’t as simple as telling clinicians to screen more, he said. “Increasing testing will increase health care spending and the burden on busy primary care providers without addressing who will subsequently evaluate and manage children with abnormal lipid screening results,” Dr. Berger said.

Instead, clinicians may want to focus on screening patients who are at risk, which “could have dramatic benefits for their life-long cardiovascular health,” he said.

Dr. McGowan disclosed ties to Abbott and Regeneron, and her coauthors disclosed ties to Esperion Therapeutics and research funding from Regeneron and REGENXBIO. Dr. Berger disclosed no relevant financial relationships.

A version of this article first appeared on Medscape.com.

People with a rare genetic condition that causes extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) may miss out on decades of treatment because of a lack of lipid screening in childhood, researchers reported at the annual meeting of the American Academy of Pediatrics.

The condition, homozygous familial hypercholesterolemia (FH), raises the risk for atherosclerotic cardiovascular disease (ASCVD) as early as the first decade of life.

Routine screening for FH is uncommon, however, the researchers said. Lack of familiarity with guidelines and limited access to lipid specialists have been cited as possible reasons for inconsistent screening practices.

“These findings and recent improvement in lipid lowering therapies make a compelling case for rigorous compliance with AAP’s guidelines on lipid screening for children with a family history of FH or ASCVD at age 2,” study coauthor Mary P. McGowan, MD, chief medical officer of the Family Heart Foundation, said in a statement about the new study.
 

Early consequences

To characterize patients with homozygous FH, Dr. McGowan and her colleagues examined data from 67 participants in the CASCADE-FH registry. The Family Heart Foundation created the registry in 2013, and 40 medical centers in the United States contribute data to the repository. The researchers had access to data about patients with homozygous FH from 20 centers in the registry.

Dr. McGowan’s group compared 16 patients with homozygous FH who enrolled in the registry when they were children and 51 patients who were adults at the time of their enrollment.

Patients enrolled as children had a median age at diagnosis of 2 years (interquartile range [IQR], 2-3.5), whereas patients enrolled as adults had a median age at diagnosis of 12.6 years (IQR, 4.1-26.5).

The median untreated level of LDL-C in those enrolled as children was 776 mg/dL (IQR, 704-892). Among those enrolled as adults, it was 533 mg/dL (IQR, 467-702).

Approximately 19% of those enrolled as children had evidence of aortic valve stenosis, and 43.8% had evidence of ASCVD. The median age at onset of ASCVD was 8.9 years. One child was diagnosed with ASCVD at age 2 years and underwent liver transplant at age 4 years. Another was diagnosed with the condition at age 3 years and underwent liver transplant at age 8 years. Two children underwent coronary artery bypass grafting at ages 6 years and 14 years. Five participants underwent liver transplant before age 18 years.

About 56% of participants who enrolled as children had xanthomas, or fat deposits in tendons, and none had corneal arcus — a gray-white line of fat deposits around the edge of the cornea, both of which can indicate homozygous FH in children.

Treatment reduced LDL-C substantially, but only 25% of children achieved goal levels of cholesterol, the researchers reported. Patients who received more lipid-lowering therapies had a better chance of reaching their target levels, they found.

The data raise “the possibility that only children with the most severe phenotypes are diagnosed before adulthood,” the researchers said.

Clinical diagnosis of homozygous FH can be based on LDL-C levels, family history, and the presence of xanthomas, the researchers noted. Many children do not have physical findings, however, and a lipid panel or genetic testing may be necessary.

“There is a clear need to implement universal screening” to identify all children with homozygous FH and heterozygous FH, a less severe and more common form of FH, Dr. McGowan said.
 

Possible missed cases

As many as 1 in 250 people may have heterozygous FH, and 1 in 300,000 people may have homozygous FH, according to estimates. Patients with homozygous FH have two FH genes, one from each parent. In patients with homozygous FH, levels of LDL-C levels typically range between 400 and 1,000 mg/dL without treatment, which is four to 10 times higher than normal concentrations of the blood fat, according to the Family Heart Foundation.

“This study adds to a growing body of literature – including our own work – demonstrating that recommended universal screening occurs in barely 1 in 5 children. This means some patients are not being recognized as having treatable diseases,” said Justin H. Berger, MD, PhD, a pediatric cardiologist at Children’s Hospital of Philadelphia.

Even among children who are at the highest risk for early onset adult-type heart disease, only a quarter to two-thirds receive recommended screening, said Dr. Berger, who was not a member of the study team.

While Dr. Berger advocates universal lipid screening, improving screening rates in practice probably isn’t as simple as telling clinicians to screen more, he said. “Increasing testing will increase health care spending and the burden on busy primary care providers without addressing who will subsequently evaluate and manage children with abnormal lipid screening results,” Dr. Berger said.

Instead, clinicians may want to focus on screening patients who are at risk, which “could have dramatic benefits for their life-long cardiovascular health,” he said.

Dr. McGowan disclosed ties to Abbott and Regeneron, and her coauthors disclosed ties to Esperion Therapeutics and research funding from Regeneron and REGENXBIO. Dr. Berger disclosed no relevant financial relationships.

A version of this article first appeared on Medscape.com.

People with a rare genetic condition that causes extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) may miss out on decades of treatment because of a lack of lipid screening in childhood, researchers reported at the annual meeting of the American Academy of Pediatrics.

The condition, homozygous familial hypercholesterolemia (FH), raises the risk for atherosclerotic cardiovascular disease (ASCVD) as early as the first decade of life.

Routine screening for FH is uncommon, however, the researchers said. Lack of familiarity with guidelines and limited access to lipid specialists have been cited as possible reasons for inconsistent screening practices.

“These findings and recent improvement in lipid lowering therapies make a compelling case for rigorous compliance with AAP’s guidelines on lipid screening for children with a family history of FH or ASCVD at age 2,” study coauthor Mary P. McGowan, MD, chief medical officer of the Family Heart Foundation, said in a statement about the new study.
 

Early consequences

To characterize patients with homozygous FH, Dr. McGowan and her colleagues examined data from 67 participants in the CASCADE-FH registry. The Family Heart Foundation created the registry in 2013, and 40 medical centers in the United States contribute data to the repository. The researchers had access to data about patients with homozygous FH from 20 centers in the registry.

Dr. McGowan’s group compared 16 patients with homozygous FH who enrolled in the registry when they were children and 51 patients who were adults at the time of their enrollment.

Patients enrolled as children had a median age at diagnosis of 2 years (interquartile range [IQR], 2-3.5), whereas patients enrolled as adults had a median age at diagnosis of 12.6 years (IQR, 4.1-26.5).

The median untreated level of LDL-C in those enrolled as children was 776 mg/dL (IQR, 704-892). Among those enrolled as adults, it was 533 mg/dL (IQR, 467-702).

Approximately 19% of those enrolled as children had evidence of aortic valve stenosis, and 43.8% had evidence of ASCVD. The median age at onset of ASCVD was 8.9 years. One child was diagnosed with ASCVD at age 2 years and underwent liver transplant at age 4 years. Another was diagnosed with the condition at age 3 years and underwent liver transplant at age 8 years. Two children underwent coronary artery bypass grafting at ages 6 years and 14 years. Five participants underwent liver transplant before age 18 years.

About 56% of participants who enrolled as children had xanthomas, or fat deposits in tendons, and none had corneal arcus — a gray-white line of fat deposits around the edge of the cornea, both of which can indicate homozygous FH in children.

Treatment reduced LDL-C substantially, but only 25% of children achieved goal levels of cholesterol, the researchers reported. Patients who received more lipid-lowering therapies had a better chance of reaching their target levels, they found.

The data raise “the possibility that only children with the most severe phenotypes are diagnosed before adulthood,” the researchers said.

Clinical diagnosis of homozygous FH can be based on LDL-C levels, family history, and the presence of xanthomas, the researchers noted. Many children do not have physical findings, however, and a lipid panel or genetic testing may be necessary.

“There is a clear need to implement universal screening” to identify all children with homozygous FH and heterozygous FH, a less severe and more common form of FH, Dr. McGowan said.
 

Possible missed cases

As many as 1 in 250 people may have heterozygous FH, and 1 in 300,000 people may have homozygous FH, according to estimates. Patients with homozygous FH have two FH genes, one from each parent. In patients with homozygous FH, levels of LDL-C levels typically range between 400 and 1,000 mg/dL without treatment, which is four to 10 times higher than normal concentrations of the blood fat, according to the Family Heart Foundation.

“This study adds to a growing body of literature – including our own work – demonstrating that recommended universal screening occurs in barely 1 in 5 children. This means some patients are not being recognized as having treatable diseases,” said Justin H. Berger, MD, PhD, a pediatric cardiologist at Children’s Hospital of Philadelphia.

Even among children who are at the highest risk for early onset adult-type heart disease, only a quarter to two-thirds receive recommended screening, said Dr. Berger, who was not a member of the study team.

While Dr. Berger advocates universal lipid screening, improving screening rates in practice probably isn’t as simple as telling clinicians to screen more, he said. “Increasing testing will increase health care spending and the burden on busy primary care providers without addressing who will subsequently evaluate and manage children with abnormal lipid screening results,” Dr. Berger said.

Instead, clinicians may want to focus on screening patients who are at risk, which “could have dramatic benefits for their life-long cardiovascular health,” he said.

Dr. McGowan disclosed ties to Abbott and Regeneron, and her coauthors disclosed ties to Esperion Therapeutics and research funding from Regeneron and REGENXBIO. Dr. Berger disclosed no relevant financial relationships.

A version of this article first appeared on Medscape.com.

A stuffed animal, aromatherapy, a night light. A kit containing these and other items can help children in foster care who have experienced trauma sleep more soundly, a critical step in helping them cope with their emotional distress. 

In a new study, researchers at the Children’s Hospital of Philadelphia reported that sleep kits specially tailored to foster children appeared to be helpful in most cases. The kits can be distributed by pediatricians in the office or clinic setting.

“Children who have experienced trauma can have issues with behavior, it can impact their school, and they have difficulties sleeping,” said Kristine Fortin, MD, MPH, director of the fostering health program at Safe Place: Center for Child Protection and Health at CHOP. “I thought, what could a pediatrician do in the office in one visit to help children with sleep?”

Dr. Fortin and colleagues designed sleep kits for both younger children and adolescents.

The version for teenagers contained a sound machine, aromatherapy spray, and a sleep mask. The kits for younger children contained matching stuffed toys to share with someone they felt connected to, and a rechargeable night-light. All kits included written materials about sleep hygiene, a journal, and directions for downloading a free age-appropriate relaxation app for belly breathing or a PTSD Coach app from the Department of Veterans Affairs to manage symptoms of trauma.

In a pilot study presented at the annual meeting of the American Academy of Pediatrics, Dr. Fortin and colleagues surveyed caregivers in foster homes about their use of the kits.

Of the 20 foster parents who responded to the survey, 11 said the kits helped “very much,” 5 others reported they helped “somewhat,” another 2 reported no improvements in sleep, and 2 said they didn’t know the effect. The children for whom results were unknown moved from the home without the sleep kit or had difficulties communicating with the foster parents, resulting in incomplete assessment, according to the researchers. 

Night-lights were used most in the kits, followed by the stuffed toys, sound machines, and sleep journals.

Dr. Fortin said existing resources like sleep therapy or medication can be costly or difficult to find, and many pediatricians don’t have enough time during wellness visits to address symptoms like sleep deprivation. She said the sleep kits could be an alternative to other forms of sleep therapy. “If these sleep kits were effective, and could really help them sleep, then maybe less children would need something like medication.”

Dr. Fortin said the kits her group has designed are tailored specifically for children with symptoms of trauma, or with difficult emotions associated with foster care.

“We’ve tried to design something that can be really practical and easy to use in a pediatric visit, where there’s a lot of written information that can be discussed with the child and their family,” Dr. Fortin said.

She added that she would like to see clinicians give out the sleep kits during in-office visits.

“These sleep issues are common in foster children,” she said. “We felt it was important to do an intervention.”

Kristina Lenker, PhD, a sleep psychologist at Penn State Health, Hershey, said children in foster care often struggle with falling or staying asleep, an inability to sleep alone, nightmares, and bed wetting.

“Sleep kits can be particularly helpful for these children, given how they can help caregivers to provide a safe sleep environment and predictable routine, and send messages of safety and comfort at bedtime, with tangible objects, and enable children to feel a sense of control,” she said.

Charitable organizations like Pajama Program and Sleeping Children Around the World provide sleep kits to children from underserved backgrounds. But Candice Alfano, PhD, director of the University of Houston’s Sleep and Anxiety Center of Houston, said the CHOP kits are the first to specifically target sleeping difficulties in foster children.

“Sleep is a largely neglected yet essential area of health, development, and well-being in this highly-vulnerable population of youth, so I am very excited to see this work being done,” Dr. Alfano said in an interview.

Dr. Fortin and Dr. Lenker reported no relevant financial relationships.

A version of this article first appeared on Medscape.com.

A stuffed animal, aromatherapy, a night light. A kit containing these and other items can help children in foster care who have experienced trauma sleep more soundly, a critical step in helping them cope with their emotional distress. 

In a new study, researchers at the Children’s Hospital of Philadelphia reported that sleep kits specially tailored to foster children appeared to be helpful in most cases. The kits can be distributed by pediatricians in the office or clinic setting.

“Children who have experienced trauma can have issues with behavior, it can impact their school, and they have difficulties sleeping,” said Kristine Fortin, MD, MPH, director of the fostering health program at Safe Place: Center for Child Protection and Health at CHOP. “I thought, what could a pediatrician do in the office in one visit to help children with sleep?”

Dr. Fortin and colleagues designed sleep kits for both younger children and adolescents.

The version for teenagers contained a sound machine, aromatherapy spray, and a sleep mask. The kits for younger children contained matching stuffed toys to share with someone they felt connected to, and a rechargeable night-light. All kits included written materials about sleep hygiene, a journal, and directions for downloading a free age-appropriate relaxation app for belly breathing or a PTSD Coach app from the Department of Veterans Affairs to manage symptoms of trauma.

In a pilot study presented at the annual meeting of the American Academy of Pediatrics, Dr. Fortin and colleagues surveyed caregivers in foster homes about their use of the kits.

Of the 20 foster parents who responded to the survey, 11 said the kits helped “very much,” 5 others reported they helped “somewhat,” another 2 reported no improvements in sleep, and 2 said they didn’t know the effect. The children for whom results were unknown moved from the home without the sleep kit or had difficulties communicating with the foster parents, resulting in incomplete assessment, according to the researchers. 

Night-lights were used most in the kits, followed by the stuffed toys, sound machines, and sleep journals.

Dr. Fortin said existing resources like sleep therapy or medication can be costly or difficult to find, and many pediatricians don’t have enough time during wellness visits to address symptoms like sleep deprivation. She said the sleep kits could be an alternative to other forms of sleep therapy. “If these sleep kits were effective, and could really help them sleep, then maybe less children would need something like medication.”

Dr. Fortin said the kits her group has designed are tailored specifically for children with symptoms of trauma, or with difficult emotions associated with foster care.

“We’ve tried to design something that can be really practical and easy to use in a pediatric visit, where there’s a lot of written information that can be discussed with the child and their family,” Dr. Fortin said.

She added that she would like to see clinicians give out the sleep kits during in-office visits.

“These sleep issues are common in foster children,” she said. “We felt it was important to do an intervention.”

Kristina Lenker, PhD, a sleep psychologist at Penn State Health, Hershey, said children in foster care often struggle with falling or staying asleep, an inability to sleep alone, nightmares, and bed wetting.

“Sleep kits can be particularly helpful for these children, given how they can help caregivers to provide a safe sleep environment and predictable routine, and send messages of safety and comfort at bedtime, with tangible objects, and enable children to feel a sense of control,” she said.

Charitable organizations like Pajama Program and Sleeping Children Around the World provide sleep kits to children from underserved backgrounds. But Candice Alfano, PhD, director of the University of Houston’s Sleep and Anxiety Center of Houston, said the CHOP kits are the first to specifically target sleeping difficulties in foster children.

“Sleep is a largely neglected yet essential area of health, development, and well-being in this highly-vulnerable population of youth, so I am very excited to see this work being done,” Dr. Alfano said in an interview.

Dr. Fortin and Dr. Lenker reported no relevant financial relationships.

A version of this article first appeared on Medscape.com.

A stuffed animal, aromatherapy, a night light. A kit containing these and other items can help children in foster care who have experienced trauma sleep more soundly, a critical step in helping them cope with their emotional distress. 

In a new study, researchers at the Children’s Hospital of Philadelphia reported that sleep kits specially tailored to foster children appeared to be helpful in most cases. The kits can be distributed by pediatricians in the office or clinic setting.

“Children who have experienced trauma can have issues with behavior, it can impact their school, and they have difficulties sleeping,” said Kristine Fortin, MD, MPH, director of the fostering health program at Safe Place: Center for Child Protection and Health at CHOP. “I thought, what could a pediatrician do in the office in one visit to help children with sleep?”

Dr. Fortin and colleagues designed sleep kits for both younger children and adolescents.

The version for teenagers contained a sound machine, aromatherapy spray, and a sleep mask. The kits for younger children contained matching stuffed toys to share with someone they felt connected to, and a rechargeable night-light. All kits included written materials about sleep hygiene, a journal, and directions for downloading a free age-appropriate relaxation app for belly breathing or a PTSD Coach app from the Department of Veterans Affairs to manage symptoms of trauma.

In a pilot study presented at the annual meeting of the American Academy of Pediatrics, Dr. Fortin and colleagues surveyed caregivers in foster homes about their use of the kits.

Of the 20 foster parents who responded to the survey, 11 said the kits helped “very much,” 5 others reported they helped “somewhat,” another 2 reported no improvements in sleep, and 2 said they didn’t know the effect. The children for whom results were unknown moved from the home without the sleep kit or had difficulties communicating with the foster parents, resulting in incomplete assessment, according to the researchers. 

Night-lights were used most in the kits, followed by the stuffed toys, sound machines, and sleep journals.

Dr. Fortin said existing resources like sleep therapy or medication can be costly or difficult to find, and many pediatricians don’t have enough time during wellness visits to address symptoms like sleep deprivation. She said the sleep kits could be an alternative to other forms of sleep therapy. “If these sleep kits were effective, and could really help them sleep, then maybe less children would need something like medication.”

Dr. Fortin said the kits her group has designed are tailored specifically for children with symptoms of trauma, or with difficult emotions associated with foster care.

“We’ve tried to design something that can be really practical and easy to use in a pediatric visit, where there’s a lot of written information that can be discussed with the child and their family,” Dr. Fortin said.

She added that she would like to see clinicians give out the sleep kits during in-office visits.

“These sleep issues are common in foster children,” she said. “We felt it was important to do an intervention.”

Kristina Lenker, PhD, a sleep psychologist at Penn State Health, Hershey, said children in foster care often struggle with falling or staying asleep, an inability to sleep alone, nightmares, and bed wetting.

“Sleep kits can be particularly helpful for these children, given how they can help caregivers to provide a safe sleep environment and predictable routine, and send messages of safety and comfort at bedtime, with tangible objects, and enable children to feel a sense of control,” she said.

Charitable organizations like Pajama Program and Sleeping Children Around the World provide sleep kits to children from underserved backgrounds. But Candice Alfano, PhD, director of the University of Houston’s Sleep and Anxiety Center of Houston, said the CHOP kits are the first to specifically target sleeping difficulties in foster children.

“Sleep is a largely neglected yet essential area of health, development, and well-being in this highly-vulnerable population of youth, so I am very excited to see this work being done,” Dr. Alfano said in an interview.

Dr. Fortin and Dr. Lenker reported no relevant financial relationships.

A version of this article first appeared on Medscape.com.