AAP updates guidance on caring for children with Down syndrome
- Copyright © 2011, The American Academy of Pediatrics
A revised AAP clinical report advises physicians and parents on the optimal care of children with Down syndrome from the prenatal period to age 21.
The report, Health Supervision for Children with Down Syndrome, in the August issue of Pediatrics (2011;128:393-406; http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2011-1605), reflects contributions from 19 AAP and several outside pediatric subspecialty groups, said Marilyn J. Bull, M.D., FAAP, lead author from the AAP Committee on Genetics.
Medical management, home environment, early intervention, education and vocational training “can significantly affect the level of functioning of children and adolescents with Down syndrome and facilitate their transition to adulthood,” the report states.
Key stages of care
About one in every 700 births results in a child with Down syndrome. How the message about the diagnosis is delivered may set the stage for the life of the child. The report gives tips on what to cover in those talks.
Children with Down syndrome may grapple with problems such as congenital heart defects, hearing loss, obstructive sleep apnea, otitis media, vision problems and neurologic dysfunction. The report outlines care or guidance needed, from examinations to anticipatory guidance.
The average lifespan of people with Down syndrome has increased from 25 years in 1983 to 60 years, an increase largely due to improvements in cardiac, hematologic and endocrine care, said Dr. Bull, medical director of the Riley Hospital for Children at Indiana University’s Down Syndrome Program and chair of AAP District V.
Because some pediatricians see only a few children with Down syndrome, Dr. Bull suggested posting the link to the report in patients’ electronic health record or placing a PDF in their paper files.
At least yearly, pediatricians should discuss with parents personal support available to the family; participation in a family-centered medical home; age-specific Down syndrome-related medical and developmental conditions; financial/medical support programs; injury and abuse prevention; and nutrition and activity for appropriate weight.
Children with Down syndrome function more effectively in social situations than would be predicted. In fact, parents need to hear of the many positive outcomes of these children and their effects on the family, Dr. Bull said. “The goal is to be positive, but realistic.”
Children with Down syndrome are at increased risk of atlantoaxial instability. However, not until age 3 years will they have adequate vertebral mineralization and epiphyseal development for accurate radiographic evaluation of the cervical spine. Plain radiographs do not predict well which children are at increased risk of developing spine problems. Therefore, routine radiologic evaluation of the cervical spine in asymptomatic children no longer is recommended.
For patients with possible symptoms of atlantoaxial instability, a plain cervical radiograph in the neutral position should be obtained. If significant radiographic abnormalities are present, no further X-rays should be taken, and the patient must be referred to a pediatric orthopedic surgeon or pediatric neurosurgeon with expertise in atlantoaxial instability. Not all professionals are knowledgeable in this regard.
“Parents have brought a child ‘walking funny’ to an emergency department for evaluation,” Dr. Bull recalled. “And then the ED would X-ray the child’s hips and say nothing is wrong. But they were not aware of the importance of evaluating the cervical spine.”
Pediatricians should advise parents that participation in some sports places their child at increased risk of spinal cord injury.
Physicians also should be aware of symptoms that might indicate celiac disease. For those children, obtain a tissue transglutaminase immunoglobulin A (IgA) level and simultaneous quantitative IgA. Abnormal lab values require referral for specialty assessment. Evidence does not show routine screening of asymptomatic individuals is beneficial.
Sleep apnea also is a concern, and all patients should be referred to a pediatric sleep lab for a sleep study or polysomnogram by age 4, if possible. Those with symptoms of obstructive sleep apnea or abnormal sleep study results need to see a physician with expertise in pediatric sleep.
Sexuality is addressed in the report, which recommends that parents be educated about the increased risk of sexual exploitation and the need to use accurate terms for genitalia and other private body parts when these areas are discussed or examined. Remind children that their body is their own.
“As with any child, you should start (developmentally appropriate discussions) early — at least by age 4 years — and not wait until they are 13 to discuss appropriate behaviors,” Dr. Bull said.
With regard to the use of growth charts, pediatricians should monitor weight and follow weight-for-height or body mass index trends at each visit. Plot growth using the standard growth charts of the National Center for Health Statistics (NCHS) or the World Health Organization (WHO). The previously used Down syndrome-specific growth charts no longer reflect the current population and, until new research quality standards are developed, the NCHS or WHO charts should be used.
Parents also should understand the importance of their child’s communication skills, including the need for regular checks of hearing and vision, to maximize the ability to communicate.
“These skills are what can make a difference as they mature — getting invited to birthday parties or being hired for a job, for example,” Dr. Bull said.
Finally, the report emphasizes the critical need for additional research.