One in every 800 live births is a baby with Down syndrome, and families depend on support and care from their obstetric and pediatric providers.
An updated AAP clinical report reflects the rapid advances in knowledge and aims to assist pediatricians in caring for children with Down syndrome and their families from a prenatal diagnosis to early adulthood.
The report Health Supervision for Children and Adolescents with Down Syndrome, from the Council on Genetics, is available at https://doi.org/10.1542/peds.2022-057010 and will be published in the May issue of Pediatrics.
Prenatal, newborn periods
Advances in prenatal screening have allowed many families to learn early in pregnancy that their baby has a high chance of having Down syndrome. The report explains the status of prenatal screening, diagnosis and opportunities for prenatal evaluation of the fetus and presents the potential benefits for both the baby and mother.
Postnatal genetic testing is reviewed so the clinician can order correct genetic studies when necessary to confirm the diagnosis and facilitate genetic counseling.
Families long remember how the diagnosis is presented, and it is critical for all families to hear “congratulations” upon the birth of their child. The clinical report offers direction on how clinicians can provide accurate, current and realistic information about Down syndrome and share literature and community-based resources with families. A list of family resources is provided in the report.
Among the evaluations in the newborn is a complete blood cell count (CBC) with differential by 3 days of age to evaluate for transient abnormal myelopoiesis (TAM). Infants with TAM are at increased risk of acute myeloid leukemia and should be evaluated by pediatric hematology/oncology.
In some states, thyroid-stimulating hormone (TSH) concentration is not part of newborn screening. Therefore, if newborn screening includes only a free thyroxine (T4), it is important to obtain TSH concentration. Clinicians should repeat the measurement of TSH at 6 months, 12 months and annually. Additionally, any abnormal studies should be discussed with a pediatric endocrinologist. If antithyroid antibodies are present, TSH should be obtained every six months.
An echocardiogram should be ordered for newborns. Babies with cardiac defects or pulmonary hypertension should be referred to pediatric cardiology.
Infancy, early childhood
Early recognition and diagnosis of co-occurring behavioral conditions, including autism spectrum disorder, attention-deficit/hyperactivity disorder and other psychiatric problems, is encouraged.
Between 7% and 19% of children with Down syndrome have a dual diagnosis of autism and benefit from early referral and treatment. Pediatricians should screen all children with Down syndrome for autism between 18 and 24 months of age and avoid assuming that symptoms of autism are known delays in Down syndrome, referred to as overshadowing.
Anemia and iron deficiency are discussed in depth. A CBC with differential and either a ferritin and C-reactive protein or serum iron and total iron binding capacity beginning at 1 year of age and annually thereafter are recommended.
Sleep problems are common in children with Down syndrome, and iron store deficiency may be considered in the differential. Prescribing iron supplementation for ferritin levels less than 50 μg/L may be considered to help sleep.
The report details the proper use of Down syndrome-specific growth charts and provides enhanced guidance regarding dermatologic conditions.
- Evaluate for feeding difficulty and aspiration, which can be silent.
- Perform a neurologic exam and inform parents of signs and symptoms of atlantoaxial insufficiency. Routine radiographs of the cervical spine are not indicated.
- Assess vision and hearing in the first 6 months of life and throughout the lifespan to ensure optimal cognitive development. Details are included in the new guidance.
- Sleep-disordered breathing is common, and a sleep study is recommended any time there are symptoms. Since parent reports are poorly correlated with polysomnogram results, a sleep study should be obtained for all children between 3 and 4 years of age.
- Children with Down syndrome have an increased incidence of seizures. Perform a neurologic exam and be aware of acute regression and catatonia in late childhood, adolescence or early adulthood. Refer to specialists for treatment.
- Monitor for symptoms of celiac disease.
- Discuss the use of supplements and complementary or alternative treatments.
With marked advancements and more research underway, quality of life for people with Down syndrome continues to improve. The report provides guidance for pediatricians to assist families through transitions in childhood and adolescence so children can meet their maximum potential and participate happily in society as adults.
Dr. Bull is a lead author of the clinical report.
The report at https://doi.org/10.1542/peds.2022-057010 includes an appendix with age-specific interventions.