Monitoring
The Down Syndrome Medical Interest Group and the Committee on Genetics of the American Academy of Pediatrics (AAP) has developed health supervision guidelines for managing the care of children and adolescents with DS.[17] Children with DS should receive the same preventive health care as any child, with additional monitoring as indicated. For example, those with DS have a higher frequency of congenital and acquired medical conditions, including audiologic, vision, gastrointestinal, hematologic, and thyroid issues. Physicians should also continue to monitor the child's developmental, educational, behavioral, and social functioning. For developmental milestones use age-based norms for children and adolescents with DS.[25]
AAP recommendations include:[17]
Weight, length, weight-for-length, head circumference, and BMI should be measured at each well-child visit throughout childhood and adolescence. US Centers for Disease Control and Prevention DS-specific charts should be used for all measures except BMI, for which standard charts should be used after the age of 10 years.
Hearing evaluations should be repeated at 6 months, 12 months, and yearly thereafter. Referral to a pediatric otolaryngologist is recommended if the tympanic membrane is not visualized and/or otitis media recurs frequently. In general, placement of myringotomy tubes is considered if there are >4 ear infections in 6 months, >6 ear infections in 1 year, or persistent middle ear fluid for 3 consecutive months.[33] Additionally, as children with DS are prone to chronic ear disease, it will be important to assess the need for multiple sets of myringotomy tubes. Interval ear examinations (i.e., every 3-6 months) may be needed by an otolaryngologist until tympanic membrane can be visualized by the pediatrician and the tympanometry can be performed reliably.
If the newborn screen is normal, a follow-up for thyroid function with thyroid-stimulating hormone measurement is recommended at 6 months, 12 months, and then yearly throughout childhood and adolescence. More frequent thyroid tests (i.e., every 6 months) are indicated if antithyroid antibodies are detected at any point.
Children with DS should have an ophthalmic evaluation with photoscreening at each well-child visit. Abnormal findings or lack of access to photoscreening should prompt referral to a pediatric ophthalmologist. If lacrimal duct obstruction is present, refer for evaluation for surgical repair of the drainage system if not resolved by 9-12 months of age.
To assess for anemia, complete blood count with differential and either a combination of ferritin and C-reactive protein or a combination of serum iron and total iron binding capacity should be performed yearly from the age of 1 year. Beyond anemia, low ferritin is also associated with sleep issues such as restless legs syndrome. Iron supplementation may be considered for children with sleep issues and a ferritin concentration <50 micrograms/L.
Children with heart defects should be monitored at each healthcare visit for signs of heart failure (e.g., tachypnea, feeding difficulties, poor weight gain).
Dental exams should be done at 2 years of age and continued every 6 months.
Celiac disease, caused by an intolerance to gluten, a protein in wheat, rye, barley, and possibly oats, damages the small intestine and prevents absorption of nutrients from food. Screening for total immunoglobulin A and anti-tissue transglutaminase antibodies is recommended if symptoms occur (e.g., abdominal pain or bloating, diarrhea, faltering growth, chronic constipation, anemia, or developmental or behavioral problems).
Because the incidence of obstructive sleep apnea syndrome is high in young children with DS, and studies have shown poor correlation between parental impressions of sleep problems and overnight polysomnography results, baseline polysomnography is suggested in all children with DS between 3 and 4 years of age, or earlier if symptoms occur. Primary care physicians are also encouraged to discuss symptoms of sleep problems at every well-child care visit.[70]
Individuals with DS have a tendency to be overweight, which can increase their likelihood for hypertension, diabetes mellitus, hypercholesterolemia, sleep apnea, and other health complications. For these reasons, it is important to encourage daily exercise and a balanced diet.
In terms of atlantoaxial instability, symptoms of myelopathy should be sought, including neck pain/stiffness, changes in head positioning or torticollis, spasticity or change in tone, radiculopathy, changes to gait, or hyperreflexia. Cervical spine x-ray is indicated only if signs or symptoms of instability are present. A careful history and physical exam is important at all well-child visits and health maintenance exams.
Children with DS should be screened for autism spectrum disorder (ASD) between 18 and 24 months of age. If there is suspicion of ASD, early referral to a specialist is imperative.
Skin disorders such as xerosis, hair thinning, alopecia areata, vitiligo, folliculitis, and keratosis pilaris are common in children with DS, and parents and pediatricians should be attentive to signs and symptoms. Xerosis and hair thinning could be a sign of hypothyroidism and may warrant an interim thyroid function test.
Neurologic dysfunction is present in up to 13% of individuals with DS. Enquire about the occurrence of signs and symptoms such as seizures and shuddering, and perform a neurologic exam at each well-child visit.
There are no known measures that can be taken to prevent leukemia. Because it is known that children with DS are at risk for leukemia, parents and pediatricians should be aware of and watch for warning signs and symptoms.
Children with DS are not at increased risk of solid tumors with the exception of testicular cancer.[80] For this reason, the testes should be palpated in males at each well-child visit to check for lumps or swelling. Testicular self exams should be taught to adolescents and adults with Down syndrome or to their trusted caregivers.
Once a child with DS enters school, a comprehensive psychoeducational evaluation (e.g., cognitive, adaptive, achievement) is recommended to determine the child's strengths and challenges, and provide appropriate educational resources and therapies to support the child's development. Children with DS have global developmental delay and need ongoing developmental assessment (e.g., physical, occupation, language, social) to determine their challenges and strengths.
All children with DS should be monitored using Down syndrome specific growth charts.[81]
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