DOWN SYNDROME HEALTH CARE GUIDELINES
Based on “Health Supervision for Children with Down Syndrome” published in Pediatrics (Vol. 128, No. 2, August 1, 2011. pp. 393 - 406.)
- Review chromosome analysis; genetic counseling, if not already done.
- Discuss chances of having another child with Down syndrome, if not already done.
- If constipation present, evaluate for limited diet or fluids, hypotonia, hypothyroidism, gastrointestinal malformation, or Hirschsprung disease.
- Hemoglobin count annually. Include (a) ferritin and CRP or (b) reticulocyte hemoglobin if there is a concern for a diet low in iron
- Thyroid function tests annually (TSH).
- Review signs and symptoms of myelopathy. If myelopathic signs exist, obtain radiograph of C-spine. Contact physician if change in gait, change in the use of arms or hands, change in bladder function, neck pain, head tilt, torticollis, or new-onset weakness. (Note: Some athletic organizations might require a radiograph of C-spine for entry and participation.)
- Trampoline use should be avoided in all children with or without Down syndrome under age six and only under professional supervision over age six.
- Hearing exam every six months until normal bilateral ear-specific test. At that point, hearing exams should be done annually.
- Refer to Ears-Nose-Throat specialist for any abnormal hearing exam.
- Review signs and symptoms for obstructive sleep apnea. Sleep study for everyone by the age of four regardless of presence or absence of symptoms.
- Referral to pediatric ophthalmologist or ophthalmologist with expertise in Down syndrome annually.
- If a heart condition is identified, monitor for signs and symptoms of congestive heart failure, subacute bacterial endocarditis prophylaxis (SBE), as indicated.
- Use typical growth charts from Centers for Disease Control (CDC), available at www.cdc.gov/growthcharts. Use body-mass index (BMI) or weight/height measurements to assess weight proportionality.
- For a child on gluten containing diet, review for symptoms of celiac disease and obtain quantitative IgA and TTG-IgA.
- Delayed or irregular dental eruption, hypodontia is common.
- Establish optimal dietary and physical exercise patterns.
- Encourage and model use of accurate terms for genitalia and other body parts any times these parts are discussed or examined. Remind person with Down syndrome that the only reason that anyone should be looking at or touching private body parts is for health (doctor office visits) or hygiene (bathing or showering).
- Well child care: immunizations; If chronic cardiac or pulmonary disease, give 23-valent pneumococcal vaccine age > two years.
- Review behavior and social progress, with particular attention to signs and symptoms of ADHD, autism, and other psychiatric/behavioral problems
- Early Intervention: speech therapy, physical therapy, occupational therapy. Discuss complementary and alternative therapies.
- Referral to local Down syndrome parent group or family support and resources, as indicated. Referral to NDSS.