DOWN SYNDROME HEALTH CARE GUIDELINES
Based on “Health Supervision for Children with Down Syndrome” as published in Pediatrics (Vol. 128, No. 2, August 1, 2011. pp. 393 - 406.)
An electronic version can be accessed here: http://aappolicy.aappublications.org
(Search: Health Supervision for Children with Down Syndrome)
- Review parental concerns. Review chromosome analysis; genetic counseling, if not done prenatally.
- Check for signs and symptoms of gastrointestinal tract blockage (e.g., duodenal web, duodenal atresia, or Hirschsprung disease).
- Use typical growth charts from Centers for Disease Control (CDC), available at www.cdc.gov/growthcharts. Use weight/height assessment, as well.
- If constipation present, evaluate for limited diet or fluids, hypotonia, hypothyroidism, gastrointestinal malformation, or Hirschsprung disease.
- Radoiographic swallowing assessment if marked low muscle tone, slow feeding, choking with feeds, recurrent or persistent respiratory symptoms, failure to thrive. Consider feeding referral, if needed.
- Echocardiogram read by a pediatric cardiologist and referral to pediatric cardiology if abnormalities present. Subacute bacterial endocarditis prophylaxis (SBE), in susceptible children with cardiac disease. If a heart condition is identified, monitor for signs and symptoms of congenital heart failure.
- Car seat evaluation to evaluate for apnea, low heart rate, or oxygen desaturation prior to discharge from the hospital at birth if child is hypotonic or has had cardiac surgery.
- Complete blood count (CBC) to rule out transient myeloproliferative disorder (TMD) or polycythemia.
- Review feeding history to ensure adequate caloric intake. Children with Down syndrome can usually nurse, and many can breastfeed successfully. Refer infants with hypotonia, slow feeding, choking, or recurrent respiratory symptoms for radiographic swallowing assessment.
- TSH–check on results of state-mandated screening at birth. Add TSH if the state-mandated screening only included T4 .
- Newborn hearing screen – auditory brainstem response (ABR) or otoacoustic emission (OAE) – to assess for hearing loss. Discuss risk for respiratory infections.
- Discuss complementary and alternative therapies.
- Discuss cervical spine positions, especially for anesthesia, surgical or radiologic procedures. Review signs and symptoms of myelopathy. If myelopathic signs exist, obtain neck X-rays (C-spine).
- Eye exam for cataracts.
- Discuss value of Early Intervention (infant stimulation) and refer for enrollment in local program.
- Referral to local Down syndrome parent group or family support and resources, as indicated. Referral to NDSS.