Tuesday, 20 December 2011 23:34

Down Syndrome Infant Health Care Guidelines

(Based on “Health Supervision for Children with Down Syndrome” as published in Pediatrics August 2011) Infant (1 - 12 Months)
  • Chromosomal karyotype; genetic counselling, if not already done.
  • Discuss chances of having another child with Down syndrome.
  • Use growth charts for Down syndrome.
  • Radiographic swallowing assessment if marked low muscle tone, slow feeding, choking with feeds, recurrent or persistent respiratory symptoms, failure to thrive. Consider feeding therapy referral, if needed.
  • At 1 year of age begin to check hemoglobin count annually. Include (a) ferritin and CRP or (b) reticulocyte hemoglobin if there is a concern for a diet low in iron or if hemoglobin < 11g.
  • Eye exam for cataracts. Ophthalmology referral to assess for strabismus, nystagmus and cataracts.
  • Delayed or irregular dental eruption, hypodontia is common. First dental visit by 1 year.
  • If constipation present, evaluate for limited diet or fluids, hypotonia, hypothyroidism, gastrointestinal malformation, or Hirschsprung disease.
  • Discuss cervical spine positions, especially for anesthesia or surgical or radiologic procedures.
  • Review signs and symptoms of myopathy. If myopathy signs exists, obtain neck X-rays (C- spine).
  • Thyroid function tests at 6 and 12 months (FT4 and TSH).
  • If a heart condition is identified, monitor for signs and symptoms of congenital heart failure.
  • Well child care: immunizations including influenza.
  • Newborn hearing screen follow-up and assessment by 3 months. Audiology evaluation at 6 months and every 6 months until “ear specific testing is accomplished and normal,” at which point hearing screens can be done on an annual basis.
  • Review signs and symptoms for obstructive sleep apnea.
  • Discuss Early Intervention, including speech therapy, and refer for enrolment in local program, if not done already.
  • Apply for Supplemental Security Income (SSI), depending on family income.
  • Consider estate planning and custody arrangements; continue family support.
  • Discuss complementary and alternative therapies.
  • Referral to Down syndrome parent group or family support and resources. Local referral to the Down Syndrome Aim High Resource Center.