Neonatal (Birth - 1 Month)

• Review parental concerns. Chromosomal karyotype; genetic counselling, if not done prenatally.
• Check for signs and symptoms of gastrointestinal tract blockage (e.g., duodenal web, duodenal atresia, or Hirschsprung disease).
• Use growth charts for Down syndrome.
• If constipation present, evaluate for limited diet or fluids, hypotonia, hypothyroidism, gastrointestinal malformation, or Hirschsprung disease.
• Radiographic 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.
• Referral to Pediatric Cardiology including an Echocardiogram. 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. Consider lactation consultation.
• Thyroid function tests – check on results of state-mandated screening at birth. Add TSH is the state-mandated screening only included T4 results.
• 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 anaesthesia or surgical or radiologic procedures.
• Review signs and symptoms of myopathy. If myopathy signs exists, obtain neck X-rays (C- spine).
• Eye exam for cataracts.
• Discuss value of Early Intervention (infant stimulation) and refer for enrolment in local program.
• Referral to Down syndrome parent group or family support and resources. Local referral to the Centre du syndrome de Down .

(Based on “Health Supervision for Children with Down Syndrome” as published in Pediatrics August 2011)