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Neonatal (Birth to 2 Months)
History: Review parental concerns. Was there a prenatal diagnosis of DS? With vomiting or absence of stools, check for gastrointestinal tract blockage (duodenal web or atresia, or Hirschsprung disease); review feeding history to ensure adequate caloric intake; any concerns about hearing or vision? Inquire about family support. Exam: Pay special attention to cardiac examination; cataracts (refer immediately to an ophthalmologist if the red reflex is not seen); otitis media; subjective assessment of hearing; and fontanelles (widely open posterior fontanelle may signify hypothyroidism). Exam for plethora, thrombocytopenia. Lab and Consults: Chromosomal karyotype; genetic counseling; hematocrit or complete blood count to investigate plethora (polycythemia) or thrombo-cytopenia (possible myeloproliferative disorders); thyroid function test-check on results of state-mandated screening; evaluation by a pediatric cardiologist including echocardiogram (even in the absence of a murmur); reinforce the need for subacute bacterial endocarditis (SBE) prophylaxis in susceptible children with cardiac disease; refer for auditory brainstem response (ABR) or otoacoustic emission (OAE) test to assess congenital sensorineural hearing at birth or by 3 months of age. Refer for a pediatric ophthalmological evaluation by six months of age for screening purposes. Refer immediately if there are any indications of nystagmus, strabismus or poor vision. If feeding difficulties are noted, consultation with feeding specialist (occupational therapist or lactation nurse) is advised. Developmental: Discuss value of Early Intervention (infant stimulation) and refer for enrollment in local program. Parents at this stage often ask for predictions of their child's abilities: "Can you tell how severe it is?" This is an opportunity to discuss the unfolding nature of their childŐs development, the importance of developmental programming, and our expectation of being able to answer that question closer to two years of age. Recommendations: Referral to local DS parent group for family support, as indicated.
Introduction Neonatal - Birth to Two Months Infancy - Two Months to Twelve Months Childhood - One Year to Twelve Years Adolescence - Twelve Years to Eighteen Years Adults - Over Eighteen Years Elaboration of Recommendations Alternative and Controversial Therapies Bibliography Reprint Information |