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Infancy (2 to 12 Months)
History: Review parental concerns. Question about respiratory infections (especially otitis media); for constipation, use aggressive dietary management and consider Hirschsprung disease if resistant to dietary changes and stool softeners. Solicit parental concerns regarding vision and hearing.
Exam: General neurological, neuromotor, and musculoskeletal examination; must visualize tympanic membranes or refer to ear, nose and throat (ENT) specialist, especially if suspicious of otitis media.
Lab and Consults: Evaluation by a pediatric cardiologist including echocardiogram (if not done in newborn period): remember to consider progressive pulmonary hypertension in DS patients with a VSD or atrioventricular septal defect who are having little or no symptoms of heart failure in this age group. Auditory brainstem response test (ABR) by 3 months of age if not performed previously or if previous results are suspicious. Pediatric ophthalmology evaluation by six months of age (earlier if nystagmus, strabismus or indications of poor vision are present). Thyroid function test (TSH and T4), at 6 and 12 months of age. Evaluation by ENT specialist for recurrent otitis media as needed.
Developmental: Discuss early intervention and refer for enrollment in local program (if not done during the neonatal period). This usually includes physical and occupational therapy evaluations and a developmental assessment.
Recommendations: Application for Supplemental Security Income (SSI) (depending on family income); consider estate planning and custody arrangements; continue family support; continue SBE prophylaxis for children with cardiac defects.
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