Evaluation and Management of a Child with Suspected Down Syndrome
A child with suspected Down syndrome requires immediate chromosomal analysis (karyotype) to confirm the diagnosis, followed by urgent referral to pediatric cardiology for echocardiogram and comprehensive multidisciplinary evaluation including genetics, hematology, and early intervention services. 1, 2
Immediate Diagnostic Confirmation
Obtain chromosomal analysis (karyotype) immediately if not already completed prenatally, as this is essential to confirm trisomy 21 and identify the specific chromosomal pattern (standard trisomy 21, translocation, or mosaicism), which affects recurrence risk counseling 3, 1, 2
Refer to pediatric genetics for diagnostic confirmation and comprehensive care coordination, particularly if translocation is identified, as this significantly impacts family recurrence risk 1, 3
Provide genetic counseling to discuss the diagnosis, natural history, recurrence risk, and available family support resources 1, 2
Critical Initial Medical Evaluations
Cardiac Assessment (Highest Priority)
Perform echocardiogram and EKG immediately, as approximately 40-50% of children with Down syndrome have congenital heart disease, which significantly impacts morbidity and mortality if undetected 3, 1
Cardiac lesions in Down syndrome include atrioventricular septal defects, ventricular septal defects, and other structural anomalies requiring early surgical intervention 3
Hematologic Screening
Obtain complete blood count (CBC) with differential at diagnosis to screen for transient myelodysplasia of the newborn, which is highly specific for Down syndrome 1, 4, 5
Refer to pediatric hematology/oncology for monitoring, as children with Down syndrome have a 20-fold increased risk of developing leukemia compared to the general population 1, 4
Gastrointestinal Evaluation
Assess for gastrointestinal anomalies, particularly duodenal atresia and Hirschsprung disease, which occur in approximately 5% of cases and can present with feeding difficulties or failure to pass meconium 4, 5
Evaluate feeding and swallowing function, as feeding difficulties are common and may require specialized intervention 5
Comprehensive Multidisciplinary Referrals
Sensory Assessments
Perform audiologic evaluation with audiogram and tympanometry, as children with Down syndrome have high rates of hearing loss and recurrent otitis media that significantly impact speech and language development 6, 5
Obtain ophthalmologic evaluation for refractive errors, strabismus, congenital cataracts, and other ocular abnormalities 3, 6, 5
Endocrine Screening
- Measure thyroid function (TSH and free T4) at diagnosis, as thyroid disease is significantly more common in Down syndrome 3, 5
Developmental and Early Intervention Services
Refer immediately to early intervention services (Part C for children under 3 years) for motor, speech, and occupational therapy, as early intervention significantly improves developmental outcomes 1, 2, 5
Perform neurologic and developmental assessment including evaluation of motor milestones, as children with Down syndrome have characteristic motor delays and hypotonia 3, 2
Ongoing Health Supervision
Regular Monitoring Schedule
Establish annual follow-up for thyroid function, hearing assessment, vision screening, and developmental progress 2, 7
Monitor growth using Down syndrome-specific growth charts rather than standard pediatric charts 2, 7
Ensure complete immunization schedule is followed closely, as children with Down syndrome are more prone to respiratory infections 5
Long-term Considerations
Screen for celiac disease, as it occurs with increased frequency and can significantly impact development if undiagnosed 6
Monitor for atlantoaxial instability with cervical spine radiography around age 3-4 years before participation in contact sports 2, 7
Establish dental care early, as dental problems and periodontal disease are common 5
Plan for long-term neurological monitoring, as adults with Down syndrome have significantly increased risk of early-onset Alzheimer's disease 1, 4
Critical Pitfalls to Avoid
Do not attribute all developmental delays solely to Down syndrome—actively investigate and treat reversible medical conditions such as hearing loss, cardiac disease, celiac disease, and thyroid dysfunction that significantly impact developmental outcomes 6
Do not delay cardiac evaluation, as undiagnosed congenital heart disease is a major cause of preventable morbidity and mortality 3, 1
Do not overlook transient myelodysplasia or assume abnormal blood counts are "just part of the syndrome"—these require hematology consultation 1, 4