Management of a 14-Month-Old with Suspected Down Syndrome
A 14-month-old child with suspected Down syndrome requires immediate chromosome analysis (karyotype) for diagnostic confirmation, followed by urgent cardiac evaluation with echocardiography, complete blood count for hematologic screening, and referral to a pediatric geneticist for comprehensive care coordination. 1, 2
Immediate Diagnostic Confirmation
- Chromosome analysis (karyotype) is the essential first step to confirm the diagnosis if not already completed, as approximately 95% of cases result from free trisomy 21, while 7% involve Robertsonian translocations and 2% are mosaic forms 1, 3
- The specific chromosomal abnormality must be identified because translocation cases carry different recurrence risks for future pregnancies and require parental karyotyping 1, 4
- Genetic counseling should be provided to the family to discuss the diagnosis, prognosis, and recurrence risk, particularly if there is a family history suggesting possible familial translocation 1
Critical caveat: Even if parents decline genetic testing, the clinical features alone warrant proceeding with medical screening for life-threatening conditions 1
Urgent Medical Evaluations (Within Days to Weeks)
Cardiac Assessment - Highest Priority
- Arrange immediate echocardiogram or pediatric cardiology referral, as 40% of children with Down syndrome have congenital heart disease, which represents the most critical initial evaluation 1
- Cardiac defects can be life-threatening if undetected and require urgent identification regardless of genetic testing status 1
Hematologic Screening
- Obtain complete blood count immediately to screen for transient myelodysplasia and monitor for leukemia risk, as children with Down syndrome have a 20-fold increased risk of developing leukemia compared to the general population 5, 1
- Refer to pediatric hematology/oncology for ongoing monitoring 1
Thyroid Function Testing
- Perform thyroid function studies (TSH and free T4) as part of the initial laboratory evaluation, even without classic signs of thyroid disease, due to high prevalence of thyroid disorders in this population 6, 7
- This is particularly important at 14 months, as hypothyroidism can present with constipation, irritability, and developmental delays 6
Gastrointestinal Evaluation
- Evaluate for gastrointestinal anomalies, as 5% have conditions such as duodenal atresia or Hirschsprung disease that may require surgical intervention 1
- If constipation is present and thyroid function is normal, consider colonic transit studies or evaluation for Hirschsprung disease 6
Multidisciplinary Referrals
- Pediatric geneticist for comprehensive care coordination and long-term management planning 1
- Early intervention services for developmental support and therapy services 1
- Pediatric cardiology if not already arranged for cardiac screening 1
- Pediatric hematology/oncology for leukemia surveillance 1
Documentation Requirements
- Document all clinical findings suggesting Down syndrome, including hypotonia, dysmorphic features (epicanthic folds, flat nasal bridge, protruding tongue, abundant neck skin, dysplastic ears, simian crease, gap between first and second toes) 1, 8
- Document parental acceptance or refusal of genetic testing while noting acceptance or refusal of medical screening 1
Long-Term Monitoring Plan
- Develop a comprehensive surveillance plan for neurological assessment, as adults with Down syndrome have increased risk of early-onset Alzheimer's disease 1, 7
- Schedule regular follow-up appointments with specialists based on individual needs and screening results 1
- Monitor for nutritional disorders including overweight, obesity, and vitamin deficiencies that commonly occur in Down syndrome 7
Important pitfall to avoid: Do not delay cardiac and hematologic screening while awaiting genetic test results, as the clinical presentation alone warrants immediate medical evaluation for potentially life-threatening conditions 1