What annual investigations are recommended for a child with Down syndrome?

Annual Investigations for Children with Down Syndrome

Children with Down syndrome should undergo annual thyroid function tests (TSH, free T4), complete blood count, and hearing evaluation, along with specific age-appropriate screenings for common comorbidities to optimize health outcomes and quality of life.

General Annual Assessments

• Comprehensive history and physical examination with special attention to:
  • Growth parameters (height, weight, BMI) plotted on Down syndrome-specific growth charts
  • Blood pressure measurement (values may be lower than typical children)
  • Oxygen saturation measurement (track over time)
  • Neurological examination and developmental assessment
  • Assessment of school performance and learning needs

Laboratory Investigations (Annual)

• Thyroid function tests (TSH, free T4)

  • Critical due to 28-30% prevalence of thyroid dysfunction in Down syndrome 1, 2, 3
  • Consider more frequent monitoring (every 3 months) for those with compensated hypothyroidism 2
  • Recent evidence suggests additional thyroid screening at 1 and 3 months of age in infants 4

• Complete blood count with differential

  • To monitor for hematologic abnormalities including leukemia risk 5

Sensory Evaluations (Annual)

• Hearing assessment with audiogram +/- tympanometry 5

  • Essential due to high prevalence of conductive and sensorineural hearing loss

• Vision screening

  • For refractive errors, strabismus, and other ophthalmologic issues

Age-Specific Investigations

Infants and Toddlers (0-3 years)

• Cardiac evaluation at diagnosis (echocardiogram, EKG)
• Cervical spine radiography at age ~4 years to exclude atlantoaxial instability

School-Age Children (4-12 years)

• Sleep evaluation with consideration of polysomnography if symptoms of sleep apnea present
• Formal cognitive/developmental assessment with standardized measures
• Assessment of adaptive functioning (daily living skills)

Adolescents (13-18 years)

• Thyroid function tests (continue annually)
• Complete blood count (continue annually)
• Psychiatric assessment for anxiety, ADHD, and early signs of depression
• Screening for celiac disease if symptoms present

System-Specific Monitoring

Cardiac

• Periodic EKG screening in at-risk patients (those on antiepileptic/neuropsychiatric medications, with hypocalcemia, or thyroid disease)

Gastrointestinal

• Nutritional assessment including feeding, swallowing, GERD, constipation
• Annual screening for celiac disease if symptomatic

Neurological/Developmental

• Assessment of cognitive/learning capacities including language domains
• Psychiatric assessment for autism spectrum disorder, ADHD, anxiety, and psychotic disorders

Important Considerations

• The prevalence of congenital hypothyroidism in Down syndrome is approximately 1:141, about 28 times higher than in the general population 1
• Early detection of thyroid dysfunction is critical as it can worsen cognitive development and growth 1
• Thyroid dysfunction may present with subtle symptoms that can be masked by features of Down syndrome 3
• Current evidence suggests that thyroid screening at birth, 6 months, and 12 months (as per AAP guidelines) may miss nearly 20% of thyroid disorders in the first year 4

Common Pitfalls to Avoid

1. Overlooking subtle thyroid dysfunction - Symptoms may be attributed to Down syndrome itself
2. Delaying thyroid screening - Consider more frequent monitoring in the first year of life
3. Missing developmental regression - May indicate new medical issues requiring investigation
4. Focusing only on medical issues - Educational and developmental supports are equally important
5. Inadequate hearing assessment - Can significantly impact language development and learning

By following these comprehensive annual investigations, healthcare providers can optimize health outcomes and quality of life for children with Down syndrome through early detection and management of common comorbidities.