What are the recommended checks and screenings for well-child visits in children with Down syndrome?

Recommended Checks and Screenings for Well-Child Visits in Children with Down Syndrome

Children with Down syndrome require comprehensive and specialized screening at well-child visits beyond standard pediatric care to monitor for common comorbidities and developmental issues specific to this population. These children should be considered high-risk for developmental disorders and require more intensive monitoring and earlier intervention.

Core Screenings for All Well-Child Visits

• Growth parameters: Plot on Down syndrome-specific growth charts
• Developmental surveillance: Assess motor, language, social, and adaptive skills at each visit
• Behavioral screening: Use age-appropriate screening tools to identify common behavioral issues
• Thyroid function tests: Higher adherence to thyroid screening (61%) has been reported when performed by pediatricians 1
• Complete blood count: To monitor for leukemia and other hematologic abnormalities (55% adherence reported) 1

Age-Specific Screenings

Infancy (Birth to 12 months)

• Cardiac evaluation: Echocardiogram for all infants with Down syndrome
• Hearing screening: Newborn hearing test and follow-up at 6 months
• Vision assessment: Red reflex examination, external inspection of eyes, and ocular motility assessment 2
• Cervical spine radiographs: To assess for atlantoaxial instability (94% adherence reported) 1
• Developmental screening: At 9-month visit, assess if infant can roll to both sides, sit without support, and demonstrate motor symmetry 2

Early Childhood (1-3 years)

• Vision screening: Complete ophthalmologic examination by 12 months
• Hearing evaluation: Audiologic assessment every 6 months until age 3
• Thyroid function tests: Annual TSH and free T4
• Sleep study: By age 4 or sooner if symptoms of sleep apnea present
• Developmental screening: At 18-month visit, verify if toddler sits, stands, walks independently, and manipulates small objects 2
• Autism-specific screening: At 18 and 24 months as recommended by AAP 2

Middle Childhood (4-10 years)

• Vision assessment: Annual ophthalmologic examination
• Hearing evaluation: Annual audiologic assessment
• Thyroid function tests: Annual TSH and free T4
• Celiac disease screening: Consider testing if symptoms present
• Developmental assessment: At 48-month visit, assess fine motor, handwriting, gross motor, communication, and feeding abilities 2
• Behavioral screening: Use Pediatric Symptom Checklist or Strengths and Difficulties Questionnaire 2

Adolescence (11-21 years)

• Thyroid function tests: Continue annual screening
• Cervical spine assessment: Before participation in sports
• Hearing and vision: Continue annual evaluations
• Sexual development: Provide appropriate anticipatory guidance
• Psychosocial adjustment: Screen for mental health concerns using multiple informants including adolescents themselves, parents, and teachers 2

Special Considerations

Developmental Evaluation

Children with Down syndrome should be considered high-risk for developmental disorders and require:

• Direct referral for formal developmental evaluation at key ages: 12-24 months, 3-5 years, and 11-12 years 2
• Early intervention services before confirmation of specific developmental disorders 2
• Multidisciplinary team approach for comprehensive evaluation 2

Common Pitfalls to Avoid

1. Inadequate screening frequency: Studies show adherence to recommended screenings is suboptimal, particularly for audiology (33%) and ophthalmology (43%) 1
2. Missing atlantoaxial instability guidance: Anticipatory guidance regarding atlantoaxial instability has low adherence (<35%) 3
3. Overlooking behavioral/mental health: Children with intellectual disability have psychiatric disorders at least three times more often than typically developing children 2
4. Age-related decline in adherence: Overall adherence to guidelines is higher when a child is younger 3
5. Provider variation: Adherence is higher when care is provided by attending-level pediatricians versus other providers 3

By implementing these comprehensive screenings at well-child visits, healthcare providers can significantly improve early detection of common comorbidities and developmental issues in children with Down syndrome, leading to better health outcomes and quality of life.