Table 7.

Recommended Surveillance for Individuals with Cornelia de Lange Syndrome

System/ConcernEvaluationFrequency
Feeding
  • Measure growth parameters.
  • Evaluate nutritional status & safety of oral intake.
At each visit
Gastrointestinal Monitor for signs & symptoms of GERD.
Respiratory Monitor for evidence of aspiration, respiratory insufficiency.
Neurologic Monitor those w/seizures as clinically indicated.
Assess for new manifestations such as seizures or signs of autonomic dysfunction.
Development Monitor developmental progress & educational needs.
Behavioral Behavioral assessment for anxiety, attention, & aggressive or self-injurious behavior
Musculoskeletal Physical medicine, OT/PT assessment of mobility, self-help skills
Miscellaneous/
Other
Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.
Eyes Ophthalmologic evalAt least annually
Dental Dental eval & cleaning
Hearing Audiology evalAt least annually in childhood & adolescence

GERD = gastroesophageal reflux disease; OT = occupational therapy; PT = physical therapy

From: Cornelia de Lange Syndrome

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