Table 6.

Recommended Surveillance for Individuals with Koolen-de Vries Syndrome

System/ConcernEvaluationFrequency
Constitutional
  • Measurement of growth parameters
  • Eval of nutritional status & safety of oral intake
At each visit
Development Monitor developmental progress & educational needs.
Neurologic
  • Monitor those w/seizures as clinically indicated.
  • Assess for new manifestations such as seizures, changes in tone.
Neurobehavioral/
Psychiatric 		Assessment for anxiety, ADHD, & ASD
Musculoskeletal Physical medicine, OT/PT assessment of mobility, self-help skills
Family/Community Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).
Integument Full skin exam in those w/lighter skin tones or skin types who are at greater risk for developing melanomaAnnually
Ophthalmologic involvement Ophthalmologic evalPer treating ophthalmologist
Low vision servicesPer treating clinicians
Hearing Audiologic evalAnnually, or as clinically indicated

ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder; OT = occupational therapy; PT = physical therapy

From: Koolen-de Vries Syndrome

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