Table 6.

Recommended Surveillance for Individuals with CTNNB1 Neurodevelopmental Disorder

System/ConcernEvaluationFrequency
Feeding
  • Measurement of growth parameters
  • Eval of nutritional status & safety of oral intake
At each visit
Neurologic Monitor those w/spasticity &/or mvmt disorder as clinically indicated.
Assess for new manifestations (e.g., changes in tone, mvmt disorders).
Development Monitor developmental progress & educational needs.
Psychiatric/Behavioral Behavioral assessment for anxiety, attention, & aggressive or self-injurious behavior
Musculoskeletal Physical medicine, OT/PT assessment of mobility, self-help skills
Ophthal-
mologic 		Exudative
vitreoretinopathy 		For progression of retinal findingsPer treating retina specialist
Low vision For changes in visionPer low vision clinic
Refractive errors
& strabismus 		For changes in refractive error & strabismusPer treating ophthalmologist
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).At each visit

OT = occupational therapy; PT = physical therapy

From: CTNNB1 Neurodevelopmental Disorder

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