Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with VLDLR Cerebellar Hypoplasia

System/ConcernEvaluationComment
Neurologic Neurologic eval
  • Brain MRI
  • Consider EEG if seizures are a concern.
Developmental Developmental assessmentAdaptive, cognitive, & speech-language eval
Musculoskeletal Orthopedics / physical medicine & rehab / PT & OT evalTo incl assessment of:
  • Mobility, activities of daily living, & need for adaptive devices;
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills);
Eyes Ophthalmologic evalTo assess for strabismus
Miscellaneous/
Other 		Consultation w/clinical geneticist &/or genetic counselorTo incl genetic counseling & reproductive options
Family support/resources
  • School support
  • Community support

OT = occupational therapy; PT = physical therapy

From: VLDLR Cerebellar Hypoplasia

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