Table 6.

Recommended Evaluations Following Initial Diagnosis in Individuals with Subacute Juvenile Sandhoff Disease

System/ConcernEvaluationComment
Neurologic Neurology eval
  • To incl brain MRI
  • Consider EEG if seizures are a concern.
  • Evaluate for spasticity.
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech-language eval
  • Eval for IEP
Speech-language
development /
Dysarthria 		Speech-language evalBy speech-language pathologist
Musculoskeletal
system 		Physical medicine & rehab / PT & OT evalTo incl assessment of:
  • Gross motor & fine motor skills
  • Mobility, independence in ADL, & need for adaptive devices
  • Need for PT (to prevent fixed deformities)
Gastrointestinal/
Feeding 		Gastroenterology / nutrition / feeding team eval
  • To incl swallow study for eval of aspiration risk & nutritional status
  • Consider eval for gastrostomy tube placement in those w/dysphagia &/or aspiration risk.
  • Assess for constipation.
Eyes Ophthalmologic examAssess visual acuity.
Respiratory Eval for aspiration riskAssess need for airway hygiene & percussion vest.
Genetic
counseling 		By genetics professionals 1To inform affected persons & families re nature, MOI, & implications of this disorder to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

ADL = activities of daily living; EEG = electroencephalogram; IEP = individualized education program; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, or certified advanced genetic nurse

From: Sandhoff Disease

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