Table 12.

Recommended Surveillance for Individuals with Subacute Juvenile Sandhoff Disease

System/ConcernEvaluationFrequency
Neurologic decline Neurology eval for tone, cognition, seizure onset/controlAnnually or as needed for seizures
Development Developmental/educational needsAnnually
Speech-language
development / Dysarthria 		By speech-language pathologistPer treating clinician
Musculoskeletal
system
  • OT/PT assessment of ADL; need for splinting for contractures/scoliosis
  • Durable medical equipment for mobility
At each visit
Nutrition/Feeding By feeding team re aspiration risk / nutrition needs
Visual acuity
  • Ophthalmologic exam
  • Assess need for low vision services.
Annually
Respiratory Assess need for airway hygiene.At each visit
Family support
& resources 		Assess need for:
  • Social work involvement for parental support;
  • Palliative care referral;
  • Home nursing referral.
As needed

ADL = activities of daily living; OT = occupational therapy; PT = physical therapy

From: Sandhoff Disease

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