Table 6.

Recommended Surveillance for Individuals with Squalene Synthase Deficiency

System/ConcernEvaluationFrequency
Neurologic Monitor those w/seizures as clinically indicated.At each visit
Assess for new manifestations incl seizures, changes in tone, movement disorders.
Development Monitor developmental progress & educational needs.
Psychiatric/
Behavioral 		Behavioral assessment for anxiety, attention, & aggressive or self-injurious behavior
Eyes Ophthalmology evaluation w/vision assessmentAnnually or as clinically indicated
Respiratory Assess for evidence of:
  • Aspiration or respiratory insufficiency;
  • Sleep disorder.
At each visit
Feeding
  • Measurement of growth parameters
  • Evaluation of nutritional status & safety of oral intake
Gastrointestinal Monitor for constipation.
Musculoskeletal Assess need for physical medicine, OT/PT, self-help skills assistance.
Miscellaneous/
Other 		Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.

OT = occupational therapy; PT = physical therapy

From: Squalene Synthase Deficiency

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