Table 6.

Recommended Surveillance for Individuals with Free Sialic Acid Storage Disorders

System/ConcernEvaluationFrequency
Feeding
  • Measurement of growth parameters
  • Eval of nutritional status & safety of oral intake
At each visit
Respiratory Monitor for evidence of aspiration, respiratory insufficiency.
Neurologic
  • Monitor those w/seizures as clinically indicated.
  • Assess for new manifestations (e.g., seizures, changes in tone, mvmt disorders).
Development Monitor developmental progress & educational needs.
Musculoskeletal Physical medicine &/or rehab medicine, OT/PT assessment of mobility, self-help skills
Nutritional monitoring incl vitamin D intake
Cardiomegaly EKG & echocardiographyAnnually for signs of cardiomegaly
Nephrotic
syndrome 		Urinalysis for proteinAnnually
Other Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.At each visit

OT = occupational therapy; PT = physical therapy

From: Free Sialic Acid Storage Disorders

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