Table 5.

Recommended Surveillance for Individuals with EXOSC3 Pontocerebellar Hypoplasia

System/ConcernEvaluationFrequency
Respiratory Assess airway & pulmonary function & secretion management.Monitoring of respiratory function may be necessary to detect sleep apnea.
Gastrointestinal/
Feeding
  • Aspiration risk & nutritional status
  • Monitor for constipation.
Annually; more frequently if needed
Musculoskeletal
  • PT/OT eval
  • Assess for contractures, scoliosis, foot deformities.
  • Hip/spine x-rays
Neurologic
  • Monitor those w/seizures as clinically indicated.
  • Monitor for dystonia & choreic movements.
Development Monitor developmental milestones
Family support
& resources 		Family needs

OT = occupational therapy, PT = physical therapy

From: EXOSC3 Pontocerebellar Hypoplasia

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