Table 6.

Recommended Surveillance for Individuals with TSEN54 Pontocerebellar Hypoplasia Type 2

Respiratory Assess airway & pulmonary function & secretion management.Monitoring of respiratory function may be needed to detect sleep apnea.
  • Aspiration risk & nutritional status
  • Monitor for constipation.
Annually; more frequently if needed
  • PT/OT eval
  • Assessment for contractures, scoliosis, & foot deformities.
  • Hip/spine x-rays
  • 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: TSEN54 Pontocerebellar Hypoplasia

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