Table 6.

Recommended Surveillance for Individuals with PPP2R1A-Related Neurodevelopmental Disorder

System/ConcernEvaluationFrequency
Neurologic
  • Monitor seizures as clinically indicated.
  • Assess for new manifestations such as seizures & changes in muscle tone.
At each visit
Development Monitor developmental progress & educational needs.
Growth/Feeding/
Gastrointestinal
  • Measure growth parameters.
  • Evaluate nutritional status & safety of oral intake.
  • Consider whether GERD may be a contributing issue.
Musculoskeletal Physical medicine, OT/PT assessment of mobility, self-help skills
Physical exam to assess for development of scoliosisAt each visit until skeletal maturity
ENT Dental evalAt least annually after eruption of teeth or as clinically indicated
Hearing Audiology evalAnnually in childhood or as clinically indicated
Psychiatric/
Behavioral 		Behavioral assessment for anxiety, attention, & aggressive or self-injurious behaviorAs clinically indicated
Family/
Community 		Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.At each visit

GERD = gastroesophageal reflux disease; OT = occupational therapy; PT = physical therapy

From: PPP2R1A-Related Neurodevelopmental Disorder

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