Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with PPP2R1A-Related Neurodevelopmental Disorder

System/ConcernEvaluationComment
Constitutional Measurement of growth parametersTo incl weight, length/height, & head circumference to assess for failure to thrive, short stature, and macro- or microcephaly, respectively
Neurologic Neurologic eval
  • To incl brain MRI
  • Consider EEG if seizures are a concern.
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech/language evals
  • Eval for early intervention / special education
Psychiatric/
Behavioral 		Neuropsychiatric evalFor persons age >12 mos: screening for behavioral concerns incl sleep disturbances, ADHD, anxiety, &/or traits suggestive of ASD
Gastrointestinal/
Feeding 		Gstroenterology / nutrition / feeding team eval
  • To incl eval of nutritional status & gastroesophageal reflux
  • Consider eval for gastric tube placement in persons w/dysphagia &/or severe feeding issues.
Musculoskeletal Orthopedics / physical medicine & rehab / PT & OT evalTo incl assessment of:
  • Gross motor & fine motor skills
  • Scoliosis
  • Mobility, ADL, & need for adaptive devices
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Hearing Audiology evalTo assess for hearing loss
ENT/Mouth Assessment for ear anomalies, incl microtiaConsider referral to ENT specialist when present.
Eval by dentist if teeth have eruptedHigh palate can be assoc w/dental crowding.
Cardiovascular Clinical assessment for congenital cardiac issues, such as PDAConsider referral to cardiologist as clinically indicated.
Eyes Assessment for ptosisConsider referral to ophthalmologist if present.
Genetic
counseling 		By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of PPP2R1A-NDD to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

ADHD = attention-deficit/hyperactivity disorder; ADL = activities of daily living; ASD = autism spectrum disorder; EEG = electroencephalogram; ENT = ears, nose, throat; MOI = mode of inheritance; MRI = magnetic resonance imaging; OT = occupational therapy; PDA = patent ductus arteriosus; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: PPP2R1A-Related Neurodevelopmental Disorder

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