Table 3.

GNAI1-Related Neurodevelopmental Disorder: Recommended Evaluations Following Initial Diagnosis

System/ConcernEvaluationComment
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
Neurobehavioral/
Psychiatric 		Neuropsychiatric evalFor persons age >12 mos: screening for concerns incl sleep disturbances, ASD, anxiety, agitation, aggression, &/or ADHD
Neurologic Neurologic eval
  • To incl brain MRI
  • Consider EEG if seizures are a concern.
Musculoskeletal Physical medicine & rehab / PT & OT eval / orthopedicsTo incl assessment of:
  • Gross motor & fine motor skills
  • Scoliosis
  • Hip dysplasia
  • Mobility, ADL, & need for adaptive devices
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Gastrointestinal/
Feeding
  • Evaluate height & weight.
  • Gastroenterology / nutrition / feeding team eval
  • Assess for constipation.
  • To incl eval of aspiration risk & nutritional status
  • Consider eval for gastrostomy tube placement in persons w/dysphagia &/or aspiration risk.
Eyes Ophthalmologic eval to assess for strabismus
Genetic counseling By genetics professionals 1To obtain a pedigree & inform affected persons & their families re nature, MOI, & implications of GNAI1-NDD to facilitate medical & personal decision making
Family support
& resources 		By clinicians, wider care team, & family support organizationsAssessment of family & social structure to determine need for:

ADHD = attention-deficit/hyperactivity disorder; ADL = activities of daily living; ASD = autism spectrum disorder; GNAI1-NDD = GNAI1-related neurodevelopmental disorder; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: GNAI1-Related Neurodevelopmental Disorder

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