Table 3.

GNAO1-Related Disorder: Recommended Evaluations Following Initial Diagnosis

System/ConcernEvaluationComment
Neurologic Eval by pediatric or adult neurologist
  • For evidence of DD/ID, epilepsy, & movement disorder
  • For those w/abnormal movements, eval by movement specialist is recommended.
  • Perform EEG if seizures are a concern. Distinguishing between dystonia & seizure can be a challenge.
  • Consider brain MRI if not previously performed.
Dysarthria Communication assessment / speech-language therapy assessment
  • For all persons w/speech delay, ensure hearing is normal.
  • Evaluate need for communication aids.
Development Developmental assessment & cognitive function eval
  • To incl motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / individual education program
Neurobehavioral/Psychiatric Neuropsychiatric evalScreening for behavior concerns incl sleep disturbances, ADHD, anxiety, &/or findings suggestive of ASD
Musculoskeletal/ADL Orthopedics / physical medicine & rehab / PT & OT evalTo incl assessment of:
  • Gross motor & fine motor skills
  • Mobility, ADL, & need for adaptive devices
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
  • Orthopedics eval for scoliosis &/or joint deformity
Gastrointestinal/Feeding Gastroenterology / nutrition / feeding team eval
  • To incl eval of aspiration risk & nutritional status
  • Consider eval for gastrostomy tube placement in persons w/dysphagia &/or aspiration risk.
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of GNAO1-related disorder 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; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: GNAO1-Related Disorder

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