Table 4.

GRIA2-Related Neurodevelopmental Disorder: Recommended Evaluations Following Initial Diagnosis

System/ConcernEvaluationComment
Constitutional Measure length/height, weight, & OFC
Neurologic Neurologic evalTo include:
  • Brain MRI
  • EEG if history of seizures
  • Eval for movement disorders
  • Eval for sleep apnea
Development Developmental assessment / physical medicine & rehab / PT & OT evalTo include assessment of:
  • Motor, adaptive, cognitive, & speech-language ability
  • Mobility, ADL, & need for adaptive devices
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills
  • Early intervention / special education
  • Speech therapy
Speech & language Eval by speech-language therapistConsider need for augmentative & alternative communication (AAC)
Neurobehavioral/
Psychiatric 		Neuropsychiatric evalFor persons age >12 mos: screening for behavior concerns including ADHD, ASD
Musculoskeletal Orthopedics / physical medicine & rehab / PT & OT evalTo include assessment of:
  • Contractures, clubfoot, & kyphoscoliosis
  • Mobility, ADL, & need for adaptive devices
Gastrointestinal/
Feeding 		Gastroenterology / nutrition / feeding team eval
  • To incl eval of aspiration risk, nutritional status, & growth
  • Consider eval for gastrostomy tube placement in persons w/dysphagia &/or aspiration risk.
  • Eval for gastroesophageal reflux disease & constipation.
Eyes Ophthalmologic evalTo assess for reduced vision, abnormal ocular movement, strabismus, & best corrected visual acuity
Hearing Audiologic evalTo assess for hearing loss
Endocrine Endocrinologic evalConsider testing for hypothyroidism.
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of GRIA2-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; MOI = mode of inheritance; OFC = occipitofrontal circumference; OT = occupational therapy; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: GRIA2-Related Neurodevelopmental Disorder

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