Table 4.

GRIN2A-Related Disorders: Recommended Evaluations Following Initial Diagnosis

System/ConcernEvaluationComment
Constitutional Assessment of overall growth incl weight, height, & head circumference
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech-language eval
  • Evaluate for early intervention & need for special education.
  • Assess for developmental regression across all areas.
Epilepsy Neurologic eval
  • EEG
  • Careful clinical history to identify seizures
  • In infancy & childhood, sleep-deprived or sleep EEG w/monitoring to capture sleep, as this is essential to identify DEE-SWAS
Speech & language disorders Consultation w/speech-language pathologistAssessment for dyspraxia, dysarthria, & language impairment
Movement disorders /
Musculoskeletal /
Activities of daily living 		Orthopedics / physical medicine & rehab / PT & OT evalIn severe DEE cases, consider eval for:
  • 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).
Neurobehavioral/
Psychiatric 		Neuropsychiatric eval
  • Screening for behavior concerns incl sleep disturbances, ADHD, &/or ASD
  • In persons w/null variants, consider eval for psychiatric disorders (e.g., anxiety, mood, psychotic disorders).
Gastrointestinal/
Feeding 		Gastroenterology / nutrition / feeding team eval
  • Eval of aspiration risk & nutritional status
  • Consider need for gastrostomy tube in persons w/dysphagia &/or aspiration risk.
Genetic counseling By genetics professionals 1To obtain a pedigree & inform affected persons & their families re nature, MOI, & implications of GRIN2A-related disorders 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; DEE-SWAS = developmental and epileptic encephalopathy with spike-wave activation in sleep; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: GRIN2A-Related Disorders

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