Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with GNB1 Encephalopathy

System/ConcernEvaluationComment
Neurologic Neurologic evalTo incl:
  • Brain MRI
  • EEG incl sleep study to characterize any recurrent abnormal episodes & to evaluate for subtle or subclinical seizures & epileptic encephalopathy
Development Developmental assessment

To incl:

  • Motor, adaptive, cognitive, & speech/language evaluation
  • Evaluation for early intervention / special education
Psychiatric/
Behavioral 		Neuropsychiatric evalIn individuals age >12 mos: screen for behavior problems incl sleep disturbances, ADHD, anxiety, &/or traits suggestive of ASD.
Musculoskeletal Orthopedics / physical medicine & rehab / PT & OT evalTo incl assessment of:
  • Gross motor & fine motor skills
  • Mobility & activities of daily living & need for adaptive devices
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Gastrointestinal/
Feeding 		Gastroenterology / nutrition / feeding team eval
  • To incl evaluation of aspiration risk & nutritional status
  • Assess for history of recurrent constipation, cyclic vomiting, gastroesophageal reflux disease, & distended abdomen w/cramps.
  • Consider evaluation for gastric tube placement in those w/dysphagia &/or aspiration risk.
Eyes Ophthalmologic evalAssess for ↓ vision, abnormal ocular movement, strabismus.
Hearing Audiologic evalAssess for hearing loss.
Cardiovascular EchocardiogramAssess for congenital heart disease.
Genitourinary Renal ultrasound examAssess for renal anomalies incl duplicated collecting system.
Craniofacial
anomalies 		Clinical evalAssess for palatal anomalies & craniosynostosis.
Skin Skin exam for cutaneous mastocytosisIf lesions are present, referral to dermatologist for:
  • Confirmation of diagnosis
  • Recommendations for trigger avoidance
  • Photographs for serial monitoring
  • Treatment recommendations
Endocrine/Thyroid Thyroid panel (incl TSH, T3, &T4 levels)To evaluate for hypothyroidism
Hematologic/
Malignancy 		CBCTo evaluate for hematologic malignancies
Miscellaneous/
Other 		Consultation w/clinical geneticist &/or genetic counselorTo incl genetic counseling
Family supports/resourcesAssess need for:

ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder; CBC = complete blood count; OT = occupational therapy; PT = physical therapy

From: GNB1 Encephalopathy

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