Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with GNB5-Related Neurodevelopmental Disorder

System/ConcernEvaluationComment
Constitutional Measurement of length (or height), weight, head circumference
Neurologic By pediatric neurologist
  • Full neurologic exam
  • Brain MRI (if not performed at time of initial eval)
  • EEG if seizures suspected
DD/ID Developmental assessment by general or developmental pediatrician / SLP eval / psychology eval
  • To examine age-appropriate motor, adaptive, cognitive, & speech/language abilities
  • Eval for early intervention / special education
Musculoskeletal Orthopedics / physical medicine & rehab / PT & OT evalTo include assessment of:
  • Gross motor & fine motor skills
  • Contractures & kyphoscoliosis
  • Mobility, ADL, & need for adaptive devices
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Sinus node
dysfunction 		By pediatric cardiologist
  • To incl 12-lead EKG & 24-hr ambulatory (Holter) EKG
  • Consider implantation of digital EKG loop recorder, or prolonged event monitor recordings to document or exclude assoc of asystole or other arrhythmias w/seizures.
  • EKG to exclude structural heart disease (not found to date in this condition)
Eyes/Vision By pediatric ophthalmologistTo incl assessment of vision, fundus exam
Gastrointestinal/
Feeding 		Gastroenterology / nutrition / feeding team eval
  • To incl eval of aspiration risk & nutritional status
  • Consider eval for gastric tube placement in those w/dysphagia &/or aspiration risk.
Genetic
counseling 		By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of GNB5-NDD to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

ADL = activities of daily living; DD = developmental delay; ID = intellectual disability; OT = occupational therapy; PT = physical therapy; MOI = mode of inheritance; SLP = speech-language pathology

1.

Medical geneticist, certified genetic counselor, or certified advanced genetic nurse

From: GNB5-Related Neurodevelopmental Disorder

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