Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with a KCNQ2-Related Disorder

System/ConcernEvaluationComment
Neurologic Neurologic eval
  • To incl brain MRI & EEG
  • Video EEG monitoring incl sleep phase to obtain information on presence of seizures. A burst-suppression EEG pattern might only be seen during sleep.
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech/language eval
  • Eval for early intervention / special education
Psychiatric/
Behavioral 		Neuropsychiatric evalFor persons age >12 mos: screening for behavior concerns 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
  • Contractures, clubfoot, & kyphoscoliosis
  • Mobility, ADL, & 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 eval of aspiration risk & nutritional status
  • Consider eval for gastric tube placement in persons w/dysphagia &/or aspiration risk.
Eyes Ophthalmologic eval
  • To assess for ↓ vision, abnormal ocular movement, best corrected visual acuity, refractive errors, strabismus
  • More complex findings may require subspecialty referral.
Hearing Audiologic evalTo assess for hearing loss
Genetic
counseling 		By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of a KCNQ2-related disorder to facilitate medical & personal decision making
Family support
& resources 		Assess 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: KCNQ2-Related Disorders

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