Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with NR2F1-Related Neurodevelopmental Disorder

System/ConcernEvaluationComment
Neurologic Neurologic eval
  • To incl brain MRI
  • Consider EEG if seizures are a concern.
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
Ophthalmologic /
Vision
impairment 		Ophthalmologic eval
  • To assess for ↓ visual acuity, refractive errors, & abnormal ocular movement (incl strabismus & nystagmus)
  • Eval for optic nerve abnormalities (optic atrophy & optic nerve hypoplasia) & CVI, which may require subspecialty referral
Gastrointestinal/
Feeding 		Gastroenterology / nutrition / feeding team eval
  • Infants may have problems w/poor latch/suck.
  • Older children may have trouble chewing & swallowing, incl mouth overstuffing &/or food pocketing.
  • To incl eval of aspiration risk & nutritional status
  • Consider eval for gastrostomy tube placement in those w/dysphagia &/or aspiration risk.
Speech delay By speech-language pathologist
Psychiatric/
Behavioral 		Mental health eval
  • Persons age >12 mos: screen for behavior concerns incl sleep disturbances, ADHD, anxiety, &/or traits suggestive of ASD.
  • Use of ADI®-R & ADOS®
Musculoskeletal Orthopedics / physical medicine & rehab / PT & OT evalTo incl assessment of:
  • 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)
Hearing Audiologic evalAssess for hearing loss.
Genetic
counseling 		By genetics professionals 1To obtain a pedigree & inform affected persons & their families re nature, MOI, & implications of NR2F1-NDD to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

ADHD = attention-deficit/hyperactivity disorder; ADI®-R = Autism Diagnostic Interview–Revised; ADL = activities of daily living; ADOS® = Autism Diagnostic Observation Schedule; ASD = autism spectrum disorder; CVI = cerebral visual impairment; MOI = mode of inheritance; NR2F1-NDD = NR2F1-related neurodevelopmental disorder; OT = occupational therapy; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: NR2F1-Related Neurodevelopmental Disorder

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