Table 2.

Recommended Evaluations Following Initial Diagnosis in Individuals with EBF3 Neurodevelopmental Disorder

System/ConcernEvaluationComment
Constitutional Measure height, weight, head circumference.Attention to possible feeding issues &/or poor weight gain
Neurologic Neurologic evalTo incl brain MRI (if not performed at time of diagnosis) when there are specific neurologic findings of concern
Dysarthria Speech & language evalTo determine need for speech & language therapy &/or alternate means of communication
Developmental
delay 		Developmental assessment
  • To incl motor, adaptive, cognitive, & speech/language eval
  • Eval for early intervention / special education
Psychiatric/
Behavioral 		Neuropsychiatric evalPersons age >12 mos: screen for behavior concerns incl sleep disturbances, ADHD, anxiety, &/or traits suggestive of ASD.
Musculoskeletal /
Activities of
daily living 		Orthopedics / physical medicine & rehab / PT/OT evalTo incl assessment of:
  • Gross motor & fine motor skills
  • Contractures, clubfoot, & kyphoscoliosis
  • Ataxia
  • Mobility, activities of daily living, & need for adaptive devices
Gastrointestinal GastroenterologyIf indicated, assessment for GERD, dysphagia, constipation
Genitourinary Kidney & urinary tract eval
  • To assess for vesicoureteral reflux, cryptorchidism, neurogenic bladder, renal dysplasia
  • Ultrasound eval of kidney & urinary bladder
Genetic
counseling 		By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of EBF3-NDD to facilitate medical & personal decision making
Family support/
resources 		Assess need for:

ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder; MOI = mode of inheritance; GERD = gastroesophageal reflux disease; OT = occupational therapy; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: EBF3 Neurodevelopmental Disorder

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