Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with CTNNB1 Neurodevelopmental Disorder

System/ConcernEvaluationComment
Neurologic Neurologic eval
  • Assess for spasticity & dystonia.
  • Consider MRI of spine if evidence of lower limb spasticity to assess for possibility of underlying tethered cord.
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)
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
Speech delay Eval by speech-language pathologistAssess need for alternative communication.
Psychiatric/
Behavioral 		Neuropsychiatric evalFor persons age >12 mos: screening for behavior concerns incl sleep disturbances, ADHD, anxiety, &/or findings suggestive of ASD
Gastrointestinal/
Feeding 		Gastroenterology / nutrition / feeding team eval
  • To incl eval of aspiration risk, swallowing difficulties, reflux & nutritional status
  • Consider eval for gastrostomy tube placement in persons w/dysphagia &/or aspiration risk.
Ophthalmologic Routine examTo assess for refractive error, strabismus
Retinal exam
  • To assess for the range of retinal manifestations of exudative vitreoretinopathy at time of 1st diagnosis (incl early infancy) 1
  • May require fluorescein angiography
Genetic counseling By genetics professionals 2To inform affected persons & their families re nature, MOI, & implications of CTNNB1-NDD 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; CTNNB1-NDD = CTNNB1 neurodevelopmental disorder; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy

1.
2.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: CTNNB1 Neurodevelopmental Disorder

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