Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with ADNP-Related Disorder

System/ConcernEvaluationComment
Development Comprehensive developmental assessmentTo incl: motor, adaptive, cognitive, & speech/language eval; testing for ASD & ID; eval for early intervention / special education
Psychiatric/
Behavioral 		Neuropsychiatric eval if behavioral problems are presentFor persons age >12 mos: screen for behavior concerns incl sleep disturbances, ADHD, anxiety, &/or traits suggestive of ASD.
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.
Vision Ophthalmologic exam & vision assessmentIncl electrophysiologic & visual perception exam to detect cortical visual impairment
Musculoskeletal Orthopedics / physical medicine & rehab / PT & OT evalTo incl assessment of:
  • Gross motor & fine motor skills
  • Joint hypermobility
  • Mobility, activities of daily living, & need for adaptive devices
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Growth Measurement of growth parametersTo evaluate for growth deficiency, short stature, obesity
Endocrine Assess for:
  • Thyroid problems;
  • Growth hormone deficiency in those w/short stature.
Cardiac Echocardiogram
Hearing Audiology eval; referral to ENT if indicated
Neurologic Neurologic exam
  • Consider EEG if seizures a concern.
  • To incl brain MRI to detect brain abnormalities
Urinary tract Assess for frequent urinary tract infections
Immunology Assess for recurrent infections
Genetic
counseling 		By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of ADNP-related disorder in order to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder; ENT = ear, nose, and throat specialist; ID = intellectual disability; MOI= mode of inheritance; OT = occupational therapy; PT = physical therapy.

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: ADNP-Related Disorder

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