Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with ANKRD17-Related Neurodevelopmental Syndrome

System/ConcernEvaluationComment
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
Neurologic Neurologic eval
  • Consider brain MRI.
  • EEG
Psychiatric/
Behavioral 		Neuropsychiatric evalFor persons age >12 mos: screening for behavior concerns incl findings suggestive of ASD, ADHD, anxiety, &/or depression
Eyes Ophthalmologic evalTo assess for ↓ vision, abnormal ocular movement, best corrected visual acuity, refractive errors, strabismus, & more complex findings that may require subspecialty referral
Gastrointestinal/
Feeding 		Gastroenterology / nutrition / feeding team eval
  • To incl eval of nutritional status
  • Consider eval for gastrostomy tube placement in persons w/inadequate caloric intake.
Immunologic
  • Assess for recurrent infections.
  • Low threshold for immunologist referral
Musculoskeletal Orthopedics / physical medicine & rehab / PT & OT evalTo incl assessment of:
  • Gross motor & fine motor skills
  • Gait & balance
  • Mobility, ADL, & need for adaptive devices
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
  • Scoliosis
Genitourinary Kidney & urinary tract ultrasound
Integument Examine for pigmentary abnormalities.
Endocrine
  • Assess for growth deficiency.
  • Consider measurement of thyroid function, serum & urine calcium; monitor for history of suggestive hypoglycemia symptoms.
Hearing Audiologic eval
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of ANKRD17-related neurodevelopmental syndrome 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: ANKRD17-Related Neurodevelopmental Syndrome

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