Table 5.

Recommended Evaluations Following Initial Diagnosis: SETD2-NDD with or without Macrocephaly/Overgrowth

System/ConcernEvaluationComment
Constitutional Measurement of height, weight, head circumferenceTo assess for overgrowth &/or obesity
Development Developmental assessment
  • Incl motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
Neurobehavioral/
Psychiatric 		Neuropsychiatric evalPersons age >12 mos: screen for concerns incl sleep disturbances, ADHD, anxiety, &/or traits suggestive of ASD.
Neurologic Neurologic eval
  • Incl brain MRI
  • Consider EEG if seizures are a concern.
Endocrinologic TSH & free T4To screen for hypothyroidism
Screening for growth hormone deficiencyIn those w/suggestive signs/symptoms, incl poor growth velocity
Clinical eval for signs & symptoms of precocious pubertyConsider referral to endocrinologist in those w/suggestive features
Musculoskeletal Orthopedics / physical medicine & rehab / PT/OT evalIncl 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)
Eyes Ophthalmologic examIncl assessment of visual acuity & strabismus
Hearing Audiologic evalAssess for sensorineural &/or conductive hearing loss.
Cardiovascular EchocardiogramTo assess for structural heart defects
Genitourinary Physical exam for cryptorchidism in malesConsult w/urologist as needed.
Genetic
counseling 		By genetics professionals 1To obtain a pedigree & inform affected persons & their families re nature, MOI, & implications of SETD2-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; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy; TSH = thyroid stimulating hormone

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: SETD2 Neurodevelopmental Disorders

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