Table 6.

Recommended Evaluations Following Initial Diagnosis: SETD2-NDD with Multiple Congenital Anomalies (c.5218C>T Pathogenic Variant)

System/ConcernEvaluationComment
Constitutional Measurement of height, weight, head circumferenceTo assess for FTT in infants
Gastrointestinal Gastroenterology / nutrition / feeding team eval
  • Incl eval of aspiration risk & nutritional status.
  • Consider eval for gastrostomy tube placement in those w/dysphagia &/or aspiration risk.
Respiratory Assess for signs & symptoms of hypoventilation &/or tracheomalacia.Consider referral to pulmonologist.
Development Developmental assessment
  • Incl motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
Neurologic Neurologic eval
  • Incl brain MRI
  • Consider EEG if seizures are a concern.
Hearing Audiologic evalAssess for sensorineural &/or conductive hearing loss.
Eyes Ophthalmologic examIncl assessment of visual acuity, slit lamp exam (for cataracts), fundus exam (for optic nerve hypoplasia, retinal telangiectasia, retinal detachment)
Cardiovascular EchocardiogramFor congenital heart defects
Genitourinary Physical exam for cryptorchidism in malesConsider referral to urologist.
Kidney ultrasound examConsider referral to urologist &/or nephrologist as needed.
Endocrinologic Electrolyte panel 1
  • To assess for hyponatremia
  • If present, consider eval for SIADH. 2
TSH & free T4To assess for hypothyroidism
Musculoskeletal Orthopedics / physical medicine & rehab / PT/OT evalIncl 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)
Genetic
counseling 		By genetics professionals 3To inform affected persons & their families re nature, MOI, & implications of SETD2-NDD to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

ADL = activities of daily living; FTT= failure to thrive; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy; TSH = thyroid stimulating hormone; SIADH = syndrome of inappropriate antidiuretic hormone

1.

To include sodium, potassium, chloride, and bicarbonate at a minimum

2.

To date, SIADH has not been found in those with hyponatremia who have undergone evaluation.

3.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: SETD2 Neurodevelopmental Disorders

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