Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with Schaaf-Yang Syndrome

System/ConcernEvaluationComment
Constitutional Measurement of growth parametersTo evaluate for growth deficiency in infancy/childhood & obesity in adulthood
Gastrointestinal/
Feeding 		Gastroenterology / nutrition / feeding team eval
  • To incl eval for aspiration risk, nutritional status, & signs & symptoms of GERD & constipation
  • May require use of special nipple &/or nasogastric tube in infancy
  • Consider eval for gastric tube placement in patients w/dysphagia &/or aspiration risk.
Respiratory PolysomnographyTo assess for obstructive &/or central sleep apnea 1
Musculoskeletal AP & lateral radiographs of spine in children & adolescentsTo evaluate for scoliosis
Orthopedics / physical medicine & rehab / PT & OT evalTo incl assessment of:
  • Gross motor & fine motor skills
  • Contractures, clubfoot, & scoliosis
  • Mobility, ADL, & need for adaptive devices
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
DXA scan of hips & lower spine beginning in childhood 2To assess bone mineral density
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech/language eval
  • Eval for early intervention / special education
Psychiatric/
Behavioral 		Neuropsychiatric evalFor persons age >12 mos: screening for behavior concerns incl sleep disturbances, ADHD, anxiety, &/or traits suggestive of ASD
Neurologic Neurologic evalConsider EEG if seizures are a concern.
Eyes Ophthalmologic evalTo assess for ↓ vision, abnormal ocular movement, strabismus
Genitourinary Assessment for genital hypoplasia &/or pubertal development (in adolescents & adults) on physical examConsider referral to:
  • Urologist in males w/undescended testes;
  • Endocrinologist in those w/evidence of hypoplastic genitalia &/or hypogonadism.
Endocrine system & lipid metabolism Baseline laboratory testing 3
Genetic counseling By genetics professionals 4To inform affected persons & families re nature, MOI, & implications of Schaaf-Yang 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; DXA = dual-energy x-ray absorptiometry; GERD = gastroesophageal reflux disease; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy

1.

This is particularly important for those who may be considering growth hormone (GH) therapy and should be completed, along with an adenotonsillar evaluation, prior to the initiation of GH therapy [Berini et al 2013, Deal et al 2013].

2.
3.

The following laboratory studies should be considered, depending on the age of the affected individual: fasting blood glucose and glucose tolerance after 120 mins; insulin-like growth factor 1 / insulin-like growth factor binding protein 3; random growth hormone level; follicle-stimulating hormone and luteinizing hormone; total testosterone (in males); thyroid-stimulating hormone and thyroxine; a lipid panel to include total cholesterol, triglycerides, HDL cholesterol, and LDL cholesterol; uric acid level.

4.

Medical geneticist, certified genetic counselor, or certified advanced genetic nurse

From: Schaaf-Yang Syndrome

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