Constitutional
| Measurement of growth parameters | To 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.
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Respiratory
| Polysomnography | To assess for obstructive &/or central sleep apnea 1 |
Musculoskeletal
| AP & lateral radiographs of spine in children & adolescents | To evaluate for scoliosis |
Orthopedics / physical medicine & rehab / PT & OT eval | To 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)
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DXA scan of hips & lower spine beginning in childhood 2 | To assess bone mineral density |
Development
| Developmental assessment | To incl motor, adaptive, cognitive, & speech/language eval Eval for early intervention / special education
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Psychiatric/
Behavioral
| Neuropsychiatric eval | For persons age >12 mos: screening for behavior concerns incl sleep disturbances, ADHD, anxiety, &/or traits suggestive of ASD |
Neurologic
| Neurologic eval | Consider EEG if seizures are a concern. |
Eyes
| Ophthalmologic eval | To assess for ↓ vision, abnormal ocular movement, strabismus |
Genitourinary
| Assessment for genital hypoplasia &/or pubertal development (in adolescents & adults) on physical exam | Consider referral to:
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Endocrine system & lipid metabolism
| Baseline laboratory testing 3 | |
Genetic counseling
| By genetics professionals 4 | To inform affected persons & families re nature, MOI, & implications of Schaaf-Yang syndrome to facilitate medical & personal decision making |
Family support
& resources
| | Assess need for:
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