Table 6. [Recommended Surveillance for Individuals with Schaaf-Yang Syndrome]. - GeneReviews®

System/Concern	Evaluation	Frequency
Growth/Feeding	Measurement of growth parameters Eval of nutritional status & safety of oral intake	At each visit
Gastrointestinal	Monitor for constipation.
Respiratory	Monitor for signs & symptoms of sleep apnea, aspiration, & respiratory insufficiency.
Polysomnography	Annually for those on long-term GH therapy ¹ or per sleep specialist
Musculoskeletal	Monitor for scoliosis & for progression of contractures. OT/PT assessment of mobility & self-help skills	At each visit
DXA scan	Every 2 yrs starting at age 5 yrs, transitioning to every 3-5 yrs in adulthood
Development	Monitor developmental progress & educational needs.	At each visit
Psychiatric/ Behavioral	Behavioral assessment for signs of ASD, anxiety, attention, & aggressive or self-injurious behavior	Annually
Neurologic	Monitor those w/seizures as clinically indicated. Assess for new manifestations incl seizures & changes in tone.	At each visit
Eyes	Assessment by ophthalmologist	Per ophthalmologist
Endocrine	Assessment for signs & symptoms of puberty & appropriate pubertal development from ages 10-17 yrs	At each visit
Miscellaneous/ Other	Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.

System/Concern

Evaluation

Frequency

Growth/Feeding

Measurement of growth parameters
Eval of nutritional status & safety of oral intake

At each visit

Gastrointestinal

Monitor for constipation.

Respiratory

Monitor for signs & symptoms of sleep apnea, aspiration, & respiratory insufficiency.

Polysomnography

Annually for those on long-term GH therapy ¹ or per sleep specialist

Musculoskeletal

Monitor for scoliosis & for progression of contractures.
OT/PT assessment of mobility & self-help skills

At each visit

DXA scan

Every 2 yrs starting at age 5 yrs, transitioning to every 3-5 yrs in adulthood

Development

Monitor developmental progress & educational needs.

At each visit

Psychiatric/
Behavioral

Behavioral assessment for signs of ASD, anxiety, attention, & aggressive or self-injurious behavior

Annually

Neurologic

Monitor those w/seizures as clinically indicated.
Assess for new manifestations incl seizures & changes in tone.

At each visit

Eyes

Assessment by ophthalmologist

Per ophthalmologist

Endocrine

Assessment for signs & symptoms of puberty & appropriate pubertal development from ages 10-17 yrs

At each visit

Miscellaneous/
Other

Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.

From: Schaaf-Yang Syndrome

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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