Table 7.

Recommended Periodic Surveillance for Individuals with KAT6B Disorders

System/ConcernEvaluation 1
Development Monitor developmental progress & educational needs.
Neurologic EEG if clinical suspicion of seizures
Gastrointestinal Evaluation of feeding & symptoms suggestive of small bowel malrotation
Cardiovascular Follow up w/cardiologist if cardiac malformation present
Genitourinary Renal function (if hydronephrosis or multiple renal cysts are present)
Hearing Monitor for hearing loss.
Ocular Evaluate for amblyopia.
Endocrine Thyroid function
Musculoskeletal Physical medicine, OT/PT assessment of mobility, self-help skills
Follow up for scoliosis if vertebral anomalies are present

OT = occupational therapy; PT = physical therapy

1.

Annual or as needed

From: KAT6B Disorders

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