Table 5.

Recommended Surveillance for Individuals with ASXL3-Related Disorder

System/Concern

Evaluation

Frequency

Development Monitor developmental progress & educational needs.At each visit
Psychiatric/
Behavioral 		Behavioral assessment for attention & aggressive or self-injurious behavior
Feeding
  • Measurement of growth parameters
  • Eval of nutritional status & signs/symptoms of GERD or feeding aversion
Neurologic
  • Monitor those w/seizures as clinically indicated.
  • Assess for new manifestations incl seizures & changes in tone.
Musculoskeletal Physical medicine, OT/PT assessment of mobility, self-help skills
Respiratory Assess for signs/symptoms of sleep disturbance & sleep apnea.
Miscellaneous/
Other 		Assess family need for social work support (e.g., palliative/respite care, home nursing, & other local resources) & care coordination.
Dental Eval by dentistEvery 6 mos after age 3 yrs or as clinically indicated
Eyes Ophthalmology evalAnnually or as clinically indicated

GERD = gastroesophageal disease; OT = occupational therapy; PT = physical therapy

From: ASXL3-Related Disorder

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