Table 5.

Recommended Surveillance for Individuals with ARID1B-RD

System/ConcernEvaluationFrequency
Constitutional Growth parametersAt each visit
Eyes Ophthalmologic evalAnnually
ENT Audiologic evalAs required
Musculoskeletal Clinical assessment for scoliosisAnnually, until growth is complete
Neurologic Monitor those w/seizures as clinically indicated.As needed
Psychiatric Behavior assessment for anxiety, attention, & aggressive or self-injurious behavior
Endocrine Hormonal eval 1 &/or bone age studies
Miscellaneous/Other Monitor developmental progress & educational needs.Annually
1.

To assess for poor growth velocity and/or short stature; specific hormonal evaluations depend on the clinical scenario but could include thyroid function tests and evaluation of growth-specific factors (e.g., IGF1 and IGFBP3 levels).

From: ARID1B-Related Disorder

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