Table 4.

Treatment of Manifestations in Individuals with ARID1B-RD

Manifestation/ConcernTreatmentConsiderations/Other
Abnormal vision &/or strabismus Standard treatment(s) per ophthalmologist
Hearing loss Standard therapy based on the type of hearing loss detectedSee Hereditary Hearing Loss and Deafness Overview.
Congenital heart defects Standard treatment
Obstructive sleep apnea Standard treatment
Feeding difficulties Nasogastric or gastrostomy tube may be required.Eval by gastroenterologist &/or feeding specialist
Low threshold for clinical feeding eval &/or radiographic swallowing study if clinical signs or symptoms of dysphagia or feeding aversion
Constipation &/or GERD Standard therapy
Cryptorchidism / Renal anomalies Standard treatment per urologist/nephrologist, as appropriate
Scoliosis Bracing or casting as indicated by orthopedist
Seizures 1 Standardized treatment w/ASMs by experienced neurologistMany different ASMs may be effective; none has been demonstrated effective specifically for this disorder.

ASM = anti-seizure medication; GERD = gastroesophageal reflux disease

1.

Education of parents regarding common seizure presentations is appropriate. For additional information on non-medical interventions and coping strategies for parents or caregivers of children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

From: ARID1B-Related Disorder

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2025.
Copyright © 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2025 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.