ADVERTISEMENT

Issue Navigator

Volume 15 No. 03
Earn CME
Accepted Papers





Scientific Investigations

Obstructive Sleep Apnea in Children With Beckwith-Wiedemann Syndrome

Christopher M. Cielo, DO, MS1,2; Kelly A. Duffy, MPH3; Jesse A. Taylor, MD4,5; Carole L. Marcus, MBBCH1,2; Jennifer M. Kalish, MD, PhD2,3
1Division of Pulmonary Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; 2Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; 3Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; 4Division of Plastic and Reconstructive Surgery, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; 5Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania

Study Objectives:

Beckwith-Wiedemann syndrome (BWS) is a rare pediatric overgrowth disorder that includes a spectrum of clinical findings including macroglossia, especially in those with loss of methylation at the imprinting control region (IC2 LOM) on chromosome 11. Children with BWS can have very severe obstructive sleep apnea (OSA), but the prevalence of OSA in this population is poorly understood, as is the relationship between OSA and the BWS genotype/phenotype. We hypothesized that there would be a high prevalence of OSA in children with BWS, and that OSA would be more severe in children with IC2 LOM.

Methods:

Medical records from children evaluated from March 2015 through January 2018 were reviewed for results from polysomnography, genetic testing, and clinical assessment.

Results:

A total of 26 children with BWS not previously treated for OSA underwent polysomnography, genetic testing, and clinical assessment. Median (range) age was 5 months (3 days to 33 months). Most children, 20 (76.9%), had an obstructive apnea-hypopnea index (OAHI) > 2 events/h. Median (range) OAHI was 4.4 events/h (0 to 56.1 events/h). OAHI was significantly greater in participants younger than 6 months compared with those older than 6 months (P = .008). Those with IC2 LOM did not have a greater OAHI (P = .61) than those with other genetic causes of BWS, but OAHI had a strong positive correlation with BWS clinical score (Spearman rho = .54, P = .004).

Conclusions:

There is a high prevalence of OSA in children with BWS with macroglossia. Younger children with BWS and those with more phenotypic features may be at greatest risk of OSA.

Citation:

Cielo CM, Duffy KA, Taylor JA, Marcus CL, Kalish JM. Obstructive sleep apnea in children with Beckwith-Wiedemann syndrome. J Clin Sleep Med. 2019;15(3):375–381.




Please login to continue reading the full article

Subscribers to JCSM get full access to current and past issues of the JCSM.

Login to JCSM

Not a subscriber?

Join the American Academy of Sleep Medicine and receive a subscription to JCSM with your membership

Subscribe to JCSM:  $125/volume year for individuals or $225/volume year for institutions to access all current articles and archives published in JCSM.

Download this article*:   $20 to access a PDF version of a specific article from the current issue of JCSM.

*Purchase of an article provides permission to access and print the article for personal scholarly, research and educational use. Please note: access to the article is from the computer on which the article is purchased ONLY. Purchase of the article does not permit distribution, electronic or otherwise, of the article without the written permission of the AASM. Further, purchase does not permit the posting of article text on an online forum or website.