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Obstructive Sleep Apnea in Jacobsen Syndrome.
Andrew S Tubbs1, Daniel Combs2,3,4, Michael A Grandner1,4
1Sleep and Health Research Program, Department of Psychiatry, College of Medicine, The University of Arizona, PO Box 245002, Tucson, AZ 85724-5002, USA.
Sleep and Vigilance
|July 23, 2021
Summary
Obstructive sleep apnea (OSA) is common in congenital disorders. This case highlights OSA in Jacobsen syndrome, suggesting screening polysomnography for affected individuals.
Area of Science:
- Genetics
- Sleep Medicine
- Pediatrics
Background:
- Congenital disorders often present with craniofacial abnormalities, hypotonia, and obesity, increasing the risk of obstructive sleep apnea (OSA).
- Jacobsen syndrome, a rare genetic disorder caused by an 11q deletion, is associated with various health issues.
Purpose of the Study:
- To describe a case of obstructive sleep apnea (OSA) in a male patient with Jacobsen syndrome.
- To discuss the implications of OSA in congenital disorders and potential cognitive impacts.
Main Methods:
- Case report detailing a male patient diagnosed with severe obstructive sleep apnea (OSA).
- Evaluation of positive airway pressure (PAP) therapy adherence, noting mask discomfort as a barrier.
Main Results:
- The patient was diagnosed with severe obstructive sleep apnea (OSA).
- The patient experienced challenges with positive airway pressure (PAP) therapy adherence due to mask discomfort.
Conclusions:
- Obstructive sleep apnea (OSA) is prevalent in individuals with congenital disorders, including Jacobsen syndrome.
- Screening polysomnography may be beneficial for patients with Jacobsen syndrome due to a high likelihood of OSA.
- The potential impact of OSA on cognitive function and the benefits of OSA treatment require further consideration.
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