Related Experiment Videos
Obstructive sleep apnea in Costello syndrome.
Giacomo Della Marca1, Isabella Vasta, Emanuele Scarano
1Department of Neuroscience, Catholic University, Rome, Italy. dellamarca@rm.unicatt.it
American Journal of Medical Genetics. Part A
|January 19, 2006
Summary
Costello syndrome patients frequently experience obstructive sleep apnea, characterized by upper airway narrowing. Polysomnography is crucial for assessing these respiratory disorders in affected individuals.
Area of Science:
- Genetics
- Sleep Medicine
- Pediatrics
Background:
- Costello syndrome (CS) is a rare genetic disorder caused by HRAS proto-oncogene mutations.
- Upper airway abnormalities are common in CS, potentially impacting respiratory function.
Purpose of the Study:
- To investigate sleep-related respiratory activity in individuals with Costello syndrome.
- To identify the prevalence and characteristics of sleep-disordered breathing in CS patients.
Main Methods:
- Ten patients with CS (aged 3-29 years) underwent comprehensive clinical evaluations.
- Full-night polysomnography was performed to assess sleep structure and respiratory events.
- Otolaryngologic and radiologic examinations identified upper airway narrowing.
Main Results:
- Seven out of ten patients exhibited significant obstructive respiratory events during sleep (mean AHI = 7.5 events/hr).
- Obstructive events led to mild to moderate hemoglobin desaturations (mean lowest SpO2 = 85.4%).
- Sleep fragmentation was noted, with frequent awakenings.
Conclusions:
- Costello syndrome is associated with a high prevalence of obstructive sleep-related respiratory disorders.
- Upper airway narrowing is a common finding contributing to these disorders.
- Polysomnography is essential for diagnosing and managing sleep-disordered breathing in CS patients.