The familial aggregation of pediatric obstructive sleep apnea syndrome.

Objective: To determine the role of genetic mechanisms in the development of pediatric obstructive sleep apnea syndrome (OSAS).

Design: Genetic-epidemiologic survey of families of index children with laboratory-confirmed OSAS.

Setting: Tertiary care academic medical center.

Participants: Six-hundred nap polysomnograms performed in our institution's pediatric sleep laboratory over a 6-year period (1994-2000) were reviewed, and the 497 children who tested positive for OSAS were selected. A caretaker of 200 of these index patients was contacted, and 115 were enrolled in the study.

Intervention And Main Outcome Measure: Questionnaire-type telephone interviews were conducted with the current caretakers of the index patients to assess the distribution of sleep-disordered breathing in the first-degree relatives.

Results: Data were collected for 445 first-degree relatives (256 adults and 189 children) of the 115 index patients. Habitual snoring was found in 194 (43.6%) of the family members, while symptoms highly suggestive of OSAS (nighttime "gasping for air" or "cessation of breathing") were found in 91(20.4%). Sixty-eight (26.6%) of the adult first-degree relatives and 23 (12.2%) of the pediatric first-degree relatives had symptoms highly suggestive of OSAS. Of the 115 index children, 50 (43.5%) had at least 1 relative with symptoms highly suggestive of OSAS; 6 (1.3%) of the first-degree relatives had sleep study results positive for OSAS, 4 (0.9%) were using nasal continuous positive airway pressure, and 21 (4.7%) had prior surgery for the treatment of OSAS.

Conclusion: Considering the established prevalence of OSAS in the general population (2%-4%), the results of this study support a familial basis for this disorder.