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Alexander Ovchinsky, MD; Madu Rao, MD; Irwin Lotwin; Nira A. Goldstein, MD

Arch Otolaryngol Head Neck Surg. 2002;128:815-818.

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.

From the Division of Pediatric Otolaryngology, Department of Otolaryngology (Drs Ovchinsky and Goldstein), the Department of Pediatrics (Dr Rao), and the College of Medicine (Mr Lotwin), SUNY Health Science Center at Brooklyn and the Long Island College Hospital, Brooklyn, NY.

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