Insomnia in Cornelia de Lange syndrome.

OBJECTIVE: Up to 55% of patients with Cornelia de Lange Syndrome (CdLS) experience sleep disturbance. Prior evaluation of children without CdLS with similar intellectual disability and self-injurious behavior suggests that sleep disturbances may be related to insomnia or circadian issues. METHODS: Caregivers of 31 patients (19 children) with CdLS completed a sleep history questionnaire focused on sleep patterns and evening sleep behavior to screen for signs and symptoms of insomnia and circadian rhythm disorders. RESULTS: The mean age of participants was 14.5 years (range 0.6-37). Major difficulty in falling asleep (75% pediatric, 33% adult) and staying asleep (52% pediatric, 33% adult) was noted. Overall, time to sleep onset was 27.0 ± 17.6 min, however in those with stated sleep onset difficulty, average time to sleep was 37.8 ± 16.4 min (p=0.002). The mean number of pediatric nighttime awakenings was 1.5 overall and 2.1 in those with stated sleep maintenance difficulties versus 0.7 and 1.5 respectively in adults. Children with CdLS tended to fall back asleep slower (61.8 min) than adults (14.9 min), but none of the comparisons between adult and pediatric sleep measures were significant. Greater than half of participants reported a family member with a possible circadian rhythm disorder. CONCLUSIONS: Symptoms suggestive of insomnia or circadian rhythm disorder are prevalent in this cohort of children and adults with CdLS. Adults may have less severe symptoms than children, suggesting some improvement over time although this study is underpowered for this analysis. Further studies are necessary to better characterize sleep disturbance in the CdLS population.

Unverifiable publications in otolaryngology residency applications.

OBJECTIVE: To determine the prevalence of unverifiable ("ghost") publications in applications to an otolaryngology residency program through the Electronic Residency Application Service (ERAS), correlate with applicant characteristics, and determine if incidence changed after the addition of PubMed (PMID) numbers in 2008. STUDY DESIGN AND SETTING: Cross-sectional study of residency applications before and after inclusion of PMID numbers at an academic otolaryngology program. SUBJECTS AND METHODS: Applications for 2007 and 2008 were reviewed. Publications were verified against Medline, Google Scholar, PubMed, ISI Web of Science, and Google. Ghost publications were defined as journals, books, abstracts, or posters that could not be verified as presented, published, or including the applicant author. RESULTS: In total, 489 applications were reviewed: 243 before PMID numbers were requested and 246 after. Of 2300 listed publications, 125 (5%) were not actual publications and 460 (20%) were in pending status. Forty-five percent (775/1715) could not be verified: 660 of 953 (69%) abstracts/posters, 18 of 47 (38%) chapters, and 97 of 715 (14%) journal articles. Abstracts/posters and book chapters were hardest to verify. The proportion of overall reported publications that could be verified was lower following the addition of PMID to the ERAS application (P = .0003), and the proportion of verifiable journal articles was unchanged from 86.0% to 86.9% (P = .62). Unlike previous findings, gender and medical school ranking were not associated with ghost publications. CONCLUSION: A substantial number of publications, especially book chapters and posters/abstracts, listed on otolaryngology residency applications could not be verified. The addition of the PMID to applications did not reduce the number of ghost journal publications.

Characterization of sleep disturbance in Cornelia de Lange Syndrome.

OBJECTIVE: Prior studies have suggested that sleep disturbance is common in Cornelia de Lange Syndrome (CdLS); however, the nature of this sleep disturbance has not been well characterized. In this study, we evaluate the prevalence of sleep disordered breathing (SDB) and sleepiness in children and young adults with CdLS. METHODS: Caregivers of 22 patients with CdLS completed 3 validated Pediatric Sleep Questionnaires: the Pediatric Sleep Questionnaire (PSQ), Pediatric Daytime Sleepiness Scale (PDSS), and OSA18. RESULTS: Both measures of SDB (OSA18 and PSQ) suggest that 35-36% of these patients may have moderate to severe SDB. This is much higher than the general population estimates of 1-4% for SDB with a relative risk of 5.2 (95% CI: 2.8-9.9). Correlation between the OSA18 and PSQ was significant (R=0.67; 95% CI: 0.33-0.85, p=0.0007). Confirming these results among patients with a high probability of SDB (based upon OSA18 scores ≥60), there was a non-significant trend toward increased sleepiness with a relative risk of 2.0 (95% CI: 0.73-5.7, p=0.31) on the PDSS and 2.9 (95% CI: 0.93-9.1, p=0.08) on the PSQ sleepiness scale. In those patients with low probability of SDB (OSA18<60), sleepiness was still seen in 13-29% of patients. Overall 23-35% of participants were characterized as sleepy. CONCLUSIONS: Sleep disordered breathing and sleepiness appear to be common in CdLS although small sample sizes limit further conclusions. Additional studies with larger sample size and confirmation with polysomnography are needed to further explore the nature and extent of sleep disturbance in this population.

Depression, sleepiness, and disease severity in patients with obstructive sleep apnea.

OBJECTIVES/HYPOTHESIS: To determine if a relationship exists between depression, disease severity, and sleepiness in patients with obstructive sleep apnea (OSA). STUDY DESIGN: Case control study. METHODS: Fifty-three consecutive patients with suspected OSA were evaluated before treatment and compared with controls by using the Beck Depression Inventory (BDI), Epworth Sleepiness Scale (ESS), and polysomnography. RESULTS: OSA was associated with an increased risk of depression in the study group compared to the control group (odds ratio = 6.3, 95% confidence interval: 1.9-20.6, P = .002); depression was seen in 35% of OSA patients and 8% of controls (P < .001). There was a significant correlation between BDI and ESS scores (r = 0.342, P = .012). In addition, ESS was significantly associated (P = .039) with depression in a linear regression model that controlled for race, sex, age, and respiratory disturbance index (RDI). RDI and depression were weakly associated (P = .056) in this model, and there was no correlation found between BDI scores and OSA disease severity (RDI)(r = 0.446). CONCLUSIONS: Patients with OSA and daytime sleepiness are more likely to have depressive symptoms as compared with controls. OSA disease severity, as measured with the RDI score, is a weak predictor of BDI score, and no correlation was seen between the severity of OSA and BDI scores after controlling for other factors. However, there was a strong correlation between sleepiness (ESS) and disease severity (BDI). These data suggest that OSA patients with symptoms of excessive sleepiness have the highest risk of associated depressive symptoms and may benefit most from depression screening.