Insomnia in Cornelia de Lange Syndrome
Pediatrics; Sleep; Otorhinolaryngology; melatonin; smith-magenis-syndrome; Cornelia de Lange Syndrome; Sleepiness; Insomnia; sleep disturbance; sleep disturbance/disorders; De Lange syndrome; trajectory; characteristics
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. (C) 2012 Elsevier Ireland Ltd. All rights reserved.
Rajan R; Benke J R; Kline A D; Levy H P; Kimball A; Mettel T L; Boss E F; Ishman S L
International Journal of Pediatric Otorhinolaryngology
2012
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1016/j.ijporl.2012.03.008" target="_blank" rel="noreferrer noopener">10.1016/j.ijporl.2012.03.008</a>
Characterization of sleep disturbance in Cornelia de Lange Syndrome
Cornelia de Lange Syndrome; Sleep disordered breathing; Sleepiness; Snoring; breathing difficulties; sleep disturbance; De Lange syndrome; trajectory; characteristics; sleep disordered breathing
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. Caregivers of 22 patients with CdLS completed 3 validated Pediatric Sleep Questionnaires: the Pediatric Sleep Questionnaire (PSQ), Pediatric Daytime Sleepiness Scale (PDSS), and OSA18. 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. 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.
Stavinoha Rose C; Kline A D; Levy H P; Kimball A; Mettel T L; Ishman S L
International Journal of Pediatric Otorhinolaryngology
2011
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1016/j.ijporl.2010.11.003" target="_blank" rel="noreferrer noopener">10.1016/j.ijporl.2010.11.003</a>