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.

Radiographic analysis of cochlear nerve vascular compression.

OBJECTIVES: We analyzed whether radiographically demonstrated anterior inferior cerebellar artery (AICA) vascular compression of the cochleovestibular nerve in asymmetric hearing loss could be correlated to either the symptomatic ear or to cochlear nerve diameter. METHODS: We undertook a retrospective case-control study in which patients were enrolled into a database if audiometry demonstrated asymmetry of 20 dB at one frequency, asymmetry of 10 dB at two frequencies, or a difference of 20% on word recognition scores. If AICA vascular contact was demonstrated on subsequent magnetic resonance imaging of the cerebellopontine angle, patients were included in the study. Patients with vestibular schwannoma or Meniere's disease were excluded. The AICA contact was graded by a blinded neuroradiologist according to criteria proposed by McDermott et al. The cross-sectional area of the cochlear nerve was measured. RESULTS: Symptomatic ears could be correlated to a decreased cochlear nerve diameter, but not to the degree of AICA penetration into the internal auditory canal. CONCLUSIONS: AICA vascular compression of the cochleovestibular nerve does not appear to correlate to hearing loss or to cochlear nerve diameter. The finding of decreased cochlear nerve diameter in symptomatic ears implies an alternative mechanism for asymmetric hearing loss.