Obstructive Sleep Apnea in Adults with Treacher Collins Syndrome is Related with Altered Anthropometric Measurements, Increased Blood Pressure and Impaired Quality of Life.

Objectives This study aimed at evaluating the risk for obstructive sleep apnea (OSA) and its frequency in adults with Treacher Collins syndrome (TCS). The association of OSA with excessive daytime sleepiness (EDS), respiratory symptoms, and clinical variables was also assessed. Material and Methods The subjects were prospectively screened for OSA through the Berlin Questionnaire and type I polysomnography. The Epworth Sleepiness Scale and the Respiratory Symptoms Questionnaire were used for assessing OSA-related symptoms. Quality of life was assessed by means of the Short Form 36 Health Survey. Results The sample comprised 20 adults with TCS (55.0% female), aged 22.6 ± 5.8 years. Mean values of systemic blood pressure (113.0 ± 12.6/68.0 ± 9.5mmHg), body mass index (22.9 ± 5.9kg/m 2 ), neck (34.1 ± 4.3cm), and waist circumference (80.4 ± 13.6cm) characterized the sample. A high risk for OSA was detected in 35% of the sample. Polysomnography results indicated an OSA frequency of 44.4%, with a median apnea-hypopnea index (AHI) value of 3.8 events/hour (minimum = 0.2; maximum = 77.5). Snoring (75.0%), nasal obstruction (70.0%) and EDS (20.0%) were the reported OSA-related symptoms. Quality of life median scores were 72.3 points (minimum = 45.0; maximum = 91.1). Strong positive correlations between AHI versus waist circumference and AHI versus systolic blood pressure were found. Moderate positive correlations between AHI versus body mass index and AHI versus neck circumference were detected. Negative correlation between AHI versus vitality were also observed. Conclusion Adults with TCS are at high risk for OSA, which is associated with respiratory symptoms, altered anthropometric measurements, increased systolic pressure and impairment of quality of life.

Surgical Closure of the Cleft Palate Has a Transient Obstructive Effect on the Upper Airway in Children.

OBJECTIVE: To prospectively investigate the occurrence of respiratory symptoms related to obstructive sleep apnea (OSA) following primary palatoplasty in children with cleft palate (CP). METHOD: Fifty-six nonsyndromic children presenting CP with a previously repaired cleft lip (CL) or without CL were assessed before and after palate repair. Twenty nonsyndromic children with isolated CL were analyzed as controls before and after lip repair. Respiratory symptoms were investigated preoperatively, and at early and late postoperative periods. Based on the parent reports of "difficulty of breathing (D), apnea events (A) and/or snoring (S) during sleep, a validated OSA index (1.42D + 1.41A + 0.71S - 3.83) was used to predict absence of OSA, possible OSA, and presence of OSA, at the 3 periods analyzed. RESULTS: Screening for OSA showed that the CP group exhibited an increased mean index at the early postoperative assessment, suggesting "possible OSA," and a higher frequency of snoring at the early and late postoperative assessments, as compared to the CL group (P < .05). Sleep apnea events were not reported. CONCLUSIONS: Surgical closure of the palate has an obstructive effect on the upper airway in the short term, causing OSA-related respiratory symptoms, mostly transient. However, the high prevalence of snoring still observed in the long term indicate that children with a palatal cleft who undergo surgical repair are at risk for OSA. The results support the conclusion that OSA is underappreciated in this population.