Dados do Trabalho

Título

Sleep respiratory disorders in individuals with Treacher Collins Syndrome: prelimanare results.

Introdução

Treacher Collins Syndrome (CTS) is characterized by congenital craniofacial alterations including micro and mandibular retrognathia, auricular hypoplasia and the zygomatic arch, sometimes associated with cleft lip and palate. Because they are directly related to the airways, these atypical craniofacial features often lead to a reduction in nasal and pharyngeal dimensions, predisposing these individuals to obstructive sleep apnea (AOS).

Objetivo

Prospectively evaluate the occurrence of OSA in adult individuals with CTS, attended at the Physiology Laboratory of HRAC-USP

Métodos

All adult individuals (≥ 16 years) with CTS attended at HRAC-USP, during a period of 9 months, were invited to participate in the research, resulting in a n of 11 participants (21.4±6 years). For the diagnosis of OSA, the volunteers were submitted to Type I Polysomnography (Embla N 7000). For the detection of possible signs and symptoms related to OSA, it was noted: a) risk for OSA (Berlin Questionnaire), b) excessive daytime sleepiness (Epworth Sleepiness Scale), c) occurrence of respiratory complaints (Lab respiratory symptoms questionnaire. Physiology HRAC-USP), d) anthropometric data: body mass index (BMI), systemic blood pressure (BP), cervical circumference (WC) and abdominal circumference (WC), e) quality of life (SF-36)

Resultados

An average AHI of 10±21 (min = 0.2 and max = 77.5) was observed, with 27.27% presenting mild OSA and 10% severe OSA. In addition, 45% of the patients presented high risk for OSA (Berlin) and 30% excessive daytime sleepiness, high values for the age group studied. high values for the age group studied. The main respiratory complaints were snoring (82% of cases), nasal obstruction (70%) and oral breathing (80%). The mean values of systolic BP corresponded to 110±9 mmHg and diastolic BP corresponded to 67±9mmHg. The mean BMI value corresponded to 23±7 (low weight 36%, eutrophic 45%, obesity 19%, WC= 34±5cm (20% of them with WC above normality values), WC= 80±17cm (30% of them with WC above normality values).

Conclusões

Adults with CTS present physical characteristics that predispose them to OSA, with associated symptoms, due to the presence of craniofacial conditions imposed by the anomaly, which justify frequent respiratory complaints in this population and with a relevant occurrence of OSA, even in early age.

Palavras -chave

Mandibulofacial Dysostosis, Obstructive Sleep Apnea, Polysomnography and Quality of Life.