Analysis of the prevalence of sleep-disordered breathing in individuals with velocardiofacial spectrum syndrome and relationship with cardiorespiratory capacity

• Grant number: 23/04599-6
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: June 01, 2023
• End date: May 31, 2024
• Field of knowledge: Health Sciences - Medicine
• Principal Investigator: Sergio Henrique Kiemle Trindade
• Grantee: Pedro Henrique Ribeiro Moreira
• Host Institution: Hospital de Reabilitação de Anomalias Craniofaciais (HRAC). Universidade de São Paulo (USP). Bauru , SP, Brazil

Abstract

Introduction: The velocardiofacial spectrum syndrome, often caused by the 22q11.2 deletion, affects one in every 2,000 individuals, which makes it one of the most frequent syndromes in humans. Among more than 180 findings present in the spectrum of chromosome 22q11.2 alterations, congenital heart diseases and craniofacial anomalies stands out, in addition to sleep-disordered breathing, which may, in turn, predispose or aggravate functional alterations in this population, thus impairing your quality of life. Objectives: The aim of this study is to determine the occurrence of obstructive sleep-disordered breathing in individuals with velocardiofacial spectrum syndrome and relate their presence to changes in nasal patency and functional capacity. Patients and methods: Children aged 6 to 15 years, diagnosed with 22q11.2 deletion syndrome or its main phenotypes (DiGeorge or velocardiofacial syndrome) with active and regular follow-up at the Hospital de Reabilitação de Anomalias Craniofacials will be enrolled in the study. Sociodemographic data, anthropometric measurements associated with the application of the Child Sleep Disorders Scale (CSDS) and the Pediatric Sleep Questionnaire (PSQ) will be used. To assess nasal permeability, the Nasal Congestion Index (CQ-5) and the Visual Analog Scale (VAS) will be applied. Additionally, to assess the functional capacity, the 6-minute walk tests (6MWT) will be performed together with the BORG Scale. Additionally, type III polysomnographic analyzes will be performed. The study was approved by the local Research Ethics Committee and all participants and guardians must fill out the Term of Consent/Free and Informed Assent. The results will be analytically evaluated in order to determine the presence of sleep-disordered breathing and correlate their occurrence with possible changes in nasal permeability and functional capacity. Expected results: It is expected to find a high prevalence of sleep-disordered breathing in patients with velocardiofacial spectrum. Additionally, it is speculated that the greater manifestation of sleep-disordered breathing could negatively impact the functional capacity of these individuals.