Adele Corcione, Luigi Antonio Del Giudice, Simona Basilicata, Mariantonia Maglio, Salvatore Aiello, Raffaele Cerchione, Anna Annunziata, Alessandro Amaddeo, Melissa Borrelli
{"title":"以呼吸受累为重点的Rett综合征复杂性管理：三级中心经验。","authors":"Adele Corcione, Luigi Antonio Del Giudice, Simona Basilicata, Mariantonia Maglio, Salvatore Aiello, Raffaele Cerchione, Anna Annunziata, Alessandro Amaddeo, Melissa Borrelli","doi":"10.3390/children12091181","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Rett syndrome (RS) is a rare neurodevelopmental disorder primarily affecting females, characterized by severe neurological impairment and complex comorbidities, including epilepsy, scoliosis, and respiratory dysfunction. Respiratory complications, such as recurrent infections and sleep-disordered breathing (SDB), are increasingly recognized as significant contributors to morbidity. This study aimed to evaluate the prevalence, severity, and management of major comorbidities-including epilepsy, scoliosis, respiratory infections, and SDB-in a pediatric cohort with genetically confirmed RS.</p><p><strong>Methods: </strong>We conducted a retrospective review of medical records from 23 female patients under 18 years of age with MECP2 mutations, referred to our tertiary care center from 2021 to 2025. Data on epilepsy, scoliosis, respiratory infections, and nutritional status were collected. The presence of SDB was assessed through overnight home polygraphy (oPG) and transcutaneous carbon dioxide monitoring in selected cases.</p><p><strong>Results: </strong>Epilepsy affected 65% of patients, all with good seizure control. Scoliosis was present in 52%, with two patients requiring spinal surgery. At least one episode of lower respiratory tract infection (LRTI) was presented in 39% of our girls. LRTIs positively correlated with the number of hospitalization and antibiotic treatment. Among patients undergoing oPG, 67% presented obstructive sleep apnea, with its severity positively correlating with the frequency of lower respiratory infections. Severe nocturnal hypercapnia was documented in three patients, leading to non-invasive or invasive ventilation.</p><p><strong>Conclusions: </strong>Our findings highlight the high prevalence of sleep-related respiratory disorders and their association with respiratory infections in children with RS. Systematic respiratory assessment, including sleep studies, and early implementation of airway clearance techniques and ventilatory support are crucial to improving clinical outcomes in this vulnerable population.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"12 9","pages":""},"PeriodicalIF":2.1000,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12468077/pdf/","citationCount":"0","resultStr":"{\"title\":\"Managing Complexity in Rett Syndrome with a Focus on Respiratory Involvement: A Tertiary Center Experience.\",\"authors\":\"Adele Corcione, Luigi Antonio Del Giudice, Simona Basilicata, Mariantonia Maglio, Salvatore Aiello, Raffaele Cerchione, Anna Annunziata, Alessandro Amaddeo, Melissa Borrelli\",\"doi\":\"10.3390/children12091181\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Rett syndrome (RS) is a rare neurodevelopmental disorder primarily affecting females, characterized by severe neurological impairment and complex comorbidities, including epilepsy, scoliosis, and respiratory dysfunction. Respiratory complications, such as recurrent infections and sleep-disordered breathing (SDB), are increasingly recognized as significant contributors to morbidity. This study aimed to evaluate the prevalence, severity, and management of major comorbidities-including epilepsy, scoliosis, respiratory infections, and SDB-in a pediatric cohort with genetically confirmed RS.</p><p><strong>Methods: </strong>We conducted a retrospective review of medical records from 23 female patients under 18 years of age with MECP2 mutations, referred to our tertiary care center from 2021 to 2025. Data on epilepsy, scoliosis, respiratory infections, and nutritional status were collected. The presence of SDB was assessed through overnight home polygraphy (oPG) and transcutaneous carbon dioxide monitoring in selected cases.</p><p><strong>Results: </strong>Epilepsy affected 65% of patients, all with good seizure control. Scoliosis was present in 52%, with two patients requiring spinal surgery. At least one episode of lower respiratory tract infection (LRTI) was presented in 39% of our girls. LRTIs positively correlated with the number of hospitalization and antibiotic treatment. Among patients undergoing oPG, 67% presented obstructive sleep apnea, with its severity positively correlating with the frequency of lower respiratory infections. Severe nocturnal hypercapnia was documented in three patients, leading to non-invasive or invasive ventilation.</p><p><strong>Conclusions: </strong>Our findings highlight the high prevalence of sleep-related respiratory disorders and their association with respiratory infections in children with RS. Systematic respiratory assessment, including sleep studies, and early implementation of airway clearance techniques and ventilatory support are crucial to improving clinical outcomes in this vulnerable population.</p>\",\"PeriodicalId\":48588,\"journal\":{\"name\":\"Children-Basel\",\"volume\":\"12 9\",\"pages\":\"\"},\"PeriodicalIF\":2.1000,\"publicationDate\":\"2025-09-04\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12468077/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Children-Basel\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.3390/children12091181\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Children-Basel","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3390/children12091181","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"PEDIATRICS","Score":null,"Total":0}
Managing Complexity in Rett Syndrome with a Focus on Respiratory Involvement: A Tertiary Center Experience.
Background: Rett syndrome (RS) is a rare neurodevelopmental disorder primarily affecting females, characterized by severe neurological impairment and complex comorbidities, including epilepsy, scoliosis, and respiratory dysfunction. Respiratory complications, such as recurrent infections and sleep-disordered breathing (SDB), are increasingly recognized as significant contributors to morbidity. This study aimed to evaluate the prevalence, severity, and management of major comorbidities-including epilepsy, scoliosis, respiratory infections, and SDB-in a pediatric cohort with genetically confirmed RS.
Methods: We conducted a retrospective review of medical records from 23 female patients under 18 years of age with MECP2 mutations, referred to our tertiary care center from 2021 to 2025. Data on epilepsy, scoliosis, respiratory infections, and nutritional status were collected. The presence of SDB was assessed through overnight home polygraphy (oPG) and transcutaneous carbon dioxide monitoring in selected cases.
Results: Epilepsy affected 65% of patients, all with good seizure control. Scoliosis was present in 52%, with two patients requiring spinal surgery. At least one episode of lower respiratory tract infection (LRTI) was presented in 39% of our girls. LRTIs positively correlated with the number of hospitalization and antibiotic treatment. Among patients undergoing oPG, 67% presented obstructive sleep apnea, with its severity positively correlating with the frequency of lower respiratory infections. Severe nocturnal hypercapnia was documented in three patients, leading to non-invasive or invasive ventilation.
Conclusions: Our findings highlight the high prevalence of sleep-related respiratory disorders and their association with respiratory infections in children with RS. Systematic respiratory assessment, including sleep studies, and early implementation of airway clearance techniques and ventilatory support are crucial to improving clinical outcomes in this vulnerable population.
期刊介绍：
Children is an international, open access journal dedicated to a streamlined, yet scientifically rigorous, dissemination of peer-reviewed science related to childhood health and disease in developed and developing countries.
The publication focuses on sharing clinical, epidemiological and translational science relevant to children’s health. Moreover, the primary goals of the publication are to highlight under‑represented pediatric disciplines, to emphasize interdisciplinary research and to disseminate advances in knowledge in global child health. In addition to original research, the journal publishes expert editorials and commentaries, clinical case reports, and insightful communications reflecting the latest developments in pediatric medicine. By publishing meritorious articles as soon as the editorial review process is completed, rather than at predefined intervals, Children also permits rapid open access sharing of new information, allowing us to reach the broadest audience in the most expedient fashion.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
