162 Long-Term Cardio-Respiratory Regulation in Children with Rett Syndrome
نویسندگان
چکیده
منابع مشابه
Long-Term Follow-Up of Rett Syndrome
Rett syndrome is a neurodevelopmental disorder that occurs worldwide and predominantly affects girls. The MECP2 gene has been put forward as the underlying gene. Interestingly, other clinical presentations in addition to Rett syndrome have been reported to be the results of deviations in MECP2. This prompted us to outline a working hypothesis of how these diverse phenotypes are connected. Our a...
متن کاملRett syndrome and long-term disorder profile.
In a cohort of 103 females clinically diagnosed with Rett syndrome (RTT), 91 had a detectable MECP2 mutation. Emphasis on details of natural history facilitated grouping of females with the same MECP2 mutation and the development of so-called disorder profiles. Some examples of disorder profiles of different recurrent MECP2 mutations are discussed. RTT females with the frequently recurrent R133...
متن کاملGait Initiation in Children with Rett Syndrome
Rett syndrome is an X-linked neurodevelopmental condition mainly characterized by loss of spoken language and a regression of purposeful hand use, with the development of distinctive hand stereotypies, and gait abnormalities. Gait initiation is the transition from quiet stance to steady-state condition of walking. The associated motor program seems to be centrally mediated and includes preparat...
متن کاملClinical Characteristics of Children with Rett Syndrome
OBJECTIVE To identify the clinical characteristics and investigate function related aspects of Korean children with Rett syndrome. METHOD A total of 26 patients diagnosed as Rett syndrome were clinically observed until the age of five or over. We surveyed past history, developmental history, and presence of typical clinical features of Rett syndrome. Furthermore, we investigated differences i...
متن کاملDescription of Respiratory Microbiology of Children With Long-Term Tracheostomies.
BACKGROUND There is little evidence in the medical literature to guide empiric treatment of pediatric patients with long-term tracheostomies who present with signs and symptoms of a bacterial respiratory infection. The overall goal of this study was to describe the respiratory microbiology in this study population at our institution. METHODS This study was a retrospective chart review of all ...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 2010
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-201011001-00162