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Research
Quantitative and qualitative insights into the experiences of children with Rett syndrome and their familiesEarly presentation of Rett syndrome, including regression and challenges for families seeking a diagnosis
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Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndromeThis study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome.
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Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndromeHigh levels of sedentary time and low daily step counts in a Danish population of females with Rett syndrome
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Addressing challenges in gaining informed consent for a research study investigating falls in people with intellectual disabilityThis study describes how an informed consent process was developed for people with intellectual disability and how it is working in a current study
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Respiratory morbidity in Rett syndrome: An observational studyRett syndrome is associated with increased vulnerability to lower respiratory tract infection requiring hospitalization
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Risk of stillbirth, preterm delivery, and fetal growth restriction following exposure in a previous birth: Systematic review and meta-analysisNonrecurrent risk of stillbirth, Preterm birth, and small for gestational age after exposure to one or more of these complications in a previous pregnancy
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Caesarean section and risk of autism across gestational age: a multi-national cohort study of 5 million birthsThe positive association between caesarean section (CS) and autism spectrum disorder (ASD) may be attributed to preterm delivery.
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Expanding the clinical picture of the MECP2 Duplication syndromePeople with two or more copies of MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype called MECP2 Duplication syndrome.
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Twenty-Five Year Survival of Children with Intellectual Disability in Western AustraliaTo investigate survival up to early adulthood for children with intellectual disability and compare their risk of mortality with that of children without intellectual disability.
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Trends in pre-existing mental health disorders among parents of infants born in Western Australia from 1990 to 2005From 1990 to 2005, there was an increase in prevalence of parents with a prior history of mental health disorders in WA.