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        217-228 of 492 results for 'CDKL5'

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        Medical Comorbidities in MECP2 Duplication Syndrome: Results from the International MECP2 Duplication Database

        Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase). ...

        Research

        Requirements for improving health and well-being of children with Prader-Willi syndrome and their families

        Prader-Willi syndrome (PWS) is a rare genetic condition with multi-system involvement ...

        Research

        Longitudinal effects of caregiving on parental well-being: the example of Rett syndrome, a severe neurological disorder

        Our findings suggest that some opportunities do exist for clinicians to help optimise parental well-being ...

        Research

        Diagnosis of Autism Spectrum Disorder According to Maternal-Race Ethnicity and Country of Birth: A Register-Based Study

        An increased prevalence of autism spectrum disorder (ASD) among children of immigrant backgrounds has been observed ...

        Research

        Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophy

        This study used qualitative methods to explore how adolescents with Duchenne muscular dystrophy used a powered wheelchair standing device in their daily lives ...

        Research

        Onset of maternal psychiatric disorders after the birth of a child with autism spectrum disorder: A retrospective cohort study

        Mothers of a child with autism spectrum disorder have more psychiatric disorders after the birth of their child. ...

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        How can clinical ethics guide the management of comorbidities in the child with Rett syndrome?

        This paper reviews the disorder Rett syndrome and evidence for the management of scoliosis and poor growth within a clinical ethics framework ...

        Research

        Quantitative and qualitative insights into the experiences of children with Rett syndrome and their families

        Early presentation of Rett syndrome, including regression and challenges for families seeking a diagnosis ...

        Research

        Expanding the clinical picture of the MECP2 Duplication syndrome

        People 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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        Respiratory morbidity in Rett syndrome: An observational study

        Rett syndrome is associated with increased vulnerability to lower respiratory tract infection requiring hospitalization ...

        Research

        Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome

        High levels of sedentary time and low daily step counts in a Danish population of females with Rett syndrome ...

        Research

        Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome

        This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and... ...

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