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        193-204 of 492 results for 'CDKL5'

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        Environmental enrichment intervention for Rett syndrome: An individually randomised stepped wedge trial

        We investigated the effects of environmental enrichment on gross motor skills and blood BDNF levels in girls with Rett syndrome. ...

        Research

        Spinal fusion in girls with Rett syndrome: Post-operative recovery and family experiences

        Rett syndrome is a severe neurodevelopmental disorder mainly affecting females and scoliosis is a common co-morbidity. Spinal fusion may be recommended if... ...

        Research

        Initial assessment of the StepWatch Activity Monitor™ to measure walking activity in Rett syndrome

        In girls and women with Rett syndrome, we assessed the accuracy of the StepWatch Activity Monitor™ and investigated relationships between daily step counts,... ...

        Research

        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). ...

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        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

        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. ...

        Research

        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 ...

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