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        181-192 of 492 results for 'CDKL5'

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        Choice making in Rett syndrome: a descriptive study using video data

        We describe the choice-making abilities of girls and women with Rett syndrome. ...

        Research

        Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices

        Attention to sleep hygiene remains an important management strategy for sleep problems in Rett syndrome ...

        Research

        Barriers to diagnosis of a rare neurological disorder in China-Lived experiences of Rett syndrome families

        Fourteen of 74 Chinese families known to the International Rett Syndrome Phenotype Database participated in this qualitative study. ...

        Research

        Transition to adulthood for young people with intellectual disability: the experiences of their families

        A number of themes emerged from the qualitative data which included parents' views and concerns about the capacity of their young adult to adapt and change to life in adulthood ...

        Research

        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

        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 ...

        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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