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        171-180 of 529 results for 'CDKL5''

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        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

        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... ...

        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

        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

        FDA Patient-Focused Drug Development Guidances: Considerations for Trial Readiness in Rare Developmental and Epileptic Encephalopathies

        Developmental and epileptic encephalopathies (DEE) are rare, often monogenic neurodevelopmental conditions. Most affected individuals have refractory seizures. All have multiple severe impairments which can be as life-limiting as or more limiting than the seizures themselves. Mechanism- and gene-targeted therapies for these individually rare, genetic conditions hold hope for treatment, amelioration of disease expression, and even cure.  ...

        Research

        The International Collaboration for Autism Registry Epidemiology (iCARE): Multinational Registry-Based Investigations of Autism Risk Factors and Trends

        iCARE provides a unique, unprecedented resource in autism research that will significantly enhance the ability to detect environmental and genetic... ...

        Research

        The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot study

        This study assessed the functional skills of three girls with RTT aged 35 years before and during participation in a CE programme. ...

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