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        181-190 of 528 results for 'CDKL5'

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        Research

        Linking MECP2 and pain sensitivity: the example of Rett syndrome

        This study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations. ...

        Research

        Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders

        This study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome ...

        Research

        "The problem with running"-Comparing the propulsion strategy of children with Developmental Coordination Disorder and typically developing children

        Children with Developmental Coordination Disorder (DCD) often have difficulties running. ...

        Research

        The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

        Rett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2). ...

        Research

        Investigating genotype-phenotype relationships in Rett syndrome using an international data set

        This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in... ...

        Research

        Factors associated with dental hospitalisations in children with intellectual disability or autism spectrum disorder: a Western Australian population-based retrospective cohort study

        This study investigated dental hospitalisations in Western Australian (WA) children with intellectual disability (ID) and/or autism spectrum disorder (ASD) aged up to 18 years. ...

        Research

        Strengths and challenging behaviors in children and adolescents with Prader-Willi syndrome: Two sides to the coin

        Prader-Willi Syndrome (PWS) is a rare genetic disorder associated with emotional/behavioral disturbances. These difficulties are well documented in the literature, but the positive attributes of these individuals are not described. ...

        Research

        Patient-advocate-led global coalition adapting fit-for-purpose outcomes measures to assure meaningful inclusion of DEEs in clinical trials

        Existing clinical tools that measure non-seizure outcomes lack the range and granularity needed to capture skills in developmental and epileptic encephalopathy (DEE)-affected individuals who also fall in the severe to profound range of intellectual disability. This effectively excludes those with severe impairments from clinical trials, impeding the ability of sponsors to evaluate disease-modifying therapies. ...

        Research

        Dental admissions in children under two years - A total-population investigation

        This paper describes dental and oral cavity admissions and associated factors in children under two years of age using total-population databases. ...

        Research

        Health care utilization and costs for children and adults with duchenne muscular dystrophy

        The annual economic cost of DMD was found to be high, reflecting a significant socioeconomic burden, especially in boys who reach adulthood ...

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