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        169-180 of 390 results for 'rett syndrome'

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        Brief Report: Burden of Care in Mothers of Children with Autism Spectrum Disorder or Intellectual Disability

        Mothers of children with autism spectrum disorder or intellectual disability have higher rates of treatment episodes for psychiatric disorders ...

        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). ...

        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

        Severity Assessment in CDKL5 Deficiency Disorder

        A severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials. ...

        Research

        It's not what you were expecting, but it's still a beautiful journey: The experience of mothers of children with Down syndrome

        The purpose of this study was to describe qualitatively the experience of parenting for mothers of a child with Down syndrome and to explore spirituality. ...

        Research

        Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study

        Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neurodevelopmental delays, hyperphagia, difficulties with social communication and challenging behaviours. Individuals require intensive supervision from caregivers which may negatively affect caregiver quality of life. This study used data collected in the Australasian PWS Registry to evaluate associations between child behaviours and caregiver mental well-being. ...

        Research

        Adapting a measure of gross motor skills for individuals with CDKL5 deficiency disorder: A psychometric study

        Validated measures capable of demonstrating meaningful interventional change in the CDKL5 deficiency disorder (CDD) are lacking. The study objective was to modify the Rett Syndrome Gross Motor Scale (RSGMS) and evaluate its psychometric properties for individuals with CDD. ...

        Research

        Content Validation of Clinician-Reported Items for a Severity Measure for CDKL5 Deficiency Disorder

        CDKL5 deficiency disorder (CDD) results in early-onset seizures and severe developmental impairments. A CDD clinical severity assessment (CCSA) was previously developed with clinician and parent-report items to capture information on a range of domains. ...

        Research

        Functional abilities in children and adults with the CDKL5 disorder

        Although abilities were markedly impaired for the majority with the CDKL5 disorder, some females and a few males had better functional abilities ...

        Research

        Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder

        Our study suggests that vagus nerve stimulation is a generally safe and effective adjunct treatment for CDKL5-associated epilepsy ...

        Research

        Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder

        In view of its side effect profile, ketogenic diet (KD) administration should be supervised by a pediatric neurologist and specialist dietician. ...

        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 ...

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