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        217-228 of 493 results for 'CDKL5''

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        Correlation between clinical severity in patients with Rett syndrome

        Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene. ...

        Research

        Modelling quality of life in children with intellectual disability using regression trees

        To identify factors associated with quality of life (QoL) in children with intellectual disability. We aimed to identify patterns of association not observable in previous hypothesis-driven regression modelling using the same data set from a cross-sectional observational study. ...

        Research

        The effect of functioning on Quality of Life Inventory-Disability measured quality of life is not mediated or moderated by parental psychological distress

        The measurement of quality of life (QOL) in children with intellectual disability often relies upon proxy report via caregivers. The current study investigated whether caregiver psychological distress mediates or moderates the effects of impairment on their ratings of QOL in children with intellectual disability. ...

        Research

        Can Wearable Inertial Measurement Units Be Used to Measure Sleep Biomechanics? Establishing Initial Feasibility and Validity

        Wearable motion sensors, specifically, Inertial Measurement Units, are useful tools for the assessment of orientation and movement during sleep. The DOTs platform (Xsens, Enschede, The Netherlands) has shown promise for this purpose. This pilot study aimed to assess its feasibility and validity for recording sleep biomechanics. ...

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        Using a trauma informed practice framework to enhance understanding of and identify support strategies for behavioural difficulties in young people with Prader-Willi syndrome

        Behavioural support for young people with Prader-Willi syndrome (PWS) is necessary in home and school environments. The Trauma Informed Practice (TIP) framework has been used to support young people with complex behavioural needs in school settings. To identify parent and professional perspectives on behavioural challenges experienced by young people with PWS and strategies for supports, to inform understanding of how they are aligned with the TIP framework. ...

        Research

        Facilitators and Barriers of Participation in “Uptime” Activities in Girls and Women With Rett Syndrome: Perspectives From Parents and Professionals

        This study explored facilitators and barriers to "uptime" (non-sedentary) activities in Danish girls and women with Rett syndrome ...

        Research

        Orthopaedic issues in Rett Syndrome

        This chapter reviews the prevalence, characteristics, and clinical management of orthopedic problems in RTT. ...

        Research

        Community participation: Conversations with parent-Carers of young women with Rett syndrome

        In this paper, the issue of people with profound intellectual and multiple disabilities facing significant challenges to participating in their community is... ...

        Research

        Evaluating the Extent of Clinical Uncertainty Among Treatment Options for Patients with Early-Onset Scoliosis

        The objective of this study was to evaluate areas of clinical uncertainty among pediatric spine surgeons regarding the treatment of early-onset scoliosis. ...

        Research

        Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

        Epilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous males. ...

        Research

        Rare childhood diseases: how should we respond?

        Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services,... ...

        Research

        The diagnosis of autism in a female: could it be Rett syndrome?

        The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether... ...

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