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        229-240 of 492 results for 'CDKL5'

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        Research

        Diagnosis of Autism Spectrum Disorder According to Maternal-Race Ethnicity and Country of Birth: A Register-Based Study

        An increased prevalence of autism spectrum disorder (ASD) among children of immigrant backgrounds has been observed ...

        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

        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

        Bone mineral content and density in Rett syndrome and their contributing factors

        This study used densitometry to investigate the areal bone mineral density (aBMD) and bone mineral content (BMC) in an Australian Rett syndrome cohort... ...

        Research

        Variation over time in medical conditions and health service utilization of children with Down syndrome

        Variation over time in medical conditions and health service utilization of children with Down syndrome. ...

        Research

        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

        InterRett, a model for international data collection in a rare genetic disorder

        This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian... ...

        Research

        Feeding experiences and growth status in a Rett syndrome population

        Feeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the... ...

        Research

        Parent Carer Quality of Life and Night-Time Attendance in Non-Ambulant Youth with Neuromuscular Disorders

        To describe and explore carer quality of life and night-time attendance to their child in parents of non-ambulant youth with Neuromuscular Disorders. A cross-sectional population-based, comprehensive survey including the Adult Carer questionnaire, measures of social context and youths' physical status. Associations between carer-QoL or frequency of parents' night-time attendance with independent variables were explored using linear and logistic regression models, respectively. ...

        Research

        Rett Syndrome: Revised diagnostic criteria and nomenclature

        The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials. ...

        Research

        Mental wellbeing in non-ambulant youth with neuromuscular disorders: What makes the difference?

        Mental wellbeing was independently associated with academic achievement and perceived family support but not with physical health variables ...

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