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        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

        Epidemiology of craniofacial anomalies and association with intellectual disabilities in Western Australia: A population based study

        Helen Mohammed Leonard Junaid HM MJ MBChB MPH BDS, MDS, MFDS RCPS (Glasg.), DDPH RCS (Eng) Principal Research Fellow Research Officer +61 419 956 ...

        Research

        Mothers with intellectual disability and their children in Western Australia

        Helen Leonard HM MBChB MPH Principal Research Fellow +61 419 956 946 helen.leonard@telethonkids.org.au Principal Research Fellow Areas of research ...

        Research

        Australian children living with rare diseases: health service use and barriers to accessing care

        Children with rare diseases experience challenges at home and school and frequently require multi-disciplinary healthcare. We aimed to determine health service utilization by Australian children with rare diseases and barriers to accessing healthcare. ...

        Research

        Women Diagnosed with Ovarian Cancer: Patient and Carer Experiences and Perspectives

        By directly engaging with women diagnosed with ovarian cancer, this study aimed to explore and identify their view of the health symptoms and outcomes that matter most to them as they traverse their disease pathway. ...

        Research

        Pre-existing differences in mothers of children with Autism Spectrum disorder and/or intellectual disability: A review

        The aim of this study is to review research on the pre-existing characteristics which differentiate mothers of children with ASD and/or ID of unknown cause... ...

        Research

        Maternal Race-Ethnicity, Immigrant Status, Country of Birth, and the Odds of a Child With Autism

        In this study, we used 134 204 mother population to examine the odds of ASD with intellectual disability in children from 1994 to 2005 with these features ...

        Research

        The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children

        MECP2 duplication syndrome is a rare but important diagnosis in children because of the burden of respiratory illness and recurrence risk ...

        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

        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. ...

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