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        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

        Initial assessment of the StepWatch Activity Monitor™ to measure walking activity in Rett syndrome

        In girls and women with Rett syndrome, we assessed the accuracy of the StepWatch Activity Monitor™ and investigated relationships between daily step counts,... ...

        News and events

        Latest news In the media Researchers from the Rio Tinto Children’s Diabetes Centre, a JDRF Global Centre of Excellence, have been awarded funding ...

        Research

        The natural history of the MECP2 Duplication disorder: Australian surveillance and plans for development of an international register

        Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 ...

        Research

        Attention Deficit Hyperactivity Disorder

        Attention deficit hyperactivity disorder (ADHD) is the most commonly diagnosed childhood mental health disorder, affecting about 1 in 20 children. It can impact their behaviour, learning and social skills. ...

        Research

        Characterising the Early Presentation of Motor Difficulties in Autistic Children

        This study aimed to explore the rates of motor difficulties in children from the Australian Autism Biobank, and how early motor concerns impacted on children functionally. ...

        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

        What effect does regular exercise have on oxidative stress in people with Down syndrome? A systematic review with meta-analyses

        There remains uncertainty about the effect of exercise on oxidative stress in people with Down syndrome ...

        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

        International CDKL5 Disorder Database

        Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 ...

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