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Research

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

Research

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).

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Our findings suggest that some opportunities do exist for clinicians to help optimise parental well-being

Research

This review provides the first comprehensive overview of the potential role for cannabis based preparations in the treatment of CDKL5 Deficiency Disorder

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Adolescents with Type 1 diabetes (T1D) often need to undertake self-management tasks in public or disclose their diagnosis to others. Therefore, they may be subjected to negative reactions from the public, known as enacted stigma.

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This study aimed to explore relationships between family quality of life, day occupations and activities of daily living of young persons with Down syndrome.

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This study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate...

Research

Findings provide preliminary evidence that early psychosis is associated with reduced heart rate variability

Research

Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763

Research

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