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Our study suggests that vagus nerve stimulation is a generally safe and effective adjunct treatment for CDKL5-associated epilepsy
There remains uncertainty about the effect of exercise on oxidative stress in people with Down syndrome
Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763
MECP2 duplication syndrome (MDS) is an ultrarare, X-linked neurodevelopmental disorder that is poorly understood in terms of its natural history and phenotypic variability. There is limited information on how individuals with MDS acquire, retain or lose fundamental functional skills (gross motor, purposeful hand function and communication) - that of which this study aimed to better characterise in the largest case series to date.
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).
Providing new insights into the interpretation of genetic variants in a rare neurologi disorder, in the contexts of population sequencing data.
Although abilities were markedly impaired for the majority with the CDKL5 disorder, some females and a few males had better functional abilities
There were differences in the presentation of clinical features occurring in the CDKL5 disorder and 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,...
A child's ability to communicate is one of their most important developmental achievements. It builds a foundation for everything that is to come.