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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
To describe health-related quality of life of Australian children and adolescents with Down syndrome and compare it with norm-referenced data.
Providing new insights into the interpretation of genetic variants in a rare neurologi disorder, in the contexts of population sequencing data.
This study used qualitative methods to investigate the regaining of mobility in 12 months following fractures in Rett syndrome and parent caregiver experiences.
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,...
Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763
Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763