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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
This study aimed to identify the quality of life domains important for individuals with CDKL5 deficiency disorder
Although abilities were markedly impaired for the majority with the CDKL5 disorder, some females and a few males had better functional abilities
In girls and women with Rett syndrome, we assessed the accuracy of the StepWatch Activity Monitor™ and investigated relationships between daily step counts,...
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.
There is accumulating evidence for a link between maternal stress during pregnancy and later behavioural and emotional problems in children.
Language is one of the most remarkable developmental accomplishments of early childhood. Language connects us with others and is an essential tool for literacy, education, employment and lifelong learning.
Rett syndrome is associated with increased vulnerability to lower respiratory tract infection requiring hospitalization
Quantifying individual's with Rett syndrome with the ability to walk, walking based activities and sedentary time, analyzing a variety of influences.