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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.
Citation: Junaid M, Downs J, Groza T, Lassmann T, Baker S, et al. The United Nations convention on rare diseases—A framework for research
The primary objective was to determine whether a behaviour change intervention delivered to hospital staff would (1) improve the proportion of Aboriginal and/or Torres Strait Islander (Aboriginal) babies being registered and (2) reduce hospital admissions and emergency presentations for babies <6 months old. The secondary objective was an observational analysis to determine factors that might influence the proportion of registered Aboriginal births in Western Australia.
The purposes of this study were to explore what makes for a "good life" from the perspective of young adults with Down syndrome and to identify the barriers...
We developed recommendations for the clinical management of poor growth and weight gain in Rett syndrome through evidence review and the consensus of an...
Marked increases in maternal age and primiparous births were observed. A four-fold increase in the rates of pre-existing medical complications over time...
The aim of this study was to identify characteristics of epilepsy in Rett syndrome (RTT), and relationships between epilepsy and genotype.
Our results indicate that an increase in the prelabour caesarean delivery rate for private patients in private hospitals has been driving the increase in the...
Despite the rates of low Apgar scores being higher in public patients, the rates of special care admission were lower.
The aim of this study is to review research on the pre-existing characteristics which differentiate mothers of children with ASD and/or ID of unknown cause...