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Showing results for "early lung health"
Our research covers a broad range of areas from the influence of mutation type on health outcomes to factors impacting on the lives of familes.
Find out about the research outputs for the Development Pathways Project, and see the published research outcomes.
MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents.
The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease progression, therapeutic endpoints and outcome measures for clinical trials, as well as the development of therapies and orphan products.
Attention to sleep hygiene remains an important management strategy for sleep problems in Rett syndrome
We describe the choice-making abilities of girls and women with Rett syndrome.
We investigated the effects of environmental enrichment on gross motor skills and blood BDNF levels in girls with Rett syndrome.
This study aimed to determine measurement properties of a modified 2MWT and a modified Rett syndrome-specific FMS-RS in Rett syndrome.
Quantifying individual's with Rett syndrome with the ability to walk, walking based activities and sedentary time, analyzing a variety of influences.
Epilepsy is pervasive but not mandatory for the CDKL5 disorder, and genotype and functional abilities were related to seizure frequency