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Showing results for "early lung health"

Medical Comorbidities in MECP2 Duplication Syndrome: Results from the International MECP2 Duplication Database

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).

CDKL5 variants: Improving our understanding of a rare neurologic disorder

Providing new insights into the interpretation of genetic variants in a rare neurologi disorder, in the contexts of population sequencing data.

Functional abilities in children and adults with the CDKL5 disorder

Although abilities were markedly impaired for the majority with the CDKL5 disorder, some females and a few males had better functional abilities

Initial assessment of the StepWatch Activity Monitor™ to measure walking activity 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,...

Tips for talking to your teenager about drinking before Leavers Week

As thousands of West Australian school leavers pack their bags for a week of celebration to mark the end of their school journey this weekend, it can be an anxious time for parents.

Addressing challenges in gaining informed consent for a research study investigating falls in people with intellectual disability

This study describes how an informed consent process was developed for people with intellectual disability and how it is working in a current study

Plasmacytoid dendritic cells protect from viral bronchiolitis and asthma through semaphorin 4a-mediated T reg expansion

We found transient pDC depletion during Pneumovirus infection alone predisposed to severe bronchiolitis in early life and subsequent asthma after reinfection.

Every day counts in the classroom

A recent study from The Kids Research Institute Australia has revealed some interesting facts about just how important those school attendance days are.