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Showing results for "Neuromuscular disorders "
Information on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a...
Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...
MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...
Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic...
A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).
To analyze the incidence of type 1 diabetes in 0- to 14-year olds in Western Australia, from 1985 to 2002, by region and socioeconomic status.
One in three children in WA suffer iron deficiency leading to poor sleep, fussy eating, and behavioural difficulties. This project aims to develop mechanisms to prevent and treat the problems before they become clinically significant and translate findings to other communities to improve childhood wellness.
In this new blog, Senior Speech Pathologist Marisa Di Lorenzo discusses Augmentative and Alternative Communication and how it supports every individual’s access to the basic right of communication.
Word cloud of topics that young people identified as their biggest mental health concerns.
New research has uncovered how adolescents experience high levels of dissociation symptoms.