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Showing results for "Neuromuscular disorders "
Validated measures capable of demonstrating meaningful interventional change in the CDKL5 deficiency disorder (CDD) are lacking. The study objective was to modify the Rett Syndrome Gross Motor Scale (RSGMS) and evaluate its psychometric properties for individuals with CDD.
CDKL5 Deficiency Disorder (CDD) is a severe X-linked developmental and epileptic encephalopathy. Existing developmental outcome measures have floor effects and cannot capture incremental changes in symptoms. We modified the caregiver portion of a CDD clinical severity assessment (CCSA) and assessed content and response-process validity.
Our AussieRett team recently visited Melbourne, Australia for the IASSIDD 15th World Congress.
We report two rare genetic aberrations in a schizophrenia patient that may act together to confer disease susceptibility
Prevention approaches specific to prenatal alcohol exposure (PAE) and foetal alcohol spectrum disorder (FASD) have been identified as urgently needed in Australia, including in Aboriginal and Torres Strait Islander communities. However, very little work has aimed to describe and evaluate health promotion initiatives, especially those developed in rural and remote areas.
This study aimed to determine if the rate of identification of young people at ultra-high risk for psychosis was associated with the level of social deprivation
Preliminary research has found evidence to suggest alexithymia acts as a risk factor for the development of psychopathology symptoms, due to its impairing role on emotion regulation ability. Eating disorder symptoms have been extensively linked to high levels of alexithymia and emotion regulation difficulties, yet little is known about the precise mechanisms behind these interactions.
Identifying modifiable risk factors associated with childhood stunting in sub-Saharan Africa (SSA) is imperative for the development of evidence-based interventions and to achieve the Sustainable Development Goals. The objective was to evaluate key modifiable risk factors associated with childhood stunting in SSA.
Post-doctoral Researcher
Research Assistant; PhD Candidate