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Showing results for "Neuromuscular disorders "
A severe neurodevelopmental disorder mostly affecting girls.
These project websites display extended detailed information about specific research areas.
In this blog, you can read about one of the most common tools used in the autism diagnostic process – the Autism Diagnostic Observation Schedule.
This paper discusses changes in diagnostic criteria, decreasing age at diagnosis, improved case ascertainment, diagnostic substitution, and social influences.
As WA's first research collaboration dedicated to mental health, we work to do the research that the community wants to see happen.
We have recently developed recommendations to support clinical practice for gastro-intestinal disorders including growth and scoliosis in Rett syndrome.
Language disorder is highly prevalent in youth justice; however, orofacial, oromotor, speech, and voice anomalies have been largely overlooked. There has been some documentation of these among individuals with prenatal alcohol exposure (PAE), and adolescents with PAE are over-represented in youth justice.
Mitochondrial energy metabolism plays an important role in the pathophysiology of insulin resistance. Recently, a missense N437S variant was identified in the MRPP3 gene, which encodes a mitochondrial RNA processing enzyme within the RNase P complex, with predicted impact on metabolism. We used CRISPR-Cas9 genome editing to introduce this variant into the mouse Mrpp3 gene and show that the variant causes insulin resistance on a high-fat diet.
This study aimed to explore current attitudes towards sun protection, and sun-seeking behaviour among young Australian adolescents. It was done as part of a larger project aiming to develop a digital resource to support young people in making informed sun-health decisions.
Research focused on Down syndrome has increased in the last several years to advance understanding of the consequences of trisomy 21 (T21) on molecular and cellular processes and, ultimately, on individuals with Down syndrome. The Trisomy 21 Research Society (T21RS) is the premier scientific organization for researchers and clinicians studying Down syndrome.