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Showing results for "Neuromuscular disorders "
The restricted genetic diversity and homogeneous molecular basis of Mendelian disorders in isolated founder populations have rarely been explored in epilepsy...
Eating disorders (EDs) are increasingly recognised among neurodivergent and transgender and gender diverse (TGD) individuals, yet most assessment and treatment models remain grounded in cisnormative and neuronormative assumptions and frameworks. Sensory processing, spanning interoception and exteroception, has been proposed as a potential factor that may help explain observed associations between neurodivergent traits, gender incongruence, and EDs.
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We investigated whether children who are heavier at birth have an increased risk of type 1 diabetes
Heart Rate Variability was found to be lower in the bipolar and depression groups, compared with control subjects
Senior Research Officer
Parents and carers were asked about the quality of services, need for services and whether their children received the needed service, as well as barriers.
Developmental and epileptic encephalopathies (DEE) are rare, often monogenic neurodevelopmental conditions. Most affected individuals have refractory seizures. All have multiple severe impairments which can be as life-limiting as or more limiting than the seizures themselves. Mechanism- and gene-targeted therapies for these individually rare, genetic conditions hold hope for treatment, amelioration of disease expression, and even cure.
Cystic fibrosis (CF) is the most common chronic, life-shortening genetic condition affecting young Australians. There is no cure but researchers are working to prevent the onset of lung disease.
Children with intellectual disabilities are more likely to experience sleep disorders of insomnia, excessive daytime sleepiness and sleep breathing disorders than typically developing children. The present study examined risk factors for these sleep disorders in 447 children (aged 5-18 years), diagnosed with an intellectual disability and comorbid autism spectrum disorder, cerebral palsy, Down syndrome or Rett syndrome. Primary caregivers reported on their child's sleep using the Sleep Disturbance Scale for Children (SDSC), as well as medical comorbidities and functional abilities.