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Critical mass in rare diseases - an innovative internet approachThe internet is emerging as a valuable tool for scientists to gather data for critical research into rare diseases.
Research
Building Out Bullying: The influence of the school environment on bullying behaviour and mental health in primary and secondary school studentsThe Building Out Bullying project is funded by Healthway and aims to generate policy-relevant evidence, system-level guidelines, and school-based interventions to improve the bullying behaviour and mental health of children attending primary and secondary school in Western Australia.
Affecting approximately 400 people in Australia, Rett syndrome is a rare neurological disorder that occurs almost exclusively in girls and affects mobility and development, impacting everything from walking and talking to eating and breathing.
Research
#Parentingtips: A Descriptive Study of Information for Parents on TikTokParents and caregivers often turn to the internet for information about their child's health and development. Research investigating content related to parenting on the world's most popular social media platform, TikTok, has not been conducted.
Research
What I Wish I Had Known: Examining Parent Accounts of Managing the Health of Their Child With Intellectual DisabilityAppropriate support for the health of children with an intellectual disability by parents and healthcare professionals is pivotal, given the high risk of chronic conditions. However, there is limited research that has collected important insights from parents on their learnings for supporting their child's evolving healthcare needs.
Research
Efficacy of Health Literacy Interventions for Caregivers of Individuals with Neurodevelopmental and Chronic Conditions: A Rapid ReviewCaregivers of individuals with neurodevelopmental and chronic health conditions require health literacy (HL) skills for the long-term management of these conditions. The aim of this rapid review was to investigate the efficacy of HL interventions for these caregivers.
Research
Evaluation of Pediatric HIV Postexposure Prophylaxis Guideline Following Child Sexual Assault in Western AustraliaHIV postexposure prophylaxis (PEP) following child sexual assault (CSA) is recommended in select cases. High rates of poor adherence to PEP are reported. We evaluated adherence to the recommended management of children following CSA at the tertiary pediatric facility in Western Australia and compared our approach with international guidelines.
Research
Perspectives on the essential skills of healthcare decision making in children and adolescents with intellectual disabilityInvolvement in healthcare decisions is associated with better health outcomes for patients. For children and adolescents with intellectual disability, parents and healthcare professionals need to balance listening to a child's wishes with the responsibility of keeping them safe.
Research
Perspectives of LGBTQA+ young people on suicide prevention services in AustraliaLGBTQA + people are less likely to access mental health care despite an increased risk of adverse mental health outcomes including suicidal thoughts and behaviours. The present study aimed to explore Australian LGBTQA + young people's perceptions of key factors associated with access to suicide prevention services.
Research
CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural inductionAn estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered.