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Valproate and risk of fracture in Rett syndromeThis study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome.
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Early determinants of fractures in Rett syndromeThe goals were to compare the fracture incidence in Rett syndrome with that in the general population and to investigate the impact of genotype, epilepsy,...
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Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2Rett 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...
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Characterising quality of life and its determinants for children with intellectual disability and their familiesAndrew Helen Jenny Peter Videos Whitehouse Watch and listen to Andrew Leonard Downs Jacoby PhD MBChB MPH BApplSci (physio) MSc PhD BA (Hons) MSc
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IDEA (Intellectual Disability Exploring Answers) DatabaseThe IDEA database has information on all children born in Western Australia since 1983 who have been identified with an intellectual disability. IDEA is one of the only population-based resources in the world dedicated to intellectual disability. Information is accessed from the Department of Communities WA, the WA Department of Education, and the National Disability Insurance Agency (NDIA) to create the database. From IDEA, it has been found that one in 50 children in Australia are diagnosed with intellectual disability. Additionally, individuals with autism spectrum disorder, both with and without intellectual disability, are also identified in the database and we have found a similar number of one in 50 are diagnosed with autism. IDEA can be linked by Data Services WA with other datasets, to facilitate research into the determinants, outcomes and service needs of children and adults with intellectual disability.
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Are assisted reproductive technology pregnancies more likely to be exposed to teratogenic medication? A whole-population studyAssisted reproductive technology (ART) pregnancies are at greater risk of birth defects than non-ART pregnancies. Teratogenic medication exposure is a potential cause of birth defects that has not been compared between ART and non-ART pregnancies.
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Using Focussed Ethnography to Observe and Understand the Actions and Interactions of People With Prader-Willi Syndrome When They Exercise at a Community Gym: A ProtocolExercise for people with Prader-Willi syndrome (PWS) is important for their health and wellbeing and can provide opportunities for community participation. However, they may find it difficult to participate in some contexts, such as community gyms because social and environmental barriers in these settings may compound difficulties caused by physical impairments or intellectual disability.
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Caregiver Perspective of Benefits and Side Effects of Anti-Seizure Medications in CDKL5 Deficiency Disorder from an International DatabaseCDKL5 deficiency disorder presents as a challenging condition with early-onset refractory seizures, severe developmental delays, and a range of other neurological symptoms. Our study aimed to explore the benefits and side effects of anti-seizure medications in managing seizures among individuals with CDKL5 deficiency disorder, drawing on data from the International CDKL5 Disorder Database.
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Self-Reported Traumatic Brain Injury and Its Biopsychosocial Risk Factors in Siblings of Individuals with Neurodevelopmental ConditionsSiblings of individuals with neurodevelopmental conditions are situated within a complex system of risk and resilience factors for poor outcomes, many of which overlap with the risk of traumatic brain injury and correlate with poorer recovery trajectories.