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Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?These cases, both without seizures but with apparent behavioral symptomatology, together question whether seizures are mandatory in this disorder
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Incidence and prevalence of falls in adults with intellectual disability living in the community: a systematic reviewSynthesized findings demonstrate that people with intellectual disability, who live in community or residential settings, may fall more frequently, and at a younger age
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The contributions of fetal growth restriction and gestational age to developmental outcomes at 12 months of age: A cohort studyDevelopmental assessment of infants with fetal growth restriction was mostly comparable to those born without fetal growth restriction at 12 months
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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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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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Cerebral palsy: EpidemiologyCerebral palsy (CP) is a lifelong physical disability, resulting from maldevelopment or damage to the developing brain. All children with CP have a disorder of movement and posture, but this is often accompanied by disorders of intellect, sensation, behaviour and epilepsy. Long-standing CP registers and surveillance systems estimate the prevalence of CP as approximately 2 per 1000 live births; however variations are seen over time and in different regions of the world.
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Improving the Journey Before, During and After Diagnosis of a Neurodevelopmental Condition: Suggestions from a Sample of Australian Consumers and ProfessionalsThe current study used a transdiagnostic approach to explore experiences of consumers and professionals on how the process of assessing and diagnosing neurodevelopmental conditions can be improved.