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Research
Measurement of Sedentary Behaviors or "downtime" in Rett SyndromeThis study aimed to validate measures of sedentary time in individuals with Rett syndrome.
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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesSystematic sequencing of all X-chromosomal genes in patients with genetic evidence for X-chromosome locus involvement may resolve 58% of Fragile X-negative cases
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Intellectual disability and other neuropsychiatric outcomes in high-risk children of mothers with schizophrenia, bipolar disorder and unipolar major depressionWe examined risk of intellectual disability and other neuropsychiatric outcomes in children of mothers with and without schizophrenia, bipolar or depression.
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Evaluation of the processes of family-centred care for young children with intellectual disability in Western AustraliaGovernment early intervention services for children with intellectual disability (ID) in Western Australia have adopted the model of family-centred care.
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International trends of Down syndrome 1993-2004: Births in relation to maternal age and terminations of pregnanciesThe aim of this study was to examine trends of Down syndrome (DS) in relation to maternal age and termination of pregnancies (ToP) in 20 registries
While individual diseases are rare, as a group, rare diseases are common. Recent estimates suggest that between 3% and 6% of the world’s population are affected by rare disease.
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Pregnancy and birth outcomes of mothers with intellectual disability and their infants: Advocacy needed to improve well-beingFor mothers with intellectual disability, modifiable risk factors for adverse outcomes need addressing
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Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of lifeInvestigate impacts on maternal health and family quality of life in families with a child with the CDKL5 disorder
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Feasibility of assessing diet with a mobile food record for adolescents and young adults with down syndromeThe aim was to assess the feasibility of assessing diet with an image-based mobile food record application in 51 adolescents and young adults with Down syndrome.
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Validation of intellectual disability coding through hospital morbidity records using an intellectual disability population-based database in Western AustraliaTo investigate how well intellectual disability (ID) can be ascertained using hospital morbidity data compared with a population-based data source.