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Research
The triple challenges associated with age-related comorbidities in Down syndromeMajor increases in the survival of people with Down syndrome during the last two generations have resulted in extended periods of adulthood requiring...
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Community participation for girls and women living with Rett syndromeParticipation for girls and women with Rett syndrome could be enhanced by stronger local community supports.
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Family functioning in families with a child with Down syndrome: A mixed methods approachThis study aimed to explore the factors that predict functioning in families with a child with Down syndrome using a mixed methods design.
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Influence of the environment on participation in social roles for young adults with down syndromeThe purpose of this study is to describe the social participation of young adults with Down syndrome and examine its relationship with the physical and...
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Experiences Impacting the Quality of Life of Mothers of Children With Autism and Intellectual DisabilityMothers of autistic children and adults bewtween 11 and 24 years old were interviewed about the impacts and rewards associated with their children's disability.
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Multigenerational Familial and Environmental Risk for Autism (MINERvA) NetworkThe MINERvA Network will allow more accurate and precise determination of the contributions of familial and environmental factors to the etiology of autism.
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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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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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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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Measuring use and cost of health sector and related care in a population of girls and young women with Rett syndromeThis study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic...