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Research

A qualitative investigation of recovery after femoral fracture in Rett syndrome

This study used qualitative methods to investigate the regaining of mobility in 12 months following fractures in Rett syndrome and parent caregiver experiences.

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Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome

The genetic causes of intellectual disability (ID) are heterogeneous and include both chromosomal and monogenic etiologies.

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Functional abilities in children and adults with the CDKL5 disorder

Although abilities were markedly impaired for the majority with the CDKL5 disorder, some females and a few males had better functional abilities

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Young adults with intellectual disability transitioning from school to post-school: A literature review framed within the ICF

The purpose of this review was to describe literature relating to transition for young people with an intellectual disability and identify knowledge base gaps.

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Down Syndrome

Down syndrome, also known as Trisomy 21, is one of the most common chromosome abnormalities in humans. It occurs when a child's cells end up with 47 chromosomes instead of the usual 46. Down syndrome causes intellectual disability and other physical and learning challenges.

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Lack of replication for the myosin-18B association with mathematical ability in independent cohorts

Twin studies indicate that dyscalculia (or mathematical disability) is caused partly by a genetic component, which is yet to be understood at the molecular...

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Influence of the environment on participation in social roles for young adults with down syndrome

The 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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Is the broad autism phenotype in mothers of children with autism spectrum disorder exacerbated by the challenges of caring for their children?

This qualitative study of parental interviews provided a preliminary examination of whether behaviours consistent with the BAP may have been exacerbated by...

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Experiences Impacting the Quality of Life of Mothers of Children With Autism and Intellectual Disability

Mothers 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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The triple challenges associated with age-related comorbidities in Down syndrome

Major increases in the survival of people with Down syndrome during the last two generations have resulted in extended periods of adulthood requiring...