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Down SyndromeDown 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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A qualitative investigation of recovery after femoral fracture in Rett syndromeThis 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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Lack of replication for the myosin-18B association with mathematical ability in independent cohortsTwin 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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Use of health services in the last year of life and cause of death in people with intellectual disability: a retrospective matched cohort studyPeople with intellectual disability were more likely to experience potentially preventable conditions at the end of their lives
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Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndromeThe 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 disorderAlthough 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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Incidence and associated risk factors for falls in adults with intellectual disabilityPeople with intellectual disability fall at a younger age compared with the broader community
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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...
News & Events
Zika threat leads to Australian-first microcephaly studyWA Researchers have conducted an Australian-first study to determine the prevalence of microcephaly, in preparation of any future outbreak of the Zika virus.
Research
Complementary and alternative medicine for autism spectrum disorders: Rationale, safety and efficacyThere is insufficient evidence to draw conclusions on the efficacy of modified diets, hyperbaric oxygen therapy, immune therapy, and vitamin and fatty acid...