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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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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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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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Physical and mental health in mothers of children with Down syndrome.Physical and mental health in mothers of children with Down syndrome.
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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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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.
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Risk and protective factors for the health of primary care-givers of children with autism spectrum disorders or ID: a narrative reviewWe aimed to review original research which described factors impacting the health of primary care-givers of children with Autism or Intellectual Disability
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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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Expanding the clinical picture of the MECP2 Duplication syndromePerinatal characteristics, early childhood development and medical co-morbidities in MECP2 Duplication syndrome