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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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Intellectual disability in children conceived using assisted reproductive technologyThe risk of intellectual disability was increased in children born after assisted reproductive technology in Western Australia from 1994 to 2002
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Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency DisorderOur study suggests that vagus nerve stimulation is a generally safe and effective adjunct treatment for CDKL5-associated epilepsy
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What effect does regular exercise have on oxidative stress in people with Down syndrome? A systematic review with meta-analysesThere remains uncertainty about the effect of exercise on oxidative stress in people with Down syndrome
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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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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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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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Pre-existing differences in mothers of children with Autism Spectrum disorder and/or intellectual disability: A reviewThe aim of this study is to review research on the pre-existing characteristics which differentiate mothers of children with ASD and/or ID of unknown cause...