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Research
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesSystematic sequencing of all X-chromosomal genes in patients with genetic evidence for X-chromosome locus involvement may resolve 58% of Fragile X-negative cases
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Onset of maternal psychiatric disorders after the birth of a child with autism spectrum disorder: A retrospective cohort studyMothers of a child with autism spectrum disorder have more psychiatric disorders after the birth of their child.
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Impact of prenatal screening and diagnostic testing on trends in Down syndrome births and terminations in Western Australia 1980 to 2013To assess how prenatal screening and diagnostic testing have impacted the diagnosis, termination and birth prevalence of Down syndrome in Western Australia...
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Community participation for girls and women living with Rett syndromeThis paper aimed to describe the relationships between level of impairment and participation in community activities for girls and women with Rett syndrome.
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Towards a molecular characterization of autism spectrum disorders: An exome sequencing and systems approachThis paper profiles the functional pattern of DNA variants found at a higher rate in patients with autism spectrum disorder (ASD), X-linked intellectual...
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Intellectual disability and other neuropsychiatric outcomes in high-risk children of mothers with schizophrenia, bipolar disorder and unipolar major depressionWe examined risk of intellectual disability and other neuropsychiatric outcomes in children of mothers with and without schizophrenia, bipolar or depression.
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Overview of health issues in school-aged children with Down SyndromeOverview of Health Issues in School-aged Children with Down Syndrome
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Oral health education and promotion in special needs children: Systematic review and meta-analysisTo review the effectiveness of oral health education and oral health promotion interventions for children and adolescents with intellectual and developmental disabilities (IDD), in ensuring optimal gingival health, caries experience and oral health-related quality of life, compared to no interventions or alternative interventions.
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Systematic Review and Meta-analysis: Mental Health in ChildrenThe behavioral phenotype of neurogenetic disorders associated with intellectual disability often includes psychiatric comorbidity. The objectives of this systematic review and meta-analysis were to systematically review the prevalence of psychiatric disorders and symptoms in children and adolescents
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Survival of children and adolescents with intellectual disability following gastrostomy insertionWhilst gastrostomy insertion was associated with lower survival rates than children without gastrostomy, survival improved with time