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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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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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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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Pregnancy and birth outcomes of mothers with intellectual disability and their infants: Advocacy needed to improve well-beingFor mothers with intellectual disability, modifiable risk factors for adverse outcomes need addressing
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Admissions in Children with Down Syndrome: Experience of a Population-Based Cohort Followed from BirthThis study describes patterns of hospitalisations for children and young people with Down syndrome in Western Australia.
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The experiences of mothers of young adults with an intellectual disability transitioning from secondary school to adult lifeThe transition from school to adulthood for young adults with an intellectual disability involves movement from a generally secure and supported school...
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Maternal Conditions and Perinatal Characteristics Associated with Autism Spectrum Disorder and Intellectual DisabilityFindings show that indicators of a poor intrauterine environment are associated with an elevated risk of ID, while for ASD, and particularly ASD without ID,...
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Evaluation of the processes of family-centred care for young children with intellectual disability in Western AustraliaGovernment early intervention services for children with intellectual disability (ID) in Western Australia have adopted the model of family-centred care.
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International trends of Down syndrome 1993-2004: Births in relation to maternal age and terminations of pregnanciesThe aim of this study was to examine trends of Down syndrome (DS) in relation to maternal age and termination of pregnancies (ToP) in 20 registries
While individual diseases are rare, as a group, rare diseases are common. Recent estimates suggest that between 3% and 6% of the world’s population are affected by rare disease.