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Birth prevalence of congenital heart defects in Western Australia, 1990–2016We describe the birth prevalence and characteristics of congenital heart defects in a geographically defined Australian population. This descriptive, population-based study examined congenital heart defects in live births, stillbirths and pregnancy terminations ascertained by the Western Australian Register of Developmental Anomalies, 1990-2016.
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Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methodsExisting quality of life scales for children in the general population or with other disabilities did not capture the QOL of children with Rett syndrome
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Changes in caesarean delivery rates in Western Australia from 1995 to 2010 by gestational age at birthThe objective of this paper was to measure changes in caesarean delivery rates for primiparous women in Western Australia during 1995–2010 stratified by...
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Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorderEpilepsy is pervasive but not mandatory for the CDKL5 disorder, and genotype and functional abilities were related to seizure frequency
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Propulsion strategy in the gait of primary school children; the effect of age and speedAnkle and hip power generation as a propulsion strategy during the late stance/early swing phases of walking and running in typically developing children
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Down syndrome or Rett syndrome in the family: Parental reflections on sibling experienceSiblings of children with intellectual disability have unique family experiences, varying by type of disability.
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How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication SyndromeMECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents.
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Severe Congenital Heart Defects and Cerebral PalsyTo report the prevalence of cerebral palsy (CP) in children with severe congenital heart defects (sCHD) and the outcome/severity of the CP.
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Relationship between family quality of life and day occupations of young people with Down syndromeThis study aimed to explore relationships between family quality of life, day occupations and activities of daily living of young persons with Down syndrome.
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Day occupation is associated with psychopathology for adolescents and young adults with Down syndromeIn comparison to those young adults attending open employment from 2009 to 2011, those attending day recreation programs were reported to experience...