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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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Maternal Psychiatric Disorder and the Risk of Autism Spectrum Disorder or Intellectual Disability in Subsequent OffspringThis study adds to existing evidence that the rate of pre-existing psychiatric disorders in mothers of children with autism spectrum disorder is higher than...
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Experiences Impacting the Quality of Life of Mothers of Children With Autism and Intellectual DisabilityMothers of autistic children and adults bewtween 11 and 24 years old were interviewed about the impacts and rewards associated with their children's disability.
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Enabling successful life engagement in young people with ADHD: new components beyond adult models of recoveryTo examine the lived experiences of young people successfully managing life with ADHD and investigate the applicability of adult models of Recovery to these individuals.
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Epidemiology of Rare Craniofacial Anomalies: Retrospective Western Australian Population Data Linkage StudyWe aimed to describe birth prevalence of rare craniofacial anomalies and associations with antenatal and perinatal factors. All live and stillbirths in Western Australia between 1980 and 2010 were identified from the Western Australian Birth Registrations and the Midwives Notification System (also provides information on antenatal and perinatal factors).
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Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical ReviewClinical presentations and genetic variations in Cyclin-dependent kinase-like 5 deficiency disorder based on a systematic literature review and experience
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Family functioning in families with a child with Down syndrome: A mixed methods approachThis study aimed to explore the factors that predict functioning in families with a child with Down syndrome using a mixed methods design.
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Development of an International Database for a Rare Genetic Disorder: The MECP2 Duplication Database (MDBase)The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease progression, therapeutic endpoints and outcome measures for clinical trials, as well as the development of therapies and orphan products.
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The Lived Experience of Parents’ Receiving the Diagnosis of CDKL5 Deficiency Disorder for Their ChildCDKL5 deficiency disorder (CDD), a severe developmental and epileptic encephalopathy, is being diagnosed earlier with improved access to genetic testing, but this may also have unanticipated impacts on parents’ experience receiving the diagnosis. This study explores the lived experience of parents receiving a diagnosis of CDD for their child using mixed methods.
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International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency DisorderCDKL5 Deficiency Disorder (CDD) is a rare, X-linked dominant condition that causes a developmental and epileptic encephalopathy (DEE). The incidence is between ~ 1:40,000 and 1:60,000 live births. Pathogenic variants in CDKL5 lead to seizures from infancy and severe neurodevelopmental delay.