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Research
There is variability in the attainment of developmental milestones in the CDKL5 disorderIndividuals with the CDKL5 disorder have been described as having severely impaired development.
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Influence of the environment on participation in social roles for young adults with down syndromeThe purpose of this study is to describe the social participation of young adults with Down syndrome and examine its relationship with the physical and...
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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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The triple challenges associated with age-related comorbidities in Down syndromeMajor increases in the survival of people with Down syndrome during the last two generations have resulted in extended periods of adulthood requiring...
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Community participation for girls and women living with Rett syndromeParticipation for girls and women with Rett syndrome could be enhanced by stronger local community supports.
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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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Decline in gross motor skills in adult Rett syndrome; results from a Danish longitudinal studyLongevity of individuals with neurodevelopmental diseases as Rett syndrome (RTT) has increased and many reach adulthood and old age. There is therefore a need to increase knowledge about the course of RTT in adults in order to improve medical care management and quality of life.
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Influences on the trajectory and subsequent outcomes in CDKL5 deficiency disorderThe study investigated the effect of seizure and medication burden at initial contact with the International CDKL5 Disorder Database on subsequent development and clinical severity and compared quality of life among those whose development progressed, remained stable, or regressed between baseline and follow-up.
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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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Risk and resilience factors impacting the mental health and wellbeing of siblings of individuals with neurodevelopmental conditions: A mixed methods systematic reviewThis pre-registered systematic review synthesised and evaluated the existing literature on self-reported mental health and wellbeing of siblings of individuals with neurodevelopmental conditions.