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Onset of maternal psychiatric disorders after the birth of a child with intellectual disability: A retrospective cohort study

Mothers of a child with intellectual disability (ID) have more psychiatric disorders after the birth of their child than other mothers. ...

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Influence of the environment on participation in social roles for young adults with down syndrome

The 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 Disability

Mothers 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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Community participation for girls and women living with Rett syndrome

Participation 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 approach

This 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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Gestational age as a predictor for subsequent preterm birth in New South Wales, Australia

There is no validated evidence base on predictive ability and absolute risk of preterm birth by gestational age of the previous pregnancy. We conducted a retrospective cohort study of mothers who gave birth to their first two children in New South Wales, 1994-2016. For each week of final gestational age of the first birth, we calculated relative and absolute risks of subsequent preterm birth. ...

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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. ...

Research

Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder

This study investigated the influence of factors at birth and in infancy on the likelihood of achieving major motor milestones in CDKL5 Deficiency Disorder (CDD). Data on 350 individuals with a pathogenic CDKL5 variant was sourced from the International CDKL5 Disorder Database. ...

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Onset of maternal psychiatric disorders after the birth of a child with intellectual disability: A retrospective cohort study

Influence of the environment on participation in social roles for young adults with down syndrome

Experiences Impacting the Quality of Life of Mothers of Children With Autism and Intellectual Disability

Community participation for girls and women living with Rett syndrome

Family functioning in families with a child with Down syndrome: A mixed methods approach

Gestational age as a predictor for subsequent preterm birth in New South Wales, Australia

Development of an International Database for a Rare Genetic Disorder: The MECP2 Duplication Database (MDBase)

Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder

Enabling successful life engagement in young people with ADHD: new components beyond adult models of recovery

Parental perspectives on the communication abilities of their daughters with Rett syndrome

Clinical guidelines for management of bone health in rett syndrome based on expert consensus and available evidence

Expanding the clinical picture of the MECP2 Duplication syndrome