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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.

Child protection involvement of children of mothers with intellectual disability

Children born to parents with intellectual disability (ID) have been shown as disproportionally represented in child protection services however with limited population-based research.

Learning to cope with uncertainty

A small group program to help parents tackle anxiety in young children diagnosed with autism has found significant improvements in both children’s anxiety and parental mental health and wellbeing.

Young people with intellectual disability transitioning to adulthood: Do behaviour trajectories differ in those with and without down syndrome

Changes in emotional and behavioural problems for young people with intellectual disability with and without Down syndrome as they transition into adulthood

Young adults with intellectual disability transitioning from school to post-school: A literature review framed within the ICF

The purpose of this review was to describe literature relating to transition for young people with an intellectual disability and identify knowledge base gaps.

Intellectual disability: Population-based estimates of the proportion attributable to maternal alcohol use disorder during pregnancy

The aim of this study was to examine the association between maternal alcohol use disorder and intellectual disability in children.

Predictors of seizure onset in Rett syndrome

Information on presence and age at onset of seizures, perinatal and developmental history, and genetic status was abstracted on 275 cases in the Australian...

Rett syndrome in Australia: a review of the epidemiology

To examine the prevalence, cumulative incidence, and survival in an Australian cohort with Rett syndrome (RTT).

Intellectual disability in children conceived using assisted reproductive technology

The risk of intellectual disability was increased in children born after assisted reproductive technology in Western Australia from 1994 to 2002

An investigation of the determinants of quality of life in adolescents and young adults with Down syndrome

Quality of life of young people with Down syndrome was most negatively associated with burden of medical conditions, but also with lack of friendships