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Rare Diseases

While individual diseases are rare, as a group, rare diseases are common. Recent estimates suggest that between 3% and 6% of the world’s population are affected by rare disease.

Incidence and prevalence of falls in adults with intellectual disability living in the community: a systematic review

Synthesized findings demonstrate that people with intellectual disability, who live in community or residential settings, may fall more frequently, and at a younger age

Addressing challenges in gaining informed consent for a research study investigating falls in people with intellectual disability

This study describes how an informed consent process was developed for people with intellectual disability and how it is working in a current study

Risk and protective factors for the health of primary care-givers of children with autism spectrum disorders or ID: a narrative review

We aimed to review original research which described factors impacting the health of primary care-givers of children with Autism or Intellectual Disability

Validation of intellectual disability coding through hospital morbidity records using an intellectual disability population-based database in Western Australia

To investigate how well intellectual disability (ID) can be ascertained using hospital morbidity data compared with a population-based data source.

Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability

This cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability.

Twenty-Five Year Survival of Children with Intellectual Disability in Western Australia

To investigate survival up to early adulthood for children with intellectual disability and compare their risk of mortality with that of children without intellectual disability.

Expanding the clinical picture of the MECP2 Duplication syndrome

People with two or more copies of MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype called MECP2 Duplication syndrome.

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...

Is the broad autism phenotype in mothers of children with autism spectrum disorder exacerbated by the challenges of caring for their children?

This qualitative study of parental interviews provided a preliminary examination of whether behaviours consistent with the BAP may have been exacerbated by...