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Research

A qualitative investigation of recovery after femoral fracture in Rett syndrome

This study used qualitative methods to investigate the regaining of mobility in 12 months following fractures in Rett syndrome and parent caregiver experiences.

Research

Down Syndrome

Down syndrome, also known as Trisomy 21, is one of the most common chromosome abnormalities in humans. It occurs when a child's cells end up with 47 chromosomes instead of the usual 46. Down syndrome causes intellectual disability and other physical and learning challenges.

Research

Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome

The genetic causes of intellectual disability (ID) are heterogeneous and include both chromosomal and monogenic etiologies.

Research

Lack of replication for the myosin-18B association with mathematical ability in independent cohorts

Twin studies indicate that dyscalculia (or mathematical disability) is caused partly by a genetic component, which is yet to be understood at the molecular...

Research

Is autism one or multiple disorders?

Elucidating the underlying nature of the disorder(s) is a crucial step towards tailoring intervention to the biological and cognitive makeup of each individual.

Research

Pre-existing differences in mothers of children with Autism Spectrum disorder and/or intellectual disability: A review

The aim of this study is to review research on the pre-existing characteristics which differentiate mothers of children with ASD and/or ID of unknown cause...

News & Events

Zika threat leads to Australian-first microcephaly study

WA Researchers have conducted an Australian-first study to determine the prevalence of microcephaly, in preparation of any future outbreak of the Zika virus.

Research

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.

Research

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

Research

Expanding the clinical picture of the MECP2 Duplication syndrome

Perinatal characteristics, early childhood development and medical co-morbidities in MECP2 Duplication syndrome