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Research

Description of Total Population Hospital Admissions for Treacher Collins Syndrome in Australia

To describe patterns and demographic characteristics of total-population hospital admissions with a diagnosis of Treacher Collins syndrome (TCS) in Australia.

Research

Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative study

CDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials. 

Research

Hospitalizations from Birth to 28 Years in a Population Cohort of Individuals Born with Five Rare Craniofacial Anomalies in Western Australia

To describe trends, age-specific patterns, and factors influencing hospitalizations for 5 rare craniofacial anomalies.

Research

Building the repertoire of measures of walking in Rett syndrome

This study aimed to determine measurement properties of a modified 2MWT and a modified Rett syndrome-specific FMS-RS in Rett syndrome.

Research

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.

Research

Day occupation is associated with psychopathology for adolescents and young adults with Down syndrome

In comparison to those young adults attending open employment from 2009 to 2011, those attending day recreation programs were reported to experience...

Research

Functioning and post-school transition outcomes for young people with Down syndrome

Our analysis shows that functioning in activities of daily living was related to post-school day occupation. Current health status and behaviour were found...

Research

Early development and regression in Rett syndrome

Our findings provide additional insight into the early clinical profile of Rett syndrome.