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Research

The misnomer of ‘high functioning autism’: Intelligence is an imprecise predictor of functional abilities at diagnosis

We argue that 'high functioning autism' is an inaccurate clinical descriptor when based solely on intelligence quotient demarcations

Research

Using a trauma informed practice framework to enhance understanding of and identify support strategies for behavioural difficulties in young people with Prader-Willi syndrome

Behavioural support for young people with Prader-Willi syndrome (PWS) is necessary in home and school environments. The Trauma Informed Practice (TIP) framework has been used to support young people with complex behavioural needs in school settings. To identify parent and professional perspectives on behavioural challenges experienced by young people with PWS and strategies for supports, to inform understanding of how they are aligned with the TIP framework.

Research

Energy drink intake is associated with insomnia and decreased daytime functioning in young adult females

To investigate the association between energy drink (ED) use and sleep-related disturbances in a population-based sample of young adults from the Raine Study.

Research

Stillbirth risk prediction using machine learning for a large cohort of births from Western Australia, 1980–2015

Almost half of stillbirths could be potentially identified antenatally based on a combination of factors

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

Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods

Existing quality of life scales for children in the general population or with other disabilities did not capture the QOL of children with Rett syndrome

Research

Severity Assessment in CDKL5 Deficiency Disorder

A severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials.

Research

Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder

Epilepsy is pervasive but not mandatory for the CDKL5 disorder, and genotype and functional abilities were related to seizure frequency

Research

Quality of Life and Psychosocial Well-Being in Youth With Neuromuscular Disorders Who Are Wheelchair Users: A Systematic Review

To investigate quality of life (QOL) and psychosocial well-being in youth with neuromuscular disorders (NMDs) who are wheelchair users.

Research

Propulsion strategy in the gait of primary school children; the effect of age and speed

Ankle and hip power generation as a propulsion strategy during the late stance/early swing phases of walking and running in typically developing children