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Research

Sleep-disordered breathing in Australian children with Prader-Willi syndrome following initiation of growth hormone therapy

In children with Prader-Willi syndrome (PWS), growth hormone (GH) improves height and body composition; however, may be associated with worsening sleep-disordered breathing (SDB). Some studies have reported less SDB after GH initiation, but follow-up with polysomnography is still advised in most clinical guidelines.

Research

Identifying how the principles of self-determination could be applied to create effective alcohol policy for First Nations Australians: Synthesising the lessons from the development of general public policy

Harmful alcohol consumption contributes to poorer health for all people. For Indigenous Peoples of Australia, Canada, and New Zealand alcohol impacts their wellbeing significantly, this is partially explained by both their experiences of colonisation and the resulting impact on structural and social determinants of health. Indigenous Peoples have a recognised right to self-determination, which includes their right to contribute to policy decisions that affect them.

Research

The Rett Syndrome Gross Motor Scale–Dutch Version (RSGMS-NL) Can Reliably Assess Gross Motor Skills in Dutch Individuals with Rett Syndrome

The Rett Syndrome Gross Motor Scale (RSGMS) is an observational measurement, assessing gross motor skills in individuals with Rett syndrome. A Dutch version is lacking. The current study aims to translate and cross-culturally adapt the original RSMGS to Dutch and assess its inter-rater and intra-rater reliability.

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Association between lack of dental service utilisation and caregiver-reported caries in Australian Indigenous children: A national survey

To investigate the association between the lack of dental service utilisation and dental caries in Australian Indigenous children.

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A longitudinal examination of perinatal testosterone, estradiol and vitamin D as predictors of handedness outcomes in childhood and adolescence

The developmental origins of handedness remain elusive, though very early emergence suggests individual differences manifesting in utero could play an important role. Prenatal testosterone and Vitamin D exposure are considered, yet findings and interpretations remain equivocal.

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Quality of life beyond diagnosis in intellectual disability – Latent profiling

To compare quality of life (QOL) across diagnoses associated with intellectual disability, construct QOL profiles and evaluate membership by diagnostic group, function and comorbidities.

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Charting developmental trajectories from 12 to 36 months and associated early risk and protective factors

To investigate developmental trajectories in early childhood and predictors of class assignment.

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Association between disability status and dental attendance patterns in Australian children: A national survey

This study investigated the dental attendance patterns of Australian children with and without disabilities using data from Growing up in Australia: The Longitudinal Study of Australian Children.

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Comprehensive Clinical Paediatric Assessment of Children and Adolescents Sentenced to Detention in Western Australia

To describe the comprehensive clinical paediatric assessment of a representative sample of children and adolescents (young people) sentenced to detention in Western Australia (WA) and participating in the first Fetal Alcohol Spectrum Disorder (FASD) prevalence study.

Research

CDKL5 deficiency disorder: clinical features, diagnosis, and management

CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy.