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Research

Rare childhood diseases: how should we respond?

Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services,...

Database a crucial tool helping to fill the CDKL5 information void

The Kids Research Institute Australia disability researcher, Associate Professor Helen Leonard, played an important role in the identification of the differences that define CDD, thanks to her extensive experience researching Rett syndrome and running an Australian online database tracking Rett cases.

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Can Wearable Inertial Measurement Units Be Used to Measure Sleep Biomechanics? Establishing Initial Feasibility and Validity

Wearable motion sensors, specifically, Inertial Measurement Units, are useful tools for the assessment of orientation and movement during sleep. The DOTs platform (Xsens, Enschede, The Netherlands) has shown promise for this purpose. This pilot study aimed to assess its feasibility and validity for recording sleep biomechanics.

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Deletions in the CDKL5 5 untranslated region lead to CDKL5 deficiency disorder

Pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy.

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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.

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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.

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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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Evolving Trends of Gastrostomy Insertion Within a Pediatric Population

New gastrostomy insertion among children who require long-term enteral feeding support increased over the study period

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Parent Carer Quality of Life and Night-Time Attendance in Non-Ambulant Youth with Neuromuscular Disorders

To describe and explore carer quality of life and night-time attendance to their child in parents of non-ambulant youth with Neuromuscular Disorders. A cross-sectional population-based, comprehensive survey including the Adult Carer questionnaire, measures of social context and youths' physical status. Associations between carer-QoL or frequency of parents' night-time attendance with independent variables were explored using linear and logistic regression models, respectively.

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Mental wellbeing in non-ambulant youth with neuromuscular disorders: What makes the difference?

Mental wellbeing was independently associated with academic achievement and perceived family support but not with physical health variables