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New insight into Rett syndrome severityA research collaboration between Australia and Israel has identified a genetic variation that influences the severity of symptoms in Rett syndrome.
News & Events
New guidelines a model for better management of rare conditionsNew guidelines a model for better management of rare conditions
Research
The western dietary pattern is prospectively associated with nonalcoholic fatty liver disease in adolescenceIn centrally obese adolescents with NAFLD, a healthy dietary pattern may be protective, whereas a Western dietary pattern may increase the risk.
Research
Overnight monitoring of sleep biomechanics: A scoping reviewBody position and movement during sleep is assessed for both clinical and research purposes. A diverse array of both assessment tools and classification systems are used to capture and code sleep biomechanics data.
Research
The ORIGINS Project: A Cross-Sectional Analysis of the Nutrition Profile of Pregnant Women in a Longitudinal Birth CohortPregnancy is an opportunistic time for dietary intake to influence future disease susceptibility in offspring later in life. The ORIGINS Project was established to identify the factors that contribute to 'a healthy start to life' through a focus supporting childhood health and preventing disease (including non-communicable diseases).
Research
Experience of primary caregivers in utilising an mHealth application for remote dental screening in preschool childrenThis study aimed to address the acceptance of mHealth applications for a dental screening app that facilitates patient information entry and captures dental photos remotely to assist in caries diagnosis in preschool children in Australia.
Research
Evaluation Tools Developed for Rett SyndromeRett syndrome (RTT) is a complex neurodevelopmental X-linked disorder associated with severe functional impairments and multiple comorbidities. There is wide variation in the clinical presentation, and because of its unique characteristics, several evaluation tools of clinical severity, behavior, and functional motor abilities have been proposed specifically for it.
Research
Probiotic supplementation in neonates and long-term gut colonisation: A systematic review of randomised controlled trialsProbiotic supplementation in the neonatal period results in improved gut colonisation with probiotic bacteria in the short term. There is limited information on the long-term sustainability of this colonisation.
Research
The Rett Syndrome Gross Motor Scale–Dutch Version (RSGMS-NL) Can Reliably Assess Gross Motor Skills in Dutch Individuals with Rett SyndromeThe 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.