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For this study, we examined how Rett syndrome characteristics can be affected by X-inactivation for 2 of the common types of mutation - p.R168X and p.T158M.
Therefore, we used video data to examine changes in hand function over time. We also investigated what other factors might influence these changes.
We interviewed 17 parents with a daughter with Rett syndrome to gain their perspectives on how their daughter communicates and barriers.
We aim to share our research findings with families so that they may better understand Rett syndrome and the future for their family.
Research
Systematic Review and Meta-analysis: Mental Health in ChildrenThe behavioral phenotype of neurogenetic disorders associated with intellectual disability often includes psychiatric comorbidity. The objectives of this systematic review and meta-analysis were to systematically review the prevalence of psychiatric disorders and symptoms in children and adolescents
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The Impact of Externally Worn Diabetes Technology on Sexual Behavior and Activity, Body Image, and Anxiety in Type 1 DiabetesWearable technologies impact upon sexual activity and this influences the decision to adopt the technology
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Birth outcomes in Aboriginal mother–infant pairs from the Northern Territory, Australia, who received 23-valent polysaccharide pneumococcal vaccination during pregnancyWe found a numerically higher rate of preterm births among women who received 23vPPV in pregnancy compared to unvaccinated pregnant women
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Cochrane corner: Sound therapy (using amplification devices and/or sound generators) for tinnitusThis Cochrane review shows that both hearing aids and sound generators may be beneficial for reducing tinnitus severity in some patients
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Longitudinal trajectories of BMI z-score: an international comparison of 11,513 Australian, American and German/Austrian/Luxembourgian youth with type 1 diabetesThis multinational study presents unique body mass index z score trajectories in youth with type 1 diabetes across three continents
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Perioperative pediatric tonsillectomy analgesia: A single-center review of practice and cost-effectiveness analysisTonsillectomy is one of the most common pediatric surgeries and results in considerable postoperative pain. Insufficiently managed pain is costly, risks physiological and psychological consequences with multi-modal analgesia widely recommended to minimize opioid-based agents. We determined adherence to multi-modal analgesia guidelines and assessed cost-effectiveness. We undertook a cross-sectional cohort study at a tertiary pediatric institution in Perth, Western Australia, retrospectively identifying selected patients undergoing tonsillectomy over two discrete periods of 6-week duration.