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Research

Reactogenicity of two 2010 trivalent inactivated influenza vaccine formulations in adults

The objective of this tudy was to assess the reactogenicity of two 2010 trivalent inactivated influenza vaccine (TIV) formulations among adults, including...

Research

CD4 allergen tetramers

The introduction of class II tetramers for identifying antigen-binding CD41 cells has lagged behind the use of class I tetramers because of difficulties...

Research

Increasing the low-glucose alarm of a continuous glucose monitoring system prevents exercise-induced hypoglycemia

The use of continuous glucose monitoring systems (CGMSs) with low-glucose alarms is advocated as a means to decrease the risk of hypoglycemia in type-1 Diabetes

Research

Polymorphisms associated with normal memory variation also affect memory impairment in schizophrenia

Neurocognitive dysfunction is a core feature of schizophrenia with particularly prominent deficits in verbal episodic memory.

Parental perspectives on the communication abilities of their daughters with Rett syndrome

We interviewed 17 parents with a daughter with Rett syndrome to gain their perspectives on how their daughter communicates and barriers.

Research

Collaborating with consumer and community representatives in health and medical research in Australia:

The objective of this tudy was to collaborate with consumer and community representatives in the Alcohol and Pregnancy Project from 2006-2008

Clinical severity and X-chromosome inactivation

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.

Feeding experiences and growth status in a Rett syndrome population

We set out to describe the feeding difficulties and nutrition of girls with Rett syndrome and to examine what factors may be influencing their nutrition.

Research

Non-specific psychological distress, smoking status and smoking cessation: United States National Health Interview Survey 2005

It is well established that smoking rates in people with common mental disorders such as anxiety or depressive disorders are much higher than in people...

Longitudinal hand function in Rett syndrome

Therefore, we used video data to examine changes in hand function over time. We also investigated what other factors might influence these changes.

Research

Dietary intake of omega-3 fatty acids and risk of depressive symptoms in adolescents

Previous randomized controlled trials have demonstrated that omega-3 polyunsaturated fatty acids (n-3 PUFA) are beneficial in reducing symptoms of depression.

Research

Influence of secular trends and sample size on reference equations for lung function tests

The aim of our study was to determine the contribution of secular trends and sample size to lung function reference equations, and establish the number...

Child Disability

Improving the lives of children with a disability and their families sits at the core of our team.

Research

Longitudinal hand function in Rett syndrome

Loss of hand function is a core feature of Rett syndrome. This article describes longitudinal hand function at 3 time points for 72 subjects participating...

Research

Rett Syndrome Behaviour Questionnaire: Variability of Scores and Related Factors

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting predominantly females and associated with variants in the MECP2 gene. Recent success in clinical trials have resulted in an expanded use of the Rett Syndrome Behaviour Questionnaire (RSBQ) for clinical and research purposes.

Research

Characterization of a novel JNK (c-Jun N-terminal kinase) inhibitory peptide

An improved understanding of the roles of protein kinases in intracellular signalling and disease progression has driven significant advances in protein...

Research

Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndrome

Rett syndrome (RTT) is a rare neurodevelopmental disorder with developmental impairments, comorbidities, and abnormal behaviours such as hand stereotypies and emotional features. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed to describe the behavioural and emotional features of RTT.

Research

Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey

Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder associated with multiple neurologic impairments. Previous studies have shown challenges to the quality of life of individuals with RTT and their caregivers. However, instruments applied to quantify disease burden have not adequately captured the impact of these impairments on affected individuals and their families. Consequently, an international collaboration of stakeholders aimed at evaluating Burden of Illness in RTT was organized.

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.