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Showing results for "autism"

Research

Multi-site validation of a suite of clinical outcome measures for clinical trial readiness in the CDKL5 Deficiency Disorder

Helen Jenny Peter Leonard Downs Jacoby MBChB MPH BApplSci (physio) MSc PhD BA (Hons) MSc Principal Research Fellow Head, Child Disability

Research

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.

Research

Linking MECP2 and pain sensitivity: the example of Rett syndrome

This study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations.

Research

Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database

Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically.

Research

Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders

This study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome

Movement Disorders

Our vision is to increase awareness and improve outcomes for children with movement disorders and other neurodevelopmental conditions impacting on motor function.

Research

Down syndrome studies; the transition from secondary school to adulthood: Experiences and life outcomes for youth with an intellectual disability and their families

Helen Jenny Keely Leonard Downs Bebbington MBChB MPH BApplSci (physio) MSc PhD MClinPsych/PhD Principal Research Fellow Head, Child Disability

Research

The correlation between central and peripheral oxytocin concentrations: A systematic review and meta-analysis

These results indicate a coordination of central and peripheral oxytocin release after stress and after intranasal administration

Research

Psychometric properties of QI-Disability in CDKL5 Deficiency Disorder: Establishing readiness for clinical trials

CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder with symptoms of epilepsy, developmental impairments, and other comorbidities. Currently, there are no outcome measures for CDD with comprehensive evidence of validation. This study aimed to evaluate the psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) in CDD. Quality of Life Inventory-Disability was administered to 152 parent caregivers registered with the International CDKL5 Disorder Database (ICDD).

Research

Experiences and Attitudes of Parents Reducing Carbohydrate Intake in the Management of Their Child’s Type 1 Diabetes: A Qualitative Study

Reducing carbohydrate (CHO) intake is being used as an approach to manage type 1 diabetes (T1D) in children. This study aimed to investigate the experiences and attitudes of parents of children with T1D who are reducing CHO intake to help manage blood glucose levels.