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Change in Gross Motor Abilities of Girls and Women With Rett Syndrome Over a 3- to 4-Year Period

We describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database

Trends in the diagnosis of Rett syndrome in Australia

Modifications to diagnostic criteria and introduction of genetic testing have likely affected the pattern and timing of Rett syndrome diagnosis...

The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population

This study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation...

Down Syndrome Clinical Trial- BTD-001

Helen Jenny Peter Leonard Downs Richmond MBChB MPH BApplSci (physio) MSc PhD MBBS MRCP(UK) FRACP Principal Research Fellow Head, Child Disability

Understanding autistic LGBTQA+ young people’s experiences of trauma: An intersectional approach

Recent research has consistently found significantly higher rates of gender and sexual diversity reported in the autistic population compared to the non-autistic population, and higher rates of autism reported in LGBTQA+ populations compared to cisgender and heterosexual populations

Using ambulatory monitoring to investigate awake breathing irregularities in Rett syndrome in Australian population-based and Italian clinic samples

Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763

Cutting-edge CliniKids keeps families up-to-date

CliniKids, the first stand-alone clinical service offered by The Kids Research Institute Australia, was launched in October 2019 and is already delivering benefits for families with children who are developing differently.

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.

Caregivers' Perceptions of Clinical Symptoms, Disease Management, and Quality of Life Impact in Cases of Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Cross-Sectional Online Survey

Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is an ultrarare genetic condition causing developmental epileptic encephalopathy characterized by seizures and motor and intellectual disabilities. No disease-modifying therapies are available, and treatments focus mainly on symptom management to improve quality of life.

The perspectives of autistic adolescents and their parents on sleep strategies for insomnia

Autistic adolescents are vulnerable to sleep difficulties, with up to 80 % experiencing sleep problems, most commonly insomnia. Little is known about how autistic adolescents are involved in their own sleep treatment, and their depth of knowledge about their sleep difficulties. The aims of this study were to investigate autistic adolescent and parent perspectives of experiencing and managing insomnia, and what factors influence the development of these perspectives on insomnia and treatment.