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The natural history of the MECP2 Duplication disorder: Australian surveillance and plans for development of an international register

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

Cannabis for refractory epilepsy in children: A review focusing on CDKL5 Deficiency Disorder

This review provides the first comprehensive overview of the potential role for cannabis based preparations in the treatment of CDKL5 Deficiency Disorder

The Ultra-High-Risk for psychosis groups: Evidence to maintain the status quo

Our findings demonstrate that Ultra-High-Risk groups evidence a similar clinical risk profile when we expand this beyond transition to psychosis

Vitamin D supplementation of initially vitamin D-deficient mice diminishes lung inflammation with limited effects on pulmonary epithelial integrity

In disease settings, vitamin D may be important for maintaining optimal lung epithelial integrity and suppressing inflammation, but less is known of its effects prior to disease onset.

Development and Validation of a Multifactor Mindfulness Scale in Youth: The Comprehensive Inventory of Mindfulness Experiences-Adolescents (CHIME-A)

This study aimed to investigate whether multifactor scales of mindfulness can be used in adolescents.

Pre- and probiotics for allergy prevention: time to revisit recommendations?

We discuss how the choice of probiotic strains, timing and duration of administration can critically influence the outcome due to different effects on immune modulation and gut microbiota composition

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

There were differences in the presentation of clinical features occurring in the CDKL5 disorder and in Rett syndrome.

A special supplement: Findings from the Australian Cerebral Palsy Register, birth years 1993 to 2006

A downward trend in rates of CP in those born extremely preterm was evident over at least three consecutive periods across all three regions.

Neurodiversity (in)Justice: Learnings for Australia from international approaches to supporting neurodivergent people in justice facilities

Hayley Passmore BCrim, BAPsych(Hons), PhD Honorary Research Associate Hayley.passmore@thekids.org.au Senior Research Officer Dr Passmore is an early

Enhancing Anesthesia Research: The Imperative of Consumer Engagement Into Clinical Research

Britta Regli-von Ungern-Sternberg AM FAHMS MD, PhD, DEAA, FANZA Chair of Paediatric anaesthesia, University of Western Australia; Consultant

Sibling/Parent Research Advisor

Teen Talk Study

In 2024–2025, we listened to 40 siblings from across Australia share their experiences of family life and social connection. Most had a brother or sister with developmental disability, and others did not. Together, they offered open and thoughtful reflections on roles and responsibilities at home, friendships, fam

Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome

This study explored relationships between speech and language abilities in girls with Rett syndrome and how they may be affected by the type of genetic mutation

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.

Parental origin of mutations

We hypothesised that MECP2 mutations occur predominantly on the male derived X chromosome.