Search the site

The trajectories of sleep disturbances in Rett syndrome

This paper demonstrated that the evolution of sleep problems differed between subgroups of girls and women with Rett syndrome, in part explained by age and...

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).

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.

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

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.

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.

The Kids welcomes support for autistic students

The Kids Research Institute Australia has welcomed the recommendations to come out of the State Government’s inquiry into support for autistic children and young people in schools, released last week.

Addressing the challenges of intellectual disability identification for health policy and research in Australia

This article discusses the important issue of the need for a stable definition of intellectual disability in order to allow comparisons by place and over time such as in the monitoring of this population's health needs and utilization. The aim of the new Australian National Centre for Intellectual Disability Health, established in 2023, is to ensure that all Australian children and adults with intellectual disability receive high-quality healthcare that meets their needs.

Psychosocial aspects of early detection in type 1 diabetes: Language matters, decision making and support needs

The potential implementation of early type 1 diabetes (T1D) detection pathways, encompassing autoantibody screening and longitudinal monitoring, raises important psychosocial considerations for ethical, person-centred care. This review summarises evidence on the psychosocial impact of early T1D detection, identifying key evidence gaps and recommendations for integrating psychosocial support.

The Promise of Electroencephalography for Advancing Diagnosis and Treatment in Neurodevelopmental Disorders

NDD's such as ASD, ADHD and ID, commonly emerge during early development and impacts function across cognitive, social-emotional, communication and sensorimotor