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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…

Longitudinal trajectory of gross motor skills in school-aged children with Rett syndrome

In children with Rett syndrome, this study aimed to (1) describe gross motor skill trajectories; and (2) analyse the influences of genetic variant an…

Longitudinal Rett syndrome behaviour questionnaire scores and their associations with genotype and trajectories of mobility, weight and seizure frequency status

The Rett Syndrome Behaviour Questionnaire (RSBQ) describes behavioural and emotional features. This study investigated total RSBQ score trajectories…

Infographics

The visual representation of Teen Talk study findings

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 si…

Functional skills in MECP2 duplication syndrome: developmental dynamics and regression

MECP2 duplication syndrome (MDS) is an ultrarare, X-linked neurodevelopmental disorder that is poorly understood in terms of its natural history and…

Healthcare SAVVI: Exploring health literacy and parents' experiences in supporting the health of children with intellectual disability

Research on the health literacy of parents with children with intellectual disability is limited. Understanding parents' healthcare skills and needs…

Caregiver-reported quality of life in individuals with developmental and epileptic encephalopathy and other severe neurodevelopmental encephalopathies

Information on factors contributing to quality of life (QOL) informs meaningful patient-centred care. We evaluated factors influencing QOL in individ…

Development and initial validation of the Communication Inventory Disability – Observer Reported (CID-OR): a measure of communication in CDKL5 deficiency disorder

CDKL5 Deficiency Disorder (CDD) is a rare neurodevelopmental disorder characterised by early onset seizures combined with complex healthcare needs an…

The impact of child self-regulation difficulties on parents: A qualitative study

The capacity for children to self-regulate is an important developmental task of early childhood, with caregivers playing an integral role in self-re…