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Research

With increasing demands for health, disability and education services, innovative approaches can help distribute limited resources according to need. Despite an increased focus on support needs within the clinical pathway and policy landscape, the body of research knowledge on this topic is at a relatively early stage. However, there appears to be a sense of unmet support needs and dissatisfaction with the provision of required support following an autism diagnosis amongst caregivers of young people on the spectrum.

Research

This study aimed to define the active ingredients of a participation-focused physical activity intervention for children and youth with disabilities.

Research

To define clinical common data elements (CDEs) and a mandatory minimum data set (MDS) for genomic studies of cerebral palsy (CP). Method: Candidate data elements were collated following a review of the literature and existing CDEs.

Research

Systemic Lupus Erythematosus (SLE) is a serious autoimmune disease often resulting in major end-organ damage and increased mortality. Currently, no data exists focussing on the presentation, long-term management and progression of SLE in the Australian paediatric population.

Research

Children with neurodevelopmental disorders often experience difficulties in acquiring and executing movement skills. Although the motor profiles of neurodivergent children frequently overlap, rigid conceptual distinctions between diagnostic labels have been imposed by traditional categorical approaches to taxonomy. An alternative transdiagnostic approach is proposed to better represent the similarities between presentations.

Research

Congenital cytomegalovirus (cCMV) is an important cause of long-term childhood disability. In Australia, the identification and treatment practices and the long-term clinical and neurodevelopmental outcomes of children with cCMV are unknown.

Research

To investigate the use of ultrasound and magnetic resonance imaging (MRI) methodologies to assess muscle morphology and architecture in children with cerebral palsy (CP).

Research

Antisense oligonucleotides are an emerging therapeutic option to treat diseases with known genetic origin. In the age of personalised medicines, antisense oligonucleotides can sometimes be designed to target and bypass or overcome a patient's genetic mutation, in particular those lesions that compromise normal pre-mRNA processing. Antisense oligonucleotides can alter gene expression through a variety of mechanisms as determined by the chemistry and antisense oligomer design.

Research

With advances in perinatal care, we have achieved major reductions in mortality in premature and critically ill infants, but they still remain at increased risk of neurodevelopmental disability. In this context, recent advances in neuroimaging are perceived as an addition of significant value to current clinical developmental screening programs.

Research

Pathogenic variants in the CDKL5 gene result in CDKL5 deficiency disorder (CDD), which is characterized by early-onset epilepsy, severe developmental delay, and often, cortical visual impairment. Validated clinical outcome measures are needed for future clinical trials to be successful. This study aimed to adapt the Rett Syndrome Hand Function Scale for CDKL5 deficiency disorder and evaluate its feasibility, acceptability, content validity, and reliability.