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Research

Children with congenital heart defects (CHDs) are at higher risk of developing an intellectual disability. However, severity of intellectual disabilities among this group of children are largely unknown. Our objective was to determine the risk of intellectual disability (ID), ID severity, and autism among children with CHDs.

Research

Achondroplasia is the most common form of skeletal dysplasia. In addition to altered growth, children and young people with achondroplasia may experience medical complications, develop and function differently to others and require psychosocial support. International, European and American consensus guidelines have been developed for the management of achondroplasia. The Australian focused guidelines presented here are designed to complement those existing guidelines.

Research

People with intellectual disability experience a high risk of being neglected and family members are often identified as the perpetrators. Analysing the media provides insight into public narratives about social problems. A search of Australian newspapers published between 2016 and 2021 identified 27 articles that predominately reported on a single case of familial neglect of an individual with intellectual disability.

Research

To present a case study of the considerations of mandatory fortification with folic acid in Australia and New Zealand.

Research

Children with rare diseases experience challenges at home and school and frequently require multi-disciplinary healthcare. We aimed to determine health service utilization by Australian children with rare diseases and barriers to accessing healthcare.

Research

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).

Research

Influenza vaccination of children with medical comorbidities is critical due their increased risks for severe influenza disease. In Australia, hospitals are an avenue for influenza vaccine delivery to children with comorbidities but are not always effectively utilised. Qualitative enquiry sought to ascertainment the barriers and enablers for influenza vaccination recommendation, delivery, and recording of these children at Australian hospitals.

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

ParticiPAte CP is a participation-focused therapy intervention that is effective to increase perceived performance of physical activity participation goals in children with cerebral palsy. We aimed to characterise the contents of ParticiPAte CP using validated behaviour change frameworks.

Research

To compare quality of life (QOL) across diagnoses associated with intellectual disability, construct QOL profiles and evaluate membership by diagnostic group, function and comorbidities.