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Discover . Prevent . Cure .

Child Disability

Improving the lives of children with a disability and their families sits at the core of our team.

Around 1 in 10 children have a disability that impacts on their ability to function in the same way as other children.

Sometimes they are born with these disabilities, sometimes they develop after birth, and sometimes they are caused by illness or injury. There are many types of disability, including intellectual, neurological, physical, sensory, and psychological, which can influence how the child thinks, behaves, and develops skills.

Disabilities can create many barriers for children and their families, which can significantly alter their quality of life.

Our vision is that all children impacted by disability and their families will live their best lives. We will support this vision by conducting an evidence- and consumer-informed program of research, underpinned by excellence in study design, analysis, and reporting.

To achieve this vision, we will:

  1. Engage with children with disability and their families across all walks of life to better understand their needs,
  2. Prevent or reduce disability and ensure that our research helps support meaningful and impactful changes,
  3. Engage key stakeholders to improve access to services and influence policy and practice.
  4. Collaborate with the community, health professionals, service providers, researchers, and policy makers.

Team leader

Professor Jenny Downs
Professor Jenny Downs

BApplSci (physio) MSc PhD

Program Head, Development and Disability

Team members (18)

Dr Emma Glasson
Dr Emma Glasson

BPsych BSc (Hons) PhD

Senior Research Fellow

Senior Research Officer

Jacinta Saldaris
Jacinta Saldaris

BSc (Hons), PhD

Senior Research Officer, Child Disability

Kate Dorozenko
Kate Dorozenko

B Psych (First Class Honours), PhD (Psychology)

Senior Research Officer

Senior Research Fellow

Jess Keeley
Jess Keeley

BPsych(Hons), PhD (Psychology)

Research Officer

Peter Jacoby
Peter Jacoby

BA (Hons) MSc

Biostatistician

Clinical Associate Professor Raewyn Mutch
Clinical Associate Professor Raewyn Mutch

MBChB., DipRACOG., Cert.HPRT, FRACP., PhD

Honorary Research Associate

Research Officer

Carolyn Drummond
Carolyn Drummond

B. App Sci (Physio.)

Research Officer

Mohammed Junaid
Mohammed Junaid

BDS, MDS, MFDS RCPS (Glasg.), DDPH RCS (Eng)

Honorary Team Member

Dr Kingsley Wong
Dr Kingsley Wong

MBBS, MPH, MMedStat

Research Officer

Caitlin Gray
Caitlin Gray

BPsych MPH PhD Candidate

Research Assistant and Student

PhD Candidate

Daniel Ta
Daniel Ta

BBiomedSc (Hons)

Reports and Findings

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Italian Version of QI-Disability for QoL Evaluation in Children and Adolescents with Intellectual Disability: Translation and Cross-Cultural Adaptation Process

Children and adolescents with Intellectual Disability experience a worse Quality-of-Life (QoL) relative to typically developing peers. Thus, QoL evaluation is important for identifying support needs and improving rehabilitation effectiveness. Nevertheless, currently in Italy there are not tools with this scope. This study aims to translate and cross-culturally adapt the Quality-of-Life Inventory-Disability into Italian.

Deletions in the CDKL5 5 untranslated region lead to CDKL5 deficiency disorder

Pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy. 

Psychometric evaluation of clinician- and caregiver-reported clinical severity assessments for individuals with CDKL5 deficiency disorder

The CDKL5 Clinical Severity Assessment is a comprehensive, content-validated measurement tool capturing the diverse challenges of cyclin-dependent kinase-like 5 deficiency disorder, a genetically caused developmental epileptic encephalopathy. The CCSA is divided into clinician-reported and caregiver-reported assessments. The aim of this study was to evaluate the factor structure of these measures through confirmatory factor analysis and evaluate their validity and reliability.

Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey

Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder associated with multiple neurologic impairments. Previous studies have shown challenges to the quality of life of individuals with RTT and their caregivers. However, instruments applied to quantify disease burden have not adequately captured the impact of these impairments on affected individuals and their families. Consequently, an international collaboration of stakeholders aimed at evaluating Burden of Illness in RTT was organized.

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