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Neurodisability and Rehabilitation

Approximately 7.6% of all Australian children have a disability.  These disabilities include intellectual disability, cerebral palsy, spina bifida, acquired brain injury, visual or hearing impairment, autism spectrum disorder, and rare genetic conditions such as tuberous sclerosis. 

The Neurodisability and Rehabilitation Group at Murdoch Children’s Research Institute is focused on helping these children and their families by gaining an improved understanding of the causes of childhood disabilities, by optimising interventions and by implementing evidence based interventions into care and support. 

The ultimate goal is to prevent or minimise disabilities where possible, and to improve health, well-being and quality of life for children with disabilities and their families.

Our team has a strong track record of research in disability, and collaborates nationally and internationally. We work closely with the Department of Neurodevelopment and Disability at the Royal Children’s Hospital, the Victorian Paediatric Rehabilitation Service, and with the Department of Paediatrics at the University of Melbourne. Neurodisability and Rehabilitation currently includes approximately 80 paid and honorary staff. 

Neurodisability and Rehabilitation research has five main research streams:

Cerebral palsy & physical disability
Through our program of cerebral palsy research we aim to improve the way cerebral palsy is understood, detected and managed, and offer better support to children with a disability and their families. 

Our clinical research is focused on better approaches to preventing and detecting cerebral palsy early and on identifying effective interventions. Through a combination of clinical trials, systematic reviews, cohort studies and cross sectional studies we are working on improving the identification and management of movement disorders, pain, displaced hips, drooling and other co-morbidities associated with cerebral palsy. We have a strong knowledge translation focus and our close links to clinical care ensure evidence is taken up into clinical care and practice.

Recently we have started looking at outcomes for adolescents and young adults, through several projects that focus on identifying ways to improve social, cognitive and behavioural outcomes to enable young adults to live a healthy life. A large part of our work focuses on supporting the mental health of parents and carers of children with a disability. 

Our group houses the Victorian Cerebral Palsy Register which collects information on people with cerebral palsy who were born or are living in Victoria. The Register was established in 1986 and is now one of the largest cerebral palsy registers in the world. Using the Register, we conduct ongoing research describing, monitoring, and reporting on cerebral palsy in Victoria and Australia, including prevalence, type, topography, and severity of the movement disorder, comorbidities, neuroimaging patterns, aetiological pathways, use of health services, and mortality. For more information about the Register, please visit the VCPR website

Autism & intellectual disability

Our autism research aims to advance our understanding of autism and work towards improved personalised care, services, and supports for children with autism.

Our research is organised into two streams: discovery research to explore causal pathways of autism in specialised populations, and evaluating and improving best care for children and adolescents with autism and their families.

Some of our research focuses on neurobiological pathways to autism in children who lose skills (“autistic regression”), in twins and in children with known genetic conditions, such as tuberous sclerosis. We are also looking at the impact of gender, mental health and other co-morbidities on child and adolescent outcomes, including participation and quality of life. We also continually collect and evaluate data aimed at understanding the incidence, prevalence and diagnostic (including pathways to diagnosis) trends of autism in the community.

Ultimately we aim to build our knowledge to enable personalised care and improve health, wellbeing and quality of life for children with autism and their families.

Rehabilitation
Our rehabilitation research focuses largely on chronic fatigue syndrome, acquired brain injury and technology. 

Studies seek to understand chronic fatigue syndrome/ myalgic encephalomyelitis (CFS/ME) in children and adolescents, including brain structure and function, school functioning and clinical outcomes. In acquired brain injury, our research aims to improve evidence-informed rehabilitation for children with acquired brain injury and develop evidence-based clinical standards. We incorporate the perspective of children and parents as well as clinicians.  

We are also excited about the benefits technology can bring to rehabilitation, and are adapting a general purpose social robot for paediatric rehabilitation through in-situ design.
    
Genetics of neurodevelopmental disability
Genetics of neurodisability research aims to improve the lives of children with neurodisability through improved diagnosis and treatment. The majority of neurodevelopmental disabilities have a genetic cause, yet even using the latest genetic testing technologies, a specific cause is identified in only 25% of affected children. Moreover, many new genetic tests are not routinely available. Knowing the genetic cause is a key entry point for treatment, prevention and improving clinical care. Our research focuses on identifying genetic causes for a range of neurodevelopmental disabilities including intellectual disability, cerebral palsy, brain malformations and autism. 

We are also actively involved in the translation of new genomic testing technologies into clinical care. 

Psychiatry & behaviour
Our research focuses on developing a better understanding of the pathophysiology and underlying causes of ADHD, irritability, conduct disorder and depression using a range of approaches including neuropsychopharmacology, neuroimaging and genetics. We are developing personalised approaches to the treatment of child and adolescent mental health problems through the use and study of biomarkers, neurocognitive phenotypes, clinical trials, pharmacoepidemiology and patient reported outcomes.

We also aim to develop clinical pathways that facilitate the rapid transfer of research evidence into routine clinical practice.

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Cerebral Palsy

Research platforms

The Victorian Cerebral Palsy Register (VCPR)

Founded in 1986, the VCPR collects information on people with cerebral palsy who were born, lived, or received health services in the Australian state of Victoria since 1970. With over 6000 registrations to date, the VCPR is one of the largest cerebral palsy registers in the world. Register data are used to describe, monitor changes over time, and report prevalence, clinical and aetiological profiles, and survival for the Victorian cerebral palsy population. We contribute data to the Australian Cerebral Palsy Register and collaborate on national and international epidemiological projects. The VCPR is frequently used as a platform to facilitate other research. For more information about the VCPR, please visit the VCPR website.

Centre of Research Excellence – Cerebral Palsy

This is a new Centre of Research Excellence funded by the National Health and Medical Research Council in 2019. It brings together leading researchers and clinicians from across Australia and internationally to deliver a program of research in partnership with people who have cerebral palsy and their families. Our aims are to understand and address the health care and service needs of young people with cerebral palsy aged 10 – 30 years. Our vision is an Australia where people with cerebral palsy receive the best health care throughout their lives – not just in childhood – and live in, and contribute to, supportive communities that enable their participation. CP-Achieve stands for the Australian Centre for Health, Independence, Economic Participation and Value Enhanced care for adolescents and young adults with cerebral palsy. 

Key Projects

  • Improving understanding of MRI patterns, structure-function relationships and causal pathways in cerebral palsy
    This program has focussed on classifying patterns of injury on brain MRI scans, and relating these MRI findings to the type of cerebral palsy and the child’s level of function. This research has led to the development of a new classification of causal pathways in cerebral palsy and a body of research examining the importance of antecedent factors to each pathway. 
  • Exploring the use of stem cells in cerebral palsy
    This project looks at options for testing cord blood stem cells as a therapy for cerebral palsy in Australia. As part of a national collaboration, a small clinical trial focussing on safety of single dose intravenous cord blood cell infusion is in progress for children with cerebral palsy who have their sibling’s cord blood in storage. Please contact scubi.cp@mcri.edu.au to learn more.
     
  • Dyskinesia in children with cerebral palsy
    This national collaborative program of research has three streams: identification and measurement of dyskinesia, interventions and the lived experience. The program has research activities within each stream, led by a number of key clinician researchers from around Australia.
     
  • Pain in children with cerebral palsy and other developmental disorders
    This national program of research focuses on understanding the pain experience of children with cerebral palsy and developing accurate and innovative methods to identify and measure pain in this population of children. This will then lead on to studies of more effective pain management for children with developmental disabilities.
     
  • Preventing hip dislocation for young people with cerebral palsy
    Hip dislocation is a common and serious problem for children with cerebral palsy, affecting at least one third of children with cerebral palsy, especially those with more difficulty in walking. Hip dislocation causes severe pain and reduced function, but its impact can be lessened or prevented with timely monitoring and intervention. Working with stakeholders from across Victoria the project aims to ensure that every child in Victoria with cerebral palsy will have equitable access to hip surveillance by developing and establishing consistent processes.
     
  • Gene discovery in cerebral palsy 
    Although cerebral palsy has a number of possible causes, no cause is known for more than 10% of individuals and it is possible that there is an unidentified genetic contribution. Within the International Cerebral Palsy Genomics Consortium, we are assisting in a study looking for possible genetic associations with cerebral palsy. This study aims to collect DNA samples from patients with cerebral palsy where there is no known cause, to try to determine how often specific genetic changes are found and whether it is possible to discover new genes that may be associated with cerebral palsy.
     
  • The Prophylactic Antibiotics to Prevent Chest Infections In Children With Neurological Impairment Trial (PARROT)
    Many children with neurological impairments struggle with severe chest infections and frequently spend time in hospital and on high-dose antibiotics. The PARROT trial aims to find out whether children with neurological impairments do better when on constant preventative antibiotics. This is a joint United Kingdom and Australia multicentre randomised trial that will take place over five years at The Royal Children’s Hospital along with other sites in Australia. The trial is looking for children aged 3-17 years old with neurological impairment and persistent respiratory symptoms to take part in the trial. Please contact parrot.rct@mcri.edu.au to learn more.
     
  • The infant Wrist Hand Orthosis Trial (iWHOT) 
    Children with cerebral palsy are often prescribed hand orthoses (“splints”) to maintain hand movements and help them develop skills such as holding cutlery or toys. But orthoses are challenging for children to wear, time-consuming for therapists to make and for families to manage, and of uncertain benefit for the child. Our 3-year, multicentre trial aims to evaluate whether orthoses actually do help children with cerebral palsy to maintain hand movements and use their hands. We will also assess the impact on life quality and the cost of providing them. This study is a multi-centre randomised controlled trail partnering with clinical sites in Victoria, Western Australia, South Australia, Queensland and New South Wales. The trial is recruiting children aged less than 3 years with, or at risk of cerebral palsy. Please contact christine.imms@mcri.edu.au to learn more.

Autism Spectrum Disorder

Key Projects

  • Understanding the impact of autism in the community
    We are exploring autism incidence, prevalence and diagnostic trends in Australia using health, welfare, education and research data, in order to understand factors that may influence autism prevalence in this part of the world. This includes utilising data from specific regions in Australia such as the Barwon and Melton areas of Victoria (through the Victorian Collaborative Autism Study and Melton Developmental Differences Database), as well as Australia wide data derived from the Longitudinal Study of Australian Children and government health, welfare and education data.
     
  • Understanding the causes of Loss of Skills in autism
    One subgroup of children with autism show typical development before losing skills and then being diagnosed with autism, known as “autistic regression.” Although this onset of autism is well described, little is known about the sequence of skill loss, the biological mechanisms that produce it, and best practice for care once identified. The aim of this study is to recruit children who lose skills on the path to developing autism. Each child will participate in best practice clinical investigation, including one year follow-up assessment. Possible prognostic factors will be explored for individuals, and the group as a whole, and compared to prognostic factors for children with autism without regression. Parents and children will also be invited to contribute bio samples for future discovery investigations into understanding the cause(s) of skill loss.
     
  • Investigating the effectiveness and safety of bumetanide in children diagnosed with moderate to severe autism 
    Bumetanide is a diuretic that can change the balance of electrolytes in the brain. The use of electrolytes is altered for some individuals with autism spectrum disorder, and bumetanide may be able to moderate those effects. The aims of this clinical trial are to see if a twice daily dose of 0.5mg bumetanide can improve some of the core symptoms of autism, and also to assess the safety of bumetanide. The trial is randomised and placebo-controlled for the first six months of participant involvement, followed by a six month open label period. Internationally, this trial will include up to 200 children aged from 2 to less than 7 years.

Genetics of Neurodevelopmental Disability

Key project

  • Towards treatment of intellectual disability caused by errors in the chromatin machinery
    Intellectual disability occurs in 2-3% of newborns, for a variety of reasons, including environmental factors, chromosomal abnormalities and mutations in single genes. Intellectual disability results in lifetime dependency on family and societal support, yet traditionally, it has been viewed as an untreatable condition. However, recently it has been recognised that intellectual disability resulting from inborn errors in the chromatin machinery may be treatable. More than 40 genetic syndromes have so far been identified in this category, including Kabuki syndrome, KAT6A syndrome and Kleefstra syndrome. This project will focus on mutations in chromatin factors and chromatin-modifying enzymes found in patients with intellectual disability, because chromatin changes are reversible, and because these classes of molecules are well established as therapeutic targets in other disorders. This project will identify and characterize mutations in the chromatin machinery in infants and children with brain development disorders, delineate human phenotypes associated with these mutations, and characterize the phenotypic, cell biological, molecular and biochemical consequences of the patient-specific mutations in model systems. The longer term objective is to test potential therapeutic interventions in genetic models in vitro and in vivo. We anticipate that the investigation of the role of individual chromatin modifiers will go well beyond a specific syndrome and will provide an understanding of the regulation of gene expression in brain development and plasticity, potentially highlighting therapeutics for patients without mutations in these factors.

Rehabilitation

Chronic Fatigue Syndrome

Chronic Fatigue Syndrome (CFS), also known as Myalgic Encephalomyelitis (ME), is a debilitating and complex disorder characterised by profound, medically unexplained fatigue that is not improved by bed rest and may be worsened by physical or mental activity. Our comprehensive clinical research program aims to 1) better understand this condition and its progression, 2) evaluate interventions to effectively manage this condition and 3) embed evidence-based practice into clinical care. Ultimately, we want to improve the participation and quality of life of these adolescents.

Key projects

  • Understanding CFS/ME: a longitudinal study of fatigue, pain, sleep, school functioning, physical activity, emotional impact, family impact and quality of life
     
  • Longitudinal follow-up of changes in brain structure and function and its prediction of functional and clinical outcomes in adolescents with CFS/ME
     
  • Microstructural and metabolic brain changes in paediatric CFS/ME using diffusion-weighted magnetic resonance imaging and magnetic resonance spectroscopy
     
  • Biobanks, Big Data and ME: Establishing a global registry and biobank in Australia to drive discovery of blood biomarkers
     
Moderate to severe acquired brain injury

Many children with acquired brain injury (ABI) experience long-term physical, cognitive, academic, emotional-behavioural and occupational difficulties that require input from an interdisciplinary team. Due to these complexities, unwarranted variations in the care received by children with acquired brain injury exist. We aim to improve evidence-informed care in paediatric acquired brain injury rehabilitation by systematically identifying evidence-practice gaps and implementing tailored interventions to address these gaps. Areas of particular focus include family-centred care, peer support, goal setting, school reintegration, and fatigue assessment and management. We partner with family members and young people with lived experience of childhood acquired brain injury and the interdisciplinary clinical team. 

Technology

Everyday technology including smartphones, touch pads, smartwatches and the connected home have the potential to dramatically improve the lives of those with disability. Our experience talking with families is that many do not use the accessibility features freely available on their devices, and many are not aware of the potential benefits in using those features. There is also a dearth of scientific literature on the use and benefits of this technology for children with disability such as those with acquired brain injury, cerebral palsy, spinal cord injury, and chronic fatigue syndrome. We are working with Apple in developing this program (although will be assessing both Apple and Android). A part time technology officer with lived experience of disability has been employed since late 2019 to start work on the program. We aim to identify what benefits are available from everyday technology, how best to configure the devices, assess barriers to implementation, and develop training programs both for staff and families. A more formal research program will include a systematic review of everyday technology, needs analysis of families whose children have a range of disabilities, developing and assessing an everyday technology education program and implementing the program across Victoria at Victorian Paediatric Rehabilitation Services sites.

Child-onset Disability

Key projects

  • ENabling VISions And Growing Expectations (ENVISAGE) 
    New health concepts - notably WHO’s International Classification of Functioning, Disability and Health (ICF) – are changing the field of childhood disability. These ideas challenge us to embrace a holistic, strengths-based, family-centred approach to children’s health and development. Strong evidence supports this thinking, but there are significant gaps in awareness, understanding and uptake of these concepts. Our Australia/Canada team created and is delivering and evaluating an ‘ENVISAGE’ program for families (ENabling VISions And Growing Expectations – Families: ENVISAGE-F), to empower parents of children with a neurodevelopmental condition, enhance family well-being, and mitigate psychosocial morbidities to which these families are prone. The 5-week online program, co-designed with parents, covers five themes: i) a holistic approach to health, based on the ICF and our ‘F-words’ adaptation (function, family, fun, friendships, fitness, future); (ii) child and family development; (iii) challenges and joys of parenting in the context of childhood disability; (iv) balancing care-giving with self-care; and (v) skills to connect, communicate and collaborate. The project is currently recruiting parents/caregivers of children with a neuro-developmental disability aged <6 years. Because families and service providers have consistently identified and argued for the need to adapt ENVISAGE-F for service providers, we are now in the process of doing so. If you want to know more about the ENVISAGE program of research, please contact christine.imms@mcri.edu.au.
     
  • Mental health and participation in (re)habilitation for children and youth with disabilities
    Mental health problems and participation restrictions are frequently reported for children with disabilities. There is little information on the long-term relationships between mental health and participation in the presence of child-onset disability, or about how mental health is affected by (re)habilitation services provided for these children and families. This collaborative program of research is being led by a Swedish research team (Professor Mats Granlund) and will investigate relations between participation and factors affecting participation with a focus on mental health and services provided to children with disabilities who have mental health problems. The program is in two parts: (i) children will be followed for 5 years to collect long-term outcome data on participation and mental health; and (ii) children, parents and professionals will collaborate to develop and evaluate methods for involving children and parents in the (re)habilitation intervention process. There is an opportunity for an Australian doctoral scholarship within this program of work. For more information, contact christine.imms@mcri.edu.au
     
  • Implementation of an evidence-based intervention (PREP) in an Australian context with youth with complex disability and evaluation of involvement of consumer research partners (CEval)
    This consumer-researcher collaborative study includes two concurrent and interdependent projects: (1) a translational study to identify feasibility and applicability of the Pathways and Resources for Engagement and Participation (PREP) intervention for young adults with complex disability (PREP) project when translated to an Australian context; and (2) an evaluation of the experience and impact of involving consumers as co-researchers (Consumer Evaluation project (CEval project)). PREP has demonstrated effectiveness in younger populations in Canada to improve participation in community recreation of adolescents with disability. We are working with the developer of PREP (Anaby) to customize and evaluate feasibility and applicability of using PREP to improve participation in community activities of young adults who attend the St Vincent’s Complex Disability Clinic or the Cerebral Palsy Support Network in Melbourne. Consumer partnership in research is best practice, and we are involving consumers as co-researchers and on the Research Advisory Partners (RAP) in the PREP project. We are also evaluating advisors’ and researchers’ experiences and the impact of consumer involvement on the PREP project. If you would like further information, please contact christine.imms@mcri.edu.au

Support Evaluation

Key project

  • Extending remote family well-being support for children with neurodevelopmental disability
    The COVID pandemic has created substantial additional challenges for children with neurodevelopmental disabilities and their families. It has also created the need for health services to rapidly adapt models of service delivery with increased use of telehealth and remote support. During the COVID-19 pandemic we are adapting and extending our existing model of family well-being-support for children identified with additional vulnerabilities through the EXTEND project [Extending remote family well-being support for children with neurodevelopmental disability]. We will evaluate the acceptability and feasibility of the adapted model of support from caregiver and health-service provider perspectives to understand lessons learned for ongoing models of family well-being support throughout and beyond the pandemic.
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