"Childhood" and "dementia" are two words we wish we didn't have to use together. But sadly, around 1,400 Australian children and young people live with currently untreatable childhood dementia.
Authors
Kim Hemsley
Head, Childhood Dementia Research Group, Flinders Health and Medical Research Institute, College of Medicine and Public Health, Flinders University
Nicholas Smith
Head, Paediatric Neurodegenerative Diseases Research Group, University of Adelaide
Siti Mubarokah
Research Associate, Childhood Dementia Research Group, Flinders Health and Medical Research Institute, College of Medicine and Public Health, Flinders University
Broadly speaking, childhood dementia is caused by any one of more than 100 rare genetic disorders. Although the causes differ from dementia acquired later in life, the progressive nature of the illness is the same.
Half of infants and children diagnosed with childhood dementia will not reach their tenth birthday, and most will die before turning 18.
Yet this devastating condition has lacked awareness, and importantly, the research attention needed to work towards treatments and a cure.
More about the causes
Most types of childhood dementia are caused by mutations (or mistakes) in our DNA. These mistakes lead to a range of rare genetic disorders, which in turn cause childhood dementia.
Two-thirds of childhood dementia disorders are caused by "inborn errors of metabolism". This means the metabolic pathways involved in the breakdown of carbohydrates, lipids, fatty acids and proteins in the body fail.
As a result, nerve pathways fail to function, neurons (nerve cells that send messages around the body) die, and progressive cognitive decline occurs.
What happens to children with childhood dementia?
Most children initially appear unaffected. But after a period of apparently normal development, children with childhood dementia progressively lose all previously acquired skills and abilities, such as talking, walking, learning, remembering and reasoning.
Childhood dementia also leads to significant changes in behaviour, such as aggression and hyperactivity. Severe sleep disturbance is common and vision and hearing can also be affected. Many children have seizures.
The age when symptoms start can vary, depending partly on the particular genetic disorder causing the dementia, but the average is around two years old. The symptoms are caused by significant, progressive brain damage.
Are there any treatments available?
Childhood dementia treatments currently under evaluation or approved are for a very limited number of disorders, and are only available in some parts of the world. These include gene replacement, gene-modified cell therapy and protein or enzyme replacement therapy. Enzyme replacement therapy is available in Australia for one form of childhood dementia. These therapies attempt to "fix" the problems causing the disease, and have shown promising results.
Other experimental therapies include ones that target faulty protein production or reduce inflammation in the brain.
Research attention is lacking
Death rates for Australian children with cancer nearly halved between 1997 and 2017 thanks to research that has enabled the development of multiple treatments. But over recent decades, nothing has changed for children with dementia.
In 2017-2023, research for childhood cancer received over four times more funding per patient compared to funding for childhood dementia. This is despite childhood dementia causing a similar number of deaths each year as childhood cancer.
The success for childhood cancer sufferers in recent decades demonstrates how adequately funding medical research can lead to improvements in patient outcomes.
Another bottleneck for childhood dementia patients in Australia is the lack of access to clinical trials. An analysis published in March this year showed that in December 2023, only two clinical trials were recruiting patients with childhood dementia in Australia.
Worldwide however, 54 trials were recruiting, meaning Australian patients and their families are left watching patients in other parts of the world receive potentially lifesaving treatments, with no recourse themselves.
That said, we've seen a slowing in the establishment of clinical trials for childhood dementia across the world in recent years.
In addition, we know from consultation with families that current care and support systems are not meeting the needs of children with dementia and their families.
New research
Recently, we were awarded new funding for our research on childhood dementia. This will help us continue and expand studies that seek to develop lifesaving treatments.
More broadly, we need to see increased funding in Australia and around the world for research to develop and translate treatments for the broad spectrum of childhood dementia conditions.
Dr Kristina Elvidge, head of research at the Childhood Dementia Initiative, and Megan Maack, director and CEO, contributed to this article.
Kim Hemsley has previously received research funding from Lysogene and Shire Human Genetic Therapies, companies seeking to develop treatments for childhood dementia. Kim Hemsley has received funding from the Australian NHMRC and MRFF in addition to the Sanfilippo Children's Foundation (Australia), Cure Sanfilippo (US), National MPS Society (US), Sanfilippo Foundation Switzerland, Women's and Children's Foundation, Little Heroes Foundation and the SA Government. Kim is a Childhood Dementia Initiative Scientific and Medical Advisory Committee member, a Sanfilippo Children's Foundation (Australia) Scientific Advisory Board member and is currently Chair, Scientific Advisory Board to the National MPS Society (USA). All roles are voluntary.
Nicholas Smith receives institutional research funding from BlueBird Bio, Ultragenyx and Cyclo Therapeutics. He receives consulting fees (under academic institutional contract) from Forge Biologics. All listed companies are biotechnology companies developing therapies including for diseases within the childhood dementia spectrum. He has received funding from the Medical Research Future Fund, Sanfilippo Children's Foundation and the Women and Children's Hospital Foundation for research developing therapies for childhood dementia. He is a member of the Scientific and Medical Advisory Board, Childhood Dementia Initiative; Scientific Advisory Board, Sanfilippo Children's Foundation; Scientific Advisory Board, Batten's Disease Support and Research Foundation; Rare Finds Foundation Board, and a committee member of the Australian Mitochondrial Disease Medical Network. All are voluntary with no pecuniary interest. He is a consultant neurologist involved in the care of patients with childhood dementia and Chief / Primary Investigator on multiple national / international trials across disorders within the childhood dementia spectrum.
Siti Mubarokah receives funding from Sanfilippo Children's Foundation, The Little Heroes Foundation and SA Government.
