Study defines 145 genetic disorders that cause childhood dementia

Wednesday, 20 September, 2023

Study defines 145 genetic disorders that cause childhood dementia

Researchers from the University of Adelaide, the Childhood Dementia Initiative, the University of New South Wales, Murdoch Children’s Research Institute (MCRI) and leading Australian clinicians have defined 145 genetic disorders that cause childhood dementia.

The findings have been published in international medical journal Brain, with the research conducted at the MCRI and supported by the Victorian Government’s Operational Infrastructure Support Program.

“The 145 disorders we have classified as childhood dementia are complex and varied. Tragically, what they share in common is the heartbreaking, progressive neurocognitive decline and a severely shortened life expectancy,” said Dr Nicholas Smith, Head of Paediatric Neurodegenerative Diseases Research Group at the University of Adelaide.

According to the research, childhood dementia results from progressive brain damage caused by a collection of genetic disorders, and as with adults, children experience symptoms such as memory loss, confusion, personality changes, severely disturbed sleep and difficulty concentrating, understanding, learning and communicating.

The study, which involved analysis of published data from Australia and overseas, and modelling by health economists at Thema Consulting, showed dementia symptoms typically start when the patient is two and a half years old, with the average age of diagnosis around four years old. Average life expectancy for patients is just nine years, with 70% of children dying before they turn 18.

This study estimated that 91 Australians die from childhood dementia each year — a similar number to those that die from childhood cancer (0–14 years).

“Whilst there is significant resourcing for adult-onset dementia, similar services do not exist for childhood onset disease, despite their need,” Smith said.

“Currently, treatment options are severely limited, hard to access and research to develop effective treatments and cures is poorly funded. Improvements to care and support for affected families are also desperately needed and we hope this new research will lead to better outcomes for these children.”

The release of the results of this study coincide with Childhood Dementia Day, held on 20 September.

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