Poster Presentation International Congress on Neuronal Ceroid Lipofuscinoses 2025

The Collective Burden of Childhood Dementia: A Unified Approach For Greater Awareness and Action (#1)

Kristina L. Elvidge 1 , Michelle A. Farrar 2 3 , John Christodoulou 4 5 , Dominic Tilden 6 , Megan Maack 1 , Gail Hilton 1 , Alexandra M. Johnson 2 3 , Marc C. Patterson 7 , Simon A. Jones 8 , Sameer M. Zuberi 9 10 , Jo M. Wilmshurst 11 , Maina P. Kava 12 , Nicholas J.C. Smith 13 14
  1. Childhood Dementia Initiative, Brookvale, NSW, Australia
  2. Discipline of Paediatrics, School of Clinical Medicine, UNSW , Sydney, NSW, Australia
  3. Department of Neurology, Sydney Children's Hospital, Randwick, NSW, Australia
  4. Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia
  5. Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia
  6. THEMA Consulting Pty Ltd, Milsons Point, NSW, Australia
  7. Departments of Neurology, Pediatrics and Clinical Genomics, Mayo Clinic Children’s Center, Rochester, MN, USA
  8. Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, United Kingdom
  9. Paediatric Neurosciences Research Group, School of Health and Wellbeing, University of Glasgow, Glasgow, Scotland, United Kingdom
  10. Royal Hospital for Children, Glasgow, Scotland, United Kingdom
  11. Department of Paediatric Neurology, Red Cross War Memorial Children’s Hospital, Cape Town, Western Cape, South Africa
  12. Departments of Neurology and Metabolic Medicine, Perth Children’s Hospital, Perth, Western Australia, Australia
  13. Discipline of Paediatrics , University of Adelaide, North Adelaide, South Australia, Australia
  14. Department of Neurology and Clinical Neurophysiology, Women’s and Children’s Health Network, North Adelaide, South Australia, Australia

Childhood dementia encompasses a devastating group of disorders that collectively impact hundreds of thousands of children worldwide. Neuronal ceroid lipofuscinoses are an important subgroup within this broader spectrum. Despite sharing common clinical phenotypes and pathophysiological mechanisms, these conditions have traditionally been studied as individual rare diseases. The collective childhood dementia approach has the potential to drive forward progress collaboratively in therapeutic development and systemic healthcare improvements.

We conducted a comprehensive scoping review identifying 145 genetic conditions meeting childhood dementia criteria, defined as progressive neurocognitive decline presenting before 18 years with multiple developmental skill losses. Epidemiological data were extracted from published literature and collective disease burden was modelled.

The collective incidence of childhood dementia was 1 in 2900 births. Median life expectancy is 9 years, with 70% of deaths occurring before adulthood. The majority (66%) are inborn errors of metabolism, with lysosomal disorders (22.4%) and mitochondrial disorders (20.3%) diseases among the largest categories. Diagnostic delays of 2-6 years from symptom onset are common across conditions. Annual premature deaths approximate those from childhood cancer in high income countries, yet research funding and therapeutic options remain severely limited.

Unifying genetically distinct but phenotypically similar conditions under the childhood dementia classification mirrors the approach taken for adult-onset dementia and reveals opportunities for collaborative research. Considering dementia across the life span promotes collaboration on shared disease mechanisms such as neuroinflammation, lysosomal and mitochondrial dysfunction and lipid accumulation. The unified framework creates efficiencies in clinical trial design, biomarker development, regulatory processes and precision medicine platforms. In addition, it strengthens global advocacy efforts and enables systemic improvements in health care delivery and community support services. Many expert clinicians and researchers internationally are recognising the tangible progress that the collective childhood dementia approach is enabling and calling for greater awareness and action globally.

  1. Elvidge KL, Christodoulou J, Farrar MA, et al. The collective burden of childhood dementia: a scoping review. Brain. 2023;146(11):4446-4455. doi:10.1093/brain/awad242
  2. Elvidge KL, Farrar MA, Christodoulou J, et al. Childhood Dementia: The Collective Impact and the Urgent Need for Greater Awareness and Action. Pediatr Neurol. 2025;164:A6-A7. doi:10.1016/j.pediatrneurol.2025.02.005