Childhood dementia: the collective impact and opportunities for intervention

Abstract

AbstractBackgroundChildhood dementia is a devastating and under‐recognised group of conditions with a high level of unmet need. Typically monogenic in origin, this collective of neurodegenerative conditions are defined by a progressive impairment of neurocognitive function, presenting in infancy, childhood or adolescence.MethodWe undertook a scoping review and burden of illness study to understand the spectrum of childhood dementia conditions and their impact. A literature review identified conditions that met the case definition and an expert clinical working group reviewed and ratified inclusion. Epidemiological data were extracted from published literature and collective incidence, prevalence and life expectancy were modelled.ResultOver 140 individual genetic conditions were identified that can be consistently defined as childhood dementia with the largest proportion of births belonging to the lysosomal disease and mitochondrial disease categories. Collectively the incidence is surprisingly high at 1 in 2,900 births and the life expectancy is low, with most affected children not surviving into adulthood. A relational database of the childhood dementia disorders has been created and will be continually updated as new disorders are identified (https://knowledgebase.childhooddementia.org/).ConclusionThis scoping review highlights the importance of grouping these conditions as a phenotypic syndrome, rather than individually rare diseases, in keeping with the approach to adult dementia. Opportunities exist to address overlapping disease mechanisms and utilise therapeutic platforms for multiple childhood dementia conditions to tap into significant economies of scale. Collaboration with adult dementia researchers on common disease attributes is also expected to be mutually beneficial.By unifying these conditions, we have highlighted the many unmet needs of this significantly disadvantaged group of children and young people and the data presented here will enable advocacy for systemic change in treatment, care, and support for them and their families.