Charlotte Colley is mostly just like any other two-year-old, going to day-care, splashing about in the pool or at the beach, and having no problems letting her parents Brett Colley and Sarah Matthews know exactly what she wants – but no one knows if she will ever be able to walk, talk, or swallow food.
In November, she was diagnosed with Cockayne syndrome, an extremely rare and inherited condition affecting the neurological development of children, reports The Sydney Morning Herald.
It is one of more than 150 rare genetic conditions Australian scientists have identified as causing dementia in children, in world-first research that hopes to boost scientific and public understanding of a condition most people don’t even know exists.
The study, published in the journal Brain, estimated that more than 100 babies born in Australia each year will develop childhood dementia, a similar number to those born with cystic fibrosis.
The 91 Australians who died from the condition in 2021 are only slightly fewer than the number of children who died from cancer before the age of 15.
The conditions are all marked by a period of development before the often rapid onset of symptoms of premature ageing. Life expectancy is just nine years, and 70% don’t live to see their 18th birthdays.
Lead author Dr Nick Smith, from Adelaide University, said some of the genetic abnormalities that cause dementia in adults can also cause dementia in children, such as the defect in one gene that causes both Gaucher’s disease in children and Parkinson’s in adults.
“The usual reaction you get is that this doesn’t happen to children, but quite the contrary; this is a condition with which young people in our community are dealing,” he said.
Megan Maack, who commissioned the research as chief executive and director of the Childhood Dementia Initiative, said grouping the conditions together for the first time would help researchers and policymakers understand the scale of the problem.
“Historically, the hundred-plus conditions that cause childhood dementia have been understood in isolation, and so the way we research, the way we care, the way we set policy, has been very fragmented,” she said.
“While the genetic cause is different, the challenges families face are all common, so it makes sense to look at them all together.”
Maack, who has two children with childhood dementia caused by Sanfilippo syndrome, said most families received support through the NDIS (the government National Disability Insurance Scheme that funds costs associated with disability), but had to fight to receive proper care for their children.
“Getting a diagnosis for one of these conditions is really difficult,” she said. “And once they’re diagnosed, there are no care pathways, no consistent models of care … palliative care services aren’t set up to care for kids with childhood dementia.”
Matthews, said she was proud of the way Australia’s medical system had supported their daughter, but the past two years had been a constant search for answers involving dozens of medical specialists and few explanations.
“If there are going to be gene therapies, and we’re hopeful that there will be, then early diagnosis and early treatment will be absolutely critical.”
Study details
The collective burden of childhood dementia: a scoping review
Kristina Elvidge, John Christodoulou, Michelle Farrar, Dominic Tilden, Megan Maack, Madeline Valeri, Magda Ellis, Nicholas Smith, the Childhood Dementia Working Group.
Published in Brain on 20 July 2023
Abstract
Childhood dementia is a devastating and under-recognised group of disorders with a high level of unmet need. Typically, monogenic in origin, this collective of individual neurodegenerative conditions are defined by a progressive impairment of neurocognitive function, presenting in childhood and adolescence. This scoping review aims to clarify definitions and conceptual boundaries of childhood dementia and quantify the collective disease burden.
A literature review identified conditions that met the case definition. An expert clinical working group reviewed and ratified inclusion. Epidemiological data were extracted from published literature and collective burden modelled.
One hundred and seventy genetic childhood dementia disorders were identified. Of these, 25 were analysed separately as treatable conditions. Collectively, currently untreatable childhood dementia was estimated to have an incidence of 34.5 per 100 000 (1 in 2900 births), median life expectancy of nine years and prevalence of 5.3 per 100 000 persons. The estimated number of premature deaths per year is similar to childhood cancer (0-14 years) and approximately 70% of those deaths will be prior to adulthood. An additional 49.8 per 100 000 births are attributable to treatable conditions that would cause childhood dementia if not diagnosed early and stringently treated.
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/).
We present the first comprehensive overview of monogenic childhood dementia conditions and their collective epidemiology. Unifying these conditions, with consistent language and definitions, reinforces motivation to advance therapeutic development and health service supports for this significantly disadvantaged group of children and their families.
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