Horizon science academy fight8/7/2023 ![]() This general lack of understanding extends to support services. Others affect inflammation or the production of amino acids. Other forms of childhood dementia result from mutations affecting the function of the mitochondria – structures within the cell that generate the energy it needs to function – or altering production of key neuronal proteins, as occurs in juvenile Huntington’s disease. If a mutation compromises the function of those enzymes – as occurs in diseases such as Tay-Sachs disease and mucopolysaccharidosis – it can lead to a build-up of waste materials inside the cells of the brain, which eventually becomes toxic to the cell. ![]() Lysosomes are the waste disposal units inside cells, containing enzymes that break down cellular waste into nutrients and resources that can then be reused by the cell. For example, the largest group of diseases are lysosomal storage disorders. ![]() Hemsley is one of a growing number of researchers trying to understand the mechanisms behind the neurodegeneration of childhood dementia.Įach underlying genetic disease affects a different aspect of brain function, but there are some patterns. It can also help researchers working on treatments and cures for the otherwise rare genetic diseases that leading to childhood dementia, many of whom are working in isolation around the world. “Hopefully that leads to momentum and real change for these families.” “They lead to dementia, so we need to start talking about them in a way everyone understands what they are the tragic consequences of them,” says Hemsley, who leads the Childhood Dementia Research Group at the Flinders Health and Medical Research Institute in Adelaide. The neuroscientist Prof Kim Hemsley says it makes sense to group these diseases in children under one overarching term. “It’s more common than cystic fibrosis.”Īdult dementia itself is also an umbrella term for a range of neurodegenerative diseases. “I think everybody was quite surprised at how, as a collective group, the impact was significant,” Maack says. They became determined to fight as hard as they could for their boys.Īs soon as the Childhood Dementia Initiative grouped these conditions, the devastation of childhood dementia became clear. “You mean there’s nothing? There’s absolutely no treatment?” she recalls saying. Their immediate response was utter shock, then distress. This is what Teresa and husband, Steven, were told when Ethan was diagnosed. “The line that I hear every Sanfilippo family say is that they tell you ‘There’s nothing we can do, there’s no cure just go home and love your boys’,” Lloyd says. But what unites them is the gradual degradation they cause in young brains – and the lack of treatments or cures. Most people will have never heard of them – Tay-Sachs disease, Sanfilippo syndrome, Farber’s disease, Rett syndrome and juvenile Parkinson’s disease, to name a few – and each is characterised by a different inherited genetic mutation. They tell you ‘there’s nothing we can do, there’s no cure just go home and love your boys’ Teresa LloydĬhildhood dementia is caused by any one of around 70 rare genetic diseases. Three-quarters of them will die before their 18th birthday. ![]() It affects one in 2,800 children, and around 2,300 young Australians are currently living with childhood dementia. It does not evoke pictures of young children bursting with energy and joy and life.īut childhood dementia takes more young lives each year in Australia than childhood cancer. Ronin, for now, is not showing obvious signs of his development slowing.ĭementia is term that conjures images of elderly people in aged care, unable to recognise family or friends, lost in a fog of confusion and disorientation.
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