Severely reduced life expectancy as a whole. Median life expectancy of 9 years
Childhood dementia is an umbrella group consisting of over 100 rare neurodegenerative conditions. These are typically genetic, that cause progressive cognitive decline and the loss of previously acquired skills (e.g: talking, walking, reading/writing, etc). The group of conditions has a very poor prognosis on average, as the progression of cognitive decline and other symptoms/complications have a very significant impact on the life expectancy and quality of those affected. Neuronal ceroid lipofuscinoses, a group of lysosomal storage disorders, are the most common cause of childhood dementia.[1]
Their main characteristics are chronic and widespread cognitive decline;[2][7][3] loss of previously acquired developmental skills after a period of typical development;[2][7][3] and behaviours and psychological symptoms of dementia (BPSD).[7]
The prognosis for childhood dementia is generally poor, with most children experiencing a significant decline in cognitive and motor function. Life expectancy varies depending on the underlying cause, but it is often significantly reduced. Studies show that only 25–29% of affected individuals survive to adulthood, and only 10% reach the age of 50.[2]
The median life expectancy is around 9 years, whereas the average life expectancy is 16.3 years.[2]
Signs and symptoms
By their usual definitions, childhood dementias always cause global neurocognitive decline, typically beginning after a period of seemingly normal development.[8]
This progressive decline causes difficulty concentrating, memory loss, confusion, and learning difficulties,[5] in addition to the loss of developmental skills acquired previously, such as: walking, talking, writing, reading, and playing.[5][9] Eventually the body loses its ability to function, leading to an early death.[8][5][9]
Other symptoms and complications can occur depending on the subtype.[2]
Other symptoms:
Behavioral changes: Changes in one's personality,[10] aggression, and hyperactivity.[6]
The majority of childhood dementia cases are caused by genetic mutations that lead to neurodegenerative diseases. The most frequent cause is neuronal ceroid lipofuscinoses (NCL), a family of lysosomal storage disorders.[1] Other causes include mitochondrial diseases, peroxisomal disorders, and other genetic disorders affecting brain function.[11]
Diagnosis
Diagnosis typically involves a combination of biochemical testing and genetic testing, often performed around the age of four. Early diagnosis is crucial for managing symptoms and improving the quality of life for those affected.[2] In most cases, childhood dementia is diagnosed after developmental regression is observed.
Management
There is no treatment for most forms of childhood dementia. For these untreatable conditions, treatment focuses on managing symptoms and improving quality of life.
Supportive care: This includes comprehensive care to address complications related to mobility, feeding, breathing, and communication.[6] Supportive care measures are customized for each patient and may include:
Palliative care to ensure comfort and quality of life as the disease progresses.[12]
Epidemiology
Current estimates place the incidence of childhood dementias at 1 in 1186 births.[2] This is higher than the incidence of some diseases with more widespread awareness, such as cystic fibrosis[4] (affecting around 1 in 3000-4000 births)[13] and spinal muscular atrophy (around 1 in 11000 births).[2][14]
Meanwhile, the estimates for the prevalence are lower, at 1 in 3484 people in the general population[2] and 1 in 1715 among children.[2]
History
The concept of childhood dementia gained recognition in the early 20th century with the identification of Batten disease, one of the first known forms of childhood dementia, by British neurologist Frederick Batten in 1903.[15]
^Di Rocco, Giorgio; Tagliavini, Fabio; Di Fede, Giovanni; Pinessi, Lorenzo (2001). "Childhood Dementia Due to Neurodegenerative Diseases". Journal of Child Neurology. 16 (9): 679–685. doi:10.1177/088307380101600909.