Dementia is a very common symptom of neurodegenerative diseases characterized by a loss of memory, language, and other problem-solving abilities ("What is dementia?," n.d.). This results in a steep decline in cognitive functioning, largely due to neurological deterioration. Some of the most common causes of dementia include Alzheimer’s, Vascular dementia, Lewy body dementia and other old-age onset diseases ("What is dementia?," n.d.). However, while dementia is generally seen in older populations as neuronal degradation, it can be found among children as well. Childhood dementia refers to a group of over 100 rare conditions characterized by neurodegenerative properties (Djafar et al., 2022). These conditions not only cause the waning of skills and memory, but are often associated with shorter life expectancy (Djafar et al., 2022). Considering that despite being rare, one in 2800 children develop childhood dementia (Childhood Dementia Initiative, 2020), and a lack of awareness and treatment in the field, it becomes necessary to explore the genetic causes and possible treatments for this group of diseases.
Childhood dementia is often marked by lasting, irreversible and progressive decay of skills previously acquired during the developmental period (Haugen et al., 2019). In particular, childhood dementia needs to be differentiated from intellectual disability or other developmental difficulties. While in developmental decay and difficulties, the rate of overall development tends to be slower than the average, childhood dementia shows a very different curve (see Figure 1), where children tend to follow the normal patterns of development until a certain age, after which a slow decline in development is seen (Haugen et al., 2019). Thus, childhood dementia is concerned with a ‘loss’ of previously acquired development, while other developmental difficulties generally show slower ‘rates of development.
Due to the neurologically complex dimensions of childhood dementia, as well as a lack of knowledge in the medical field itself, misdiagnosis is very common. In particular, diagnoses of autism, ADHD, and other developmental decay-related difficulties are often made first before childhood dementia can be accurately diagnosed. This can be seen in the case of Abby Wallace, who originally was an active child, at age 22 shows severe difficulties with speech and motor abilities (ABC13 Houston, 2018, 00:00). She was originally diagnosed with autism, however as her speech started waning, her parents conducted brain imaging scans showing that she had Sanfilippo syndrome, one of the diseases causing childhood dementia (ABC13 Houston, 2018, 01:03).
Some of these disorders are also associated with seizures and other movement difficulties such as muscle spasms and tremors, as well as reduced neuromotor functioning. Angelina, a young girl, suffered her first seizure at age 14, despite her having no abnormal cognitive or motor functioning prior to the seizure (Childhood Dementia Initiative, 2020). As the rate of such seizures increased, Angelina was first diagnosed with epilepsy, before symptoms of cognitive decline began to show. Her mom, Niki, states:
“She came home very upset one day because her friends had lost patience with her during a game of UNO. She wasn’t following the cards’ directions and she wasn’t aware when it was her turn.” (Childhood Dementia Initiative, 2020, p. 16)
After further testing, Angelina was finally diagnosed with Lafora disease, characterized by difficulties in walking, behavioural changes and cognitive decline (Childhood Dementia Initiative, 2020). Even a few years post-onset, children have difficulty doing daily activities that were once normal for them.
The causes of childhood dementia can largely be attributed to biological difficulties, particularly inherited metabolic disorders, affecting the metabolism of certain essential nutrients and impaired cell functioning (Childhood Dementia Initiative, 2020). In Australia, a burden study conducted to assess the prevalence and aetiology of childhood dementia showed that most cases of childhood dementia were the result of lysosomal diseases (21%) (Tilden et al., 2020). Thus, childhood dementia has multiple causal bases, which can be identified through further research in order to ensure targeted medication and therapy to those afflicted.
Childhood dementia also causes distress for the families of these children. As part of the Australian Childhood Dementia Study conducted by Nunn et al. (2002), a questionnaire was administered to the parents to assess the psychosocial impact of childhood dementia. Results showed that most parents stated that they were “markedly or extremely affected”. A more alarming finding was that a large proportion of clinicians were unaware of the impact of the child’s condition on the siblings and or marriage (Nunn et al., 2002). This points to the high levels of ignorance about issues of childhood dementia and how to treat them, which require more awareness programmes. The Childhood Dementia Initiative aspires to ensure adequate research in these areas in order to provide the suffering children and families with the required care to lead a fulfilling life. They aim to focus on understanding dementia as a commonality among the various genetic disorders, so as to focus research on coming up with possible routes for therapy (“Our focus,” n.d.).
The treatment of childhood dementia is largely rooted in the disorders they stem from. Due to their genetic bases, most of these disorders have specialized treatments, but as of now, only 5% of all conditions resulting in childhood dementia have any form of treatment (Childhood Dementia Initiative, 2020). Most of the other disorders rely on palliative care and dietary changes as treatment, which have at best shown to only slow down the symptoms of these neurodegenerative diseases. Enzyme Replacement Therapies (ERTs) (Schulz et al., 2018) and bone-marrow transplants (Boelens et al., 2014) have also been suggested as alternate forms of treatment; however, their long-term effectiveness is unknown. Despite multiple forms of treatment still in clinical trials ( (Childhood Dementia Initiative, 2020), the differences between the various disorders encompassing childhood dementia make it difficult to assess its true efficacy.
The Nunn et al. (2002) study also showed that support was necessary for families of those who suffer from childhood dementia, including supportive counselling for parents, marital counselling, as well as financial support and home care. Especially due to the child being affected, the type of care required is very intensive and might not necessarily be met through hospice care (Nunn et al., 2002). However, various charities and campaigns started by parents of such children provide a glimmer of hope for more awareness and acknowledgement, boosting further research into the causes and possible treatments and therapies for childhood dementia.
References
ABC13 Houston. (2018, June 24). The Childhood Alzheimer’s Disease [Video]. YouTube. https://www.youtube.com/watch?v=r9M2Rq5bB64
Alzheimer's Association. (n.d.). What is dementia? Alzheimer's Disease and Dementia. Retrieved December 11, 2022, from https://www.alz.org/alzheimers-dementia/what-is-dementia
Boelens, J. J., Orchard, P. J., & Wynn, R. F. (2014). Transplantation in inborn errors of metabolism: Current considerations and future perspectives. British Journal of Haematology, 167(3), 293–303. https://doi.org/10.1111/bjh.13059
Childhood Dementia Initiative. (2020). Childhood Dementia: the case for urgent action. [White paper]. https://d1iap1m2kaw9nt.cloudfront.net/8c8d53b3f3f629c530cad2df51ef1f74.pdf
Childhood Dementia Initiative. (n.d.). Our focus. Our approach. Retrieved December 11, 2022, from https://www.childhooddementia.org/our-approach
Djafar, J. V., Johnson, A. M., Elvidge, K. L., & Farrar, M. A. (2022). Childhood dementia: A collective clinical approach to advance therapeutic development and care. Pediatric Neurology. https://doi.org/10.1016/j.pediatrneurol.2022.11.015
Haugen, P. K., von Tetzchner, S., Oxley, J. D., Elmerskog, B., & Rokne, S. (2019). Dementia in Adulthood and Childhood . In S. von Tetzchner, B. Elmerskog, & A.-G. Tøssebro (Eds.), Juvenile neuronal ceroid lipofuscinosis, childhood dementia and education: Intervention, education and learning strategies in a lifetime perspective (pp. 75–80). essay, Snøfugl.
Nunn, K., Williams, K., & Ouvrier, R. (2002). The Australian Childhood Dementia Study. European Child & Adolescent Psychiatry, 11(2), 63–70. https://doi.org/10.1007/s007870200012
Schulz, A., Ajayi, T., Specchio, N., de Los Reyes, E., Gissen, P., Ballon, D., Dyke, J. P., Cahan, H., Slasor, P., Jacoby, D., & Kohlschütter, A. (2018). Study of intraventricular cerliponase alfa for cln2 disease. New England Journal of Medicine, 378(20), 1898–1907. https://doi.org/10.1056/nejmoa1712649
Tilden D, Valeri M and Ellis M (2020) ‘Childhood dementia in Australia: quantifying the burden on patients, carers, the healthcare system and our society’. Report for Childhood Dementia Initiative. THEMA Consulting Pty Ltd. https://www.childhooddementia.org/burdenstudy
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