Childhood dementia

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Childhood dementia
Other namesPediatric dementia
Specialty Neurology, Psychiatry, Pediatrics
Symptoms Loss of previously acquired developmental skills, seizures, cognitive decline
Usual onsetChildhood or adolescence
DurationProgressive
CausesGenetic disorders, neurodegenerative diseases
Diagnostic method Biochemical testing, genetic testing
TreatmentMost constituent disorders are untreatable and patients receive symptom management (medication, )
Prognosis Severely reduced life expectancy as a whole. Median life expectancy of 9 years

Childhood dementia is an umbrella group of rare, mostly untreatable neurodegenerative disorders that show symptoms before the age of 18. These conditions cause progressive deterioration of the brain and the loss of previously acquired skills, including: talking, walking, and playing.

Contents

Other symptoms and complications are the loss of movement, vision, and hearing; seizures; and cardiorrespiratory, bone, and joint problems. As the conditions progress, so does their impact on life expectancy, quality of life. Due to this, most conditions in the group have a poor prognosis and cause a high degree of dependence as they progress.

Childhood dementia is genetic and progressive, distinguishing it from other sources of cognitive decline like traumatic brain injury and nutrient deficiencies.

Classification and terminology

Childhood dementias are a heterogenous [1] [2] [3] group of genetic [4] [5] neurodegenerative disorders, [6] [2] that present symptoms before the age of 18. [1] They are typically monogenic (caused by mutations of a single gene). [1]

Their main characteristics are chronic and widespread cognitive decline; [1] [7] [2] loss of previously acquired developmental skills after a period of typical development; [1] [7] [2] and behaviours and psychological symptoms of dementia (BPSD). [7]

Childhood dementias are distinct from sources of intellectual disability in childhood that are non-progressive (e.g traumatic brain injury) [1] [2] or acquired (e.g nutritional deficiencies or encephalitis). [1]

Prognosis

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. [1]

The median life expectancy is around 9 years, whereas the average life expectancy is 16.3 years. [1]

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, [4] in addition to the loss of developmental skills acquired previously, such as: walking, talking, writing, reading, and playing. [4] [9] Eventually the body loses its ability to function, leading to an early death. [8] [4] [9]

Other symptoms and complications can occur depending on the subtype. [1]

Other symptoms:

Other complications:

Causes

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. [6] 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. [1] 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.

This can include:

Psychological impact

Childhood dementia can significantly affect both parents and the affected child by causing anxiety, feelings of helplessness, profound grief, and a sense of loss as the child conditions continues to progress over time. Children with childhood dementias suffer severe sleep disturbances, movement disorders (e.g. muscle spasms, tremors), deterioration of communication skills, loss of vision and hearing, mood disorders, psychosis (including hallucinations and delusions) and incontinence. [3] This situation can cause many emotional changes for parents and children. The psychological impacts that it has on children are confusion/frustration, loss of independence, social isolation, and fear, while parents often experience self-blame, stress, financial problems, and a loss of identity. For example, sleep disturbances and behavioral difficulties can exacerbate parent distress, anxiety, sleep quality and subsequent capacity to care for their child healthcare needs. [3]

Epidemiology

Current estimates place the incidence of childhood dementias at 1 in 1186 births. [1] This is higher than the incidence of some diseases with more widespread awareness, such as cystic fibrosis [3] (affecting around 1 in 3000-4000 births) [13] and spinal muscular atrophy (around 1 in 11000 births). [1] [14]

Meanwhile, the estimates for the prevalence are lower, at 1 in 3484 people in the general population [1] and 1 in 1715 among children. [1]

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]

See also

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<span class="mw-page-title-main">Dementia with Lewy bodies</span> Type of progressive dementia

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Leukoencephalopathy with neuroaxonal spheroids (LENAS), also known as adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD) is an extremely rare kind of leukoencephalopathy and is classified as a neurodegenerative disease. LENAS is a cause of severe and subacute dementia that results from damage to certain areas of the brain. This damage is to a type of brain tissue called white matter and axon damage due to swellings which are termed spheroids.

<span class="mw-page-title-main">Jansky–Bielschowsky disease</span> Medical condition

Jansky–Bielschowsky disease is an extremely rare autosomal recessive genetic disorder that is part of the neuronal ceroid lipofuscinosis (NCL) family of neurodegenerative disorders. It is caused by the accumulation of lipopigments in the body due to a deficiency in tripeptidyl peptidase I as a result of a mutation in the TPP1 gene. Symptoms appear between ages 2 and 4 and consist of typical neurodegenerative complications: loss of muscle function (ataxia), drug resistant seizures (epilepsy), apraxia, development of muscle twitches (myoclonus), and vision impairment. This late-infantile form of the disease progresses rapidly once symptoms are onset and ends in death between age 8 and teens. The prevalence of Jansky–Bielschowsky disease is unknown; however, NCL collectively affects an estimated 1 in 100,000 individuals worldwide. Jansky–Bielschowsky disease is related to late-infantile Batten disease and LINCL, and is under the umbrella of neuronal ceroid lipofuscinosis.

<span class="mw-page-title-main">Central nervous system disease</span> Disease of the brain or spinal cord

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<span class="mw-page-title-main">Alzheimer's disease</span> Progressive neurodegenerative disease

Alzheimer's disease (AD) is a neurodegenerative disease that usually starts slowly and progressively worsens, and is the cause of 60–70% of cases of dementia. The most common early symptom is difficulty in remembering recent events. As the disease advances, symptoms can include problems with language, disorientation, mood swings, loss of motivation, self-neglect, and behavioral issues. As a person's condition declines, they often withdraw from family and society. Gradually, bodily functions are lost, ultimately leading to death. Although the speed of progression can vary, the average life expectancy following diagnosis is three to twelve years.

<span class="mw-page-title-main">Parkinson's disease</span> Long-term neurodegenerative disease

Parkinson's disease (PD), or simply Parkinson's, is a neurodegenerative disease of mainly the central nervous system that affects both the motor and non-motor systems of the body. The symptoms usually emerge slowly, and, as the disease progresses, non-motor symptoms become more common. Usually symptoms include tremors, slowness of movement, rigidity, and difficulty with balance, collectively known as parkinsonism. Parkinson's disease dementia, falls and neuropsychiatric problems such as sleep abnormalities, psychosis, mood swings, or behavioral changes may also arise in advanced stages.

<span class="mw-page-title-main">Northern epilepsy syndrome</span> Medical condition

Northern epilepsy syndrome (NE), or progressive epilepsy with mental retardation (EPMR), is a subtype of neuronal ceroid lipofuscinosis and a rare disease that is regarded as a Finnish heritage disease. Unlike most Finnish heritage diseases, this syndrome has been reported only in Finland. The disease is characterized by seizures in early childhood that progressively get worse until after puberty. Once the onset of seizures occurs, mental degradation is seen. This continues into adulthood, even after seizure frequency has decreased. The cause of the disease is a missense mutation on chromosome 8. The creation of a new protein occurs, and the lipid content of the brain is altered because of it. The ratio of the mutation carriers is 1:135. There is nothing that has been found to stop the progression of the disease, but symptomatic approaches, such as the use of benzodiazepines, have helped control seizures.

<span class="mw-page-title-main">Early onset dementia</span> Cognitive disorder

Early onset dementia or young onset dementia refers to dementia with symptom onset prior to age 65. This condition is a significant public health concern, as the number of individuals with early onset dementia is increasing worldwide.

References

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  10. ↑ "What is Childhood Dementia? - Causes & Symptoms". 2022-09-07. Retrieved 2024-10-15.
  11. ↑ 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. PMID   11840979.
  12. ↑ "Childhood Dementia Support". Dementia Support Australia. Retrieved 2024-09-24.
  13. ↑ Sanders, Don B.; Fink, Aliza (August 2016). "Background and Epidemiology". Pediatric Clinics of North America. 63 (4): 567–584. doi:10.1016/j.pcl.2016.04.001. ISSN   0031-3955. PMC   4967225 . PMID   27469176.
  14. ↑ Mercuri, Eugenio; Finkel, Richard S.; Muntoni, Francesco; Wirth, Brunhilde; Montes, Jacqueline; Main, Marion; Mazzone, Elena S.; Vitale, Michael; Snyder, Brian; Quijano-Roy, Susana; Bertini, Enrico; Davis, Rebecca Hurst; Meyer, Oscar H.; Simonds, Anita K.; Schroth, Mary K. (February 2018). "Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care". Neuromuscular Disorders. 28 (2): 103–115. doi:10.1016/j.nmd.2017.11.005. hdl: 2434/702816 . ISSN   1873-2364. PMID   29290580.
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