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 such as 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; [7] [1] [8] [2] loss of previously acquired developmental skills after a period of development; [7] [1] [8] [2] and behaviours and psychological symptoms of dementia (BPSD). [8]

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.

The impact on life expectancy depends on the individual condition [9] , but is usually severe without treatment. [1] [3] It's estimated only 25–29% of people affected survive to adulthood, and only 10% to the age of 50. [1] The median life expectancy is around 9 years, and the average life expectancy is 16.3 years. [1]

The causes of death are attributed to respiratory complications in the late stage of the disease (e.g. pneumonia), neurological complications (e.g. drug resistant epilepsy), and cardiac events. [10] [11]

Signs and symptoms

By their usual definitions, childhood dementias always cause global neurocognitive decline. In some childhood dementia conditions the child's early development is indistinguishable from their healthy peers, then slows or plateaus before declining. In other childhood dementia disorders, early development may be slower than typical before declining. [12]

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] [13] Eventually the body loses its ability to function, leading to an early death. [12] [4] [13]

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 diseases. [1] More than 145 monogenic diseases have been identified that cause dementia with onset in childhood. Examples include lysosomal disorders such as Sanfilippo syndrome, Niemann-Pick disease type C and Neuronal Ceroid Lipofuscinoses (NCLs or Batten Disease), some mitochondrial diseases such as Leigh syndrome and peroxisomal disorders such as X-linked adrenoleukodystrophy. Two-thirds of the cases can be attributed to inborn errors of metabolism. [1] [15]

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.

Challenges in diagnosis

Childhood dementia is very often diagnosed late, misdiagnosed, or not diagnosed at all. [9] A correct diagnosis happens, on average, 2 years or more after symptoms become apparent. Additionally, children affected by childhood dementia are often misdiagnosed with:

These issues in diagnosis are attributed to the:

Management

Treatment of childhood dementia 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) [21] and spinal muscular atrophy (around 1 in 11000 births). [1] [22]

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. [23]

Society and culture

Awareness

Despite its significance, childhood dementia has a very limited amount of awareness in popular culture, the medical community [9] [18] , and the media. [1] [5] Most health professionals have limited understanding and experience with individual childhood dementia conditions. [2]

See also

Related Research Articles

<span class="mw-page-title-main">Dementia</span> Long-term brain disorders causing impaired memory, thinking and behavior

Dementia is a syndrome associated with many neurodegenerative diseases, characterized by a general decline in cognitive abilities that affects a person's ability to perform everyday activities. This typically involves problems with memory, thinking, behavior, and motor control. Aside from memory impairment and a disruption in thought patterns, the most common symptoms of dementia include emotional problems, difficulties with language, and decreased motivation. The symptoms may be described as occurring in a continuum over several stages. Dementia ultimately has a significant effect on the individual, their caregivers, and their social relationships in general. A diagnosis of dementia requires the observation of a change from a person's usual mental functioning and a greater cognitive decline than might be caused by the normal aging process.

<span class="mw-page-title-main">Parkinsonism</span> Syndrome characterized by tremor, slowed movements, rigidity, and imbalance

Parkinsonism is a clinical syndrome characterized by tremor, bradykinesia, rigidity, and postural instability. Both hypokinetic as well as hyperkinetic features are displayed by Parkinsonism. These are the four motor symptoms found in Parkinson's disease (PD) – after which it is named – dementia with Lewy bodies (DLB), Parkinson's disease dementia (PDD), and many other conditions. This set of symptoms occurs in a wide range of conditions and may have many causes, including neurodegenerative conditions, drugs, toxins, metabolic diseases, and neurological conditions other than PD.

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

Dementia with Lewy bodies (DLB) is a type of dementia characterized by changes in sleep, behavior, cognition, movement, and regulation of automatic bodily functions. Memory loss is not always an early symptom. The disease worsens over time and is usually diagnosed when cognitive impairment interferes with normal daily functioning. Together with Parkinson's disease dementia, DLB is one of the two Lewy body dementias. It is a common form of dementia, but the prevalence is not known accurately and many diagnoses are missed. The disease was first described on autopsy by Kenji Kosaka in 1976, and he named the condition several years later.

<span class="mw-page-title-main">Rapid eye movement sleep behavior disorder</span> Medical condition

Rapid eye movement sleep behavior disorder or REM sleep behavior disorder (RBD) is a sleep disorder in which people act out their dreams. It involves abnormal behavior during the sleep phase with rapid eye movement (REM) sleep. The major feature of RBD is loss of muscle atonia during otherwise intact REM sleep. The loss of motor inhibition leads to sleep behaviors ranging from simple limb twitches to more complex integrated movements that can be violent or result in injury to either the individual or their bedmates.

<span class="mw-page-title-main">Frontotemporal dementia</span> Types of dementia involving the frontal or temporal lobes

Frontotemporal dementia (FTD), also called frontotemporal degeneration disease or frontotemporal neurocognitive disorder, encompasses several types of dementia involving the progressive degeneration of the brain's frontal and temporal lobes. Men and women appear to be equally affected. FTD generally presents as a behavioral or language disorder with gradual onset. Signs and symptoms tend to appear in late adulthood, typically between the ages of 45 and 65, although it can affect people younger or older than this. Currently, no cure or approved symptomatic treatment for FTD exists, although some off-label drugs and behavioral methods are prescribed.

<span class="mw-page-title-main">Sanfilippo syndrome</span> Rare metabolism disorder

Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare lifelong genetic disease that mainly affects the brain and spinal cord. It is caused by a problem with how the body breaks down certain large sugar molecules called glycosaminoglycans (also known as GAGs or mucopolysaccharides). In children with this condition, these sugar molecules build up in the body and eventually lead to damage of the central nervous system and other organ systems.

Cognitive disorders (CDs), also known as neurocognitive disorders (NCDs), are a category of mental health disorders that primarily affect cognitive abilities including learning, memory, perception, and problem-solving. Neurocognitive disorders include delirium, mild neurocognitive disorders, and major neurocognitive disorder. They are defined by deficits in cognitive ability that are acquired, typically represent decline, and may have an underlying brain pathology. The DSM-5 defines six key domains of cognitive function: executive function, learning and memory, perceptual-motor function, language, complex attention, and social cognition.

Batten disease is a fatal disease of the nervous system that typically begins in childhood. Onset of symptoms is usually between 5 and 10 years of age. Often, it is autosomal recessive. It is the common name for a group of disorders called the neuronal ceroid lipofuscinoses (NCLs).

Psychoorganic syndrome (POS), also known as organic psychosyndrome, is a progressive disease comparable to presenile dementia. It consists of psychopathological complex of symptoms that are caused by organic brain disorders that involve a reduction in memory and intellect. Psychoorganic syndrome is often accompanied by asthenia.

<span class="mw-page-title-main">Neurodegenerative disease</span> Central nervous system disease

A neurodegenerative disease is caused by the progressive loss of neurons, in the process known as neurodegeneration. Neuronal damage may also ultimately result in their death. Neurodegenerative diseases include amyotrophic lateral sclerosis, multiple sclerosis, Parkinson's disease, Alzheimer's disease, Huntington's disease, multiple system atrophy, tauopathies, and prion diseases. Neurodegeneration can be found in the brain at many different levels of neuronal circuitry, ranging from molecular to systemic. Because there is no known way to reverse the progressive degeneration of neurons, these diseases are considered to be incurable; however research has shown that the two major contributing factors to neurodegeneration are oxidative stress and inflammation. Biomedical research has revealed many similarities between these diseases at the subcellular level, including atypical protein assemblies and induced cell death. These similarities suggest that therapeutic advances against one neurodegenerative disease might ameliorate other diseases as well.

<span class="mw-page-title-main">Myotonic dystrophy</span> Disorder in which muscles fail to relax

Myotonic dystrophy (DM) is a type of muscular dystrophy, a group of genetic disorders that cause progressive muscle loss and weakness. In DM, muscles are often unable to relax after contraction. Other manifestations may include cataracts, intellectual disability and heart conduction problems. In men, there may be early balding and infertility. While myotonic dystrophy can occur at any age, onset is typically in the 20s and 30s.

Cognitive impairment is an inclusive term to describe any characteristic that acts as a barrier to the cognition process or different areas of cognition. Cognition, also known as cognitive function, refers to the mental processes of how a person gains knowledge, uses existing knowledge, and understands things that are happening around them using their thoughts and senses. Cognitive impairment can be in different domains or aspects of a person's cognitive function including memory, attention span, planning, reasoning, decision-making, language, executive functioning, and visuospatial functioning. The term cognitive impairment covers many different diseases and conditions and may also be symptom or manifestation of a different underlying condition. Examples include impairments in overall intelligence, specific and restricted impairments in cognitive abilities, neuropsychological impairments, or it may describe drug-induced impairment in cognition and memory. Cognitive impairments may be short-term, progressive, or permanent.

Mild cognitive impairment (MCI) is a diagnosis that reflects a transitional state between normal aging and dementia, especially dementia due to Alzheimer's disease. MCI may include both memory and non-memory neurocognitive impairments. About 50 percent of people diagnosed with MCI have Alzheimer's disease and go on to develop Alzheimer's dementia within five years. MCI can also serve as an early indicator for other types of dementia, although MCI may also remain stable or remit. Many definitions of MCI exist. A common feature of many of these is that MCI involves cognitive impairments that are measurable but that are not significant enough to interfere with instrumental activities of daily living.

Progressive Myoclonic Epilepsies (PME) are a rare group of inherited neurodegenerative diseases characterized by myoclonus, resistance to treatment, and neurological deterioration. The cause of PME depends largely on the type of PME. Most PMEs are caused by autosomal dominant or recessive and mitochondrial mutations. The location of the mutation also affects the inheritance and treatment of PME. Diagnosing PME is difficult due to their genetic heterogeneity and the lack of a genetic mutation identified in some patients. The prognosis depends largely on the worsening symptoms and failure to respond to treatment. There is no current cure for PME and treatment focuses on managing myoclonus and seizures through antiepileptic medication (AED).

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">Central nervous system disease</span> Disease of the brain or spinal cord

Central nervous system diseases or central nervous system disorders are a group of neurological disorders that affect the structure or function of the brain or spinal cord, which collectively form the central nervous system (CNS). These disorders may be caused by such things as infection, injury, blood clots, age related degeneration, cancer, autoimmune disfunction, and birth defects. The symptoms vary widely, as do the treatments.

<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. It 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">Neurological disorder</span> Any disorder of the nervous system

Neurological disorders represent a complex array of medical conditions that fundamentally disrupt the functioning of the nervous system. These disorders affect the brain, spinal cord, and nerve networks, presenting unique diagnosis, treatment, and patient care challenges. At their core, they represent disruptions to the intricate communication systems within the nervous system, stemming from genetic predispositions, environmental factors, infections, structural abnormalities, or degenerative processes.

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

Parkinson's disease (PD), or simply Parkinson's, is a neurodegenerative disease primarily of the central nervous system, affecting both motor and non-motor systems. Symptoms typically develop gradually, with non-motor issues becoming more prevalent as the disease progresses. Common motor symptoms include tremors, bradykinesia, rigidity, and balance difficulties, collectively termed parkinsonism. In later stages, Parkinson's disease dementia, falls, and neuropsychiatric problems such as sleep abnormalities, psychosis, mood swings, or behavioral changes may arise.

<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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  2. 1 2 3 4 5 6 Djafar, Jason V.; Johnson, Alexandra M.; Elvidge, Kristina L.; Farrar, Michelle A. (2023-02-01). "Childhood Dementia: A Collective Clinical Approach to Advance Therapeutic Development and Care". Pediatric Neurology. 139: 76–85. doi:10.1016/j.pediatrneurol.2022.11.015. ISSN   0887-8994. PMID   36571866.
  3. 1 2 3 4 5 6 Nevin, Suzanne M.; McGill, Brittany C.; Kelada, Lauren; et al. (2023-09-07). "The psychosocial impact of childhood dementia on children and their parents: a systematic review". Orphanet Journal of Rare Diseases. 18 (1): 277. doi: 10.1186/s13023-023-02859-3 . ISSN   1750-1172. PMC   10486052 . PMID   37679855.
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  6. 1 2 3 Schulz, Angela; Kohlschütter, Alfried (2013). "NCL Disorders: Frequent Causes of Childhood Dementia". Iranian Journal of Child Neurology. 7 (1): 1–8. PMC   3943077 . PMID   24665282.
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  9. 1 2 3 4 5 6 7 "Childhood dementia initiative - supporting document 2 - 2021-22 Pre-Budget Submissions" (PDF).
  10. ↑ Nevin, Suzanne M.; McGill, Brittany C.; Kelada, Lauren; et al. (2023-09-07). "The psychosocial impact of childhood dementia on children and their parents: a systematic review". Orphanet Journal of Rare Diseases. 18 (1): 277. doi: 10.1186/s13023-023-02859-3 . ISSN   1750-1172. PMC   10486052 . PMID   37679855.
  11. ↑ "Childhood dementia initiative - supporting document 2 - 2021-22 Pre-Budget Submissions" (PDF).
  12. 1 2 "Childhood dementia". DZNE Abt fuer Presse-und Oeffentlichkeitsarbeit (in German). Retrieved 2024-10-01.
  13. 1 2 "What is childhood dementia?". Childhood Dementia Initiative. Retrieved 2024-10-01.
  14. ↑ "What is Childhood Dementia? - Causes & Symptoms". 2022-09-07. Retrieved 2024-10-15.
  15. ↑ Warmerdam, HAG; Termeulen-Ferreira, EA; Tseng, LA; Lee, JY; van Eeghen, AM; Ferreira, CR; van Karnebeek, CDM (2019). "A Scoping Review of Inborn Errors of Metabolism Causing Progressive Intellectual and Neurologic Deterioration (PIND)". Frontiers in Neurology. 10: 1369. doi: 10.3389/fneur.2019.01369 . PMC   7040240 . PMID   32132962.
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  20. ↑ "Childhood Dementia Support". Dementia Support Australia. Retrieved 2024-09-24.
  21. ↑ 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.
  22. ↑ 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.
  23. ↑ "A Comprehensive Guide to Childhood Dementia: What You Need to Know". Discover Magazine. Retrieved 2024-09-24.
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