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.
| Childhood dementia | |
|---|---|
| Other names | Pediatric dementia |
| Specialty | Neurology, Psychiatry, Pediatrics |
| Symptoms | Loss of previously acquired developmental skills, seizures, cognitive decline |
| Usual onset | Childhood or adolescence |
| Duration | Progressive |
| Causes | Genetic disorders, neurodegenerative diseases |
| Diagnostic method | Biochemical testing, genetic testing |
| Treatment | Most constituent disorders are untreatable and patients receive symptom management (medication, ) |
| Prognosis | Severely reduced life expectancy as a whole. Median life expectancy of 9 years |
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
editChildhood 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
editThe 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
editBy 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:
- Behavioral changes: Changes in one's personality,[10] aggression, and hyperactivity.[5]
- Motor decline: Loss of coordination[citation needed], balance[citation needed], and movement[4] abilities.
- Seizures: Frequent in many forms of childhood dementia.[1][4]
Other complications:
- Loss of vision or hearing.[4]
- Cardiovascular, respiratory, and/or digestive problems[4]
- Bone or joint problems.[4]
Causes
editThe 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
editDiagnosis 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
editThere 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:
- Medications: Anti-seizure medications, behaviour-modifying drugs, and muscle relaxants.[1]
- Therapies: Physiotherapy, occupational therapy, and speech therapy are used to maintain physical function for as long as possible.[1]
- Supportive care: This includes comprehensive care to address complications related to mobility, feeding, breathing, and communication.[5] Supportive care measures are customized for each patient and may include:
- Respiratory support, to manage breathing difficulties in advanced stages.
- Nutritional support, including the use of feeding tubes when swallowing becomes difficult.
- Palliative care to ensure comfort and quality of life as the disease progresses.[12]
Epidemiology
editCurrent 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
editThe 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
editReferences
edit- ^ a b c d e f g h i j k l m n o p q r Elvidge, Kristina L; Christodoulou, John; Farrar, Michelle A (2023-07-20). "Collective burden of childhood dementia: a scoping review". Brain. 146 (11): 4446–4464. doi:10.1093/brain/awad208. PMC 10545495. PMID 37365902. Retrieved 2024-09-24.
- ^ a b c d e 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.
- ^ a b Nevin, Suzanne M.; McGill, Brittany C.; Kelada, Lauren; Hilton, Gail; Maack, Megan; Elvidge, Kristina L.; Farrar, Michelle A.; Baynam, Gareth; Katz, Naomi T.; Donovan, Leigh; Grattan, Sarah; Signorelli, Christina; Bhattacharya, Kaustuv; Nunn, Kenneth; Wakefield, Claire E. (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.
- ^ a b c d e f g h i "Childhood Dementia". Dementia Australia. Retrieved 2024-09-24.
- ^ a b c Hemsley, Kim; Smith, Nicholas; Mubarokah, Siti (2024-04-26). "What is childhood dementia? And how could new research help?". The Conversation. Retrieved 2024-09-24.
- ^ a b 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.
- ^ a b c Atee, Mustafa; Whiteman, Ineka; Lloyd, Rebecca; Morris, Thomas (2024). "Behaviours and psychological symptoms of childhood dementia: two cases of psychosocial interventions". Palliative Care and Social Practice. 18: 26323524241273492. doi:10.1177/26323524241273492. ISSN 2632-3524. PMC 11378187. PMID 39247715.
- ^ a b "Childhood dementia". DZNE Abt fuer Presse-und Oeffentlichkeitsarbeit (in German). Retrieved 2024-10-01.
- ^ a b "What is childhood dementia?". Childhood Dementia Initiative. Retrieved 2024-10-01.
- ^ "What is Childhood Dementia? - Causes & Symptoms". 2022-09-07. Retrieved 2024-10-15.
- ^ 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. PMID 11840979.
- ^ "Childhood Dementia Support". Dementia Support Australia. Retrieved 2024-09-24.
- ^ 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.
- ^ 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.
- ^ "A Comprehensive Guide to Childhood Dementia: What You Need to Know". Discover Magazine. Retrieved 2024-09-24.