Autism spectrum disorder: definition, global epidemiology, prevalence in Poland and worldwide, and heredity
DOI:
https://doi.org/10.12775/JEHS.2025.78.57619Keywords
autism, autism spectrum disorder, ASD, history, epidemiology, prevalence, inheritance, heredity, geneticsAbstract
Introduction: The understanding of autism spectrum disorder (ASD) has evolved significantly. First mentioned in 1911, autism was described as "early childhood autism" by Leo Kanner in 1943, and a milder form, Asperger syndrome, was outlined by Hans Asperger in 1944. Expanding diagnostic criteria have led to increased recognition, with prevalence rising from 1 in 2,000 children in the 1980s to about 1 in 100 today. This growth is attributed to improved diagnostics, awareness, and healthcare access. While its exact causes remain unknown, ASD risk is influenced by genetic, environmental, prenatal, and perinatal factors, with genes like SHANK3, CHD8, and FMR1 playing key roles.
The aim of the study: This study aims to provide a comprehensive overview of autism spectrum disorder by examining its definition, historical context, epidemiology, and heredity. Special attention is given to global prevalence rates, with a focus on comparative trends in Poland, as well as genetic advancements shaping our understanding of this condition.
Material and method: In our article we used English databases such as PubMed and Google Scholar. We selected the articles according to keywords such as “ASD”, “autism”, “history of autism”, “epidemiology”, “inheritance”, “genetic”. The articles we used were published from 1943, mainly 2019-2024.
Conclusions: ASD is a complex condition influenced by genetic and environmental factors. Advances in diagnostics and awareness have led to increased prevalence rates globally. Genetic studies highlight key hereditary components, offering insights for early intervention. Ongoing research and culturally tailored strategies are essential to improve diagnosis, support, and quality of life for individuals struggling with this condition.
References
[1] Evans B. How autism became autism: The radical transformation of a central concept of child development in Britain. Hist Human Sci. 2013;26(3):3-31. doi:10.1177/0952695113484320.
[2] Kanner, L. (1943). Autistic disturbances of affective contact. Nervous Child, 2, 217–250.
[3] DSM-5 Update Supplement to Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, Text Revision September 2024. Accessed: 9 December 2024 https://www.psychiatry.org/getmedia/2ed086b0-ec88-42ec-aa0e-f442e4af74e6/APA-DSM5TR-Update-September-2024.pdf
[4] Rynkiewicz A, Kulik M Standardized, interactive tests to diagnose autism spectrum disorder (ASD) and new diagnostic criteria in DSM-5, Psychiatria 2013; 10, 2: 41–48.
[5] Fombonne E. Epidemiology of pervasive developmental disorders. Pediatr Res. 2009;65(6):591-598. doi:10.1203/PDR.0b013e31819e7203.
[6] Salari N, Rasoulpoor S, Rasoulpoor S, et al. The global prevalence of autism spectrum disorder: a comprehensive systematic review and meta-analysis. Ital J Pediatr. 2022;48(1):112. Published 2022 Jul 8. doi:10.1186/s13052-022-01310-w.
[7] Szukiel B, Krzesicka NK, Słoma M, Batruch E, Sobaniec P. Analiza badań epidemiologicznych dotyczących zaburzeń ze spektrum autyzmu. W: Krajewska-Kułak E, Łukaszuk C, Lewko J, Kułak W, red. Holistyczny wymiar współczesnej medycyny. T. 4 : praca zbiorowa. ; 2018:358–366.
[8] Supreme Audit Office (Pl. Najwyższa Izba Kontroli) Wsparcie osób z autyzmem i zespołem aspergera w przygotowaniu do samodzielnego funkcjonowania. Accessed: 16 December 2024 https://www.nik.gov.pl/plik/id,22196,vp,24863.pdf
[9] Zeidan J, Fombonne E, Scorah J, et al. Global prevalence of autism: A systematic review update. Autism Res. 2022;15(5):778-790. doi:10.1002/aur.2696.
[10] Alrehaili RA, ElKady RM, Alrehaili JA, Alreefi RM. Exploring Early Childhood Autism Spectrum Disorders: A Comprehensive Review of Diagnostic Approaches in Young Children. Cureus. 2023;15(12):e50111. Published 2023 Dec 7. doi:10.7759/cureus.50111.
[11] Seif Eldin A, Habib D, Noufal A, et al. Use of M-CHAT for a multinational screening of young children with autism in the Arab countries. Int Rev Psychiatry. 2008;20(3):281-289. doi:10.1080/09540260801990324.
[12] Baron-Cohen, Simon. "Autism–‘autos’: literally, a total focus on the self?." The lost self: Pathologies of the brain and identity (2005): 166-180.
[13] Hosseini SA, Molla M. Asperger Syndrome. In: StatPearls. Treasure Island (FL): StatPearls Publishing; February 12, 2024.
[14] Lord C, Elsabbagh M, Baird G, Veenstra-Vanderweele J. Autism spectrum disorder. Lancet. 2018;392(10146):508-520. doi:10.1016/S0140-6736(18)31129-2.
[15] Dawson G, Rieder AD, Johnson MH. Prediction of autism in infants: progress and challenges. Lancet Neurol. 2023;22(3):244-254. doi:10.1016/S1474-4422(22)00407-0.
[16] ICD-11 for Mortality and Morbidity Statistics - Autism spectrum disorder. Accessed: 18 December 2024 https://icd.who.int/browse/2024-01/mms/en#437815624
[17] Idring S, Lundberg M, Sturm H, et al. Changes in prevalence of autism spectrum disorders in 2001-2011: findings from the Stockholm youth cohort. J Autism Dev Disord. 2015;45(6):1766-1773. doi:10.1007/s10803-014-2336-y.
[18] Skonieczna-Żydecka K, Gorzkowska I, Pierzak-Sominka J, Adler G. The Prevalence of Autism Spectrum Disorders in West Pomeranian and Pomeranian Regions of Poland. J Appl Res Intellect Disabil. 2017;30(2):283-289. doi:10.1111/jar.12238.
[19] Bachmann CJ, Gerste B, Hoffmann F. Diagnoses of autism spectrum disorders in Germany: Time trends in administrative prevalence and diagnostic stability. Autism. 2018;22(3):283-290. doi:10.1177/1362361316673977.
[20] Surén P, Bakken IJ, Aase H, et al. Autism spectrum disorder, ADHD, epilepsy, and cerebral palsy in Norwegian children. Pediatrics. 2012;130(1):e152-e158. doi:10.1542/peds.2011-3217.
[21] Málaga I, Blanco-Lago R, Hedrera-Fernández A, Álvarez-Alvarez N, Oreña-Ansonera VA, Baeza-Velasco M. Prevalencia de los trastornos del espectro autista en niños en Estados Unidos, Europa y España: coincidencias y discrepancias [Prevalence of autism spectrum disorders in USA, Europe and Spain: coincidences and discrepancies]. Medicina (B Aires). 2019;79(Suppl 1):4-9.
[22] Thomaidis L, Mavroeidi N, Richardson C, et al. Autism Spectrum Disorders in Greece: Nationwide Prevalence in 10-11 Year-Old Children and Regional Disparities. J Clin Med. 2020;9(7):2163. Published 2020 Jul 8. doi:10.3390/jcm9072163.
[23] Fuentes J, Basurko A, Isasa I, et al. The ASDEU autism prevalence study in northern Spain. Eur Child Adolesc Psychiatry. 2021;30(4):579-589. doi:10.1007/s00787-020-01539-y
[24] Ostrowski J, Religioni U, Gellert B, Sytnik-Czetwertyński J, Pinkas J. Autism Spectrum Disorders: Etiology, Epidemiology, and Challenges for Public Health. Med Sci Monit. 2024;30:e944161. Published 2024 Jun 4. doi:10.12659/MSM.944161.
[25] Chiarotti F, Venerosi A. Epidemiology of Autism Spectrum Disorders: A Review of Worldwide Prevalence Estimates Since 2014. Brain Sci. 2020;10(5):274. Published 2020 May 1. doi:10.3390/brainsci10050274.
[26] Kielinen M, Linna SL, Moilanen I. Autism in Northern Finland. Eur Child Adolesc Psychiatry. 2000;9(3):162-167. doi:10.1007/s007870070039.
[27] Prevalence of the Autism Spectrum Disorders (ASDs) Update from the Autism and Developmental Disabilities Monitoring (ADDM) Network. Accessed: 27 December 2024
[28] Autism and Developmental Disabilities Monitoring Network Surveillance Year 2000 Principal Investigators; Centers for Disease Control and Prevention. Prevalence of autism spectrum disorders--autism and developmental disabilities monitoring network, six sites, United States, 2000. MMWR Surveill Summ. 2007;56(1):1-11.
[29] Autism and Developmental Disabilities Monitoring Network Surveillance Year 2002 Principal Investigators; Centers for Disease Control and Prevention. Prevalence of autism spectrum disorders--autism and developmental disabilities monitoring network, 14 sites, United States, 2002. MMWR Surveill Summ. 2007;56(1):12-28.
[30] Autism and Developmental Disabilities Monitoring Network Surveillance Year 2008 Principal Investigators; Centers for Disease Control and Prevention. Prevalence of autism spectrum disorders--Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008. MMWR Surveill Summ. 2012;61(3):1-19.
[31] Maenner MJ, Shaw KA, Bakian AV, et al. Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2018. Morbidity and Mortality Weekly report. Surveillance Summaries (Washington, D.C. : 2002). 2021 Dec;70(11):1-16. DOI: 10.15585/mmwr.ss7011a1.
[32] Maenner MJ, Warren Z, Williams AR, et al. Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2020. MMWR Surveill Summ 2023;72(No. SS-2):1–14. DOI: http://dx.doi.org/10.15585/mmwr.ss7202a1.
[33] Talantseva OI, Romanova RS, Shurdova EM, et al. The global prevalence of autism spectrum disorder: A three-level meta-analysis. Front Psychiatry. 2023;14:1071181. Published 2023 Feb 9. doi:10.3389/fpsyt.2023.1071181.
[34] Couper J. Prevalence of childhood disability in rural KwaZulu-Natal. S Afr Med J. 2002;92(7):549-552.
[35] Adams SN. The Unmasking of Autism in South Africa and Nigeria. Neuropsychiatr Dis Treat. 2024;20:947-955. Published 2024 May 8. doi:10.2147/NDT.S461650.
[36] Kakooza-Mwesige A, Ssebyala K, Karamagi C, Kiguli S, Smith K, Anderson MC, Croen LA, Trevathan E, Hansen R, Smith D, Grether JK. Adaptation of the “ten questions” to screen for autism and other neurodevelopmental disorders in Uganda. Autism. 2014; 18(4): 447–57.
[37] Zeglam AM, Maound AJ. Prevalence of autistic spectrum disorders in Tripoli, Libya: the need for more research and planned services. East Mediterr Health J. 2012;18(2):184-188. doi:10.26719/2012.18.2.184.
[38] Hewitt A, Hall-Lande J, Hamre K, et al. Autism Spectrum Disorder (ASD) Prevalence in Somali and Non-Somali Children. J Autism Dev Disord. 2016;46(8):2599-2608. doi:10.1007/s10803-016-2793-6.
[39] Lagunju IA, Bella-Awusah TT, Omigbodun OO. Autistic disorder in Nigeria: profile and challenges to management. Epilepsy Behav. 2014;39:126-129. doi:10.1016/j.yebeh.2014.08.020.
[40] Onyishi, C.N., & Sefotho, M.M. (2019). Family Roles in Developing Resilience Skills in School Children with Autism Spectrum Disorders. Global Journal of Health Science, 11, 81.
[41] Choulagai B, Khatri G, Onta S, Tiwari S Knowledge and Management Practices of Paediatricians about Autism Spectrum Disorder in Kathmandu, Nepal, 2011 May.
[42] Aderinto N, Olatunji D, Idowu O. Autism in Africa: prevalence, diagnosis, treatment and the impact of social and cultural factors on families and caregivers: a review. Ann Med Surg (Lond). 2023;85(9):4410-4416. Published 2023 Jul 24. doi:10.1097/MS9.0000000000001107.
[43] Kim YS, Leventhal BL, Koh YJ, et al. Prevalence of autism spectrum disorders in a total population sample [published correction appears in Am J Psychiatry. 2013 Jun 1;170(6):689]. Am J Psychiatry. 2011;168(9):904-912. doi:10.1176/appi.ajp.2011.10101532.
[44] Qiu S, Lu Y, Li Y, et al. Prevalence of autism spectrum disorder in Asia: A systematic review and meta-analysis. Psychiatry Res. 2020;284:112679. doi:10.1016/j.psychres.2019.112679.
[45] Randall M, Sciberras E, Brignell A, et al. Autism spectrum disorder: Presentation and prevalence in a nationally representative Australian sample. Aust N Z J Psychiatry. 2016;50(3):243-253. doi:10.1177/0004867415595287.
[46] May T, Brignell A, Williams K. Autism Spectrum Disorder Prevalence in Children Aged 12-13 Years From the Longitudinal Study of Australian Children. Autism Res. 2020;13(5):821-827. doi:10.1002/aur.2286.
[47] Bowden N, Thabrew H, Kokaua J, et al. Autism spectrum disorder/Takiwātanga: An Integrated Data Infrastructure-based approach to autism spectrum disorder research in New Zealand. Autism. 2020;24(8):2213-2227. doi:10.1177/1362361320939329.
[48] Wang L, Wang B, Wu C, Wang J, Sun M. Autism Spectrum Disorder: Neurodevelopmental Risk Factors, Biological Mechanism, and Precision Therapy. Int J Mol Sci. 2023;24(3):1819. Published 2023 Jan 17. doi:10.3390/ijms24031819.
[49] Xu LM, Li JR, Huang Y, Zhao M, Tang X, Wei L. AutismKB: an evidence-based knowledgebase of autism genetics. Nucleic Acids Res. 2012;40(Database issue):D1016-D1022. doi:10.1093/nar/gkr1145.
[50] Willsey AJ, State MW. Autism spectrum disorders: from genes to neurobiology. Curr Opin Neurobiol. 2015;30:92-99. doi:10.1016/j.conb.2014.10.015.
[51] Verkerk AJ, Pieretti M, Sutcliffe JS, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell. 1991;65(5):905-914. doi:10.1016/0092-8674(91)90397-h.
[52] Li J, Yen C, Liaw D, et al. PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. Science. 1997;275(5308):1943-1947. doi:10.1126/science.275.5308.1943.
[53] van Slegtenhorst M, de Hoogt R, Hermans C, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science. 1997;277(5327):805-808. doi:10.1126/science.277.5327.805.
[54] European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell. 1993;75(7):1305-1315. doi:10.1016/0092-8674(93)90618-z.
[55] Basson MA. Neurodevelopmental functions of CHD8: new insights and questions. Biochem Soc Trans. 2024;52(1):15-27. doi:10.1042/BST20220926.
[56] Neale BM, Kou Y, Liu L, et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012;485(7397):242-245. Published 2012 Apr 4. doi:10.1038/nature11011.
[57] Zhou X, Feliciano P, Shu C, et al. Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes. Nat Genet. 2022;54(9):1305-1319. doi:10.1038/s41588-022-01148-2.
[58] Neale BM, Kou Y, Liu L, et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012;485(7397):242-245. Published 2012 Apr 4. doi:10.1038/nature11011.
[59] Vorstman JA, Staal WG, van Daalen E, van Engeland H, Hochstenbach PF, Franke L. Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol Psychiatry. 2006;11(1):1-28. doi:10.1038/sj.mp.4001781.
[60] Kumar RA, KaraMohamed S, Sudi J, et al. Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet. 2008;17(4):628-638. doi:10.1093/hmg/ddm376.
[61] Buxbaum JD, Silverman JM, Smith CJ, et al. Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity [published correction appears in Am J Hum Genet 2001 Aug;69(2):470]. Am J Hum Genet. 2001;68(6):1514-1520. doi:10.1086/320588.
[62] Weiss LA, Arking DE; Gene Discovery Project of Johns Hopkins & the Autism Consortium, Daly MJ, Chakravarti A. A genome-wide linkage and association scan reveals novel loci for autism. Nature. 2009;461(7265):802-808. doi:10.1038/nature08490.
[63] Veenstra-VanderWeele J, Cook EH Jr. Molecular genetics of autism spectrum disorder. Mol Psychiatry. 2004;9(9):819-832. doi:10.1038/sj.mp.4001505.
[64] Kainer D, Templeton AR, Prates ET, et al. Structural variants identified using non-Mendelian inheritance patterns advance the mechanistic understanding of autism spectrum disorder. HGG Adv. 2022;4(1):100150. Published 2022 Oct 6. doi:10.1016/j.xhgg.2022.100150.
[65] Tick B, Bolton P, Happé F, Rutter M, Rijsdijk F. Heritability of autism spectrum disorders: a meta-analysis of twin studies. J Child Psychol Psychiatry. 2016;57(5):585-595. doi:10.1111/jcpp.12499.
[66] Bai D, Yip BHK, Windham GC, et al. Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort. JAMA Psychiatry. 2019;76(10):1035-1043. doi:10.1001/jamapsychiatry.2019.1411.
[67] Bailey A, Le Couteur A, Gottesman I, et al. Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med. 1995;25(1):63-77. doi:10.1017/s0033291700028099.
[68] Iossifov I, O'Roak BJ, Sanders SJ, et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 2014;515(7526):216-221. doi:10.1038/nature13908.
[69] Yoon S, Munoz A, Yamrom B, et al. Rates of contributory de novo mutation in high and low-risk autism families. Commun Biol. 2021;4(1):1026. Published 2021 Sep 1. doi:10.1038/s42003-021-02533-z.
[70] Ghasemi MR, Sadeghi H, Hashemi-Gorji F, et al. Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism. BMC Med Genomics. 2024;17(1):196. Published 2024 Aug 5. doi:10.1186/s12920-024-01969-6.
[71] Constantino JN, Todd RD. Autistic traits in the general population: a twin study. Arch Gen Psychiatry. 2003;60(5):524-530. doi:10.1001/archpsyc.60.5.524.
[72] Wigdor EM, Weiner DJ, Grove J, et al. The female protective effect against autism spectrum disorder. Cell Genom. 2022;2(6):100134. Published 2022 Jun 8. doi:10.1016/j.xgen.2022.100134.
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