Polish Journal of Paediatrics
en POLSKI
eISSN: 2300-8660
ISSN: 0031-3939
Pediatria Polska - Polish Journal of Paediatrics
Current issue Archive Manuscripts accepted About the journal Editorial board Abstracting and indexing Contact Instructions for authors Ethical standards and procedures
Editorial System
Submit your Manuscript
SCImago Journal & Country Rank
Search
Editorial Policies
Sarajevo Declaration on Integrity and Visibility of Scholarly Publications

1/2026
vol. 101
 
Share:
Send email
Share:
Review paper

A brief guide to the genetics of autism spectrum disorders

Joanna Karwowska
1
,
Natalia Wawrusiewicz-Kurylonek
1
,
Alireza Tafazoli
2
,
Renata Posmyk
1, 3

  1. Department of Clinical Genetics, Medical University of Bialystok, Bialystok, Poland
  2. Department of Pharmacology and Toxicology, Faculty of Medicine, University of Toronto, Toronto, United States
  3. Podlaskie Center of Clinical Genetics “Genetics”, Bialystok, Poland
Pediatr Pol 2026; 101 (1): 57-67
DOI: https://doi.org/10.5114/polp.2026.160532
Online publish date: 2026/03/27
Article file
- A brief guide - Karwowska.pdf  [0.43 MB]
Get citation
 
PlumX metrics:
 
1. Lord C, Brugha TS, Charman T, Cusack J, Dumas G, Frazier T, et al. Autism spectrum disorder. Nat Rev Dis Prim 2020; 6: 5.
2. Grove J, Ripke S, Als TD, Mattheisen M, Walters RK, Won H, et al. Identification of common genetic risk variants for autism spectrum disorder. Nat Genet 2019; 51: 431-444.
3. Elsabbagh M, Divan G, Koh YJ, Kim YS, Kauchali S, Marcín C, et al. Global prevalence of autism and other pervasive developmental disorders. Autism Res 2012; 5: 160-179.
4. Baio J. Prevalence of autism spectrum disorder among children aged 8 years – autism and developmental disabilities monitoring network, 11 sites, United States, 2010. MMWR Surveill Summ 2014; 63: 1-21.
5. Chiarotti F, Venerosi A. Epidemiology of autism spectrum disorders: a review of worldwide prevalence estimates since 2014. Brain Sci 2020; 10: 274.
6. Imbriani G, Panico A, Grassi T, Idolo A, Serio F, Bagordo F, de Filippis G, et al. Early-life exposure to environmental air pollution and autism spectrum disorder: a review of available evidence. Int J Environ Res Public Health 2021; 18: 1-24.
7. Getahun D, Fassett MJ, Peltier MR, Wing DA, Xiang AH, Chiu V, et al. Association of perinatal risk factors with autism spectrum disorder. Am J Perinatol 2017; 34: 295-304.
8. Oerlemans M, Burmanje MJ, Franke B, Buitelaar JK, Hartman CA, Rommelse NN, et al. Identifying unique versus shared pre- and perinatal risk factors for ASD and ADHD using a simplex-multiplex stratification. J Abnorm Child Psychol 2016; 44: 923‑935.
9. Visser JC, Rommelse N, Vink L, Schrieken M, Oosterling IJ, van der Gaag RJ, et al. Narrowly versus broadly defined autism spectrum disorders: differences in pre- and perinatal risk factors. J Autism Dev Disord 2013; 43: 1505-1516.
10. Froehlich-Santino W, Londono Tobon A, Cleveland S, Torres A, Phillips J, Cohen B, et al. Prenatal and perinatal risk factors in a twin study of autism spectrum disorders. J Psychiatr Res 2014; 54: 100-108.
11. Parellada M, Penzol MJ, Pina L, Moreno C, González-Vioque E, Zalsman G, et al. The neurobiology of autism spectrum disorders. Eur Psychiatry 2014; 29: 11-19.
12. Havdahl A, Niarchou M, Starnawska A, Uddin M, van der Merwe C, Warrier V. Genetic contributions to autism spectrum disorder. Psychol Med 2021; 51: 2260-2273.
13. Miles JH. Autism spectrum disorders – a genetics review. Genet Med 2011; 13: 278-294.
14. Benvenuto A, Moavero R, Alessandrelli R, Manzi B, Curatolo P. Syndromic autism: causes and pathogenetic pathways. World J Pediatr 2009; 5: 169-176.
15. Śmigiel R, Szczałuba K. Genetycznie uwarunkowane zaburzenia rozwoju u dzieci. Wydawnictwo PZWL, Warszawa 2021.
16. Cianci P, Selicorni A. Gestalt diagnosis for children with suspected genetic syndromes. Ital J Pediatr 2015; 41: A16.
17. Campbell DJ, Chang J, Chawarska K. Early generalized overgrowth in autism spectrum disorder: prevalence rates, gender effects, and clinical outcomes. J Am Acad Child Adolesc Psychiatry 2014; 53: 1063-1073.e5.
18. Niu M, Han Y, Dy ABC, Du J, Jin H, Qin J, et al. Autism symptoms in fragile X syndrome. J Child Neurol 2017; 32: 903-909.
19. Ellaway C, Christodoulou J. Rett syndrome: clinical characteristics and recent genetic advances. Disabil Rehabil 2001; 23: 98-106.
20. Yehia L, Keel E, Eng C. The clinical spectrum of PTEN mutations. Annu Rev Med 2020; 71: 103-116.
21. Henske EP, Józwiak S, Kingswood JC, Sampson JR, Thiele EA. Tuberous sclerosis complex. Nat Rev Dis Prim 2016; 2: 16035.
22. Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ. Neurofibromatosis type 1. Nat Rev Dis Prim 2017; 3: 17004.
23. Baujat G, Cormier-Daire V. Sotos syndrome. Orphanet J Rare Dis 2007; 2: 36.
24. Giani L, Scaini S, Nobile M, Michelini G, Ajmone PF, Vizziello PG, et al. Behavioral markers of social anxiety in Cornelia de Lange syndrome: a brief systematic review. J Affect Disord 2022; 299: 636-643.
25. Majdoub F, Souissi A, Trabelsi M, Ziadi A, Belguith N, Maazoul F, et al. Neuropsychiatric manifestations in Cornelia de Lange syndrome. Semin Pediatr Neurol 2020; 35: 100804.
26. Allanson JE. Noonan syndrome. Am J Med Genet C Semin Med Genet 2007; 145C: 274-279.
27. Bauer R, Timothy KW, Golden A. Update on the molecular genetics of Timothy syndrome. Front Pediatr 2021; 9: 668546.
28. Nowaczyk MJM, Irons MB. Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology. Am J Med Genet C Semin Med Genet 2012; 160C: 250-262.
29. Falzarano MS, Scotton C, Passarelli C, Ferlini A. Duchenne muscular dystrophy: from diagnosis to therapy. Molecules 2015; 20: 18168-18184.
30. Wenninger S, Montagnese F, Schoser B. Core clinical phenotypes in myotonic dystrophies. Front Neurol 2018; 9: 303.
31. Rodrigues JM, Fernandes HD, Caruthers C, Braddock SR, Knutsen AP. Cohen syndrome: review of the literature. Cureus 2018; 10: e3330.
32. Reilly C. Autism spectrum disorders in Down syndrome: a review. Res Autism Spectr Disord 2009; 3: 829-839.
33. Kesler SR. Turner syndrome. Child Adolesc Psychiatr Clin N Am 2007; 16: 709-722.
34. Groth KA, Skakkebæk A, Høst C, Gravholt CH, Bojesen A. Klinefelter syndrome: a clinical update. J Clin Endocrinol Metab 2013; 98: 20-30.
35. Bardsley MZ, Kowal K, Levy C, Gosek A, Ayari N, Tartaglia N, et al. 47,XYY syndrome: clinical phenotype and timing of ascertainment. J Pediatr 2013;163:1085-1094.
36. Kraus C, Vanicek T, Weidenauer A, Khanaqa T, Stamenkovic M, Lanzenberger R, et al. DiGeorge syndrome: relevance of psychiatric symptoms in undiagnosed adult patients. Wien Klin Wochenschr 2018; 130: 283-287.
37. Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, et al. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics 2010; 125: e727‑e735.
38. Schaefer GB, Mendelsohn NJ. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genet Med 2013; 15: 399-407.
39. Tammimies K, Marshall CR, Walker S, Kaur G, Thiruvahindrapuram B, Lionel AC, et al. Molecular diagnostic yield of chromosomal microarray analysis and whole‑exome sequencing in children with autism spectrum disorder. JAMA 2015; 314: 895-903.
40. Sandoval‑Talamantes AK, Mori MÁ, Santos‑Simarro F, García‑Miñaur S, Mansilla E, Tenorio JA, et al. Chromosomal microarray in patients with non‑syndromic autism spectrum disorders in the clini­cal routine of a tertiary hospital. Genes 2023; 14: 820.
41. Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An JY, et al. Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism. Cell 2020; 180: 568-584.e23.
42. Barton KS, Tabor HK, Starks H, Garrison NA, Laurino M, Burke W, et al. Pathways from autism spectrum disorder diagnosis to genetic testing. Genet Med 2018; 20: 737-744.
43. Al-Beltagi M. Autism medical comorbidities. World J Clin Pediatr 2021; 10: 15-28.
44. Rydzewska E, Dunn K, Cooper SA. Umbrella systematic review of systematic reviews and meta-analyses on comorbid physical conditions in people with autism spectrum disorder. Br J Psychiatry 2021; 218: 10-19.
45. Mutluer T, Aslan Genç H, Özcan Morey A, Yapici Eser H, Ertinmaz B, Can M, et al. Population‑based psychiatric comorbidity in children and adolescents with autism spectrum disorder: a meta‑analysis. Front Psychiatry 2022; 13: 856208.
46. Vannucchi G, Masi G, Toni C, Dell’Osso L, Marazziti D, Perugi G. Clinical features, developmental course, and psychiatric comorbidity of adult autism spectrum disorders. CNS Spectr 2014; 19: 157-164.
47. Madra M, Ringel R, Margolis KG. Gastrointestinal issues and autism spectrum disorder. Child Adolesc Psychiatr Clin N Am 2020; 29: 501-513.
48. Gabrielli AP, Manzardo AM, Butler MG. GeneAnalytics pathways and profiling of shared autism and cancer genes. Int J Mol Sci 2019; 20: 1166.
49. Brignell A, Morgan AT, Woolfenden S, Klopper F, May T, Sarkozy V, et al. A systematic review and meta‑analysis of the prognosis of language outcomes for individuals with autism spectrum disorder. Autism Dev Lang Impairments 2018; 3: 1-17.
50. Wodka EL, Mathy P, Kalb L. Predictors of phrase and fluent speech in children with autism and severe language delay. Pediatrics 2013; 131: e1128-e1134.
51. Friedman L, Sterling A, DaWalt LS, Mailick MR. Conversational language is a predictor of vocational independence and friendships in adults with ASD. J Autism Dev Disord 2019; 49: 4294-4305.
52. Farooq M, Walker LJ, Bowling J, Audisio RA. Cowden syndrome. Cancer Treat Rev 2010; 36: 577-583.
53. Antonarakis SE, Skotko BG, Rafii MS, Strydom A, Pape SE, Bianchi DW, et al. Down syndrome. Nat Rev Dis Primers 2020; 6: 9.
54. Butler MG, Miller JL, Forster JL. Prader-Willi syndrome: clinical genetics, diagnosis and treatment approaches. Curr Pediatr Rev 2019; 15: 207-244.
55. Hoffmann A. Communication in fragile X syndrome: patterns and implications for assessment and intervention. Am J Speech Lang Pathol 2022; 31: 1103-1115.
56. Voniati L, Papadopoulos A, Ziavra N, Tafiadis D. Communication abilities, assessment procedures, and intervention approaches in Rett syndrome: a narrative review. Brain Sci 2025; 15: 753.
57. Key AP, Roth S, Venker C. Spoken language comprehension in children and adults with Angelman syndrome. J Commun Disord 2022; 100: 106272.
58. Klein‑Tasman BP, van der Fluit F, Mervis CB. Autism spectrum symptomatology in children with Williams syndrome who have phrase speech or fluent language. J Autism Dev Disord 2018; 48: 3037‑3050.
59. Clayton-Smith J, Laan L. Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet 2003; 40: 87-95.
60. Shaaya EA, Grocott OR, Laing O, Thibert RL. Seizure treatment in Angelman syndrome: a case series from the Angelman Syndrome Clinic at Massachusetts General Hospital. Epilepsy Behav 2016; 58: 1-5.
61. Rüdel R. Symptomatic therapy of Duchenne muscular dystrophy. Acta Myol 2012; 31: 2-3.
62. U.S. Food and Drug Administration. FDA expands approval of gene therapy for patients with Duchenne muscular dystrophy, 2024.
63. Ozono K, Ogata T, Horikawa R, Matsubara Y, Ogawa Y, Nishijima K, et al. Efficacy and safety of two doses of somatropin in short stature due to Noonan syndrome. Endocr J 2018; 65: 159-174.
64. Şıklar Z, Genens M, Poyrazoğlu Ş, Baş F, Darendeliler F, Bundak R, et al. The growth characteristics of patients with Noonan syndrome: results of three years of growth hormone treatment: a nationwide multicenter study. J Clin Res Pediatr Endocrinol 2016; 8: 305-312.
65. Dahl NA, Luebbert T, Loi M, Neuberger I, Handler MH, Kleinschmidt-DeMasters BK, et al. Chordoma occurs in young children with tuberous sclerosis. J Neuropathol Exp Neurol 2017; 76: 418-423.
66. Yohay K. Neurofibromatosis type 1 and associated malignancies. Curr Neurol Neurosci Rep 2009; 9: 247-253.
67. Ocansey S, Cole TRP, Rahman N, Tatton‑Brown K. Sotos syndrome. GeneReviews®. Seattle (WA): University of Washington, Seattle 2004. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1479/ (accessed: 05.01.2019).
68. Smpokou P, Zand DJ, Rosenbaum KN, Summar ML. Malignancy in Noonan syndrome and related disorders. Clin Genet 2015; 88: 516-522.
69. Ji J, Zöller B, Sundquist J, Sundquist K. Risk of solid tumors and hematological malignancy in persons with Turner and Klinefelter syndromes: a national cohort study. Int J Cancer 2016; 139: 754-758.
70. Pellikaan K, Nguyen NQC, Rosenberg AGW, Coupaye M, Goldstone AP, Høybye C, et al. Malignancies in Prader‑Willi syndrome: results from a large international cohort and literature review. J Clin Endocrinol Metab 2023; 108: e1720-e1730.
71. Shavelle RM, Strauss DJ, Pickett J. Causes of death in autism. J Autism Dev Disord 2001; 31: 569-576.
72. Ruggieri V, Gómez JLC, Martínez MM, Arberas C. Aging and autism: understanding, intervention and proposals to improve quality of life. Curr Pharm Des 2019; 25: 4454-4461.
73. Schmidt E. Brains of people with Down syndrome age faster, UCLA study discovers. Available from: https://www.uclahealth.org/news/release/brains-of-people-with-down-syndrome-age-faster-ucla-study-discovers.
74. Anderson A, Wong K, Jacoby P, Downs J, Leonard H. Twenty years of surveillance in Rett syndrome: what does this tell us? Orphanet J Rare Dis 2014; 9: 87.
75. Gomes AT, Moore A, Cross M, Hardesty C, David K, Sampedro MG, et al. Community-sourced reporting of mortalities in Angelman syndrome (1979–2022). Am J Med Genet A 2024; 197: e6396.
76. Butler MG, Manzardo AM, Heinemann JA, Loker C, Loker J, Gold JA, et al. Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey. Genet Med 2017; 19: 635‑642.
77. Jenner L, Richards C, Howard R, Moss J. Heterogeneity of autism characteristics in genetic syndromes: key considerations for assessment and support. Curr Dev Disord Rep 2023; 10: 132-146.
78. Yahaya TO, Liman UU, Abdullahi H, Koko YS, Ribah SS, Adamu Z, et al. Genes predisposing to syndromic and nonsyndromic infertility: a narrative review. Egypt J Med Hum Genet 2020; 21: 46.
79. Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol 2017; 177: G1‑G70.
80. Angulo MA, Butler MG, Cataletto ME. Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings. J Endocrinol Invest 2015; 38: 1249-1263.
81. Şıklar Z, Genens M, Poyrazoğlu Ş, Baş F, Darendeliler F, Bundak R, et al. The growth characteristics of patients with Noonan syndrome: results of three years of growth hormone treatment: a nationwide multicenter study. J Clin Res Pediatr Endocrinol 2016; 8: 305-312.
82. Zegers-Hochschild F, Adamson GD, Dyer S, Racowsky C, de Mouzon J, Sokol R, et al. The International Glossary on Infertility and Fertility Care, 2017. Hum Reprod 2017; 32: 1786‑1801.
83. Kreiman BL, Boles RG. State of the art of genetic testing for patients with autism: a practical guide for clinicians. Semin Pediatr Neurol 2020; 34: 100804.
84. Hoffmann GF. Neurometabolic hereditary diseases of adults. J Inherit Metab Dis 2019; 42: 389.
85. Ozonoff S, Young GS, Landa RJ, Brian J, Bryson S, Charman T, et al. Diagnostic stability in young children at risk for autism spectrum disorder: a Baby Siblings Research Consortium study. J Child Psychol Psychiatry 2021; 62: 943‑951.
86. Bazelmans T, Arthur R, Pasco G, Shephard E, Milosavljevic B, Ali JB, et al. Mid-childhood autism sibling recurrence in infants with a family history of autism. Autism Res 2024; 17: 1501-1514.
87. Sandin S, Lichtenstein P, Kuja-Halkola R, Larsson H, Hultman CM, Reichenberg A, et al. The heritability of autism spectrum disorder. JAMA 2020 ;323: 1520‑1522.
88. Levy D, Ronemus M, Yamrom B, Lee YH, Leotta A, Kendall J, et al. Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron 2011; 70: 886‑897.
89. Betancur C. Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res 2011; 1380: 42-77.
Copyright: © 2026 Polish Society of Paediatrics. This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) License (http://creativecommons.org/licenses/by-nc-sa/4.0/), allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.
  
Termedia
About us Contact
Copyright notice Privacy policy Advertising policy Contact us
Quick links
Journals Books eBooks Events
© 2026 Termedia Sp. z o.o.
Developed by Termedia.