Review Article
Volume: 2 | Issue: 2 | Published: Dec 10, 2019 | Pages: 122 - 138 | DOI: 10.24911/JBCGenetics/183-1571295180
Genetics of autism spectrum disorders: a long road to pass
Authors: Abdul-Mohsen Alhejaily , Majid Alfadhel
Article Info
Authors
Abdul-Mohsen Alhejaily
Faculty of Medicine, King Fahad Medical City KFMC, Riyadh, Kingdom of Saudi Arabia
Majid Alfadhel
Medical Genomics Research Department, King Abdullah International Medical Research Center KAIMRC, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia. King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Kingdom Saudi Arabia. Division of Genetics, Department of Pediatrics, King Abdullah specialized Childrens Hospital, Riyadh, Kingdom Saudi Arabia
Publication History
Received: October 17, 2019
Accepted: November 25, 2019
Published: December 10, 2019
Abstract
Autism spectrum disorder (ASD) or (OMIM #209850), which is a devastating neurodevelopmental disorder (NDD), is a severe childhood-onset disorder characterized by insufficiencies in social communication, verbal, and nonverbal communication and restricted or repetitive behavior or interests and/or activities. Until recently, the etiology of ASD has remained unclear. Over the last decade, a pivotal role for de novo germ line mutations has been established, conclusively. Such mutations have led to the discovery of a lot of ASD risk loci and genes. Autism belongs to a spectrum of disorders that share core symptoms; however, show considerable variation in severity. ASD affects approximately 0.6%0.7% of children worldwide, inducing a substantial public health burden and a cause of suffering for the affected families. Despite having a very high heritability, ASD has shown remarkable genetic heterogeneity, which has complicated the identification of risk variants and left the etiology mostly unknown. Last, we have observed an extraordinary and unprecedented revolution in the understanding of ASDs biology, genetics, and intervention. However, the increases in ASD incidence highlight the need for persistent efforts to identify novel ASD findings that may help in the development of effective medical interventions for all individuals with ASD. In this paper, we aim to highlight some significant studies of the genetic basis of ASD from genomic architecture, genome-wide, and single-candidate genes. Furthermore, we presented future research directions that might accelerate the pace of scientific discovery and eventually translate into empirically supported interventions for those affected with ASD.
Keywords: Autism spectrum disorder, neuro-genetics, biochemical tests, epidemiology, autistic disorders, diagnosis, review
Pubmed Style
Abdul-Mohsen Alhejaily, Majid Alfadhel. Genetics of autism spectrum disorders: a long road to pass. JBC Genetics. 2019; 10 (December 2019): 122-138. doi:10.24911/JBCGenetics/183-1571295180
Web Style
Abdul-Mohsen Alhejaily, Majid Alfadhel. Genetics of autism spectrum disorders: a long road to pass. https://www.jbcgenetics.com/articles/2183 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1571295180
AMA (American Medical Association) Style
Abdul-Mohsen Alhejaily, Majid Alfadhel. Genetics of autism spectrum disorders: a long road to pass. JBC Genetics. 2019; 10 (December 2019): 122-138. doi:10.24911/JBCGenetics/183-1571295180
Vancouver/ICMJE Style
Abdul-Mohsen Alhejaily, Majid Alfadhel. Genetics of autism spectrum disorders: a long road to pass. JBC Genetics. (2019), [cited April 27, 2025]; 10 (December 2019): 122-138. doi:10.24911/JBCGenetics/183-1571295180
Harvard Style
Abdul-Mohsen Alhejaily, Majid Alfadhel (2019) Genetics of autism spectrum disorders: a long road to pass. JBC Genetics, 10 (December 2019): 122-138. doi:10.24911/JBCGenetics/183-1571295180
Chicago Style
Abdul-Mohsen Alhejaily, Majid Alfadhel. "Genetics of autism spectrum disorders: a long road to pass." 10 (2019), 122-138. doi:10.24911/JBCGenetics/183-1571295180
MLA (The Modern Language Association) Style
Abdul-Mohsen Alhejaily, Majid Alfadhel. "Genetics of autism spectrum disorders: a long road to pass." 10.December 2019 (2019), 122-138. Print. doi:10.24911/JBCGenetics/183-1571295180
APA (American Psychological Association) Style
Abdul-Mohsen Alhejaily, Majid Alfadhel (2019) Genetics of autism spectrum disorders: a long road to pass. , 10 (December 2019), 122-138. doi:10.24911/JBCGenetics/183-1571295180