Genetics of autism spectrum disorders: a long road to pass
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 act...
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| Format: | Article |
| Language: | English |
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Discover STM Publishing Ltd
2019-12-01
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| Series: | Journal of Biochemical and Clinical Genetics |
| Subjects: | |
| Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=69945 |
| _version_ | 1797816704140574720 |
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| author | Abdul-Mohsen Alhejaily Majid Alfadhel |
| author_facet | Abdul-Mohsen Alhejaily Majid Alfadhel |
| author_sort | Abdul-Mohsen Alhejaily |
| collection | DOAJ |
| description | 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. [JBCGenetics 2019; 2(2.000): 122-138] |
| first_indexed | 2024-03-13T08:41:38Z |
| format | Article |
| id | doaj.art-ffc0bab9025d4808b86e4754eb88551e |
| institution | Directory Open Access Journal |
| issn | 1658-807X |
| language | English |
| last_indexed | 2024-03-13T08:41:38Z |
| publishDate | 2019-12-01 |
| publisher | Discover STM Publishing Ltd |
| record_format | Article |
| series | Journal of Biochemical and Clinical Genetics |
| spelling | doaj.art-ffc0bab9025d4808b86e4754eb88551e2023-05-30T11:45:05ZengDiscover STM Publishing LtdJournal of Biochemical and Clinical Genetics1658-807X2019-12-012212213810.24911/JBCGenetics/183-157129518069945Genetics of autism spectrum disorders: a long road to passAbdul-Mohsen Alhejaily0Majid Alfadhel1Faculty of Medicine, King Fahad Medical City KFMC, Riyadh, Kingdom of Saudi Arabia 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 ArabiaAutism 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. [JBCGenetics 2019; 2(2.000): 122-138]http://www.ejmanager.com/fulltextpdf.php?mno=69945autism spectrum disorderneuro-geneticsbiochemical testsepidemiologyautistic disordersdiagnosisreview |
| spellingShingle | Abdul-Mohsen Alhejaily Majid Alfadhel Genetics of autism spectrum disorders: a long road to pass Journal of Biochemical and Clinical Genetics autism spectrum disorder neuro-genetics biochemical tests epidemiology autistic disorders diagnosis review |
| title | Genetics of autism spectrum disorders: a long road to pass |
| title_full | Genetics of autism spectrum disorders: a long road to pass |
| title_fullStr | Genetics of autism spectrum disorders: a long road to pass |
| title_full_unstemmed | Genetics of autism spectrum disorders: a long road to pass |
| title_short | Genetics of autism spectrum disorders: a long road to pass |
| title_sort | genetics of autism spectrum disorders a long road to pass |
| topic | autism spectrum disorder neuro-genetics biochemical tests epidemiology autistic disorders diagnosis review |
| url | http://www.ejmanager.com/fulltextpdf.php?mno=69945 |
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