Yield of Genetic Testing in Children with Autism Spectrum Disorder – A Single-Center Experience
Identifying genetic etiologies is an important consideration in the comprehensive management of autism spectrum disorder (ASD). In this study, we aimed to evaluate and compare the diagnostic yield of genetic tests in ASD. This retrospective descriptive study evaluated and compared the diagnostic yie...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2025-03-01
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| Series: | Annals of Indian Academy of Neurology |
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| Online Access: | https://journals.lww.com/10.4103/aian.aian_724_24 |
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| author | Kriti Arora Minakshi Balwani Akash Wakchaure Gouri R Passi |
| author_facet | Kriti Arora Minakshi Balwani Akash Wakchaure Gouri R Passi |
| author_sort | Kriti Arora |
| collection | DOAJ |
| description | Identifying genetic etiologies is an important consideration in the comprehensive management of autism spectrum disorder (ASD). In this study, we aimed to evaluate and compare the diagnostic yield of genetic tests in ASD. This retrospective descriptive study evaluated and compared the diagnostic yield of genetic tests in patients with ASD in a teaching hospital from Central India between 2018 and 2023. Fifty-four patients were tested. Pathogenic/likely pathogenic variants were identified in 13 (24.07%) patients. Yield of whole exome sequencing (WES), 12/27 (44.49%), was more than that of chromosomal microarray (CMA) 1/30 (3.3%) (P < 0.05). Fragile-X gene mutation was detected in 0/14 patients tested. Patients with motor delay and hand stereotypes were more likely to have pathogenic variants on WES. The most common pathogenic gene identified was the MECP2 gene (5/12, 41.66%). Genetic abnormalities were identified in 24.07% of children with ASD. WES had higher diagnostic yield than CMA. |
| format | Article |
| id | doaj-art-55ffa789d4a24e698124fe0a6fbf7362 |
| institution | OA Journals |
| issn | 0972-2327 1998-3549 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Annals of Indian Academy of Neurology |
| spelling | doaj-art-55ffa789d4a24e698124fe0a6fbf73622025-08-20T01:47:32ZengWolters Kluwer Medknow PublicationsAnnals of Indian Academy of Neurology0972-23271998-35492025-03-0128225325610.4103/aian.aian_724_24Yield of Genetic Testing in Children with Autism Spectrum Disorder – A Single-Center ExperienceKriti AroraMinakshi BalwaniAkash WakchaureGouri R PassiIdentifying genetic etiologies is an important consideration in the comprehensive management of autism spectrum disorder (ASD). In this study, we aimed to evaluate and compare the diagnostic yield of genetic tests in ASD. This retrospective descriptive study evaluated and compared the diagnostic yield of genetic tests in patients with ASD in a teaching hospital from Central India between 2018 and 2023. Fifty-four patients were tested. Pathogenic/likely pathogenic variants were identified in 13 (24.07%) patients. Yield of whole exome sequencing (WES), 12/27 (44.49%), was more than that of chromosomal microarray (CMA) 1/30 (3.3%) (P < 0.05). Fragile-X gene mutation was detected in 0/14 patients tested. Patients with motor delay and hand stereotypes were more likely to have pathogenic variants on WES. The most common pathogenic gene identified was the MECP2 gene (5/12, 41.66%). Genetic abnormalities were identified in 24.07% of children with ASD. WES had higher diagnostic yield than CMA.https://journals.lww.com/10.4103/aian.aian_724_24autismgenetic testsexome sequencing |
| spellingShingle | Kriti Arora Minakshi Balwani Akash Wakchaure Gouri R Passi Yield of Genetic Testing in Children with Autism Spectrum Disorder – A Single-Center Experience Annals of Indian Academy of Neurology autism genetic tests exome sequencing |
| title | Yield of Genetic Testing in Children with Autism Spectrum Disorder – A Single-Center Experience |
| title_full | Yield of Genetic Testing in Children with Autism Spectrum Disorder – A Single-Center Experience |
| title_fullStr | Yield of Genetic Testing in Children with Autism Spectrum Disorder – A Single-Center Experience |
| title_full_unstemmed | Yield of Genetic Testing in Children with Autism Spectrum Disorder – A Single-Center Experience |
| title_short | Yield of Genetic Testing in Children with Autism Spectrum Disorder – A Single-Center Experience |
| title_sort | yield of genetic testing in children with autism spectrum disorder a single center experience |
| topic | autism genetic tests exome sequencing |
| url | https://journals.lww.com/10.4103/aian.aian_724_24 |
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