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Applying Whole Exome Sequencing in a Consanguineous Population with Autism Spectrum Disorder

Bibliographic Details
Title: Applying Whole Exome Sequencing in a Consanguineous Population with Autism Spectrum Disorder
Language: English
Authors: Al-Mamari, Watfa, Idris, Ahmed B., Al-Thihli, Khalid, Abdulrahim, Reem, Jalees, Saquib, Al-Jabri, Muna, Gabr, Ahlam, Al Murshedi, Fathiya, Al Kindy, Adila, Al-Hadabi, Intisar, Bruwer, Zandrè, Islam, M. Mazharul, Alsayegh, Abeer
Source: International Journal of Developmental Disabilities. 2023 69(2):190-200.
Availability: Taylor & Francis. Available from: Taylor & Francis, Ltd. 530 Walnut Street Suite 850, Philadelphia, PA 19106. Tel: 800-354-1420; Tel: 215-625-8900; Fax: 215-207-0050; Web site: http://www.tandf.co.uk/journals
Peer Reviewed: Y
Page Count: 11
Publication Date: 2023
Document Type: Journal Articles
Reports - Research
Descriptors: Autism Spectrum Disorders, Genetics, Children, Etiology, Clinical Diagnosis, Symptoms (Individual Disorders)
DOI: 10.1080/20473869.2021.1937000
ISSN: 2047-3869
2047-3877
Abstract: This study aimed to systematically assess the impact of clinical and demographic variables on the diagnostic yield of Whole Exome Sequencing (WES) when applied to children with Autism Spectrum Disorder (ASD) from a consanguineous population. Ninety-seven children were included in the analysis, 63% were male and 37% were females. 77.3% had a suspected syndromic aetiology of which 68% had co-existent central nervous system (CNS) clinical features, while 69% had other systems involved. The diagnostic yield of WES in our cohort with ASD was 34%. Children with seizures were more likely to have positive WES results (46% vs. 31%, p = 0.042). Probands with suspected syndromic ASD aetiology showed no significant differential impact on the diagnostic yield of WES.
Abstractor: As Provided
Entry Date: 2023
Accession Number: EJ1387817
Database: ERIC
FullText Text:
  Availability: 0
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  Data: Applying Whole Exome Sequencing in a Consanguineous Population with Autism Spectrum Disorder
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  Data: <searchLink fieldCode="AR" term="%22Al-Mamari%2C+Watfa%22">Al-Mamari, Watfa</searchLink><br /><searchLink fieldCode="AR" term="%22Idris%2C+Ahmed+B%2E%22">Idris, Ahmed B.</searchLink><br /><searchLink fieldCode="AR" term="%22Al-Thihli%2C+Khalid%22">Al-Thihli, Khalid</searchLink><br /><searchLink fieldCode="AR" term="%22Abdulrahim%2C+Reem%22">Abdulrahim, Reem</searchLink><br /><searchLink fieldCode="AR" term="%22Jalees%2C+Saquib%22">Jalees, Saquib</searchLink><br /><searchLink fieldCode="AR" term="%22Al-Jabri%2C+Muna%22">Al-Jabri, Muna</searchLink><br /><searchLink fieldCode="AR" term="%22Gabr%2C+Ahlam%22">Gabr, Ahlam</searchLink><br /><searchLink fieldCode="AR" term="%22Al+Murshedi%2C+Fathiya%22">Al Murshedi, Fathiya</searchLink><br /><searchLink fieldCode="AR" term="%22Al+Kindy%2C+Adila%22">Al Kindy, Adila</searchLink><br /><searchLink fieldCode="AR" term="%22Al-Hadabi%2C+Intisar%22">Al-Hadabi, Intisar</searchLink><br /><searchLink fieldCode="AR" term="%22Bruwer%2C+Zandrè%22">Bruwer, Zandrè</searchLink><br /><searchLink fieldCode="AR" term="%22Islam%2C+M%2E+Mazharul%22">Islam, M. Mazharul</searchLink><br /><searchLink fieldCode="AR" term="%22Alsayegh%2C+Abeer%22">Alsayegh, Abeer</searchLink>
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  Data: <searchLink fieldCode="SO" term="%22International+Journal+of+Developmental+Disabilities%22"><i>International Journal of Developmental Disabilities</i></searchLink>. 2023 69(2):190-200.
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  Data: Taylor & Francis. Available from: Taylor & Francis, Ltd. 530 Walnut Street Suite 850, Philadelphia, PA 19106. Tel: 800-354-1420; Tel: 215-625-8900; Fax: 215-207-0050; Web site: http://www.tandf.co.uk/journals
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  Data: Y
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  Data: 11
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  Data: <searchLink fieldCode="DE" term="%22Autism+Spectrum+Disorders%22">Autism Spectrum Disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Genetics%22">Genetics</searchLink><br /><searchLink fieldCode="DE" term="%22Children%22">Children</searchLink><br /><searchLink fieldCode="DE" term="%22Etiology%22">Etiology</searchLink><br /><searchLink fieldCode="DE" term="%22Clinical+Diagnosis%22">Clinical Diagnosis</searchLink><br /><searchLink fieldCode="DE" term="%22Symptoms+%28Individual+Disorders%29%22">Symptoms (Individual Disorders)</searchLink>
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  Data: 10.1080/20473869.2021.1937000
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  Data: 2047-3869<br />2047-3877
– Name: Abstract
  Label: Abstract
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  Data: This study aimed to systematically assess the impact of clinical and demographic variables on the diagnostic yield of Whole Exome Sequencing (WES) when applied to children with Autism Spectrum Disorder (ASD) from a consanguineous population. Ninety-seven children were included in the analysis, 63% were male and 37% were females. 77.3% had a suspected syndromic aetiology of which 68% had co-existent central nervous system (CNS) clinical features, while 69% had other systems involved. The diagnostic yield of WES in our cohort with ASD was 34%. Children with seizures were more likely to have positive WES results (46% vs. 31%, p = 0.042). Probands with suspected syndromic ASD aetiology showed no significant differential impact on the diagnostic yield of WES.
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