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

Autor/inn/en	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
Titel	Applying Whole Exome Sequencing in a Consanguineous Population with Autism Spectrum Disorder
Quelle	In: International Journal of Developmental Disabilities, 69 (2023) 2, S.190-200 (11 Seiten)Infoseite zur Zeitschrift PDF als Volltext Verfügbarkeit
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	2047-3869
DOI	10.1080/20473869.2021.1937000
Schlagwörter	Autism Spectrum Disorders; Genetics; Children; Etiology; Clinical Diagnosis; Symptoms (Individual Disorders) + Suchen Sie Ihr Suchwort? Autism; Autismus; Humangenetik; Child; Kind; Kinder; Ätiologie; Psychiatrische Symptomatik
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. (As Provided).
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Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2024/1/01