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Preliminary Findings on the Use of Array Comparative Genomic Hybridization in Youth with Autism Spectrum Disorder in Qatar: A Case Series Study.

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Title: Preliminary Findings on the Use of Array Comparative Genomic Hybridization in Youth with Autism Spectrum Disorder in Qatar: A Case Series Study.
Authors: Khoodoruth MAS; Child and Adolescent Mental Health Service, Hamad Medical Corporation, Doha, Qatar.; Division of Genomics and Precision Medicine, College of Health and Life Sciences, Hamad Bin Khalifa University, Education City, Doha, Qatar., Chut-Kai Khoodoruth WN; Centre of Disease Control and Prevention Department, Hamad Medical Corporation, Doha, Qatar., Alabdulla M; Mental Health Service, Hamad Medical Corporation, Doha, Qatar.; College of Medicine, Qatar University, Doha, Qatar., Khan YS; Child and Adolescent Mental Health Service, Hamad Medical Corporation, Doha, Qatar.
Source: The Journal of genetic psychology [J Genet Psychol] 2025 Jul-Aug; Vol. 186 (4), pp. 317-329. Date of Electronic Publication: 2025 Feb 06.
Publication Type: Journal Article; Case Reports
Language: English
Journal Info: Publisher: Psychology Press Country of Publication: United States NLM ID: 2985112R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1940-0896 (Electronic) Linking ISSN: 00221325 NLM ISO Abbreviation: J Genet Psychol Subsets: MEDLINE
Imprint Name(s): Publication: 2010- : Philadelphia : Psychology Press
Original Publication: Provincetown, Mass. : Journal Press
MeSH Terms: Autism Spectrum Disorder*/genetics , Autism Spectrum Disorder*/diagnosis , Comparative Genomic Hybridization*/methods, Humans ; Male ; Child ; Qatar
Abstract: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition with rising prevalence. Traditional diagnostic approaches often lack biological markers, making precision in diagnosis challenging. This study explores the role of array Comparative Genomic Hybridization (aCGH) in improving diagnostic accuracy for ASD. Five clinical vignettes of children diagnosed with ASD via DSM-5 or ADOS-2 were evaluated at a child and adolescent psychiatry clinic. Genome-wide oligonucleotide aCGH analysis was conducted using the Human Genome CGH Microarray kit (OGT), containing approximately 180,000 probes with 30-37 kb spacing based on the GRCh37 build. Fragile X syndrome was excluded using the Asuragen Amplidex PCR/CE FMR1 kit. The case series included boys aged 8-11 from diverse ethnic backgrounds (Asian, African, and Qatari), all presenting with varying degrees of ASD. Genetic analyses revealed significant chromosomal changes affecting eight genes, SHOX, HNF1B, COH1, AHNAK, DOCK8, TIAM1, TBL1XR1, and ALKBH8, highlighting diverse genetic contributions to ASD. These findings encompassed both chromosomal gains and losses, as well as variants of uncertain significance (VUS). The aCGH analyses provided valuable genetic insights, refining the diagnostic process and informing personalized management strategies for ASD. This suggests that aCGH is a useful tool in identifying clinically relevant genetic variations, particularly in settings with limited resources, where other diagnostic modalities may be less accessible.
Contributed Indexing: Keywords: Comparative genomic hybridization; DNA microarray; autism spectrum disorder; precision psychiatry
Entry Date(s): Date Created: 20250206 Date Completed: 20250630 Latest Revision: 20250708
Update Code: 20260130
DOI: 10.1080/00221325.2025.2454309
PMID: 39913128
Database: MEDLINE
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  Data: Preliminary Findings on the Use of Array Comparative Genomic Hybridization in Youth with Autism Spectrum Disorder in Qatar: A Case Series Study.
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  Data: <searchLink fieldCode="AU" term="%22Khoodoruth+MAS%22">Khoodoruth MAS</searchLink>; Child and Adolescent Mental Health Service, Hamad Medical Corporation, Doha, Qatar.; Division of Genomics and Precision Medicine, College of Health and Life Sciences, Hamad Bin Khalifa University, Education City, Doha, Qatar.<br /><searchLink fieldCode="AU" term="%22Chut-Kai+Khoodoruth+WN%22">Chut-Kai Khoodoruth WN</searchLink>; Centre of Disease Control and Prevention Department, Hamad Medical Corporation, Doha, Qatar.<br /><searchLink fieldCode="AU" term="%22Alabdulla+M%22">Alabdulla M</searchLink>; Mental Health Service, Hamad Medical Corporation, Doha, Qatar.; College of Medicine, Qatar University, Doha, Qatar.<br /><searchLink fieldCode="AU" term="%22Khan+YS%22">Khan YS</searchLink>; Child and Adolescent Mental Health Service, Hamad Medical Corporation, Doha, Qatar.
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  Data: <searchLink fieldCode="JN" term="%222985112R%22">The Journal of genetic psychology</searchLink> [J Genet Psychol] 2025 Jul-Aug; Vol. 186 (4), pp. 317-329. <i>Date of Electronic Publication: </i>2025 Feb 06.
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  Data: Journal Article; Case Reports
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  Data: English
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Psychology+Press%22">Psychology Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>2985112R <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1940-0896 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200221325%22">00221325 </searchLink><i>NLM ISO Abbreviation: </i>J Genet Psychol <i>Subsets: </i>MEDLINE
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  Data: <i>Publication</i>: 2010- : Philadelphia : Psychology Press<br /><i>Original Publication</i>: Provincetown, Mass. : Journal Press
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  Data: <searchLink fieldCode="MM" term="%22Autism+Spectrum+Disorder%22">Autism Spectrum Disorder*</searchLink>/<searchLink fieldCode="MM" term="%22Autism+Spectrum+Disorder+genetics%22">genetics</searchLink> <br /><searchLink fieldCode="MM" term="%22Autism+Spectrum+Disorder%22">Autism Spectrum Disorder*</searchLink>/<searchLink fieldCode="MM" term="%22Autism+Spectrum+Disorder+diagnosis%22">diagnosis</searchLink> <br /><searchLink fieldCode="MM" term="%22Comparative+Genomic+Hybridization%22">Comparative Genomic Hybridization*</searchLink>/<searchLink fieldCode="MM" term="%22Comparative+Genomic+Hybridization+methods%22">methods</searchLink><br /><searchLink fieldCode="MH" term="%22Humans%22">Humans</searchLink> ; <searchLink fieldCode="MH" term="%22Male%22">Male</searchLink> ; <searchLink fieldCode="MH" term="%22Child%22">Child</searchLink> ; <searchLink fieldCode="MH" term="%22Qatar%22">Qatar</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition with rising prevalence. Traditional diagnostic approaches often lack biological markers, making precision in diagnosis challenging. This study explores the role of array Comparative Genomic Hybridization (aCGH) in improving diagnostic accuracy for ASD. Five clinical vignettes of children diagnosed with ASD via DSM-5 or ADOS-2 were evaluated at a child and adolescent psychiatry clinic. Genome-wide oligonucleotide aCGH analysis was conducted using the Human Genome CGH Microarray kit (OGT), containing approximately 180,000 probes with 30-37 kb spacing based on the GRCh37 build. Fragile X syndrome was excluded using the Asuragen Amplidex PCR/CE FMR1 kit. The case series included boys aged 8-11 from diverse ethnic backgrounds (Asian, African, and Qatari), all presenting with varying degrees of ASD. Genetic analyses revealed significant chromosomal changes affecting eight genes, SHOX, HNF1B, COH1, AHNAK, DOCK8, TIAM1, TBL1XR1, and ALKBH8, highlighting diverse genetic contributions to ASD. These findings encompassed both chromosomal gains and losses, as well as variants of uncertain significance (VUS). The aCGH analyses provided valuable genetic insights, refining the diagnostic process and informing personalized management strategies for ASD. This suggests that aCGH is a useful tool in identifying clinically relevant genetic variations, particularly in settings with limited resources, where other diagnostic modalities may be less accessible.
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  Data: <i>Keywords: </i>Comparative genomic hybridization; DNA microarray; autism spectrum disorder; precision psychiatry
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  Data: <i>Date Created: </i>20250206 <i>Date Completed: </i>20250630 <i>Latest Revision: </i>20250708
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  Data: 10.1080/00221325.2025.2454309
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  Data: 39913128
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        Value: 10.1080/00221325.2025.2454309
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        Text: English
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        StartPage: 317
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        Type: general
      – SubjectFull: Qatar
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      – SubjectFull: Autism Spectrum Disorder genetics
        Type: general
      – SubjectFull: Autism Spectrum Disorder diagnosis
        Type: general
      – SubjectFull: Comparative Genomic Hybridization methods
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      – TitleFull: Preliminary Findings on the Use of Array Comparative Genomic Hybridization in Youth with Autism Spectrum Disorder in Qatar: A Case Series Study.
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            NameFull: Chut-Kai Khoodoruth WN
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              Text: 2025 Jul-Aug
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