Neurodevelopmental continuum and pathogenic CNV detection in adult onset psychiatric disorders: microarray analysis in psychiatric clinical practice
Introduction Structural variations of DNA, such as copy number variations (CNVs), are important contributors to risk for human diseases. Several CNVs have been associated with an increased risk of early-onset neurodevelopmental disorders (NDD), adult-onset psychiatry disorders and physical comorbid...
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| Format: | Article |
| Language: | English |
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Cambridge University Press
2022-06-01
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| Series: | European Psychiatry |
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| Online Access: | https://www.cambridge.org/core/product/identifier/S0924933822017485/type/journal_article |
| _version_ | 1827754769161125888 |
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| author | Á. Ruiz De Pellón Santamaría |
| author_facet | Á. Ruiz De Pellón Santamaría |
| author_sort | Á. Ruiz De Pellón Santamaría |
| collection | DOAJ |
| description |
Introduction
Structural variations of DNA, such as copy number variations (CNVs), are important contributors to risk for human diseases. Several CNVs have been associated with an increased risk of early-onset neurodevelopmental disorders (NDD), adult-onset psychiatry disorders and physical comorbidities. While in Pediatrics the microarray is the first-line genetic analysis technique in the study of child onset NDD, its use in psychiatry care of young/adult onset NDD has been limited to research purposes.
Objectives
Review of the diagnostic yield of the use of microarrays analysis in psychiatric clinical practice of severe mental disorder care in adults, according to the concept of a neurodevelopmental continuum.
Methods
An exploratory literature review on the topic in PubMed, including the terms: “copy number variants/CNVs” AND “neurodevelopmental delay/disorders, congenital anomalies/malformations, ADHD, autism/ASD, learning disabilities, epilepsy, Tourette, schizophrenia, bipolar, behaviour”.
Results
The prevalence of carriers of pathogenic or likely pathogenic CNVs among the different NDD phenotypes investigated by microarray analysis ranged from 3-22.5%. The majority of studies in adult psychiatric populations examined schizophrenia. Intellectual disability, autism spectrum disorders, dysmorphic features and multiple NDD/psychiatric diagnoses were described as predictors of an increased diagnostic yield of microarray testing.
Conclusions
While CNV testing is frequent in early-onset NDD; microarray analysis has not been established in psychiatric clinical practice despite the evidence of a high prevalence of findings in adult-onset NDD. The potential benefits in the detection of CNV are associated with physical comorbidities detection, understanding of pathogenesis of disease or genetic counseling. High-quality research designs are required before a routine clinical use.
Disclosure
No significant relationships.
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| first_indexed | 2024-03-11T07:54:06Z |
| format | Article |
| id | doaj.art-f4e7612d98d34acf97b6fe7968b6700b |
| institution | Directory Open Access Journal |
| issn | 0924-9338 1778-3585 |
| language | English |
| last_indexed | 2024-03-11T07:54:06Z |
| publishDate | 2022-06-01 |
| publisher | Cambridge University Press |
| record_format | Article |
| series | European Psychiatry |
| spelling | doaj.art-f4e7612d98d34acf97b6fe7968b6700b2023-11-17T05:06:09ZengCambridge University PressEuropean Psychiatry0924-93381778-35852022-06-0165S679S67910.1192/j.eurpsy.2022.1748Neurodevelopmental continuum and pathogenic CNV detection in adult onset psychiatric disorders: microarray analysis in psychiatric clinical practiceÁ. Ruiz De Pellón Santamaría0Donostia University Hospital, Psychiatry, Donostia, Spain Introduction Structural variations of DNA, such as copy number variations (CNVs), are important contributors to risk for human diseases. Several CNVs have been associated with an increased risk of early-onset neurodevelopmental disorders (NDD), adult-onset psychiatry disorders and physical comorbidities. While in Pediatrics the microarray is the first-line genetic analysis technique in the study of child onset NDD, its use in psychiatry care of young/adult onset NDD has been limited to research purposes. Objectives Review of the diagnostic yield of the use of microarrays analysis in psychiatric clinical practice of severe mental disorder care in adults, according to the concept of a neurodevelopmental continuum. Methods An exploratory literature review on the topic in PubMed, including the terms: “copy number variants/CNVs” AND “neurodevelopmental delay/disorders, congenital anomalies/malformations, ADHD, autism/ASD, learning disabilities, epilepsy, Tourette, schizophrenia, bipolar, behaviour”. Results The prevalence of carriers of pathogenic or likely pathogenic CNVs among the different NDD phenotypes investigated by microarray analysis ranged from 3-22.5%. The majority of studies in adult psychiatric populations examined schizophrenia. Intellectual disability, autism spectrum disorders, dysmorphic features and multiple NDD/psychiatric diagnoses were described as predictors of an increased diagnostic yield of microarray testing. Conclusions While CNV testing is frequent in early-onset NDD; microarray analysis has not been established in psychiatric clinical practice despite the evidence of a high prevalence of findings in adult-onset NDD. The potential benefits in the detection of CNV are associated with physical comorbidities detection, understanding of pathogenesis of disease or genetic counseling. High-quality research designs are required before a routine clinical use. Disclosure No significant relationships. https://www.cambridge.org/core/product/identifier/S0924933822017485/type/journal_articleschizophréniaCNVsNeurodevelopmental disordersmicroarray analysis |
| spellingShingle | Á. Ruiz De Pellón Santamaría Neurodevelopmental continuum and pathogenic CNV detection in adult onset psychiatric disorders: microarray analysis in psychiatric clinical practice European Psychiatry schizophrénia CNVs Neurodevelopmental disorders microarray analysis |
| title | Neurodevelopmental continuum and pathogenic CNV detection in adult onset psychiatric disorders: microarray analysis in psychiatric clinical practice |
| title_full | Neurodevelopmental continuum and pathogenic CNV detection in adult onset psychiatric disorders: microarray analysis in psychiatric clinical practice |
| title_fullStr | Neurodevelopmental continuum and pathogenic CNV detection in adult onset psychiatric disorders: microarray analysis in psychiatric clinical practice |
| title_full_unstemmed | Neurodevelopmental continuum and pathogenic CNV detection in adult onset psychiatric disorders: microarray analysis in psychiatric clinical practice |
| title_short | Neurodevelopmental continuum and pathogenic CNV detection in adult onset psychiatric disorders: microarray analysis in psychiatric clinical practice |
| title_sort | neurodevelopmental continuum and pathogenic cnv detection in adult onset psychiatric disorders microarray analysis in psychiatric clinical practice |
| topic | schizophrénia CNVs Neurodevelopmental disorders microarray analysis |
| url | https://www.cambridge.org/core/product/identifier/S0924933822017485/type/journal_article |
| work_keys_str_mv | AT aruizdepellonsantamaria neurodevelopmentalcontinuumandpathogeniccnvdetectioninadultonsetpsychiatricdisordersmicroarrayanalysisinpsychiatricclinicalpractice |