374 Identification of Psychosis Risk Biomarkers in 22q11DS for future translational studies
OBJECTIVES/GOALS: 22q.11 deletion syndrome (22q11DS) is a genomic syndrome that elevates risk for psychosis >20-fold. We used a battery of cognitive and psychophysiological psychosis-risk biomarkers in 22q11DS patients and healthy subjects in order to identify biomarkers of psychosis in 22q11DS t...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Cambridge University Press
2023-04-01
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| Series: | Journal of Clinical and Translational Science |
| Online Access: | https://www.cambridge.org/core/product/identifier/S2059866123004120/type/journal_article |
| _version_ | 1797840427601100800 |
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| author | David Parker Sid Imes Gabrielle Ruben Bruce Cuthbert Brett Hershey Elaine Walker Opal Ousley Joseph Cubells Erica Duncan |
| author_facet | David Parker Sid Imes Gabrielle Ruben Bruce Cuthbert Brett Hershey Elaine Walker Opal Ousley Joseph Cubells Erica Duncan |
| author_sort | David Parker |
| collection | DOAJ |
| description | OBJECTIVES/GOALS: 22q.11 deletion syndrome (22q11DS) is a genomic syndrome that elevates risk for psychosis >20-fold. We used a battery of cognitive and psychophysiological psychosis-risk biomarkers in 22q11DS patients and healthy subjects in order to identify biomarkers of psychosis in 22q11DS that could be used as translational targets in intervention studies. METHODS/STUDY POPULATION: We recruited 15 22q11DS individuals (Mean age=30, M/F=9/6) and 19 healthy controls (HCs; Mean age=34, M/F=5/14). Each individual completed the MATRICS Consensus Cognitive Battery (MCCB), the Wechsler Abbreviated Scale of Intelligence, Second edition (WASI-II) Verbal IQ subtests, and the computerized Wisconsin Card Sorting Task (WCST). To examine auditory EEG responses, each participant completed the 'Double-Deviant' target detection paradigm, which presents a pseudorandom sequence of frequent standard tones and infrequent deviant tones. Mismatch negativity (MMN) metrics were generated from this assessment. Welch's t-tests were completed for neurocognitive variables. One-Way ANOVAs were completed to examine EEG results, with sex entered as a separate factor and age entered as a covariate. RESULTS/ANTICIPATED RESULTS: Significant group differences were found in 8 of the 9 neurocognitive measurements (FDR-adjusted p's< 0.02, average Cohen's d=1.62, average observed power= 0.91) indicating widespread cognitive deficits in 22q11DS subjects across multiple domains. The Double-Deviant MMN ERP response was significantly smaller in absolute magnitude in the 22q11DS group (FDR-adjusted p=0.048, Cohen’s d= -0.864, observed power= 0.58). The MMN ERPs for the frequency and duration deviants were not significantly different (FDR-adjusted p's> 0.33). No group by sex interactions were observed in any of the measures. Neurocognitive variables were associated with psychosis positive, negative, general, and disorganized symptom scales. DISCUSSION/SIGNIFICANCE: Our results identify potential psychosis-risk biomarkers in 22q11DS. If replicated, these biomarkers could provide important translational targets for future clinical trials for individuals with 22q11DS and other individuals at-risk for psychosis syndromes. |
| first_indexed | 2024-04-09T16:14:56Z |
| format | Article |
| id | doaj.art-a9db72abecb1414882c3ce03cea455c1 |
| institution | Directory Open Access Journal |
| issn | 2059-8661 |
| language | English |
| last_indexed | 2024-04-09T16:14:56Z |
| publishDate | 2023-04-01 |
| publisher | Cambridge University Press |
| record_format | Article |
| series | Journal of Clinical and Translational Science |
| spelling | doaj.art-a9db72abecb1414882c3ce03cea455c12023-04-24T05:55:57ZengCambridge University PressJournal of Clinical and Translational Science2059-86612023-04-01711111110.1017/cts.2023.412374 Identification of Psychosis Risk Biomarkers in 22q11DS for future translational studiesDavid Parker0Sid Imes1Gabrielle Ruben2Bruce Cuthbert3Brett Hershey4Elaine Walker5Opal Ousley6Joseph Cubells7Erica Duncan8Emory University School of MedicineEmory UniversityEmory UniversityEmory UniversityEmory UniversityEmory UniversityEmory University School of MedicineEmory University School of MedicineEmory University School of Medicine / Atlanta Veterans Affairs Health Care SystemOBJECTIVES/GOALS: 22q.11 deletion syndrome (22q11DS) is a genomic syndrome that elevates risk for psychosis >20-fold. We used a battery of cognitive and psychophysiological psychosis-risk biomarkers in 22q11DS patients and healthy subjects in order to identify biomarkers of psychosis in 22q11DS that could be used as translational targets in intervention studies. METHODS/STUDY POPULATION: We recruited 15 22q11DS individuals (Mean age=30, M/F=9/6) and 19 healthy controls (HCs; Mean age=34, M/F=5/14). Each individual completed the MATRICS Consensus Cognitive Battery (MCCB), the Wechsler Abbreviated Scale of Intelligence, Second edition (WASI-II) Verbal IQ subtests, and the computerized Wisconsin Card Sorting Task (WCST). To examine auditory EEG responses, each participant completed the 'Double-Deviant' target detection paradigm, which presents a pseudorandom sequence of frequent standard tones and infrequent deviant tones. Mismatch negativity (MMN) metrics were generated from this assessment. Welch's t-tests were completed for neurocognitive variables. One-Way ANOVAs were completed to examine EEG results, with sex entered as a separate factor and age entered as a covariate. RESULTS/ANTICIPATED RESULTS: Significant group differences were found in 8 of the 9 neurocognitive measurements (FDR-adjusted p's< 0.02, average Cohen's d=1.62, average observed power= 0.91) indicating widespread cognitive deficits in 22q11DS subjects across multiple domains. The Double-Deviant MMN ERP response was significantly smaller in absolute magnitude in the 22q11DS group (FDR-adjusted p=0.048, Cohen’s d= -0.864, observed power= 0.58). The MMN ERPs for the frequency and duration deviants were not significantly different (FDR-adjusted p's> 0.33). No group by sex interactions were observed in any of the measures. Neurocognitive variables were associated with psychosis positive, negative, general, and disorganized symptom scales. DISCUSSION/SIGNIFICANCE: Our results identify potential psychosis-risk biomarkers in 22q11DS. If replicated, these biomarkers could provide important translational targets for future clinical trials for individuals with 22q11DS and other individuals at-risk for psychosis syndromes.https://www.cambridge.org/core/product/identifier/S2059866123004120/type/journal_article |
| spellingShingle | David Parker Sid Imes Gabrielle Ruben Bruce Cuthbert Brett Hershey Elaine Walker Opal Ousley Joseph Cubells Erica Duncan 374 Identification of Psychosis Risk Biomarkers in 22q11DS for future translational studies Journal of Clinical and Translational Science |
| title | 374 Identification of Psychosis Risk Biomarkers in 22q11DS for future translational studies |
| title_full | 374 Identification of Psychosis Risk Biomarkers in 22q11DS for future translational studies |
| title_fullStr | 374 Identification of Psychosis Risk Biomarkers in 22q11DS for future translational studies |
| title_full_unstemmed | 374 Identification of Psychosis Risk Biomarkers in 22q11DS for future translational studies |
| title_short | 374 Identification of Psychosis Risk Biomarkers in 22q11DS for future translational studies |
| title_sort | 374 identification of psychosis risk biomarkers in 22q11ds for future translational studies |
| url | https://www.cambridge.org/core/product/identifier/S2059866123004120/type/journal_article |
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