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Beyond IQ: executive function deficits and their relation to functional, clinical, and neuroimaging outcomes in 3q29 deletion syndrome.

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Title: Beyond IQ: executive function deficits and their relation to functional, clinical, and neuroimaging outcomes in 3q29 deletion syndrome.
Authors: Pollak, Rebecca M., Sefik, Esra, Aberizk, Katrina, Duan, Kuaikuai, Espana, Roberto, Guest, Ryan M., Goldman-Yassen, Adam E., Goines, Katrina, Novacek, Derek M., Saulnier, Celine A., Klaiman, Cheryl, Pulver, Stormi, Cubells, Joseph F., Burrell, T. Lindsey, Shultz, Sarah, Walker, Elaine F., Murphy, Melissa M., Mulle, Jennifer G.
Source: Psychological Medicine. Oct2024, Vol. 54 Issue 14, p3876-3887. 12p.
Subjects: Cognition disorder risk factors, Risk assessment, Intellect, Attention-deficit hyperactivity disorder, T-test (Statistics), Receiver operating characteristic curves, Research funding, Executive function, Chromosome abnormalities, Magnetic resonance imaging, Descriptive statistics, Longitudinal method, Neuropsychological tests, Neuroradiology, Psychological tests, Data analysis software, Phenotypes, Sensitivity & specificity (Statistics), Disease complications
Abstract: Background: 3q29 deletion syndrome (3q29del) is a rare (~1:30 000) genomic disorder associated with a wide array of neurodevelopmental and psychiatric phenotypes. Prior work by our team identified clinically significant executive function (EF) deficits in 47% of individuals with 3q29del; however, the nuances of EF in this population have not been described. Methods: We used the Behavior Rating Inventory of Executive Function (BRIEF) to perform the first in-depth assessment of real-world EF in a cohort of 32 individuals with 3q29del (62.5% male, mean age = 14.5 ± 8.3 years). All participants were also evaluated with gold-standard neuropsychiatric and cognitive assessments. High-resolution structural magnetic resonance imaging was performed on a subset of participants (n = 24). Results: We found global deficits in EF; individuals with 3q29del scored higher than the population mean on the BRIEF global executive composite (GEC) and all subscales. In total, 81.3% of study subjects (n = 26) scored in the clinical range on at least one BRIEF subscale. BRIEF GEC T scores were higher among 3q29del participants with a diagnosis of attention deficit/hyperactivity disorder (ADHD), and BRIEF GEC T scores were associated with schizophrenia spectrum symptoms as measured by the Structured Interview for Psychosis-Risk Syndromes. BRIEF GEC T scores were not associated with cognitive ability. The BRIEF-2 ADHD form accurately (sensitivity = 86.7%) classified individuals with 3q29del based on ADHD diagnosis status. BRIEF GEC T scores were correlated with cerebellar white matter and subregional cerebellar cortex volumes. Conclusions: Together, these data expand our understanding of the phenotypic spectrum of 3q29del and identify EF as a core feature linked to both psychiatric and neuroanatomical features of the syndrome. [ABSTRACT FROM AUTHOR]
Copyright of Psychological Medicine is the property of Cambridge University Press and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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  Data: Beyond IQ: executive function deficits and their relation to functional, clinical, and neuroimaging outcomes in 3q29 deletion syndrome.
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  Data: <searchLink fieldCode="AR" term="%22Pollak%2C+Rebecca+M%2E%22">Pollak, Rebecca M.</searchLink><br /><searchLink fieldCode="AR" term="%22Sefik%2C+Esra%22">Sefik, Esra</searchLink><br /><searchLink fieldCode="AR" term="%22Aberizk%2C+Katrina%22">Aberizk, Katrina</searchLink><br /><searchLink fieldCode="AR" term="%22Duan%2C+Kuaikuai%22">Duan, Kuaikuai</searchLink><br /><searchLink fieldCode="AR" term="%22Espana%2C+Roberto%22">Espana, Roberto</searchLink><br /><searchLink fieldCode="AR" term="%22Guest%2C+Ryan+M%2E%22">Guest, Ryan M.</searchLink><br /><searchLink fieldCode="AR" term="%22Goldman-Yassen%2C+Adam+E%2E%22">Goldman-Yassen, Adam E.</searchLink><br /><searchLink fieldCode="AR" term="%22Goines%2C+Katrina%22">Goines, Katrina</searchLink><br /><searchLink fieldCode="AR" term="%22Novacek%2C+Derek+M%2E%22">Novacek, Derek M.</searchLink><br /><searchLink fieldCode="AR" term="%22Saulnier%2C+Celine+A%2E%22">Saulnier, Celine A.</searchLink><br /><searchLink fieldCode="AR" term="%22Klaiman%2C+Cheryl%22">Klaiman, Cheryl</searchLink><br /><searchLink fieldCode="AR" term="%22Pulver%2C+Stormi%22">Pulver, Stormi</searchLink><br /><searchLink fieldCode="AR" term="%22Cubells%2C+Joseph+F%2E%22">Cubells, Joseph F.</searchLink><br /><searchLink fieldCode="AR" term="%22Burrell%2C+T%2E+Lindsey%22">Burrell, T. Lindsey</searchLink><br /><searchLink fieldCode="AR" term="%22Shultz%2C+Sarah%22">Shultz, Sarah</searchLink><br /><searchLink fieldCode="AR" term="%22Walker%2C+Elaine+F%2E%22">Walker, Elaine F.</searchLink><br /><searchLink fieldCode="AR" term="%22Murphy%2C+Melissa+M%2E%22">Murphy, Melissa M.</searchLink><br /><searchLink fieldCode="AR" term="%22Mulle%2C+Jennifer+G%2E%22">Mulle, Jennifer G.</searchLink>
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  Data: <searchLink fieldCode="JN" term="%22Psychological+Medicine%22">Psychological Medicine</searchLink>. Oct2024, Vol. 54 Issue 14, p3876-3887. 12p.
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  Data: Background: 3q29 deletion syndrome (3q29del) is a rare (~1:30 000) genomic disorder associated with a wide array of neurodevelopmental and psychiatric phenotypes. Prior work by our team identified clinically significant executive function (EF) deficits in 47% of individuals with 3q29del; however, the nuances of EF in this population have not been described. Methods: We used the Behavior Rating Inventory of Executive Function (BRIEF) to perform the first in-depth assessment of real-world EF in a cohort of 32 individuals with 3q29del (62.5% male, mean age = 14.5 ± 8.3 years). All participants were also evaluated with gold-standard neuropsychiatric and cognitive assessments. High-resolution structural magnetic resonance imaging was performed on a subset of participants (n = 24). Results: We found global deficits in EF; individuals with 3q29del scored higher than the population mean on the BRIEF global executive composite (GEC) and all subscales. In total, 81.3% of study subjects (n = 26) scored in the clinical range on at least one BRIEF subscale. BRIEF GEC T scores were higher among 3q29del participants with a diagnosis of attention deficit/hyperactivity disorder (ADHD), and BRIEF GEC T scores were associated with schizophrenia spectrum symptoms as measured by the Structured Interview for Psychosis-Risk Syndromes. BRIEF GEC T scores were not associated with cognitive ability. The BRIEF-2 ADHD form accurately (sensitivity = 86.7%) classified individuals with 3q29del based on ADHD diagnosis status. BRIEF GEC T scores were correlated with cerebellar white matter and subregional cerebellar cortex volumes. Conclusions: Together, these data expand our understanding of the phenotypic spectrum of 3q29del and identify EF as a core feature linked to both psychiatric and neuroanatomical features of the syndrome. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Psychological Medicine is the property of Cambridge University Press and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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