Sex differences in autism spectrum disorder using class imbalance adjusted functional connectivity

Autism spectrum disorder (ASD) is an atypical neurodevelopmental condition with a diagnostic ratio largely differing between male and female participants. Due to the sex imbalance in participants with ASD, we lack an understanding of the differences in connectome organization of the brain between ma...

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Main Authors: Jong Young Namgung, Jongmin Mun, Yeongjun Park, Jaeoh Kim, Bo-yong Park
Format: Article
Language:English
Published: Elsevier 2024-12-01
Series:NeuroImage
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Online Access:http://www.sciencedirect.com/science/article/pii/S1053811924004531
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author Jong Young Namgung
Jongmin Mun
Yeongjun Park
Jaeoh Kim
Bo-yong Park
author_facet Jong Young Namgung
Jongmin Mun
Yeongjun Park
Jaeoh Kim
Bo-yong Park
author_sort Jong Young Namgung
collection DOAJ
description Autism spectrum disorder (ASD) is an atypical neurodevelopmental condition with a diagnostic ratio largely differing between male and female participants. Due to the sex imbalance in participants with ASD, we lack an understanding of the differences in connectome organization of the brain between male and female participants with ASD. In this study, we matched the sex ratio using a Gaussian mixture model-based oversampling technique and investigated the differences in functional connectivity between male and female participants with ASD using low-dimensional principal gradients. Between-group comparisons of the gradient values revealed significant interaction effects of sex in the sensorimotor, attention, and default mode networks. The sex-related differences in the gradients were highly associated with higher-order cognitive control processes. Transcriptomic association analysis provided potential biological underpinnings, specifying gene enrichment in the cortex, thalamus, and striatum during development. Finally, the principal gradients were differentially associated with symptom severity of ASD between sexes, highlighting significant effects in female participants with ASD. Our work proposed an oversampling method to mitigate sex imbalance in ASD and observed significant sex-related differences in functional connectome organization. The findings may advance our knowledge about the sex heterogeneity in large-scale brain networks in ASD.
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spelling doaj-art-1c5c602f9d784a939ca1befc15ae96fa2025-08-20T01:59:00ZengElsevierNeuroImage1095-95722024-12-0130412095610.1016/j.neuroimage.2024.120956Sex differences in autism spectrum disorder using class imbalance adjusted functional connectivityJong Young Namgung0Jongmin Mun1Yeongjun Park2Jaeoh Kim3Bo-yong Park4Department of Data Science, Inha University, Incheon, Republic of KoreaData Sciences and Operations Department, Marshall School of Business, University of Southern California, Los Angeles, United StatesDepartment of Electrical and Computer Engineering, Sungkyunkwan University, Suwon, Republic of KoreaDepartment of Data Science, Inha University, Incheon, Republic of Korea; Corresponding authors.Department of Brain and Cognitive Engineering, Korea University, Seoul, Republic of Korea; Center for Neuroscience Imaging Research, Institute for Basic Science, Suwon, Republic of Korea; Corresponding authors.Autism spectrum disorder (ASD) is an atypical neurodevelopmental condition with a diagnostic ratio largely differing between male and female participants. Due to the sex imbalance in participants with ASD, we lack an understanding of the differences in connectome organization of the brain between male and female participants with ASD. In this study, we matched the sex ratio using a Gaussian mixture model-based oversampling technique and investigated the differences in functional connectivity between male and female participants with ASD using low-dimensional principal gradients. Between-group comparisons of the gradient values revealed significant interaction effects of sex in the sensorimotor, attention, and default mode networks. The sex-related differences in the gradients were highly associated with higher-order cognitive control processes. Transcriptomic association analysis provided potential biological underpinnings, specifying gene enrichment in the cortex, thalamus, and striatum during development. Finally, the principal gradients were differentially associated with symptom severity of ASD between sexes, highlighting significant effects in female participants with ASD. Our work proposed an oversampling method to mitigate sex imbalance in ASD and observed significant sex-related differences in functional connectome organization. The findings may advance our knowledge about the sex heterogeneity in large-scale brain networks in ASD.http://www.sciencedirect.com/science/article/pii/S1053811924004531Class imbalanceGaussian mixture modelOversamplingAutism spectrum disorderFunctional gradientSex difference
spellingShingle Jong Young Namgung
Jongmin Mun
Yeongjun Park
Jaeoh Kim
Bo-yong Park
Sex differences in autism spectrum disorder using class imbalance adjusted functional connectivity
NeuroImage
Class imbalance
Gaussian mixture model
Oversampling
Autism spectrum disorder
Functional gradient
Sex difference
title Sex differences in autism spectrum disorder using class imbalance adjusted functional connectivity
title_full Sex differences in autism spectrum disorder using class imbalance adjusted functional connectivity
title_fullStr Sex differences in autism spectrum disorder using class imbalance adjusted functional connectivity
title_full_unstemmed Sex differences in autism spectrum disorder using class imbalance adjusted functional connectivity
title_short Sex differences in autism spectrum disorder using class imbalance adjusted functional connectivity
title_sort sex differences in autism spectrum disorder using class imbalance adjusted functional connectivity
topic Class imbalance
Gaussian mixture model
Oversampling
Autism spectrum disorder
Functional gradient
Sex difference
url http://www.sciencedirect.com/science/article/pii/S1053811924004531
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AT yeongjunpark sexdifferencesinautismspectrumdisorderusingclassimbalanceadjustedfunctionalconnectivity
AT jaeohkim sexdifferencesinautismspectrumdisorderusingclassimbalanceadjustedfunctionalconnectivity
AT boyongpark sexdifferencesinautismspectrumdisorderusingclassimbalanceadjustedfunctionalconnectivity