The Link Between Autism and Sex-Related Neuroanatomy, and Associated Cognition and Gene Expression
Objective: - The male preponderance in prevalence of autism is among the most pronounced sex ratios across neurodevelopmental conditions. The authors sought to elucidate the relationship between autism and typical sex-differential neuroanatomy, cognition, and related gene expression. - Methods: - Us...
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| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
January 2023
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| In: |
The American journal of psychiatry
Year: 2023, Volume: 180, Issue: 1, Pages: 50-64 |
| ISSN: | 1535-7228 |
| DOI: | 10.1176/appi.ajp.20220194 |
| Online Access: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1176/appi.ajp.20220194 Verlag, lizenzpflichtig, Volltext: https://psychiatryonline.org/doi/10.1176/appi.ajp.20220194 
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| Author Notes: | Dorothea L. Floris, Ph.D., Han Peng, Ph.D., Varun Warrier, Ph.D., Michael V. Lombardo, Ph.D., Charlotte M. Pretzsch, Ph.D., Clara Moreau, Ph.D., Alex Tsompanidis, M.D., Ph.D., Weikang Gong, Ph.D., Maarten Mennes, Ph.D., Alberto Llera, Ph.D., Daan van Rooij, Ph.D., Marianne Oldehinkel, Ph.D., Natalie J. Forde, Ph.D., Tony Charman, Ph.D., Julian Tillmann, Ph.D., Tobias Banaschewski, M.D., Ph.D., Carolin Moessnang, Ph.D., Sarah Durston, Ph.D., Rosemary J. Holt, Ph.D., Christine Ecker, Ph.D., Flavio Dell’Acqua, Ph.D., Eva Loth, Ph.D., Thomas Bourgeron, Ph.D., Declan G.M. Murphy, M.D., Andre F. Marquand, Ph.D., Meng-Chuan Lai, M.D., Ph.D., Jan K. Buitelaar, M.D., Ph.D., Simon Baron-Cohen, Ph.D., Christian F. Beckmann, Ph.D., the APEX Group, the EU-AIMS LEAP Group |
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| 100 | 1 | |a Floris, Dorothea L. |e VerfasserIn |0 (DE-588)1239279418 |0 (DE-627)1767356994 |4 aut | |
| 245 | 1 | 4 | |a The Link Between Autism and Sex-Related Neuroanatomy, and Associated Cognition and Gene Expression |c Dorothea L. Floris, Ph.D., Han Peng, Ph.D., Varun Warrier, Ph.D., Michael V. Lombardo, Ph.D., Charlotte M. Pretzsch, Ph.D., Clara Moreau, Ph.D., Alex Tsompanidis, M.D., Ph.D., Weikang Gong, Ph.D., Maarten Mennes, Ph.D., Alberto Llera, Ph.D., Daan van Rooij, Ph.D., Marianne Oldehinkel, Ph.D., Natalie J. Forde, Ph.D., Tony Charman, Ph.D., Julian Tillmann, Ph.D., Tobias Banaschewski, M.D., Ph.D., Carolin Moessnang, Ph.D., Sarah Durston, Ph.D., Rosemary J. Holt, Ph.D., Christine Ecker, Ph.D., Flavio Dell’Acqua, Ph.D., Eva Loth, Ph.D., Thomas Bourgeron, Ph.D., Declan G.M. Murphy, M.D., Andre F. Marquand, Ph.D., Meng-Chuan Lai, M.D., Ph.D., Jan K. Buitelaar, M.D., Ph.D., Simon Baron-Cohen, Ph.D., Christian F. Beckmann, Ph.D., the APEX Group, the EU-AIMS LEAP Group |
| 264 | 1 | |c January 2023 | |
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| 300 | |a 15 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
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| 500 | |a Online veröffentlicht: 23. November 2022 | ||
| 500 | |a Gesehen am 18.07.2024 | ||
| 520 | |a Objective: - The male preponderance in prevalence of autism is among the most pronounced sex ratios across neurodevelopmental conditions. The authors sought to elucidate the relationship between autism and typical sex-differential neuroanatomy, cognition, and related gene expression. - Methods: - Using a novel deep learning framework trained to predict biological sex based on T1-weighted structural brain images, the authors compared sex prediction model performance across neurotypical and autistic males and females. Multiple large-scale data sets comprising T1-weighted MRI data were employed at four stages of the analysis pipeline: 1) pretraining, with the UK Biobank sample (>10,000 individuals); 2) transfer learning and validation, with the ABIDE data sets (1,412 individuals, 5-56 years of age); 3) test and discovery, with the EU-AIMS/AIMS-2-TRIALS LEAP data set (681 individuals, 6-30 years of age); and 4) specificity, with the NeuroIMAGE and ADHD200 data sets (887 individuals, 7-26 years of age). - Results: - Across both ABIDE and LEAP, features positively predictive of neurotypical males were on average significantly more predictive of autistic males (ABIDE: Cohen’s d=0.48; LEAP: Cohen’s d=1.34). Features positively predictive of neurotypical females were on average significantly less predictive of autistic females (ABIDE: Cohen’s d=1.25; LEAP: Cohen’s d=1.29). These differences in sex prediction accuracy in autism were not observed in individuals with ADHD. In autistic females, the male-shifted neurophenotype was further associated with poorer social sensitivity and emotional face processing while also associated with gene expression patterns of midgestational cell types. - Conclusions: - The results demonstrate an increased resemblance in both autistic male and female individuals’ neuroanatomy with male-characteristic patterns associated with typically sex-differential social cognitive features and related gene expression patterns. The findings hold promise for future research aimed at refining the quest for biological mechanisms underpinning the etiology of autism. | ||
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| 700 | 1 | |a Pretzsch, Charlotte M. |e VerfasserIn |4 aut | |
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