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The Link Between Autism and Sex-Related Neuroanatomy, and Associated Cognition and Gene Expression
- Source :
- Floris, Dorothea L; Peng, Han; Warrier, Varun; Lombardo, Michael V; Pretzsch, Charlotte M; Moreau, Clara; Tsompanidis, Alex; Gong, Weikang; Mennes, Maarten; Llera, Alberto; van Rooij, Daan; Oldehinkel, Marianne; Forde, Natalie J; Charman, Tony; Tillmann, Julian; Banaschewski, Tobias; Moessnang, Carolin; Durston, Sarah; Holt, Rosemary J; Ecker, Christine; Dell’Acqua, Flavio; Loth, Eva; Bourgeron, Thomas; Murphy, Declan G M; Marquand, Andre F; Lai, Meng-Chuan; Buitelaar, Jan K; Baron-Cohen, Simon; Beckmann, Christian F; et al (2023). The Link Between Autism and Sex-Related Neuroanatomy, and Associated Cognition and Gene Expression. American Journal of Psychiatry, 180(1):50-64.
- Publication Year :
- 2023
-
Abstract
- 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 resear
Details
- Database :
- OAIster
- Journal :
- Floris, Dorothea L; Peng, Han; Warrier, Varun; Lombardo, Michael V; Pretzsch, Charlotte M; Moreau, Clara; Tsompanidis, Alex; Gong, Weikang; Mennes, Maarten; Llera, Alberto; van Rooij, Daan; Oldehinkel, Marianne; Forde, Natalie J; Charman, Tony; Tillmann, Julian; Banaschewski, Tobias; Moessnang, Carolin; Durston, Sarah; Holt, Rosemary J; Ecker, Christine; Dell’Acqua, Flavio; Loth, Eva; Bourgeron, Thomas; Murphy, Declan G M; Marquand, Andre F; Lai, Meng-Chuan; Buitelaar, Jan K; Baron-Cohen, Simon; Beckmann, Christian F; et al (2023). The Link Between Autism and Sex-Related Neuroanatomy, and Associated Cognition and Gene Expression. American Journal of Psychiatry, 180(1):50-64.
- Notes :
- application/pdf, info:doi/10.5167/uzh-255769, English, English
- Publication Type :
- Electronic Resource
- Accession number :
- edsoai.on1443057661
- Document Type :
- Electronic Resource