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<p>We explore neurodevelopmental heterogeneity in Autism Spectrum Disorder (ASD) through normative modeling of cross-cultural cohorts. By leveraging large-scale datasets from Autism Brain Imaging Data Exchange (ABIDE) and China Autism Brain Imaging Consortium (CABIC), our model identifies two ASD subgroups with distinct brain morphological abnormalities: subgroup “L” is characterized by generally smaller brain region volumes and higher rates of abnormality, while subgroup “H” exhibits larger volumes with less pronounced deviations in specific areas. Key areas, such as the isthmus cingulate and transverse temporal gyrus, were identified as critical for subgroup differentiation and ASD trait correlations. In subgroup H, the regional volume of the isthmus cingulate cortex showed a direct correlation with individuals’ autistic mannerisms, potentially corresponding to its slower post-peak volumetric declines during development. These findings offer insights into the biological mechanisms underlying ASD and support the advancement of subgroup-driven precision clinical practices.</p>

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Profiling brain morphology for autism spectrum disorder with two cross-culture large-scale consortia

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年8月5日

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  • Xue-Ru Fan,
  • Ye He,
  • Yin-Shan Wang,
  • Lei Li,
  • Chris Adamson,
  • Sophie Adler,
  • Aaron F. Alexander-Bloch,
  • Evdokia Anagnostou,
  • Kevin M. Anderson,
  • Ariosky Areces-Gonzalez,
  • Duncan E. Astle,
  • Bonnie Auyeung,
  • Muhammad Ayub,
  • Jong Bin Bae,
  • Gareth Ball,
  • Simon Baron-Cohen,
  • Richard Beare,
  • Saashi A. Bedford,
  • Vivek Benegal,
  • Richard A. I. Bethlehem,
  • Frauke Beyer,
  • John Blangero,
  • Manuel Blesa Cábez,
  • James P. Boardman,
  • Matthew Borzage,
  • Jorge F. Bosch-Bayard,
  • Niall Bourke,
  • Edward T. Bullmore,
  • Vince D. Calhoun,
  • Mallar M. Chakravarty,
  • Christina Chen,
  • Casey Chertavian,
  • Gaël Chetelat,
  • Yap S. Chong,
  • Aiden Corvin,
  • Manuela Costantino,
  • Eric Courchesne,
  • Fabrice Crivello,
  • Vanessa L. Cropley,
  • Jennifer Crosbie,
  • Nicolas Crossley,
  • Marion Delarue,
  • Richard Delorme,
  • Sylvane Desrivieres,
  • Gabriel Devenyi,
  • Maria A. Di Biase,
  • Ray Dolan,
  • Kirsten A. Donald,
  • Gary Donohoe,
  • Lena Dorfschmidt,
  • Katharine Dunlop,
  • Anthony D. Edwards,
  • Jed T. Elison,
  • Cameron T. Ellis,
  • Jeremy A. Elman,
  • Lisa Eyler,
  • Damien A. Fair,
  • Paul C. Fletcher,
  • Peter Fonagy,
  • Carol E. Franz,
  • Lidice Galan-Garcia,
  • Ali Gholipour,
  • Jay Giedd,
  • John H. Gilmore,
  • David C. Glahn,
  • Ian M. Goodyer,
  • P. E. Grant,
  • Nynke A. Groenewold,
  • Shreya Gudapati,
  • Faith M. Gunning,
  • Raquel E. Gur,
  • Ruben C. Gur,
  • Christopher F. Hammill,
  • Oskar Hansson,
  • Trey Hedden,
  • Andreas Heinz,
  • Richard N. Henson,
  • Katja Heuer,
  • Jacqueline Hoare,
  • Bharath Holla,
  • Avram J. Holmes,
  • Hao Huang,
  • Jonathan Ipser,
  • Clifford R. Jack Jr,
  • Andrea P. Jackowski,
  • Tianye Jia,
  • David T. Jones,
  • Peter B. Jones,
  • Rene S. Kahn,
  • Hasse Karlsson,
  • Linnea Karlsson,
  • Ryuta Kawashima,
  • Elizabeth A. Kelley,
  • Silke Kern,
  • Ki-Woong Kim,
  • Manfred G. Kitzbichler,
  • William S. Kremen,
  • François Lalonde,
  • Brigitte Landeau,
  • Jason Lerch,
  • John D. Lewis,
  • Jiao Li,
  • Wei Liao,
  • Conor Liston,
  • Michael V. Lombardo,
  • Jinglei Lv,
  • Travis T. Mallard,
  • Machteld Marcelis,
  • Samuel R. Mathias,
  • Bernard Mazoyer,
  • Philip McGuire,
  • Michael J. Meaney,
  • Andrea Mechelli,
  • Bratislav Misic,
  • Sarah E. Morgan,
  • David Mothersill,
  • Cynthia Ortinau,
  • Rik Ossenkoppele,
  • Minhui Ouyang,
  • Lena Palaniyappan,
  • Leo Paly,
  • Pedro M. Pan,
  • Christos Pantelis,
  • Min Tae M. Park,
  • Tomas Paus,
  • Zdenka Pausova,
  • Deirel Paz-Linares,
  • Alexa Pichet Binette,
  • Karen Pierce,
  • Xing Qian,
  • Anqi Qiu,
  • Armin Raznahan,
  • Timothy Rittman,
  • Amanda Rodrigue,
  • Caitlin K. Rollins,
  • Rafael Romero-Garcia,
  • Lisa Ronan,
  • Monica D. Rosenberg,
  • David H. Rowitch,
  • Giovanni A. Salum,
  • Theodore D. Satterthwaite,
  • H. Lina Schaare,
  • Jenna Schabdach,
  • Russell J. Schachar,
  • Michael Schöll,
  • Aaron P. Schultz,
  • Jakob Seidlitz,
  • David Sharp,
  • Russell T. Shinohara,
  • Ingmar Skoog,
  • Christopher D. Smyser,
  • Reisa A. Sperling,
  • Dan J. Stein,
  • Aleks Stolicyn,
  • John Suckling,
  • Gemma Sullivan,
  • Benjamin Thyreau,
  • Roberto Toro,
  • Nicolas Traut,
  • Kamen A. Tsvetanov,
  • Nicholas B. Turk-Browne,
  • Jetro J. Tuulari,
  • Christophe Tzourio,
  • Étienne Vachon-Presseau,
  • Mitchell J. Valdes-Sosa,
  • Pedro A. Valdes-Sosa,
  • Sofie L. Valk,
  • Therese van Amelsvoort,
  • Simon N. Vandekar,
  • Lana Vasung,
  • Petra E. Vértes,
  • Lindsay W. Victoria,
  • Sylvia Villeneuve,
  • Arno Villringer,
  • Jacob W. Vogel,
  • Konrad Wagstyl,
  • Yin-Shan Wang,
  • Simon K. Warfield,
  • Varun Warrier,
  • Eric Westman,
  • Margaret L. Westwater,
  • Heather C. Whalley,
  • Simon R. White,
  • A. Veronica Witte,
  • Ning Yang,
  • B. T. Thomas Yeo,
  • Hyuk Jin Yun,
  • Andrew Zalesky,
  • Heather J. Zar,
  • Anna Zettergren,
  • Juan H. Zhou,
  • Hisham Ziauddeen,
  • Dabriel Zimmerman,
  • Andre Zugman,
  • Xi-Nian Zuo,
  • Miaoshui Bai,
  • Jinhua Cai,
  • Kelong Cai,
  • Doudou Cao,
  • Xuan Cao,
  • Aiguo Chen,
  • Huafu Chen,
  • Jie Chen,
  • Xujun Duan,
  • Xue-Ru Fan,
  • Peng Gao,
  • Wenjing Gao,
  • DongZhi He,
  • Feiyong Jia,
  • Haoxiang Jiang,
  • Xi Jiang,
  • Jin Jing,
  • Lei Li,
  • Shijun Li,
  • Tingyu Li,
  • Xiuhong Li,
  • Lizi Lin,
  • Yingqiang Liu,
  • Zhimei Liu,
  • Fanchao Meng,
  • Litong Ni,
  • Ning Pan,
  • Qi Qi,
  • Bin Qin,
  • Xiaolong Shan,
  • Xiaojing Shou,
  • Jia Wang,
  • Longlun Wang,
  • Miaoyan Wang,
  • Wei Wang,
  • Xin Wang,
  • Lijie Wu,
  • Dandan Xu,
  • Yin Xu,
  • Yang Xue,
  • Ting Yang,
  • Xuntao Yin,
  • Rong Zhang,
  • Yun Zhang,
  • Xi-Nian Zuo,
  • Xujun Duan,
  • Xi-Nian Zuo

摘要

We explore neurodevelopmental heterogeneity in Autism Spectrum Disorder (ASD) through normative modeling of cross-cultural cohorts. By leveraging large-scale datasets from Autism Brain Imaging Data Exchange (ABIDE) and China Autism Brain Imaging Consortium (CABIC), our model identifies two ASD subgroups with distinct brain morphological abnormalities: subgroup “L” is characterized by generally smaller brain region volumes and higher rates of abnormality, while subgroup “H” exhibits larger volumes with less pronounced deviations in specific areas. Key areas, such as the isthmus cingulate and transverse temporal gyrus, were identified as critical for subgroup differentiation and ASD trait correlations. In subgroup H, the regional volume of the isthmus cingulate cortex showed a direct correlation with individuals’ autistic mannerisms, potentially corresponding to its slower post-peak volumetric declines during development. These findings offer insights into the biological mechanisms underlying ASD and support the advancement of subgroup-driven precision clinical practices.