Scholarlink

<p>It is often assumed that phenotypic heterogeneity in autism reflects underlying pathobiological variation. However, direct evidence supporting this link is lacking. Leveraging cross-species functional neuroimaging, we show that brain dysconnectivity patterns in autism can be parsed into biologically dissociable subtypes. Specifically, we found that functional magnetic resonance imaging (fMRI) connectivity alterations in 20 distinct genetic mouse models of autism cluster into hypoconnectivity-dominant and hyperconnectivity-dominant subtypes. These subtypes are linked to distinct biological pathways, with hypoconnectivity being associated with synaptic dysfunction and hyperconnectivity reflecting transcriptional and immune-related alterations. Here we identified analogous hypoconnectivity and hyperconnectivity subtypes in a multicenter human fMRI dataset of <i>n</i> = 940 individuals with idiopathic autism and <i>n</i> = 1,036 neurotypical individuals. The human autism subtypes are highly replicable, are associated with distinct functional network architectures and behavioral profiles and recapitulate the synaptic and immune-related pathways identified in the rodent dataset. Our work provides a new empirical framework for targeted subtyping of the autism spectrum.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Autism subtypes identified using cross-species functional connectivity analyses

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年5月15日

查看全文
  • Marco Pagani,
  • Valerio Zerbi,
  • Silvia Gini,
  • Filomena Grazia Alvino,
  • Abhishek Banerjee,
  • Andrea Barberis,
  • M. Albert Basson,
  • Yuri Bozzi,
  • Alberto Galbusera,
  • Jacob Ellegood,
  • Michela Fagiolini,
  • Jason P. Lerch,
  • Michela Matteoli,
  • Caterina Montani,
  • Davide Pozzi,
  • Giovanni Provenzano,
  • Maria Luisa Scattoni,
  • Nicole Wenderoth,
  • Ting Xu,
  • Michael V. Lombardo,
  • Michael P. Milham,
  • Adriana Di Martino,
  • Alessandro Gozzi

摘要

It is often assumed that phenotypic heterogeneity in autism reflects underlying pathobiological variation. However, direct evidence supporting this link is lacking. Leveraging cross-species functional neuroimaging, we show that brain dysconnectivity patterns in autism can be parsed into biologically dissociable subtypes. Specifically, we found that functional magnetic resonance imaging (fMRI) connectivity alterations in 20 distinct genetic mouse models of autism cluster into hypoconnectivity-dominant and hyperconnectivity-dominant subtypes. These subtypes are linked to distinct biological pathways, with hypoconnectivity being associated with synaptic dysfunction and hyperconnectivity reflecting transcriptional and immune-related alterations. Here we identified analogous hypoconnectivity and hyperconnectivity subtypes in a multicenter human fMRI dataset of n = 940 individuals with idiopathic autism and n = 1,036 neurotypical individuals. The human autism subtypes are highly replicable, are associated with distinct functional network architectures and behavioral profiles and recapitulate the synaptic and immune-related pathways identified in the rodent dataset. Our work provides a new empirical framework for targeted subtyping of the autism spectrum.