Disruption of an Evolutionarily Novel Synaptic Expression Pattern in Autism

Liu, Xiling
Han, Dingding
Somel, Mehmet
Jiang, Xi
Hui, Haiyang
Guijarro, Patricia
Zhang, Ning
Mitchell, Amanda
Halene, Tobias
Ely, John J.
Sherwood, Chet C.
Hof, Patrick R.
Qiu, Zilong
Paeaebo, Svante
Akbarian, Schahram
Khaitovich, Philipp
Cognitive defects in autism spectrum disorder (ASD) include socialization and communication: key behavioral capacities that separate humans from other species. Here, we analyze gene expression in the prefrontal cortex of 63 autism patients and control individuals, as well as 62 chimpanzees and macaques, from natal to adult age. We show that among all aberrant expression changes seen in ASD brains, a single aberrant expression pattern overrepresented in genes involved synaptic-related pathways is enriched in nucleotide variants linked to autism. Furthermore, only this pattern contains an excess of developmental expression features unique to humans, thus resulting in the disruption of human-specific developmental programs in autism. Several members of the early growth response (EGR) transcription factor family can be implicated in regulation of this aberrant developmental change. Our study draws a connection between the genetic risk architecture of autism and molecular features of cortical development unique to humans.


Khalaji, Erfan; Yesilada Yilmaz, Yeliz; Eraslan, Sukru; Computer Engineering (2021-7-14)
Autism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental disorder that causes social, communication and behavioral challenges with different severity levels. Studies report a considerable increase in ASD prevalence during the past two decades, and clinical psychologists face difficulties identifying individuals with ASD. Researchers have been using different techniques such as eye-tracking to help address ASD diagnosis. A previous study shows that training a logistic regression model with eye-tr...
Odabaş Öğe, Melis; Çakır, Murat Perit; Department of Cognitive Sciences (2023-1-26)
Due to its complexity, Autism Spectrum Disorder provides a wide range of opportunities for academic research, particularly in the area of social cognition. The purpose of this study is to compare the repair strategies used by adults with High Functioning Autism Spectrum Disorder (HFASD) and healthy individuals with similar age-educational status to deal with communication breakdown situations. For this purpose, a discourse corpus was compiled by analyzing video recordings of individuals with HFASD and those...
Combining Trending Scan Paths with Arousal to Model Visual Behaviour on the Web: A Case Study of Neurotypical People vs People with Autism
Matthews, Oludamilare; Eraslan, Sukru; Yaneva, Victoria; Davies, Alan; Yesilada, Yeliz; Vigo, Markel; Harper, Simon (2019-01-01)
People with autism often exhibit different visual behaviours from neurotypical users. To explore how these differences are exhibited on the Web, we model visual behaviour by combining pupillary response, which is an unobtrusive measure of physiological arousal, with eye-tracking scan paths that indicate visual attention. We evaluated our approach with two populations: 19 neurotypical users and 19 users with autism. We observe differences in their visual behaviours as, in certain instances, individuals with ...
Variable expression of the autism broader phenotype: Findings from extended pedigrees
Pickles, A; Starr, E; Kazak Berument, Sibel; Bolton, P; Papanikolaou, K; Bailey, A; Goodman, R; Rutter, M (2000-05-01)
Factors influencing the rate, form, and severity of phenotypic expression among relatives of autistic probands are examined. Family history data on 3095 first- and second-degree relatives and cousins from 149 families with a child with autism and 36 families with a child with Down syndrome are studied. The results provide further evidence of an increased risk among autism relatives for the broadly defined autism phenotype. Of proband characteristics, severity of autism and obstetric optimality were confirme...
Pre-linguistic autism diagnostic observation schedule adapted for older individuals with severe to profound mental retardation: A pilot study
Kazak Berument, Sibel; Pickles, A; Tomlins, M; Papanikolauou, K; Lord, C; Rutter, M (Springer Science and Business Media LLC, 2005-12-01)
The Autism Diagnostic Observational Schedule (ADOS) is a semi-structured observational scale developed to assess social interaction, communication and play in individuals who are suspected to have autism. Since the ADOS is not suitable to be used with severely or profoundly mentally retarded adolescents and adults with very limited language skills, materials and some of the tasks of the PL-ADOS and the original ADOS (the former versions of the current ADOS) were adapted. Results indicated that almost all of...
Citation Formats
X. Liu et al., “Disruption of an Evolutionarily Novel Synaptic Expression Pattern in Autism,” PLOS BIOLOGY, pp. 0–0, 2016, Accessed: 00, 2020. [Online]. Available: https://hdl.handle.net/11511/46843.