A 3D approach to understanding heterogeneity in early developing autisms / Veronica MANDELLI in Molecular Autism, 15 (2024)  

Public ISBD [article]  inMolecular Autism > 15 (2024) . - 41p. Titre : A 3D approach to understanding heterogeneity in early developing autisms Type de document : texte imprimé Auteurs : Veronica MANDELLI, Auteur ; Ines SEVERINO, Auteur ; Lisa T. EYLER, Auteur ; Karen PIERCE, Auteur ; Eric COURCHESNE, Auteur ; Michael V. LOMBARDO, Auteur Article en page(s) : 41p. Langues : Anglais (eng) Mots-clés : Humans  Child, Preschool  Autistic Disorder/diagnostic imaging/diagnosis  Female  Male  Child  Phenotype  Imaging, Three-Dimensional  Clustering  Gene expression  Stratification  Subtypes  fMRI  for the Collection in this journal entitled 'Neuroimaging in Autism Spectrum  Disorders'. All other authors have no competing interests to declare. Index. décimale : PER Périodiques Résumé : BACKGROUND: Phenotypic heterogeneity in early language, intellectual, motor, and adaptive functioning (LIMA) features are amongst the most striking features that distinguish different types of autistic individuals. Yet the current diagnostic criteria uses a single label of autism and implicitly emphasizes what individuals have in common as core social-communicative and restricted repetitive behavior difficulties. Subtype labels based on the non-core LIMA features may help to more meaningfully distinguish types of autisms with differing developmental paths and differential underlying biology. METHODS: Unsupervised data-driven subtypes were identified using stability-based relative clustering validation on publicly available Mullen Scales of Early Learning (MSEL) and Vineland Adaptive Behavior Scales (VABS) data (n = 615; age = 24-68 months) from the National Institute of Mental Health Data Archive (NDA). Differential developmental trajectories between subtypes were tested on longitudinal data from NDA and from an independent in-house dataset from UCSD. A subset of the UCSD dataset was also tested for subtype differences in functional and structural neuroimaging phenotypes and relationships with blood gene expression. The current subtyping model was also compared to early language outcome subtypes derived from past work. RESULTS: Two autism subtypes can be identified based on early phenotypic LIMA features. These data-driven subtypes are robust in the population and can be identified in independent data with 98% accuracy. The subtypes can be described as Type I versus Type II autisms differentiated by relatively high versus low scores on LIMA features. These two types of autisms are also distinguished by different developmental trajectories over the first decade of life. Finally, these two types of autisms reveal striking differences in functional and structural neuroimaging phenotypes and their relationships with gene expression and may highlight unique biological mechanisms. LIMITATIONS: Sample sizes for the neuroimaging and gene expression dataset are relatively small and require further independent replication. The current work is also limited to subtyping based on MSEL and VABS phenotypic measures. CONCLUSIONS: This work emphasizes the potential importance of stratifying autism by a Type I versus Type II distinction focused on LIMA features and which may be of high prognostic and biological significance. En ligne : https://dx.doi.org/10.1186/s13229-024-00613-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=538 [article] A 3D approach to understanding heterogeneity in early developing autisms [texte imprimé] / Veronica MANDELLI, Auteur ; Ines SEVERINO, Auteur ; Lisa T. EYLER, Auteur ; Karen PIERCE, Auteur ; Eric COURCHESNE, Auteur ; Michael V. LOMBARDO, Auteur . - 41p. Langues : Anglais (eng) in Molecular Autism > 15 (2024) . - 41p. Mots-clés : Humans  Child, Preschool  Autistic Disorder/diagnostic imaging/diagnosis  Female  Male  Child  Phenotype  Imaging, Three-Dimensional  Clustering  Gene expression  Stratification  Subtypes  fMRI  for the Collection in this journal entitled 'Neuroimaging in Autism Spectrum  Disorders'. All other authors have no competing interests to declare. Index. décimale : PER Périodiques Résumé : BACKGROUND: Phenotypic heterogeneity in early language, intellectual, motor, and adaptive functioning (LIMA) features are amongst the most striking features that distinguish different types of autistic individuals. Yet the current diagnostic criteria uses a single label of autism and implicitly emphasizes what individuals have in common as core social-communicative and restricted repetitive behavior difficulties. Subtype labels based on the non-core LIMA features may help to more meaningfully distinguish types of autisms with differing developmental paths and differential underlying biology. METHODS: Unsupervised data-driven subtypes were identified using stability-based relative clustering validation on publicly available Mullen Scales of Early Learning (MSEL) and Vineland Adaptive Behavior Scales (VABS) data (n = 615; age = 24-68 months) from the National Institute of Mental Health Data Archive (NDA). Differential developmental trajectories between subtypes were tested on longitudinal data from NDA and from an independent in-house dataset from UCSD. A subset of the UCSD dataset was also tested for subtype differences in functional and structural neuroimaging phenotypes and relationships with blood gene expression. The current subtyping model was also compared to early language outcome subtypes derived from past work. RESULTS: Two autism subtypes can be identified based on early phenotypic LIMA features. These data-driven subtypes are robust in the population and can be identified in independent data with 98% accuracy. The subtypes can be described as Type I versus Type II autisms differentiated by relatively high versus low scores on LIMA features. These two types of autisms are also distinguished by different developmental trajectories over the first decade of life. Finally, these two types of autisms reveal striking differences in functional and structural neuroimaging phenotypes and their relationships with gene expression and may highlight unique biological mechanisms. LIMITATIONS: Sample sizes for the neuroimaging and gene expression dataset are relatively small and require further independent replication. The current work is also limited to subtyping based on MSEL and VABS phenotypic measures. CONCLUSIONS: This work emphasizes the potential importance of stratifying autism by a Type I versus Type II distinction focused on LIMA features and which may be of high prognostic and biological significance. En ligne : https://dx.doi.org/10.1186/s13229-024-00613-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=538

Alexithymia in children with and without autism spectrum disorders / Cáit GRIFFIN in Autism Research, 9-7 (July 2016)  

Public ISBD [article]  inAutism Research > 9-7 (July 2016) . - p.773-780 Titre : Alexithymia in children with and without autism spectrum disorders Type de document : texte imprimé Auteurs : Cáit GRIFFIN, Auteur ; Michael V. LOMBARDO, Auteur ; Bonnie AUYEUNG, Auteur Article en page(s) : p.773-780 Langues : Anglais (eng) Mots-clés : autism  alexithymia  parent-report  self-report  autistic traits  children Index. décimale : PER Périodiques Résumé : Alexithymia refers to pronounced difficulty in identifying and describing one's own emotions and is associated with an externally oriented focus of thinking. Alexithymia is known to be much more common in adults with autism spectrum disorders (ASD) compared with the typically developing (TD) adult population. However, we know very little about alexithymia in young children with ASD and advancing our understanding of this topic may be of critical clinical and translational importance. Here, we present the first study to examine alexithymia in children with ASD. We find that alexithymia is substantially elevated in ASD on both self- and parent-report measures. Despite both measures being sensitive to on-average group differentiation, we find no evidence of correlation between such measures, indicating that children and their parents may be using different sources of information. Parent-rated alexithymia is also associated with increasing levels of autistic traits. Discrepancy between self and other alexithymia ratings are also associated with autistic traits, but only in ASD. These results underscore the idea that assessing alexithymia in ASD at younger ages may help identify important subgroups that have particular difficulties in the domain of emotion processing. Autism Res 2016, 9: 773–780. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1569 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=292 [article] Alexithymia in children with and without autism spectrum disorders [texte imprimé] / Cáit GRIFFIN, Auteur ; Michael V. LOMBARDO, Auteur ; Bonnie AUYEUNG, Auteur . - p.773-780. Langues : Anglais (eng) in Autism Research > 9-7 (July 2016) . - p.773-780 Mots-clés : autism  alexithymia  parent-report  self-report  autistic traits  children Index. décimale : PER Périodiques Résumé : Alexithymia refers to pronounced difficulty in identifying and describing one's own emotions and is associated with an externally oriented focus of thinking. Alexithymia is known to be much more common in adults with autism spectrum disorders (ASD) compared with the typically developing (TD) adult population. However, we know very little about alexithymia in young children with ASD and advancing our understanding of this topic may be of critical clinical and translational importance. Here, we present the first study to examine alexithymia in children with ASD. We find that alexithymia is substantially elevated in ASD on both self- and parent-report measures. Despite both measures being sensitive to on-average group differentiation, we find no evidence of correlation between such measures, indicating that children and their parents may be using different sources of information. Parent-rated alexithymia is also associated with increasing levels of autistic traits. Discrepancy between self and other alexithymia ratings are also associated with autistic traits, but only in ASD. These results underscore the idea that assessing alexithymia in ASD at younger ages may help identify important subgroups that have particular difficulties in the domain of emotion processing. Autism Res 2016, 9: 773–780. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1569 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=292

Atypical functional connectivity of temporal cortex with precuneus and visual regions may be an early-age signature of ASD / Teresa H. WEN ; Lauren KUPIS ; Lisa T. EYLER ; Vani TALUJA ; Jaden TROXEL ; Disha GOEL ; Michael V. LOMBARDO ; Karen PIERCE ; Eric COURCHESNE in Molecular Autism, 14 (2023)  

Public ISBD [article]  inMolecular Autism > 14 (2023) . - 11 p. Titre : Atypical functional connectivity of temporal cortex with precuneus and visual regions may be an early-age signature of ASD Type de document : texte imprimé Auteurs : Teresa H. WEN, Auteur ; Lauren KUPIS, Auteur ; Lisa T. EYLER, Auteur ; Vani TALUJA, Auteur ; Jaden TROXEL, Auteur ; Disha GOEL, Auteur ; Michael V. LOMBARDO, Auteur ; Karen PIERCE, Auteur ; Eric COURCHESNE, Auteur Article en page(s) : 11 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND: Social and language abilities are closely intertwined during early typical development. In autism spectrum disorder (ASD), however, deficits in social and language development are early-age core symptoms. We previously reported that superior temporal cortex, a well-established social and language region, shows reduced activation to social affective speech in ASD toddlers; however, the atypical cortical connectivity that accompanies this deviance remains unknown. METHODS: We collected clinical, eye tracking, and resting-state fMRI data from 86 ASD and non-ASD subjects (mean age 2.3+0.7 years). Functional connectivity of left and right superior temporal regions with other cortical regions and correlations between this connectivity and each child's social and language abilities were examined. RESULTS: While there was no group difference in functional connectivity, the connectivity between superior temporal cortex and frontal and parietal regions was significantly correlated with language, communication, and social abilities in non-ASD subjects, but these effects were absent in ASD subjects. Instead, ASD subjects, regardless of different social or nonsocial visual preferences, showed atypical correlations between temporal-visual region connectivity and communication ability (r(49)=0.55, p<0.001) and between temporal-precuneus connectivity and expressive language ability (r(49)=0.58, p<0.001). LIMITATIONS: The distinct connectivity-behavior correlation patterns may be related to different developmental stages in ASD and non-ASD subjects. The use of a prior 2-year-old template for spatial normalization may not be optimal for a few subjects beyond this age range. CONCLUSIONS: Superior temporal cortex is known to have reduced activation to social affective speech in ASD at early ages, and here we find in ASD toddlers that it also has atypical connectivity with visual and precuneus cortices that is correlated with communication and language ability, a pattern not seen in non-ASD toddlers. This atypicality may be an early-age signature of ASD that also explains why the disorder has deviant early language and social development. Given that these atypical connectivity patterns are also present in older individuals with ASD, we conclude these atypical connectivity patterns persist across age and may explain why successful interventions targeting language and social skills at all ages in ASD are so difficult to achieve. En ligne : http://dx.doi.org/10.1186/s13229-023-00543-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=513 [article] Atypical functional connectivity of temporal cortex with precuneus and visual regions may be an early-age signature of ASD [texte imprimé] / Teresa H. WEN, Auteur ; Lauren KUPIS, Auteur ; Lisa T. EYLER, Auteur ; Vani TALUJA, Auteur ; Jaden TROXEL, Auteur ; Disha GOEL, Auteur ; Michael V. LOMBARDO, Auteur ; Karen PIERCE, Auteur ; Eric COURCHESNE, Auteur . - 11 p. Langues : Anglais (eng) in Molecular Autism > 14 (2023) . - 11 p. Index. décimale : PER Périodiques Résumé : BACKGROUND: Social and language abilities are closely intertwined during early typical development. In autism spectrum disorder (ASD), however, deficits in social and language development are early-age core symptoms. We previously reported that superior temporal cortex, a well-established social and language region, shows reduced activation to social affective speech in ASD toddlers; however, the atypical cortical connectivity that accompanies this deviance remains unknown. METHODS: We collected clinical, eye tracking, and resting-state fMRI data from 86 ASD and non-ASD subjects (mean age 2.3+0.7 years). Functional connectivity of left and right superior temporal regions with other cortical regions and correlations between this connectivity and each child's social and language abilities were examined. RESULTS: While there was no group difference in functional connectivity, the connectivity between superior temporal cortex and frontal and parietal regions was significantly correlated with language, communication, and social abilities in non-ASD subjects, but these effects were absent in ASD subjects. Instead, ASD subjects, regardless of different social or nonsocial visual preferences, showed atypical correlations between temporal-visual region connectivity and communication ability (r(49)=0.55, p<0.001) and between temporal-precuneus connectivity and expressive language ability (r(49)=0.58, p<0.001). LIMITATIONS: The distinct connectivity-behavior correlation patterns may be related to different developmental stages in ASD and non-ASD subjects. The use of a prior 2-year-old template for spatial normalization may not be optimal for a few subjects beyond this age range. CONCLUSIONS: Superior temporal cortex is known to have reduced activation to social affective speech in ASD at early ages, and here we find in ASD toddlers that it also has atypical connectivity with visual and precuneus cortices that is correlated with communication and language ability, a pattern not seen in non-ASD toddlers. This atypicality may be an early-age signature of ASD that also explains why the disorder has deviant early language and social development. Given that these atypical connectivity patterns are also present in older individuals with ASD, we conclude these atypical connectivity patterns persist across age and may explain why successful interventions targeting language and social skills at all ages in ASD are so difficult to achieve. En ligne : http://dx.doi.org/10.1186/s13229-023-00543-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=513

Brain Routes for Reading in Adults with and without Autism: EMEG Evidence / Rachel L. MOSELEY in Journal of Autism and Developmental Disorders, 44-1 (January 2014)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 44-1 (January 2014) . - p.137-153 Titre : Brain Routes for Reading in Adults with and without Autism: EMEG Evidence Type de document : texte imprimé Auteurs : Rachel L. MOSELEY, Auteur ; Friedemann PULVERMULLER, Auteur ; Bettina MOHR, Auteur ; Michael V. LOMBARDO, Auteur ; Simon BARON-COHEN, Auteur ; Yury SHTYROV, Auteur Article en page(s) : p.137-153 Langues : Anglais (eng) Mots-clés : Reading  Dual-route model  Hyperlexia  Semantics  EEG  MEG Index. décimale : PER Périodiques Résumé : Reading utilises at least two neural pathways. The temporal lexical route visually maps whole words to their lexical entries, whilst the nonlexical route decodes words phonologically via parietal cortex. Readers typically employ the lexical route for familiar words, but poor comprehension plus precocity at mechanically ‘sounding out’ words suggests that differences might exist in autism. Combined MEG/EEG recordings of adults with autistic spectrum conditions (ASC) and controls while reading revealed preferential recruitment of temporal areas in controls and additional parietal recruitment in ASC. Furthermore, a lack of differences between semantic word categories was consistent with previous suggestion that people with ASC may lack a ‘default’ lexical-semantic processing mode. These results are discussed with reference to dual-route models of reading. En ligne : http://dx.doi.org/10.1007/s10803-013-1858-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=220 [article] Brain Routes for Reading in Adults with and without Autism: EMEG Evidence [texte imprimé] / Rachel L. MOSELEY, Auteur ; Friedemann PULVERMULLER, Auteur ; Bettina MOHR, Auteur ; Michael V. LOMBARDO, Auteur ; Simon BARON-COHEN, Auteur ; Yury SHTYROV, Auteur . - p.137-153. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 44-1 (January 2014) . - p.137-153 Mots-clés : Reading  Dual-route model  Hyperlexia  Semantics  EEG  MEG Index. décimale : PER Périodiques Résumé : Reading utilises at least two neural pathways. The temporal lexical route visually maps whole words to their lexical entries, whilst the nonlexical route decodes words phonologically via parietal cortex. Readers typically employ the lexical route for familiar words, but poor comprehension plus precocity at mechanically ‘sounding out’ words suggests that differences might exist in autism. Combined MEG/EEG recordings of adults with autistic spectrum conditions (ASC) and controls while reading revealed preferential recruitment of temporal areas in controls and additional parietal recruitment in ASC. Furthermore, a lack of differences between semantic word categories was consistent with previous suggestion that people with ASC may lack a ‘default’ lexical-semantic processing mode. These results are discussed with reference to dual-route models of reading. En ligne : http://dx.doi.org/10.1007/s10803-013-1858-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=220

Commentary: 'Camouflaging' in autistic people - reflection on Fombonne (2020) / Meng-Chuan LAI in Journal of Child Psychology and Psychiatry, 62-8 (August 2021)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 62-8 (August 2021) Titre : Commentary: 'Camouflaging' in autistic people - reflection on Fombonne (2020) Type de document : texte imprimé Auteurs : Meng-Chuan LAI, Auteur ; Laura HULL, Auteur ; William MANDY, Auteur ; Bhismadev CHAKRABARTI, Auteur ; Christine W. NORDAHL, Auteur ; Michael V. LOMBARDO, Auteur ; Stephanie H. AMEIS, Auteur ; Peter SZATMARI, Auteur ; Simon BARON-COHEN, Auteur ; Francesca HAPPE, Auteur ; Lucy A. LIVINGSTON, Auteur Langues : Anglais (eng) Mots-clés : Adaptation, Psychological  Adult  Autistic Disorder  Female  Humans Index. décimale : PER Périodiques Résumé : Fombonne's (2020) editorial is a thought-provoking appraisal of the literature on 'camouflaging', whereby some autistic people mask or compensate for their autistic characteristics as an attempt to fit in and to cope with disabilities under neurotypical social norms. Fombonne (2020) highlights three issues of contention: (a) construct validity and measurement of camouflaging; (b) camouflaging as a reason for late autism diagnosis in adolescence/adulthood; and (c) camouflaging as a feature of the 'female autism phenotype'. Here, we argue that (a) establishing construct validity and measurement of different aspects of camouflaging is warranted; (b) subjective experiences are important for the differential diagnosis of autism in adolescence/adulthood; and (c) camouflaging is not necessarily a feature of autism in female individuals - nevertheless, taking into account sex and gender influences in development is crucial to understand behavioural manifestations of autism. Future research and clinical directions should involve clarification of associated constructs and measurements, demography, mechanisms, impact (including harms and benefits) and tailored support. En ligne : http://dx.doi.org/10.1111/jcpp.13344 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456 [article] Commentary: 'Camouflaging' in autistic people - reflection on Fombonne (2020) [texte imprimé] / Meng-Chuan LAI, Auteur ; Laura HULL, Auteur ; William MANDY, Auteur ; Bhismadev CHAKRABARTI, Auteur ; Christine W. NORDAHL, Auteur ; Michael V. LOMBARDO, Auteur ; Stephanie H. AMEIS, Auteur ; Peter SZATMARI, Auteur ; Simon BARON-COHEN, Auteur ; Francesca HAPPE, Auteur ; Lucy A. LIVINGSTON, Auteur. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 62-8 (August 2021) Mots-clés : Adaptation, Psychological  Adult  Autistic Disorder  Female  Humans Index. décimale : PER Périodiques Résumé : Fombonne's (2020) editorial is a thought-provoking appraisal of the literature on 'camouflaging', whereby some autistic people mask or compensate for their autistic characteristics as an attempt to fit in and to cope with disabilities under neurotypical social norms. Fombonne (2020) highlights three issues of contention: (a) construct validity and measurement of camouflaging; (b) camouflaging as a reason for late autism diagnosis in adolescence/adulthood; and (c) camouflaging as a feature of the 'female autism phenotype'. Here, we argue that (a) establishing construct validity and measurement of different aspects of camouflaging is warranted; (b) subjective experiences are important for the differential diagnosis of autism in adolescence/adulthood; and (c) camouflaging is not necessarily a feature of autism in female individuals - nevertheless, taking into account sex and gender influences in development is crucial to understand behavioural manifestations of autism. Future research and clinical directions should involve clarification of associated constructs and measurements, demography, mechanisms, impact (including harms and benefits) and tailored support. En ligne : http://dx.doi.org/10.1111/jcpp.13344 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456

Effects of oxytocin administration on salivary sex hormone levels in autistic and neurotypical women / Tanya L. PROCYSHYN in Molecular Autism, 11 (2020)  

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Embryonic origin of two ASD subtypes of social symptom severity: the larger the brain cortical organoid size, the more severe the social symptoms / Eric COURCHESNE in Molecular Autism, 15 (2024)  

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Enhanced motor noise in an autism subtype with poor motor skills / Veronica MANDELLI in Molecular Autism, 15 (2024)  

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Hierarchical cortical transcriptome disorganization in autism / Michael V. LOMBARDO in Molecular Autism, 8 (2017)  

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Medical symptoms and conditions in autistic women / Tslil SIMANTOV in Autism, 26-2 (February 2022)  

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Moral Dilemmas Film Task: a study of spontaneous narratives by individuals with autism spectrum conditions / Jennifer L. BARNES in Autism Research, 2-3 (June 2009)  

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Neural self-representation in autistic women and association with 'compensatory camouflaging' / Meng-Chuan LAI in Autism, 23-5 (July 2019)  

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Polygenic risks for joint developmental trajectories of internalizing and externalizing problems: findings from the ALSPAC cohort / Lydia Gabriela SPEYER in Journal of Child Psychology and Psychiatry, 63-8 (August 2022)  

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Prototyping as subtyping strategy for studying heterogeneity in autism / Michael V. LOMBARDO in Autism Research, 14-10 (October 2021)  

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Quantifying and exploring camouflaging in men and women with autism / Meng-Chuan LAI in Autism, 21-6 (August 2017)  

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