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 et/ou numérique Auteurs : Veronica MANDELLI, Auteur ; Ines SEVERINO, Auteur ; Lisa 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 et/ou numérique] / Veronica MANDELLI, Auteur ; Ines SEVERINO, Auteur ; Lisa 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

Abnormalities on the Neurological Examination and EEG in Young Children with Pervasive Developmental Disorders / Natacha AKSHOOMOFF in Journal of Autism and Developmental Disorders, 37-5 (May 2007)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 37-5 (May 2007) . - p.887-893 Titre : Abnormalities on the Neurological Examination and EEG in Young Children with Pervasive Developmental Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Natacha AKSHOOMOFF, Auteur ; Nikdokht FARID, Auteur ; Eric COURCHESNE, Auteur ; Richard HAAS, Auteur Année de publication : 2007 Article en page(s) : p.887-893 Langues : Anglais (eng) Mots-clés : Neurology Seizures EEG Index. décimale : PER Périodiques Résumé : This study examined the nature and frequency of neurological and EEG abnormalities in 60 young children (ages 2–6 years) with pervasive developmental disorders. A number of standard neurological functions could not be adequately assessed due to the young age of the children and/or limited comprehension and cooperation. The most common neurological deficits were hyporeflexia, stereotypies, and hypotonia. EEG abnormalities were identified in 32% of the children while only two children were known to have clinical seizures. The frequency of cases with hypotonia or hyporeflexia was more common than in older children with this diagnosis. Results also indicate that EEG abnormalities are common in this young population but clinical seizures are rare, confirming other studies. En ligne : http://dx.doi.org/10.1007/s10803-006-0216-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=140 [article] Abnormalities on the Neurological Examination and EEG in Young Children with Pervasive Developmental Disorders [Texte imprimé et/ou numérique] / Natacha AKSHOOMOFF, Auteur ; Nikdokht FARID, Auteur ; Eric COURCHESNE, Auteur ; Richard HAAS, Auteur . - 2007 . - p.887-893. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 37-5 (May 2007) . - p.887-893 Mots-clés : Neurology Seizures EEG Index. décimale : PER Périodiques Résumé : This study examined the nature and frequency of neurological and EEG abnormalities in 60 young children (ages 2–6 years) with pervasive developmental disorders. A number of standard neurological functions could not be adequately assessed due to the young age of the children and/or limited comprehension and cooperation. The most common neurological deficits were hyporeflexia, stereotypies, and hypotonia. EEG abnormalities were identified in 32% of the children while only two children were known to have clinical seizures. The frequency of cases with hypotonia or hyporeflexia was more common than in older children with this diagnosis. Results also indicate that EEG abnormalities are common in this young population but clinical seizures are rare, confirming other studies. En ligne : http://dx.doi.org/10.1007/s10803-006-0216-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=140

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 et/ou numérique 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 et/ou numérique] / 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

L'autisme : un trouble neurodéveloppemental / Eric COURCHESNE in Bulletin Scientifique de l'arapi (Le), 30 (décembre 2012)

Public ISBD [article]  inBulletin Scientifique de l'arapi (Le) > 30 (décembre 2012) . - p.74-76 Titre : L'autisme : un trouble neurodéveloppemental Type de document : Texte imprimé et/ou numérique Auteurs : Eric COURCHESNE, Auteur Année de publication : 2012 Article en page(s) : p.74-76 Langues : Français (fre) Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=187 [article] L'autisme : un trouble neurodéveloppemental [Texte imprimé et/ou numérique] / Eric COURCHESNE, Auteur . - 2012 . - p.74-76. Langues : Français (fre) in Bulletin Scientifique de l'arapi (Le) > 30 (décembre 2012) . - p.74-76 Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=187

L'autisme, un trouble progressif et multi-stade du développent foetal / Eric COURCHESNE in Sésame, 214 (Juin 2020)

Public ISBD [article]  inSésame > 214 (Juin 2020) . - p.26 Titre : L'autisme, un trouble progressif et multi-stade du développent foetal Type de document : Texte imprimé et/ou numérique Auteurs : Eric COURCHESNE, Auteur Année de publication : 2020 Article en page(s) : p.26 Langues : Français (fre) Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=425 [article] L'autisme, un trouble progressif et multi-stade du développent foetal [Texte imprimé et/ou numérique] / Eric COURCHESNE, Auteur . - 2020 . - p.26. Langues : Français (fre) in Sésame > 214 (Juin 2020) . - p.26 Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=425

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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Examination of the impact of the Get SET Early program on equitable access to care within the screen-evaluate-treat chain in toddlers with autism spectrum disorder / Christie PHAM in Autism, 27-6 (August 2023)  

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Family-based association testing of OCD-associated SNPs of SLC1A1 in an autism sample / Camille W. BRUNE in Autism Research, 1-2 (April 2008)  

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From Toddlers to Adults: The Changing Landscape of the Brain in Autism / Eric COURCHESNE

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Identifying prognostic markers in autism spectrum disorder using eye tracking / Elizabeth C. BACON in Autism, 24-3 (April 2020)  

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A neurophysiological view of autism / Eric COURCHESNE

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Offering to Share: How to Put Heads Together in Autism Neuroimaging / Matthew K. BELMONTE in Journal of Autism and Developmental Disorders, 38-1 (January 2008)  

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Rethinking the idea of late autism spectrum disorder onset / Elizabeth C. BACON in Development and Psychopathology, 30-2 (May 2018)  

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