Dissecting the phenotypic heterogeneity in sensory features in autism spectrum disorder: a factor mixture modelling approach / Julian TILLMANN in Molecular Autism, 11 (2020)  

Public ISBD [article]  inMolecular Autism > 11 (2020) . - 67 p. Titre : Dissecting the phenotypic heterogeneity in sensory features in autism spectrum disorder: a factor mixture modelling approach Type de document : texte imprimé Auteurs : Julian TILLMANN, Auteur ; Mirko ULJAREVIĆ, Auteur ; Daisy CRAWLEY, Auteur ; Guillaume DUMAS, Auteur ; Eva LOTH, Auteur ; Declan G.M. MURPHY, Auteur ; Jan K. BUITELAAR, Auteur ; Tony CHARMAN, Auteur Article en page(s) : 67 p. Langues : Anglais (eng) Mots-clés : Anxiety  Autism spectrum disorder  Heterogeneity  Phenotype  Sensory features  Social-communication symptoms  of/and/or speaker for Takeda/Shire, Roche, Medice, Servier and Angelini. He is not  an employee of any of these companies, and not a stock shareholder of any of these  companies. He has no other financial or material support, including expert  testimony, patents and royalties. Julian Tillmann is a consultant to F. Hoffmann-La  Roche. Index. décimale : PER Périodiques Résumé : BACKGROUND: Heterogeneity in the phenotypic presentation of autism spectrum disorder (ASD) is apparent in the profile and the severity of sensory features. Here, we applied factor mixture modelling (FMM) to test a multidimensional factor model of sensory processing in ASD. We aimed to identify homogeneous sensory subgroups in ASD that differ intrinsically in their severity along continuous factor scores. We also investigated sensory subgroups in relation to clinical variables: sex, age, IQ, social-communication symptoms, restricted and repetitive behaviours, adaptive functioning and symptoms of anxiety and attention-deficit/hyperactivity disorder. METHODS: Three hundred thirty-two children and adults with ASD between the ages of 6 and 30 years with IQs varying between 40 and 148 were included. First, three different confirmatory factor models were fit to the 38 items of the Short Sensory Profile (SSP). Then, latent class models (with two-to-six subgroups) were evaluated. The best performing factor model, the 7-factor structure, was subsequently used in two FMMs that varied in the number of subgroups: a two-subgroup, seven-factor model and a three-subgroup and seven-factor model. RESULTS: The 'three-subgroup/seven-factor' FMM was superior to all other models based on different fit criteria. Identified subgroups differed in sensory severity from severe, moderate to low. Accounting for the potential confounding effects of age and IQ, participants in these sensory subgroups had different levels of social-communicative symptoms, restricted and repetitive behaviours, adaptive functioning skills and symptoms of inattention and anxiety. LIMITATIONS: Results were derived using a single parent-report measure of sensory features, the SSP, which limits the generalisability of findings. CONCLUSION: Sensory features can be best described by three homogeneous sensory subgroups that differ in sensory severity gradients along seven continuous factor scores. Identified sensory subgroups were further differentiated by the severity of core and co-occurring symptoms, and level of adaptive functioning, providing novel evidence on the associated clinical correlates of sensory subgroups. These sensory subgroups provide a platform to further interrogate the neurobiological and genetic correlates of altered sensory processing in ASD. En ligne : http://dx.doi.org/10.1186/s13229-020-00367-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=433 [article] Dissecting the phenotypic heterogeneity in sensory features in autism spectrum disorder: a factor mixture modelling approach [texte imprimé] / Julian TILLMANN, Auteur ; Mirko ULJAREVIĆ, Auteur ; Daisy CRAWLEY, Auteur ; Guillaume DUMAS, Auteur ; Eva LOTH, Auteur ; Declan G.M. MURPHY, Auteur ; Jan K. BUITELAAR, Auteur ; Tony CHARMAN, Auteur . - 67 p. Langues : Anglais (eng) in Molecular Autism > 11 (2020) . - 67 p. Mots-clés : Anxiety  Autism spectrum disorder  Heterogeneity  Phenotype  Sensory features  Social-communication symptoms  of/and/or speaker for Takeda/Shire, Roche, Medice, Servier and Angelini. He is not  an employee of any of these companies, and not a stock shareholder of any of these  companies. He has no other financial or material support, including expert  testimony, patents and royalties. Julian Tillmann is a consultant to F. Hoffmann-La  Roche. Index. décimale : PER Périodiques Résumé : BACKGROUND: Heterogeneity in the phenotypic presentation of autism spectrum disorder (ASD) is apparent in the profile and the severity of sensory features. Here, we applied factor mixture modelling (FMM) to test a multidimensional factor model of sensory processing in ASD. We aimed to identify homogeneous sensory subgroups in ASD that differ intrinsically in their severity along continuous factor scores. We also investigated sensory subgroups in relation to clinical variables: sex, age, IQ, social-communication symptoms, restricted and repetitive behaviours, adaptive functioning and symptoms of anxiety and attention-deficit/hyperactivity disorder. METHODS: Three hundred thirty-two children and adults with ASD between the ages of 6 and 30 years with IQs varying between 40 and 148 were included. First, three different confirmatory factor models were fit to the 38 items of the Short Sensory Profile (SSP). Then, latent class models (with two-to-six subgroups) were evaluated. The best performing factor model, the 7-factor structure, was subsequently used in two FMMs that varied in the number of subgroups: a two-subgroup, seven-factor model and a three-subgroup and seven-factor model. RESULTS: The 'three-subgroup/seven-factor' FMM was superior to all other models based on different fit criteria. Identified subgroups differed in sensory severity from severe, moderate to low. Accounting for the potential confounding effects of age and IQ, participants in these sensory subgroups had different levels of social-communicative symptoms, restricted and repetitive behaviours, adaptive functioning skills and symptoms of inattention and anxiety. LIMITATIONS: Results were derived using a single parent-report measure of sensory features, the SSP, which limits the generalisability of findings. CONCLUSION: Sensory features can be best described by three homogeneous sensory subgroups that differ in sensory severity gradients along seven continuous factor scores. Identified sensory subgroups were further differentiated by the severity of core and co-occurring symptoms, and level of adaptive functioning, providing novel evidence on the associated clinical correlates of sensory subgroups. These sensory subgroups provide a platform to further interrogate the neurobiological and genetic correlates of altered sensory processing in ASD. En ligne : http://dx.doi.org/10.1186/s13229-020-00367-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=433

Electroencéphalographie en psychiatrie / Jean-Arthur MICOULAUD-FRANCHI

Public ISBD in Manuel de psychiatrie / Julien-Daniel GUELFI Titre : Electroencéphalographie en psychiatrie Type de document : texte imprimé Auteurs : Jean-Arthur MICOULAUD-FRANCHI, Auteur ; Guillaume DUMAS, Auteur Année de publication : 2021 Importance : p.174-185 Index. décimale : SCI-E SCI-E - Psychiatrie Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=497 in Manuel de psychiatrie / Julien-Daniel GUELFI Electroencéphalographie en psychiatrie [texte imprimé] / Jean-Arthur MICOULAUD-FRANCHI, Auteur ; Guillaume DUMAS, Auteur . - 2021 . - p.174-185. Index. décimale : SCI-E SCI-E - Psychiatrie Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=497

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Etudier le cerveau en interaction sociale pour agir dans l'autisme / Guillaume DUMAS in Sésame, 212 (Décembre 2019)

Public ISBD [article]  inSésame > 212 (Décembre 2019) . - p.11-12 Titre : Etudier le cerveau en interaction sociale pour agir dans l'autisme Type de document : texte imprimé Auteurs : Guillaume DUMAS, Auteur Année de publication : 2019 Article en page(s) : p.11-12 Langues : Français (fre) Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=416 [article] Etudier le cerveau en interaction sociale pour agir dans l'autisme [texte imprimé] / Guillaume DUMAS, Auteur . - 2019 . - p.11-12. Langues : Français (fre) in Sésame > 212 (Décembre 2019) . - p.11-12 Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=416

Exploring the multidimensional nature of repetitive and restricted behaviors and interests (RRBI) in autism: neuroanatomical correlates and clinical implications / Nicolas TRAUT ; Amandine PEDOUX ; Anna MARUANI ; Anita BEGGIATO ; Monique ELMALEH ; David GERMANAUD ; Anouck AMESTOY ; Myriam Ly LE-MOAL ; Christopher H. CHATHAM ; Lorraine MURTAGH ; Manuel P. BOUVARD ; Marianne ALISSON ; Marion LEBOYER ; Thomas BOURGERON ; Roberto TORO ; Guillaume DUMAS ; Clara MOREAU ; Richard DELORME in Molecular Autism, 14 (2023)  

Public ISBD [article]  inMolecular Autism > 14 (2023) . - 45 p. Titre : Exploring the multidimensional nature of repetitive and restricted behaviors and interests (RRBI) in autism: neuroanatomical correlates and clinical implications Type de document : texte imprimé Auteurs : Nicolas TRAUT, Auteur ; Amandine PEDOUX, Auteur ; Anna MARUANI, Auteur ; Anita BEGGIATO, Auteur ; Monique ELMALEH, Auteur ; David GERMANAUD, Auteur ; Anouck AMESTOY, Auteur ; Myriam Ly LE-MOAL, Auteur ; Christopher H. CHATHAM, Auteur ; Lorraine MURTAGH, Auteur ; Manuel P. BOUVARD, Auteur ; Marianne ALISSON, Auteur ; Marion LEBOYER, Auteur ; Thomas BOURGERON, Auteur ; Roberto TORO, Auteur ; Guillaume DUMAS, Auteur ; Clara MOREAU, Auteur ; Richard DELORME, Auteur Article en page(s) : 45 p. Langues : Anglais (eng) Mots-clés : Humans  *Autistic Disorder/diagnostic imaging  *Autism Spectrum Disorder/diagnosis  Neuroanatomy  Magnetic Resonance Imaging  Principal Component Analysis  Cortico-striatal-thalamo-cortical loop  Phenotype  Rrb Index. décimale : PER Périodiques Résumé : BACKGROUND: Repetitive and restricted behaviors and interests (RRBI) are core symptoms of autism with a complex entity and are commonly categorized into 'motor-driven' and 'cognitively driven'. RRBI symptomatology depends on the individual's clinical environment limiting the understanding of RRBI physiology, particularly their associated neuroanatomical structures. The complex RRBI heterogeneity needs to explore the whole RRBI spectrum by integrating the clinical context [autistic individuals, their relatives and typical developing (TD) individuals]. We hypothesized that different RRBI dimensions would emerge by exploring the whole spectrum of RRBI and that these dimensions are associated with neuroanatomical signatures-involving cortical and subcortical areas. METHOD: A sample of 792 individuals composed of 267 autistic subjects, their 370 first-degree relatives and 155 TD individuals was enrolled in the study. We assessed the whole patterns of RRBI in each individual by using the Repetitive Behavior Scale-Revised and the Yale-Brown Obsessive Compulsive Scale. We estimated brain volumes using MRI scanner for a subsample of the subjects (n=152, 42 ASD, 89 relatives and 13 TD). We first investigated the dimensionality of RRBI by performing a principal component analysis on all items of these scales and included all the sampling population. We then explored the relationship between RRBI-derived factors with brain volumes using linear regression models. RESULTS: We identified 3 main factors (with 30.3% of the RRBI cumulative variance): Factor 1 (FA1, 12.7%) reflected mainly the 'motor-driven' RRBI symptoms; Factor 2 and 3 (respectively, 8.8% and 7.9%) gathered mainly Y-BOCS related items and represented the 'cognitively driven' RRBI symptoms. These three factors were significantly associated with the right/left putamen volumes but with opposite effects: FA1 was negatively associated with an increased volume of the right/left putamen conversely to FA2 and FA3 (all uncorrected p<0.05). FA1 was negatively associated with the left amygdala (uncorrected p<0.05), and FA2 was positively associated with the left parietal structure (uncorrected p=0.001). CONCLUSION: Our results suggested 3 coherent RRBI dimensions involving the putamen commonly and other structures according to the RRBI dimension. The exploration of the putamen's integrative role in RSBI needs to be strengthened in further studies. En ligne : https://dx.doi.org/10.1186/s13229-023-00576-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=518 [article] Exploring the multidimensional nature of repetitive and restricted behaviors and interests (RRBI) in autism: neuroanatomical correlates and clinical implications [texte imprimé] / Nicolas TRAUT, Auteur ; Amandine PEDOUX, Auteur ; Anna MARUANI, Auteur ; Anita BEGGIATO, Auteur ; Monique ELMALEH, Auteur ; David GERMANAUD, Auteur ; Anouck AMESTOY, Auteur ; Myriam Ly LE-MOAL, Auteur ; Christopher H. CHATHAM, Auteur ; Lorraine MURTAGH, Auteur ; Manuel P. BOUVARD, Auteur ; Marianne ALISSON, Auteur ; Marion LEBOYER, Auteur ; Thomas BOURGERON, Auteur ; Roberto TORO, Auteur ; Guillaume DUMAS, Auteur ; Clara MOREAU, Auteur ; Richard DELORME, Auteur . - 45 p. Langues : Anglais (eng) in Molecular Autism > 14 (2023) . - 45 p. Mots-clés : Humans  *Autistic Disorder/diagnostic imaging  *Autism Spectrum Disorder/diagnosis  Neuroanatomy  Magnetic Resonance Imaging  Principal Component Analysis  Cortico-striatal-thalamo-cortical loop  Phenotype  Rrb Index. décimale : PER Périodiques Résumé : BACKGROUND: Repetitive and restricted behaviors and interests (RRBI) are core symptoms of autism with a complex entity and are commonly categorized into 'motor-driven' and 'cognitively driven'. RRBI symptomatology depends on the individual's clinical environment limiting the understanding of RRBI physiology, particularly their associated neuroanatomical structures. The complex RRBI heterogeneity needs to explore the whole RRBI spectrum by integrating the clinical context [autistic individuals, their relatives and typical developing (TD) individuals]. We hypothesized that different RRBI dimensions would emerge by exploring the whole spectrum of RRBI and that these dimensions are associated with neuroanatomical signatures-involving cortical and subcortical areas. METHOD: A sample of 792 individuals composed of 267 autistic subjects, their 370 first-degree relatives and 155 TD individuals was enrolled in the study. We assessed the whole patterns of RRBI in each individual by using the Repetitive Behavior Scale-Revised and the Yale-Brown Obsessive Compulsive Scale. We estimated brain volumes using MRI scanner for a subsample of the subjects (n=152, 42 ASD, 89 relatives and 13 TD). We first investigated the dimensionality of RRBI by performing a principal component analysis on all items of these scales and included all the sampling population. We then explored the relationship between RRBI-derived factors with brain volumes using linear regression models. RESULTS: We identified 3 main factors (with 30.3% of the RRBI cumulative variance): Factor 1 (FA1, 12.7%) reflected mainly the 'motor-driven' RRBI symptoms; Factor 2 and 3 (respectively, 8.8% and 7.9%) gathered mainly Y-BOCS related items and represented the 'cognitively driven' RRBI symptoms. These three factors were significantly associated with the right/left putamen volumes but with opposite effects: FA1 was negatively associated with an increased volume of the right/left putamen conversely to FA2 and FA3 (all uncorrected p<0.05). FA1 was negatively associated with the left amygdala (uncorrected p<0.05), and FA2 was positively associated with the left parietal structure (uncorrected p=0.001). CONCLUSION: Our results suggested 3 coherent RRBI dimensions involving the putamen commonly and other structures according to the RRBI dimension. The exploration of the putamen's integrative role in RSBI needs to be strengthened in further studies. En ligne : https://dx.doi.org/10.1186/s13229-023-00576-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=518

Tackling hypo and hyper sensory processing heterogeneity in autism: From clinical stratification to genetic pathways / Julian TILLMANN ; Freddy CLIQUET ; Frédérique AMSELLEM ; Anna MARUANI ; Claire S. LEBLOND ; Anita BEGGIATO ; David GERMANAUD ; Anouck AMESTOY ; Myriam Ly LE-MOAL ; Daniel UMBRICHT ; Christopher H. CHATHAM ; Lorraine MURTAGH ; Manuel P. BOUVARD ; Marion LEBOYER ; Tony CHARMAN ; Thomas BOURGERON ; Richard DELORME ; Guillaume DUMAS ; EU-AIMS LEAP GROUP in Autism Research, 16-2 (February 2023)  

Public ISBD [article]  inAutism Research > 16-2 (February 2023) . - p.364-378 Titre : Tackling hypo and hyper sensory processing heterogeneity in autism: From clinical stratification to genetic pathways Type de document : texte imprimé Auteurs : Julian TILLMANN, Auteur ; Freddy CLIQUET, Auteur ; Frédérique AMSELLEM, Auteur ; Anna MARUANI, Auteur ; Claire S. LEBLOND, Auteur ; Anita BEGGIATO, Auteur ; David GERMANAUD, Auteur ; Anouck AMESTOY, Auteur ; Myriam Ly LE-MOAL, Auteur ; Daniel UMBRICHT, Auteur ; Christopher H. CHATHAM, Auteur ; Lorraine MURTAGH, Auteur ; Manuel P. BOUVARD, Auteur ; Marion LEBOYER, Auteur ; Tony CHARMAN, Auteur ; Thomas BOURGERON, Auteur ; Richard DELORME, Auteur ; Guillaume DUMAS, Auteur ; EU-AIMS LEAP GROUP, Auteur Article en page(s) : p.364-378 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Abstract As an integral part of autism spectrum symptoms, sensory processing issues including both hypo and hyper sensory sensitivities. These sensory specificities may result from an excitation/inhibition imbalance with a poorly understood of their level of convergence with genetic alterations in GABA-ergic and glutamatergic pathways. In our study, we aimed to characterize the hypo/hyper-sensory profile among autistic individuals. We then explored its link with the burden of deleterious mutations in a subset of individuals with available whole-genome sequencing data. To characterize the hypo/hyper-sensory profile, the differential Short Sensory Profile (dSSP) was defined as a normalized and centralized hypo/hypersensitivity ratio from the Short Sensory Profile (SSP). Including 1136 participants (533 autistic individuals, 210 first-degree relatives, and 267 controls) from two independent study samples (PARIS and LEAP), we observed a statistically significant dSSP mean difference between autistic individuals and controls, driven mostly by a high dSSP variability, with an intermediated profile represented by relatives. Our genetic analysis tended to associate the dSSP and the hyposensitivity with mutations of the GABAergic pathway. The major limitation was the dSSP difficulty to discriminate subjects with a similar quantum of hypo- and hyper-sensory symptoms to those with no such symptoms, resulting both in a similar ratio score of 0. However, the dSSP could be a relevant clinical score, and combined with additional sensory descriptions, genetics and endophenotypic substrates, will improve the exploration of the underlying neurobiological mechanisms of sensory processing differences in autism spectrum. En ligne : https://doi.org/10.1002/aur.2861 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=496 [article] Tackling hypo and hyper sensory processing heterogeneity in autism: From clinical stratification to genetic pathways [texte imprimé] / Julian TILLMANN, Auteur ; Freddy CLIQUET, Auteur ; Frédérique AMSELLEM, Auteur ; Anna MARUANI, Auteur ; Claire S. LEBLOND, Auteur ; Anita BEGGIATO, Auteur ; David GERMANAUD, Auteur ; Anouck AMESTOY, Auteur ; Myriam Ly LE-MOAL, Auteur ; Daniel UMBRICHT, Auteur ; Christopher H. CHATHAM, Auteur ; Lorraine MURTAGH, Auteur ; Manuel P. BOUVARD, Auteur ; Marion LEBOYER, Auteur ; Tony CHARMAN, Auteur ; Thomas BOURGERON, Auteur ; Richard DELORME, Auteur ; Guillaume DUMAS, Auteur ; EU-AIMS LEAP GROUP, Auteur . - p.364-378. Langues : Anglais (eng) in Autism Research > 16-2 (February 2023) . - p.364-378 Index. décimale : PER Périodiques Résumé : Abstract As an integral part of autism spectrum symptoms, sensory processing issues including both hypo and hyper sensory sensitivities. These sensory specificities may result from an excitation/inhibition imbalance with a poorly understood of their level of convergence with genetic alterations in GABA-ergic and glutamatergic pathways. In our study, we aimed to characterize the hypo/hyper-sensory profile among autistic individuals. We then explored its link with the burden of deleterious mutations in a subset of individuals with available whole-genome sequencing data. To characterize the hypo/hyper-sensory profile, the differential Short Sensory Profile (dSSP) was defined as a normalized and centralized hypo/hypersensitivity ratio from the Short Sensory Profile (SSP). Including 1136 participants (533 autistic individuals, 210 first-degree relatives, and 267 controls) from two independent study samples (PARIS and LEAP), we observed a statistically significant dSSP mean difference between autistic individuals and controls, driven mostly by a high dSSP variability, with an intermediated profile represented by relatives. Our genetic analysis tended to associate the dSSP and the hyposensitivity with mutations of the GABAergic pathway. The major limitation was the dSSP difficulty to discriminate subjects with a similar quantum of hypo- and hyper-sensory symptoms to those with no such symptoms, resulting both in a similar ratio score of 0. However, the dSSP could be a relevant clinical score, and combined with additional sensory descriptions, genetics and endophenotypic substrates, will improve the exploration of the underlying neurobiological mechanisms of sensory processing differences in autism spectrum. En ligne : https://doi.org/10.1002/aur.2861 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=496

The EU-AIMS Longitudinal European Autism Project (LEAP): clinical characterisation / Tony CHARMAN in Molecular Autism, 8 (2017)  

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The EU-AIMS Longitudinal European Autism Project (LEAP): design and methodologies to identify and validate stratification biomarkers for autism spectrum disorders / Eva LOTH in Molecular Autism, 8 (2017)  

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Towards robust and replicable sex differences in the intrinsic brain function of autism / Dorothea L. FLORIS in Molecular Autism, 12 (2021)  

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