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 CHATHAM ; Lorraine MURTAGH ; Manuel 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 et/ou numérique 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 CHATHAM, Auteur ; Lorraine MURTAGH, Auteur ; Manuel 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 et/ou numérique] / 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 CHATHAM, Auteur ; Lorraine MURTAGH, Auteur ; Manuel 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 LEBLOND ; Anita BEGGIATO ; David GERMANAUD ; Anouck AMESTOY ; Myriam LY-LE MOAL ; Daniel UMBRICHT ; Christopher CHATHAM ; Lorraine MURTAGH ; Manuel 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 et/ou numérique Auteurs : Julian TILLMANN, Auteur ; Freddy CLIQUET, Auteur ; Frédérique AMSELLEM, Auteur ; Anna MARUANI, Auteur ; Claire LEBLOND, Auteur ; Anita BEGGIATO, Auteur ; David GERMANAUD, Auteur ; Anouck AMESTOY, Auteur ; Myriam LY-LE MOAL, Auteur ; Daniel UMBRICHT, Auteur ; Christopher CHATHAM, Auteur ; Lorraine MURTAGH, Auteur ; Manuel 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 et/ou numérique] / Julian TILLMANN, Auteur ; Freddy CLIQUET, Auteur ; Frédérique AMSELLEM, Auteur ; Anna MARUANI, Auteur ; Claire LEBLOND, Auteur ; Anita BEGGIATO, Auteur ; David GERMANAUD, Auteur ; Anouck AMESTOY, Auteur ; Myriam LY-LE MOAL, Auteur ; Daniel UMBRICHT, Auteur ; Christopher CHATHAM, Auteur ; Lorraine MURTAGH, Auteur ; Manuel 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

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