Les anomalies neuro-anatomiques reliées aux troubles du spectre de l'autisme / Anita BEGGIATO in Sésame, 194 (Juillet 2015)

Public ISBD [article]  inSésame > 194 (Juillet 2015) . - p.5-6 Titre : Les anomalies neuro-anatomiques reliées aux troubles du spectre de l'autisme Type de document : Texte imprimé et/ou numérique Auteurs : Anita BEGGIATO, Auteur Année de publication : 2015 Article en page(s) : p.5-6 Langues : Français (fre) Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=263 [article] Les anomalies neuro-anatomiques reliées aux troubles du spectre de l'autisme [Texte imprimé et/ou numérique] / Anita BEGGIATO, Auteur . - 2015 . - p.5-6. Langues : Français (fre) in Sésame > 194 (Juillet 2015) . - p.5-6 Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=263

Discriminant value of repetitive behaviors in families with autism spectrum disorder and obsessional compulsive disorder probands / A. LEFEBVRE in Autism Research, 14-11 (November 2021)  

Public ISBD [article]  inAutism Research > 14-11 (November 2021) . - p.2373-2382 Titre : Discriminant value of repetitive behaviors in families with autism spectrum disorder and obsessional compulsive disorder probands Type de document : Texte imprimé et/ou numérique Auteurs : A. LEFEBVRE, Auteur ; A. COHEN, Auteur ; A. MARUANI, Auteur ; Frédérique AMSELLEM, Auteur ; Anita BEGGIATO, Auteur ; Anouck AMESTOY, Auteur ; M. L. MOAL, Auteur ; D. UMBRICHT, Auteur ; Christopher H. CHATHAM, Auteur ; L. MURTAGH, Auteur ; Manuel P. BOUVARD, Auteur ; M. LEBOYER, Auteur ; Thomas BOURGERON, Auteur ; R. DELORME, Auteur Article en page(s) : p.2373-2382 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/complications/genetics  Cognition  Humans  Obsessive-Compulsive Disorder/genetics  habits  heritability  neurodevelopment  phenotype Index. décimale : PER Périodiques Résumé : Repetitive behaviors (RB) represent a wide spectrum of symptoms ranging from sensory-motor stereotypies to complex cognitive rituals, frequently dichotomized as low- and high-order sub-groups of symptoms. Even though these subgroups are considered as phenomenologically distinct in autism spectrum disorder (ASD) and obsessive-compulsive disorder (OCD), brain imaging and genetic studies suggest that they have common mechanisms and pathways. This discrepancy may be explained by the frequent intellectual disability reported in ASD, which blurs the RB expressivity. Given the high heritability of RB, that is, the diversity of symptoms expressed in the relatives are dependent on those expressed in their probands, we hypothesize that if RB expressed in ASD or OCD are two distinct entities, then the RB expressed in relatives will also reflect these two dimensions. We thus conduct a linear discriminant analysis on RB in both the relatives of probands with ASD and OCD and subjects from the general population (n = 1023). The discriminant analysis results in a classification of 81.1% of the controls (p? En ligne : http://dx.doi.org/10.1002/aur.2570 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450 [article] Discriminant value of repetitive behaviors in families with autism spectrum disorder and obsessional compulsive disorder probands [Texte imprimé et/ou numérique] / A. LEFEBVRE, Auteur ; A. COHEN, Auteur ; A. MARUANI, Auteur ; Frédérique AMSELLEM, Auteur ; Anita BEGGIATO, Auteur ; Anouck AMESTOY, Auteur ; M. L. MOAL, Auteur ; D. UMBRICHT, Auteur ; Christopher H. CHATHAM, Auteur ; L. MURTAGH, Auteur ; Manuel P. BOUVARD, Auteur ; M. LEBOYER, Auteur ; Thomas BOURGERON, Auteur ; R. DELORME, Auteur . - p.2373-2382. Langues : Anglais (eng) in Autism Research > 14-11 (November 2021) . - p.2373-2382 Mots-clés : Autism Spectrum Disorder/complications/genetics  Cognition  Humans  Obsessive-Compulsive Disorder/genetics  habits  heritability  neurodevelopment  phenotype Index. décimale : PER Périodiques Résumé : Repetitive behaviors (RB) represent a wide spectrum of symptoms ranging from sensory-motor stereotypies to complex cognitive rituals, frequently dichotomized as low- and high-order sub-groups of symptoms. Even though these subgroups are considered as phenomenologically distinct in autism spectrum disorder (ASD) and obsessive-compulsive disorder (OCD), brain imaging and genetic studies suggest that they have common mechanisms and pathways. This discrepancy may be explained by the frequent intellectual disability reported in ASD, which blurs the RB expressivity. Given the high heritability of RB, that is, the diversity of symptoms expressed in the relatives are dependent on those expressed in their probands, we hypothesize that if RB expressed in ASD or OCD are two distinct entities, then the RB expressed in relatives will also reflect these two dimensions. We thus conduct a linear discriminant analysis on RB in both the relatives of probands with ASD and OCD and subjects from the general population (n = 1023). The discriminant analysis results in a classification of 81.1% of the controls (p? En ligne : http://dx.doi.org/10.1002/aur.2570 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450

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

Gender differences in autism spectrum disorders: Divergence among specific core symptoms / Anita BEGGIATO in Autism Research, 10-4 (April 2017)  

Public ISBD [article]  inAutism Research > 10-4 (April 2017) . - p.680-689 Titre : Gender differences in autism spectrum disorders: Divergence among specific core symptoms Type de document : Texte imprimé et/ou numérique Auteurs : Anita BEGGIATO, Auteur ; Hugo PEYRE, Auteur ; Anna MARUANI, Auteur ; Isabelle SCHEID, Auteur ; Maria RASTAM, Auteur ; Frédérique AMSELLEM, Auteur ; Carina I. GILLBERG, Auteur ; Marion LEBOYER, Auteur ; Thomas BOURGERON, Auteur ; Christopher GILLBERG, Auteur ; Richard DELORME, Auteur Article en page(s) : p.680-689 Langues : Anglais (eng) Mots-clés : autism spectrum disorders  sex  gender  autism diagnosis interview-revised Index. décimale : PER Périodiques Résumé : Community-based studies have consistently shown a sex ratio heavily skewed towards males in autism spectrum disorders (ASD). The factors underlying this predominance of males are largely unknown, but the way girls score on standardized categorical diagnostic tools might account for the underrecognition of ASD in girls. Despite the existence of different norms for boys and girls with ASD on several major screening tests, the algorithm of the Autism Diagnosis Interview-Revised (ADI-R) has not been reformulated. The aim of our study was to investigate which ADI-R items discriminate between males and females, and to evaluate their weighting in the final diagnosis of autism. We then conducted discriminant analysis (DA) on a sample of 594 probands including 129 females with ASD, recruited by the Paris Autism Research International Sibpair (PARIS) Study. A replication analysis was run on an independent sample of 1716 probands including 338 females with ASD, recruited through the Autism Genetics Resource Exchange (AGRE) program. Entering the raw scores for all ADI-R items as independent variables, the DA correctly classified 78.9% of males and 72.9% of females (P? En ligne : http://dx.doi.org/10.1002/aur.1715 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=307 [article] Gender differences in autism spectrum disorders: Divergence among specific core symptoms [Texte imprimé et/ou numérique] / Anita BEGGIATO, Auteur ; Hugo PEYRE, Auteur ; Anna MARUANI, Auteur ; Isabelle SCHEID, Auteur ; Maria RASTAM, Auteur ; Frédérique AMSELLEM, Auteur ; Carina I. GILLBERG, Auteur ; Marion LEBOYER, Auteur ; Thomas BOURGERON, Auteur ; Christopher GILLBERG, Auteur ; Richard DELORME, Auteur . - p.680-689. Langues : Anglais (eng) in Autism Research > 10-4 (April 2017) . - p.680-689 Mots-clés : autism spectrum disorders  sex  gender  autism diagnosis interview-revised Index. décimale : PER Périodiques Résumé : Community-based studies have consistently shown a sex ratio heavily skewed towards males in autism spectrum disorders (ASD). The factors underlying this predominance of males are largely unknown, but the way girls score on standardized categorical diagnostic tools might account for the underrecognition of ASD in girls. Despite the existence of different norms for boys and girls with ASD on several major screening tests, the algorithm of the Autism Diagnosis Interview-Revised (ADI-R) has not been reformulated. The aim of our study was to investigate which ADI-R items discriminate between males and females, and to evaluate their weighting in the final diagnosis of autism. We then conducted discriminant analysis (DA) on a sample of 594 probands including 129 females with ASD, recruited by the Paris Autism Research International Sibpair (PARIS) Study. A replication analysis was run on an independent sample of 1716 probands including 338 females with ASD, recruited through the Autism Genetics Resource Exchange (AGRE) program. Entering the raw scores for all ADI-R items as independent variables, the DA correctly classified 78.9% of males and 72.9% of females (P? En ligne : http://dx.doi.org/10.1002/aur.1715 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=307

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

---

1 (1 - 5 / 5)