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

A functional polymorphism of the brain derived neurotrophic factor gene and cortical anatomy in autism spectrum disorder / Armin RAZNAHAN in Journal of Neurodevelopmental Disorders, 1-3 (September 2009)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 1-3 (September 2009) . - p.215-23 Titre : A functional polymorphism of the brain derived neurotrophic factor gene and cortical anatomy in autism spectrum disorder Type de document : texte imprimé Auteurs : Armin RAZNAHAN, Auteur ; Roberto TORO, Auteur ; Petra PROITSI, Auteur ; John POWELL, Auteur ; Tomáš PAUS, Auteur ; Patrick BOLTON, Auteur ; Declan G.M. MURPHY, Auteur Article en page(s) : p.215-23 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism Spectrum Disorder (ASD) is associated with both (i) post-mortem and neuroimaging evidence of abnormal cortical development, and (ii) altered signalling in Brain Derived Neurotrophic Factor (BDNF) pathways - which regulate neuroproliferative and neuroplastic processes. In healthy controls genotype at a single nucleotide polymorphism that alters BDNF signalling (Val66met) has been related to regional cortical volume. It is not known however if this influence on brain development is intact in ASD. Therefore we compared the relationship between genotype and cortical anatomy (as measured using in vivo Magnetic Resonance Imaging) in 41 people with ASD and 30 healthy controls. We measured cortical volume, and its two sole determinants - cortical thickness and surface area - which reflect differing neurodevelopmental processes. We found "Group-by-Genotype" interactions for cortical volume in medial (caudal anterior cingulate, posterior cingulate) and lateral (rostral middle, lateral orbitofrontal, pars orbitalis and pars triangularis) frontal cortices. Furthermore, within (only) these regions "Group-by-Genotype" interactions were also found for surface area. No effects were found for cortical thickness in any region. Our preliminary findings suggest that people with ASD have differences from controls in the relationship between BDNF val66met genotype and regional (especially frontal) cortical volume and surface area, but not cortical thickness. Therefore alterations in the relationship between BDNF val66met genotype and surface area in ASD may drive the findings for volume. If correct, this suggests ASD is associated with a distorted relationship between BDNF val66met genotype and the determinants of regional cortical surface area - gyrification and/or sulcal positioning. En ligne : http://dx.doi.org/10.1007/s11689-009-9012-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=341 [article] A functional polymorphism of the brain derived neurotrophic factor gene and cortical anatomy in autism spectrum disorder [texte imprimé] / Armin RAZNAHAN, Auteur ; Roberto TORO, Auteur ; Petra PROITSI, Auteur ; John POWELL, Auteur ; Tomáš PAUS, Auteur ; Patrick BOLTON, Auteur ; Declan G.M. MURPHY, Auteur . - p.215-23. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 1-3 (September 2009) . - p.215-23 Index. décimale : PER Périodiques Résumé : Autism Spectrum Disorder (ASD) is associated with both (i) post-mortem and neuroimaging evidence of abnormal cortical development, and (ii) altered signalling in Brain Derived Neurotrophic Factor (BDNF) pathways - which regulate neuroproliferative and neuroplastic processes. In healthy controls genotype at a single nucleotide polymorphism that alters BDNF signalling (Val66met) has been related to regional cortical volume. It is not known however if this influence on brain development is intact in ASD. Therefore we compared the relationship between genotype and cortical anatomy (as measured using in vivo Magnetic Resonance Imaging) in 41 people with ASD and 30 healthy controls. We measured cortical volume, and its two sole determinants - cortical thickness and surface area - which reflect differing neurodevelopmental processes. We found "Group-by-Genotype" interactions for cortical volume in medial (caudal anterior cingulate, posterior cingulate) and lateral (rostral middle, lateral orbitofrontal, pars orbitalis and pars triangularis) frontal cortices. Furthermore, within (only) these regions "Group-by-Genotype" interactions were also found for surface area. No effects were found for cortical thickness in any region. Our preliminary findings suggest that people with ASD have differences from controls in the relationship between BDNF val66met genotype and regional (especially frontal) cortical volume and surface area, but not cortical thickness. Therefore alterations in the relationship between BDNF val66met genotype and surface area in ASD may drive the findings for volume. If correct, this suggests ASD is associated with a distorted relationship between BDNF val66met genotype and the determinants of regional cortical surface area - gyrification and/or sulcal positioning. En ligne : http://dx.doi.org/10.1007/s11689-009-9012-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=341

L'importance de "ne pas trouver" / Roberto TORO in Bulletin Scientifique de l'arapi (Le), 32 (Automne 2013)

Public ISBD [article]  inBulletin Scientifique de l'arapi (Le) > 32 (Automne 2013) . - p.67-70 Titre : L'importance de "ne pas trouver" Type de document : texte imprimé Auteurs : Roberto TORO, Auteur Année de publication : 2013 Article en page(s) : p.67-70 Langues : Français (fre) Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=229 [article] L'importance de "ne pas trouver" [texte imprimé] / Roberto TORO, Auteur . - 2013 . - p.67-70. Langues : Français (fre) in Bulletin Scientifique de l'arapi (Le) > 32 (Automne 2013) . - p.67-70 Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=229

Sex differences in brain structure: a twin study on restricted and repetitive behaviors in twin pairs with and without autism / Annelies VAN'T WESTEINDE in Molecular Autism, 11 (2020)  

Public ISBD [article]  inMolecular Autism > 11 (2020) . - 1 p. Titre : Sex differences in brain structure: a twin study on restricted and repetitive behaviors in twin pairs with and without autism Type de document : texte imprimé Auteurs : Annelies VAN'T WESTEINDE, Auteur ; Elodie CAUVET, Auteur ; Roberto TORO, Auteur ; Ralf KUJA-HALKOLA, Auteur ; Janina NEUFELD, Auteur ; Katell MEVEL, Auteur ; Sven BÖLTE, Auteur Article en page(s) : 1 p. Langues : Anglais (eng) Mots-clés : Autism  Neuroanatomy  Repetitive behaviors  Sex differences  Twins Index. décimale : PER Périodiques Résumé : Background: Females with autism spectrum disorder have been reported to exhibit fewer and less severe restricted and repetitive behaviors and interests compared to males. This difference might indicate sex-specific alterations of brain networks involved in autism symptom domains, especially within cortico-striatal and sensory integration networks. This study used a well-controlled twin design to examine sex differences in brain anatomy in relation to repetitive behaviors. Methods: In 75 twin pairs (n = 150, 62 females, 88 males) enriched for autism spectrum disorder (n = 32), and other neurodevelopmental disorders (n = 32), we explored the association of restricted and repetitive behaviors and interests-operationalized by the Autism Diagnostic Interview-Revised (C domain) and the Social Responsiveness Scale-2 (Restricted Interests and Repetitive Behavior subscale)-with cortical volume, surface area and thickness of neocortical, sub-cortical, and cerebellar networks. Results: Co-twin control analyses revealed within-pair associations between RRBI symptoms and increased thickness of the right intraparietal sulcus and reduced volume of the right orbital gyrus in females only, even though the mean number of RRBIs did not differ between the sexes. In a sub-sample of ASD-discordant pairs, increased thickness in association with RRBIs was found exclusively in females in the orbitofrontal regions, superior frontal gyrus, and intraparietal sulcus, while in males RRBIs tended to be associated with increased volume of the bilateral pallidum. Limitations: However, due to a small sample size and the small difference in RRBI symptoms within pairs, the results of this exploratory study need to be interpreted with caution. Conclusions: Our findings suggest that structural alterations of fronto-parietal networks in association with RRBIs are found mostly in females, while striatal networks are more affected in males. These results endorse the importance of investigating sex differences in the neurobiology of autism symptoms, and indicate different etiological pathways underlying restricted and repetitive behaviors and interests in females and males. En ligne : http://dx.doi.org/10.1186/s13229-019-0309-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414 [article] Sex differences in brain structure: a twin study on restricted and repetitive behaviors in twin pairs with and without autism [texte imprimé] / Annelies VAN'T WESTEINDE, Auteur ; Elodie CAUVET, Auteur ; Roberto TORO, Auteur ; Ralf KUJA-HALKOLA, Auteur ; Janina NEUFELD, Auteur ; Katell MEVEL, Auteur ; Sven BÖLTE, Auteur . - 1 p. Langues : Anglais (eng) in Molecular Autism > 11 (2020) . - 1 p. Mots-clés : Autism  Neuroanatomy  Repetitive behaviors  Sex differences  Twins Index. décimale : PER Périodiques Résumé : Background: Females with autism spectrum disorder have been reported to exhibit fewer and less severe restricted and repetitive behaviors and interests compared to males. This difference might indicate sex-specific alterations of brain networks involved in autism symptom domains, especially within cortico-striatal and sensory integration networks. This study used a well-controlled twin design to examine sex differences in brain anatomy in relation to repetitive behaviors. Methods: In 75 twin pairs (n = 150, 62 females, 88 males) enriched for autism spectrum disorder (n = 32), and other neurodevelopmental disorders (n = 32), we explored the association of restricted and repetitive behaviors and interests-operationalized by the Autism Diagnostic Interview-Revised (C domain) and the Social Responsiveness Scale-2 (Restricted Interests and Repetitive Behavior subscale)-with cortical volume, surface area and thickness of neocortical, sub-cortical, and cerebellar networks. Results: Co-twin control analyses revealed within-pair associations between RRBI symptoms and increased thickness of the right intraparietal sulcus and reduced volume of the right orbital gyrus in females only, even though the mean number of RRBIs did not differ between the sexes. In a sub-sample of ASD-discordant pairs, increased thickness in association with RRBIs was found exclusively in females in the orbitofrontal regions, superior frontal gyrus, and intraparietal sulcus, while in males RRBIs tended to be associated with increased volume of the bilateral pallidum. Limitations: However, due to a small sample size and the small difference in RRBI symptoms within pairs, the results of this exploratory study need to be interpreted with caution. Conclusions: Our findings suggest that structural alterations of fronto-parietal networks in association with RRBIs are found mostly in females, while striatal networks are more affected in males. These results endorse the importance of investigating sex differences in the neurobiology of autism symptoms, and indicate different etiological pathways underlying restricted and repetitive behaviors and interests in females and males. En ligne : http://dx.doi.org/10.1186/s13229-019-0309-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414

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

Public ISBD [article]  inMolecular Autism > 8 (2017) . - 27p. Titre : The EU-AIMS Longitudinal European Autism Project (LEAP): clinical characterisation Type de document : texte imprimé Auteurs : Tony CHARMAN, Auteur ; Eva LOTH, Auteur ; Julian TILLMANN, Auteur ; Daisy CRAWLEY, Auteur ; Caroline WOOLDRIDGE, Auteur ; David GOYARD, Auteur ; Jumana AHMAD, Auteur ; Bonnie AUYEUNG, Auteur ; Sara AMBROSINO, Auteur ; Tobias BANASCHEWSKI, Auteur ; Simon BARON-COHEN, Auteur ; Sarah BAUMEISTER, Auteur ; Christian F. BECKMANN, Auteur ; Sven BÖLTE, Auteur ; Thomas BOURGERON, Auteur ; Carsten BOURS, Auteur ; Michael BRAMMER, Auteur ; Daniel BRANDEIS, Auteur ; Claudia BROGNA, Auteur ; Yvette G.E. DE BRUIJN, Auteur ; Bhismadev CHAKRABARTI, Auteur ; Ineke CORNELISSEN, Auteur ; Flavio DELL'ACQUA, Auteur ; Guillaume DUMAS, Auteur ; Sarah DURSTON, Auteur ; Christine ECKER, Auteur ; Jessica FAULKNER, Auteur ; Vincent FROUIN, Auteur ; Pilar GARCES, Auteur ; Lindsay HAM, Auteur ; Hannah HAYWARD, Auteur ; Joerg F. HIPP, Auteur ; Rosemary J. HOLT, Auteur ; Johan ISAKSSON, Auteur ; Mark Henry JOHNSON, Auteur ; Emily Jane Harrison JONES, Auteur ; Prantik KUNDU, Auteur ; Meng-Chuan LAI, Auteur ; X. Liogier D'ARDHUY, Auteur ; Michael V. LOMBARDO, Auteur ; David J. LYTHGOE, Auteur ; René MANDL, Auteur ; Luke MASON, Auteur ; Andreas MEYER-LINDENBERG, Auteur ; Carolin MOESSNANG, Auteur ; Nico MUELLER, Auteur ; Laurence O'DWYER, Auteur ; Marianne OLDEHINKEL, Auteur ; Bob ORANJE, Auteur ; Gahan PANDINA, Auteur ; Antonio M. PERSICO, Auteur ; Barbara RUGGERI, Auteur ; Amber N.V. RUIGROK, Auteur ; Jessica SABET, Auteur ; Roberto SACCO, Auteur ; Antonia SAN JOSE CACERES, Auteur ; Emily SIMONOFF, Auteur ; Roberto TORO, Auteur ; Heike TOST, Auteur ; Jack WALDMAN, Auteur ; Steven C.R. WILLIAMS, Auteur ; Marcel P. ZWIERS, Auteur ; Will SPOOREN, Auteur ; Declan G.M. MURPHY, Auteur ; Jan K. BUITELAAR, Auteur Article en page(s) : 27p. Langues : Anglais (eng) Mots-clés : Age  Autism  Autism spectrum disorder  Behaviours  Heterogeneity  Iq  Phenotype  Sex Index. décimale : PER Périodiques Résumé : BACKGROUND: The EU-AIMS Longitudinal European Autism Project (LEAP) is to date the largest multi-centre, multi-disciplinary observational study on biomarkers for autism spectrum disorder (ASD). The current paper describes the clinical characteristics of the LEAP cohort and examines age, sex and IQ differences in ASD core symptoms and common co-occurring psychiatric symptoms. A companion paper describes the overall design and experimental protocol and outlines the strategy to identify stratification biomarkers. METHODS: From six research centres in four European countries, we recruited 437 children and adults with ASD and 300 controls between the ages of 6 and 30 years with IQs varying between 50 and 148. We conducted in-depth clinical characterisation including a wide range of observational, interview and questionnaire measures of the ASD phenotype, as well as co-occurring psychiatric symptoms. RESULTS: The cohort showed heterogeneity in ASD symptom presentation, with only minimal to moderate site differences on core clinical and cognitive measures. On both parent-report interview and questionnaire measures, ASD symptom severity was lower in adults compared to children and adolescents. The precise pattern of differences varied across measures, but there was some evidence of both lower social symptoms and lower repetitive behaviour severity in adults. Males had higher ASD symptom scores than females on clinician-rated and parent interview diagnostic measures but not on parent-reported dimensional measures of ASD symptoms. In contrast, self-reported ASD symptom severity was higher in adults compared to adolescents, and in adult females compared to males. Higher scores on ASD symptom measures were moderately associated with lower IQ. Both inattentive and hyperactive/impulsive ADHD symptoms were lower in adults than in children and adolescents, and males with ASD had higher levels of inattentive and hyperactive/impulsive ADHD symptoms than females. CONCLUSIONS: The established phenotypic heterogeneity in ASD is well captured in the LEAP cohort. Variation both in core ASD symptom severity and in commonly co-occurring psychiatric symptoms were systematically associated with sex, age and IQ. The pattern of ASD symptom differences with age and sex also varied by whether these were clinician ratings or parent- or self-reported which has important implications for establishing stratification biomarkers and for their potential use as outcome measures in clinical trials. En ligne : http://dx.doi.org/10.1186/s13229-017-0145-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329 [article] The EU-AIMS Longitudinal European Autism Project (LEAP): clinical characterisation [texte imprimé] / Tony CHARMAN, Auteur ; Eva LOTH, Auteur ; Julian TILLMANN, Auteur ; Daisy CRAWLEY, Auteur ; Caroline WOOLDRIDGE, Auteur ; David GOYARD, Auteur ; Jumana AHMAD, Auteur ; Bonnie AUYEUNG, Auteur ; Sara AMBROSINO, Auteur ; Tobias BANASCHEWSKI, Auteur ; Simon BARON-COHEN, Auteur ; Sarah BAUMEISTER, Auteur ; Christian F. BECKMANN, Auteur ; Sven BÖLTE, Auteur ; Thomas BOURGERON, Auteur ; Carsten BOURS, Auteur ; Michael BRAMMER, Auteur ; Daniel BRANDEIS, Auteur ; Claudia BROGNA, Auteur ; Yvette G.E. DE BRUIJN, Auteur ; Bhismadev CHAKRABARTI, Auteur ; Ineke CORNELISSEN, Auteur ; Flavio DELL'ACQUA, Auteur ; Guillaume DUMAS, Auteur ; Sarah DURSTON, Auteur ; Christine ECKER, Auteur ; Jessica FAULKNER, Auteur ; Vincent FROUIN, Auteur ; Pilar GARCES, Auteur ; Lindsay HAM, Auteur ; Hannah HAYWARD, Auteur ; Joerg F. HIPP, Auteur ; Rosemary J. HOLT, Auteur ; Johan ISAKSSON, Auteur ; Mark Henry JOHNSON, Auteur ; Emily Jane Harrison JONES, Auteur ; Prantik KUNDU, Auteur ; Meng-Chuan LAI, Auteur ; X. Liogier D'ARDHUY, Auteur ; Michael V. LOMBARDO, Auteur ; David J. LYTHGOE, Auteur ; René MANDL, Auteur ; Luke MASON, Auteur ; Andreas MEYER-LINDENBERG, Auteur ; Carolin MOESSNANG, Auteur ; Nico MUELLER, Auteur ; Laurence O'DWYER, Auteur ; Marianne OLDEHINKEL, Auteur ; Bob ORANJE, Auteur ; Gahan PANDINA, Auteur ; Antonio M. PERSICO, Auteur ; Barbara RUGGERI, Auteur ; Amber N.V. RUIGROK, Auteur ; Jessica SABET, Auteur ; Roberto SACCO, Auteur ; Antonia SAN JOSE CACERES, Auteur ; Emily SIMONOFF, Auteur ; Roberto TORO, Auteur ; Heike TOST, Auteur ; Jack WALDMAN, Auteur ; Steven C.R. WILLIAMS, Auteur ; Marcel P. ZWIERS, Auteur ; Will SPOOREN, Auteur ; Declan G.M. MURPHY, Auteur ; Jan K. BUITELAAR, Auteur . - 27p. Langues : Anglais (eng) in Molecular Autism > 8 (2017) . - 27p. Mots-clés : Age  Autism  Autism spectrum disorder  Behaviours  Heterogeneity  Iq  Phenotype  Sex Index. décimale : PER Périodiques Résumé : BACKGROUND: The EU-AIMS Longitudinal European Autism Project (LEAP) is to date the largest multi-centre, multi-disciplinary observational study on biomarkers for autism spectrum disorder (ASD). The current paper describes the clinical characteristics of the LEAP cohort and examines age, sex and IQ differences in ASD core symptoms and common co-occurring psychiatric symptoms. A companion paper describes the overall design and experimental protocol and outlines the strategy to identify stratification biomarkers. METHODS: From six research centres in four European countries, we recruited 437 children and adults with ASD and 300 controls between the ages of 6 and 30 years with IQs varying between 50 and 148. We conducted in-depth clinical characterisation including a wide range of observational, interview and questionnaire measures of the ASD phenotype, as well as co-occurring psychiatric symptoms. RESULTS: The cohort showed heterogeneity in ASD symptom presentation, with only minimal to moderate site differences on core clinical and cognitive measures. On both parent-report interview and questionnaire measures, ASD symptom severity was lower in adults compared to children and adolescents. The precise pattern of differences varied across measures, but there was some evidence of both lower social symptoms and lower repetitive behaviour severity in adults. Males had higher ASD symptom scores than females on clinician-rated and parent interview diagnostic measures but not on parent-reported dimensional measures of ASD symptoms. In contrast, self-reported ASD symptom severity was higher in adults compared to adolescents, and in adult females compared to males. Higher scores on ASD symptom measures were moderately associated with lower IQ. Both inattentive and hyperactive/impulsive ADHD symptoms were lower in adults than in children and adolescents, and males with ASD had higher levels of inattentive and hyperactive/impulsive ADHD symptoms than females. CONCLUSIONS: The established phenotypic heterogeneity in ASD is well captured in the LEAP cohort. Variation both in core ASD symptom severity and in commonly co-occurring psychiatric symptoms were systematically associated with sex, age and IQ. The pattern of ASD symptom differences with age and sex also varied by whether these were clinician ratings or parent- or self-reported which has important implications for establishing stratification biomarkers and for their potential use as outcome measures in clinical trials. En ligne : http://dx.doi.org/10.1186/s13229-017-0145-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329

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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