4 recherche sur le mot-clé 'cognitive dysfunction'

Co-occurring Down Syndrome and Autism Spectrum Disorder: Cognitive, Adaptive, and Behavioral Characteristics / Kathryn BRADBURY in Journal of Autism and Developmental Disorders, 52-3 (March 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-3 (March 2022) . - p.1235-1246 Titre : Co-occurring Down Syndrome and Autism Spectrum Disorder: Cognitive, Adaptive, and Behavioral Characteristics Type de document : texte imprimé Auteurs : Kathryn BRADBURY, Auteur ; Emily I. ANDERBERG, Auteur ; Lark HUANG-STORMS, Auteur ; Iulia VASILE, Auteur ; Rachel K. GREENE, Auteur ; Susanne W. DUVALL, Auteur Article en page(s) : p.1235-1246 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/complications/epidemiology/psychology  Child  Cognition  Cognitive Dysfunction  Down Syndrome/complications/epidemiology/psychology  Humans  Adaptive functioning  Autism spectrum disorder  Cognitive functioning  Down syndrome  Dual diagnosis  Emotional and behavioral functioning Index. décimale : PER Périodiques Résumé : The current study explores functioning in individuals with co-occurring Autism Spectrum Disorder and Down Syndrome (ASD+DS; n = 23), individuals with ASD and cognitive impairment (ASD+ID; n = 99) and individuals with idiopathic ID (n = 38). ANCOVA results revealed that individuals with ASD+DS showed strengths in behavioral functioning compared to individuals with ID and more similar behavioral functioning to those with ASD+ID (η(2) = 0.12), with the exception of disruptive behaviors. Cognitive functioning (ɸ(c) = 0.41) and ASD symptomatology (η(2) = 0.11) were more comparable for children with ASD+DS and ASD + ID than for individuals with ID. Individuals with ASD+DS had the lowest overall adaptive skills (η(2) = 0.11). Findings highlight similarities between ASD+DS and ASD+ID groups, emphasizing the importance of ASD identification within the DS population to provide access to specific interventions. En ligne : http://dx.doi.org/10.1007/s10803-021-05016-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455 [article] Co-occurring Down Syndrome and Autism Spectrum Disorder: Cognitive, Adaptive, and Behavioral Characteristics [texte imprimé] / Kathryn BRADBURY, Auteur ; Emily I. ANDERBERG, Auteur ; Lark HUANG-STORMS, Auteur ; Iulia VASILE, Auteur ; Rachel K. GREENE, Auteur ; Susanne W. DUVALL, Auteur . - p.1235-1246. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-3 (March 2022) . - p.1235-1246 Mots-clés : Autism Spectrum Disorder/complications/epidemiology/psychology  Child  Cognition  Cognitive Dysfunction  Down Syndrome/complications/epidemiology/psychology  Humans  Adaptive functioning  Autism spectrum disorder  Cognitive functioning  Down syndrome  Dual diagnosis  Emotional and behavioral functioning Index. décimale : PER Périodiques Résumé : The current study explores functioning in individuals with co-occurring Autism Spectrum Disorder and Down Syndrome (ASD+DS; n = 23), individuals with ASD and cognitive impairment (ASD+ID; n = 99) and individuals with idiopathic ID (n = 38). ANCOVA results revealed that individuals with ASD+DS showed strengths in behavioral functioning compared to individuals with ID and more similar behavioral functioning to those with ASD+ID (η(2) = 0.12), with the exception of disruptive behaviors. Cognitive functioning (ɸ(c) = 0.41) and ASD symptomatology (η(2) = 0.11) were more comparable for children with ASD+DS and ASD + ID than for individuals with ID. Individuals with ASD+DS had the lowest overall adaptive skills (η(2) = 0.11). Findings highlight similarities between ASD+DS and ASD+ID groups, emphasizing the importance of ASD identification within the DS population to provide access to specific interventions. En ligne : http://dx.doi.org/10.1007/s10803-021-05016-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455

Complex Interplay Between Cognitive Ability and Social Motivation in Predicting Social Skill: A Unique Role for Social Motivation in Children With Autism / Elena ITSKOVICH in Autism Research, 14-1 (January 2021)  

Public ISBD [article]  inAutism Research > 14-1 (January 2021) . - p.86-92 Titre : Complex Interplay Between Cognitive Ability and Social Motivation in Predicting Social Skill: A Unique Role for Social Motivation in Children With Autism Type de document : texte imprimé Auteurs : Elena ITSKOVICH, Auteur ; Olena ZYGA, Auteur ; Robin A. LIBOVE, Auteur ; Jennifer M. PHILLIPS, Auteur ; Joseph P. GARNER, Auteur ; Karen J. PARKER, Auteur Article en page(s) : p.86-92 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  children  cognitive dysfunction  intelligence tests  motivation  social skill  socialization Index. décimale : PER Périodiques Résumé : Impairment in social interaction is a core feature of autism spectrum disorder (ASD), but the factors which contribute to this social skill deficiency are poorly understood. Previous research has shown that cognitive ability can impact social skill development in ASD. Yet, children with ASD whose cognitive abilities are in the normal range nevertheless demonstrate deficits in social skill. More recently, the social motivation theory of ASD has emerged as a framework by which to understand how failure to seek social experiences may lead to social skill deficits. This study was designed to better understand the relationships between cognitive ability, social motivation, and social skill in a well-characterized cohort of children with ASD (n = 79), their unaffected siblings (n = 50), and unrelated neurotypical controls (n = 60). The following instruments were used: The Stanford-Binet intelligence quotient (IQ), the Social Responsiveness Scale's Social Motivation Subscale, and the Vineland Adaptive Behavior Scales' Socialization Standard Score. We found that lower cognitive ability contributed to diminished social skill, but did so universally in all children. In contrast, social motivation strongly predicted social skill only in children with ASD, such that those with the lowest social motivation exhibited the greatest social skill impairment. Notably, this relationship was observed across a large range of intellectual ability but was most pronounced in those with IQs ≥ 80. These findings establish a unique link between social motivation and social skill in ASD and support the hypothesis that low social motivation may impair social skill acquisition in this disorder, particularly in children without intellectual disability. LAY SUMMARY: The relationships between cognitive ability, social motivation, and social skill are poorly understood. Here we report that cognitive ability predicts social skill in all children, whereas social motivation predicts social skill only in children with autism. These results establish a unique link between social motivation and social skill in autism, and suggest that low social motivation may impair social skill acquisition in this disorder, particularly in those without intellectual disability. En ligne : http://dx.doi.org/10.1002/aur.2409 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=441 [article] Complex Interplay Between Cognitive Ability and Social Motivation in Predicting Social Skill: A Unique Role for Social Motivation in Children With Autism [texte imprimé] / Elena ITSKOVICH, Auteur ; Olena ZYGA, Auteur ; Robin A. LIBOVE, Auteur ; Jennifer M. PHILLIPS, Auteur ; Joseph P. GARNER, Auteur ; Karen J. PARKER, Auteur . - p.86-92. Langues : Anglais (eng) in Autism Research > 14-1 (January 2021) . - p.86-92 Mots-clés : autism spectrum disorder  children  cognitive dysfunction  intelligence tests  motivation  social skill  socialization Index. décimale : PER Périodiques Résumé : Impairment in social interaction is a core feature of autism spectrum disorder (ASD), but the factors which contribute to this social skill deficiency are poorly understood. Previous research has shown that cognitive ability can impact social skill development in ASD. Yet, children with ASD whose cognitive abilities are in the normal range nevertheless demonstrate deficits in social skill. More recently, the social motivation theory of ASD has emerged as a framework by which to understand how failure to seek social experiences may lead to social skill deficits. This study was designed to better understand the relationships between cognitive ability, social motivation, and social skill in a well-characterized cohort of children with ASD (n = 79), their unaffected siblings (n = 50), and unrelated neurotypical controls (n = 60). The following instruments were used: The Stanford-Binet intelligence quotient (IQ), the Social Responsiveness Scale's Social Motivation Subscale, and the Vineland Adaptive Behavior Scales' Socialization Standard Score. We found that lower cognitive ability contributed to diminished social skill, but did so universally in all children. In contrast, social motivation strongly predicted social skill only in children with ASD, such that those with the lowest social motivation exhibited the greatest social skill impairment. Notably, this relationship was observed across a large range of intellectual ability but was most pronounced in those with IQs ≥ 80. These findings establish a unique link between social motivation and social skill in ASD and support the hypothesis that low social motivation may impair social skill acquisition in this disorder, particularly in children without intellectual disability. LAY SUMMARY: The relationships between cognitive ability, social motivation, and social skill are poorly understood. Here we report that cognitive ability predicts social skill in all children, whereas social motivation predicts social skill only in children with autism. These results establish a unique link between social motivation and social skill in autism, and suggest that low social motivation may impair social skill acquisition in this disorder, particularly in those without intellectual disability. En ligne : http://dx.doi.org/10.1002/aur.2409 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=441

A multidisciplinary approach unravels early and persistent effects of X-ray exposure at the onset of prenatal neurogenesis / Tine VERREET in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.3 Titre : A multidisciplinary approach unravels early and persistent effects of X-ray exposure at the onset of prenatal neurogenesis Type de document : texte imprimé Auteurs : Tine VERREET, Auteur ; Roel QUINTENS, Auteur ; Debby VAN DAM, Auteur ; Mieke VERSLEGERS, Auteur ; Mirella TANORI, Auteur ; Arianna CASCIATI, Auteur ; Mieke NEEFS, Auteur ; Liselotte LEYSEN, Auteur ; Arlette MICHAUX, Auteur ; Ann JANSSEN, Auteur ; Emiliano D'AGOSTINO, Auteur ; Greetje VANDE VELDE, Auteur ; Sarah BAATOUT, Auteur ; Lieve MOONS, Auteur ; Simonetta PAZZAGLIA, Auteur ; Anna SARAN, Auteur ; Uwe HIMMELREICH, Auteur ; Peter Paul DE DEYN, Auteur ; Mohammed Abderrafi BENOTMANE, Auteur Article en page(s) : p.3 Langues : Anglais (eng) Mots-clés : Apoptosis  Brain development  Cognitive dysfunction  Mri  Radiation Index. décimale : PER Périodiques Résumé : BACKGROUND: In humans, in utero exposure to ionising radiation results in an increased prevalence of neurological aberrations, such as small head size, mental retardation and decreased IQ levels. Yet, the association between early damaging events and long-term neuronal anomalies remains largely elusive. METHODS: Mice were exposed to different X-ray doses, ranging between 0.0 and 1.0 Gy, at embryonic days (E) 10, 11 or 12 and subjected to behavioural tests at 12 weeks of age. Underlying mechanisms of irradiation at E11 were further unravelled using magnetic resonance imaging (MRI) and spectroscopy, diffusion tensor imaging, gene expression profiling, histology and immunohistochemistry. RESULTS: Irradiation at the onset of neurogenesis elicited behavioural changes in young adult mice, dependent on the timing of exposure. As locomotor behaviour and hippocampal-dependent spatial learning and memory were most particularly affected after irradiation at E11 with 1.0 Gy, this condition was used for further mechanistic analyses, focusing on the cerebral cortex and hippocampus. A classical p53-mediated apoptotic response was found shortly after exposure. Strikingly, in the neocortex, the majority of apoptotic and microglial cells were residing in the outer layer at 24 h after irradiation, suggesting cell death occurrence in differentiating neurons rather than proliferating cells. Furthermore, total brain volume, cortical thickness and ventricle size were decreased in the irradiated embryos. At 40 weeks of age, MRI showed that the ventricles were enlarged whereas N-acetyl aspartate concentrations and functional anisotropy were reduced in the cortex of the irradiated animals, indicating a decrease in neuronal cell number and persistent neuroinflammation. Finally, in the hippocampus, we revealed a reduction in general neurogenic proliferation and in the amount of Sox2-positive precursors after radiation exposure, although only at a juvenile age. CONCLUSIONS: Our findings provide evidence for a radiation-induced disruption of mouse brain development, resulting in behavioural differences. We propose that alterations in cortical morphology and juvenile hippocampal neurogenesis might both contribute to the observed aberrant behaviour. Furthermore, our results challenge the generally assumed view of a higher radiosensitivity in dividing cells. Overall, this study offers new insights into irradiation-dependent effects in the embryonic brain, of relevance for the neurodevelopmental and radiobiological field. En ligne : http://dx.doi.org/10.1186/1866-1955-7-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] A multidisciplinary approach unravels early and persistent effects of X-ray exposure at the onset of prenatal neurogenesis [texte imprimé] / Tine VERREET, Auteur ; Roel QUINTENS, Auteur ; Debby VAN DAM, Auteur ; Mieke VERSLEGERS, Auteur ; Mirella TANORI, Auteur ; Arianna CASCIATI, Auteur ; Mieke NEEFS, Auteur ; Liselotte LEYSEN, Auteur ; Arlette MICHAUX, Auteur ; Ann JANSSEN, Auteur ; Emiliano D'AGOSTINO, Auteur ; Greetje VANDE VELDE, Auteur ; Sarah BAATOUT, Auteur ; Lieve MOONS, Auteur ; Simonetta PAZZAGLIA, Auteur ; Anna SARAN, Auteur ; Uwe HIMMELREICH, Auteur ; Peter Paul DE DEYN, Auteur ; Mohammed Abderrafi BENOTMANE, Auteur . - p.3. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.3 Mots-clés : Apoptosis  Brain development  Cognitive dysfunction  Mri  Radiation Index. décimale : PER Périodiques Résumé : BACKGROUND: In humans, in utero exposure to ionising radiation results in an increased prevalence of neurological aberrations, such as small head size, mental retardation and decreased IQ levels. Yet, the association between early damaging events and long-term neuronal anomalies remains largely elusive. METHODS: Mice were exposed to different X-ray doses, ranging between 0.0 and 1.0 Gy, at embryonic days (E) 10, 11 or 12 and subjected to behavioural tests at 12 weeks of age. Underlying mechanisms of irradiation at E11 were further unravelled using magnetic resonance imaging (MRI) and spectroscopy, diffusion tensor imaging, gene expression profiling, histology and immunohistochemistry. RESULTS: Irradiation at the onset of neurogenesis elicited behavioural changes in young adult mice, dependent on the timing of exposure. As locomotor behaviour and hippocampal-dependent spatial learning and memory were most particularly affected after irradiation at E11 with 1.0 Gy, this condition was used for further mechanistic analyses, focusing on the cerebral cortex and hippocampus. A classical p53-mediated apoptotic response was found shortly after exposure. Strikingly, in the neocortex, the majority of apoptotic and microglial cells were residing in the outer layer at 24 h after irradiation, suggesting cell death occurrence in differentiating neurons rather than proliferating cells. Furthermore, total brain volume, cortical thickness and ventricle size were decreased in the irradiated embryos. At 40 weeks of age, MRI showed that the ventricles were enlarged whereas N-acetyl aspartate concentrations and functional anisotropy were reduced in the cortex of the irradiated animals, indicating a decrease in neuronal cell number and persistent neuroinflammation. Finally, in the hippocampus, we revealed a reduction in general neurogenic proliferation and in the amount of Sox2-positive precursors after radiation exposure, although only at a juvenile age. CONCLUSIONS: Our findings provide evidence for a radiation-induced disruption of mouse brain development, resulting in behavioural differences. We propose that alterations in cortical morphology and juvenile hippocampal neurogenesis might both contribute to the observed aberrant behaviour. Furthermore, our results challenge the generally assumed view of a higher radiosensitivity in dividing cells. Overall, this study offers new insights into irradiation-dependent effects in the embryonic brain, of relevance for the neurodevelopmental and radiobiological field. En ligne : http://dx.doi.org/10.1186/1866-1955-7-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project / Petrus J. DE VRIES in Journal of Neurodevelopmental Disorders, 12 (2020)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 12 (2020) Titre : Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project Type de document : texte imprimé Auteurs : Petrus J. DE VRIES, Auteur ; Elena BELOUSOVA, Auteur ; Mirjana P. BENEDIK, Auteur ; Tom CARTER, Auteur ; Vincent COTTIN, Auteur ; Paolo CURATOLO, Auteur ; Lisa D'AMATO, Auteur ; Guillaume BEURE D'AUGÈRES, Auteur ; José C. FERREIRA, Auteur ; Martha FEUCHT, Auteur ; Carla FLADROWSKI, Auteur ; Christoph HERTZBERG, Auteur ; Sergiusz JOZWIAK, Auteur ; John A. LAWSON, Auteur ; Alfons MACAYA, Auteur ; Ruben MARQUES, Auteur ; Rima NABBOUT, Auteur ; Finbar O'CALLAGHAN, Auteur ; Jiong QIN, Auteur ; Valentin SANDER, Auteur ; Matthias SAUTER, Auteur ; Seema SHAH, Auteur ; Yukitoshi TAKAHASHI, Auteur ; Renaud TOURAINE, Auteur ; Sotiris YOUROUKOS, Auteur ; Bernard ZONNENBERG, Auteur ; J Chris KINGSWOOD, Auteur ; Anna C. JANSEN, Auteur ; TOSCA CONSORTIUM AND TOSCA INVESTIGATORS, Auteur Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/epidemiology/etiology  Checklist  Cognitive Dysfunction  Feasibility Studies  Female  Humans  Male  Tuberous Sclerosis/complications/epidemiology  Asd  Cluster analysis  Factor analysis  Natural TAND clusters  Neuropsychiatric  Registry  Tand  Tosca  Tuberous sclerosis complex  AM, SY, MPB, BZ, and ACJ received honoraria and travel support from Novartis. VC  received personal fees for consulting  lecture fees and travel from Actelion,  Bayer, Biogen Idec, Boehringer Ingelheim, Gilead, GSK, MSD, Novartis, Pfizer,  Roche, and Sanofi  grants from Actelion, Boehringer Ingelheim, GSK, Pfizer, and  Roche  and personal fees for developing educational material from Boehringer  Ingelheim and Roche. PJdV has been on the steering group of the EXIST-1, 2, and 3  studies sponsored by Novartis and co-PI on two investigator-initiated studies  part-funded by Novartis. RN received grant support, paid to her institution, from  Eisai and lecture fees from Nutricia, Eisai, Advicenne, and GW Pharma. YT  received personal fees from Novartis for lecture and for copyright of referential  figures from the journals and grant from the Japanese government for intractable  epilepsy research. SJ was partly financed by the EC Seventh Framework Programme  (FP7/2007-2013  EPISTOP, grant agreement no. 602391), the Polish Ministerial  funds for science (years 2013–2018) for the implementation of international  co-financed project, and the grant EPIMARKER of the Polish National Center for  Research and Development No. STRATEGMED3/306306/4/2016. JCK, PC, CH, JAL, and JQ  received research grants from Novartis. RM and SS are employees of Novartis. LD’A  was an employee of Novartis at the time of manuscript concept approval. VS  reported no conflict of interest. Index. décimale : PER Périodiques Résumé : BACKGROUND: Tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND) have unique, individual patterns that pose significant challenges for diagnosis, psycho-education, and intervention planning. A recent study suggested that it may be feasible to use TAND Checklist data and data-driven methods to generate natural TAND clusters. However, the study had a small sample size and data from only two countries. Here, we investigated the replicability of identifying natural TAND clusters from a larger and more diverse sample from the TOSCA study. METHODS: As part of the TOSCA international TSC registry study, this embedded research project collected TAND Checklist data from individuals with TSC. Correlation coefficients were calculated for TAND variables to generate a correlation matrix. Hierarchical cluster and factor analysis methods were used for data reduction and identification of natural TAND clusters. RESULTS: A total of 85 individuals with TSC (female:male, 40:45) from 7 countries were enrolled. Cluster analysis grouped the TAND variables into 6 clusters: a scholastic cluster (reading, writing, spelling, mathematics, visuo-spatial difficulties, disorientation), a hyperactive/impulsive cluster (hyperactivity, impulsivity, self-injurious behavior), a mood/anxiety cluster (anxiety, depressed mood, sleep difficulties, shyness), a neuropsychological cluster (attention/concentration difficulties, memory, attention, dual/multi-tasking, executive skills deficits), a dysregulated behavior cluster (mood swings, aggressive outbursts, temper tantrums), and an autism spectrum disorder (ASD)-like cluster (delayed language, poor eye contact, repetitive behaviors, unusual use of language, inflexibility, difficulties associated with eating). The natural clusters mapped reasonably well onto the six-factor solution generated. Comparison between cluster and factor solutions from this study and the earlier feasibility study showed significant similarity, particularly in cluster solutions. CONCLUSIONS: Results from this TOSCA research project in an independent international data set showed that the combination of cluster analysis and factor analysis may be able to identify clinically meaningful natural TAND clusters. Findings were remarkably similar to those identified in the earlier feasibility study, supporting the potential robustness of these natural TAND clusters. Further steps should include examination of larger samples, investigation of internal consistency, and evaluation of the robustness of the proposed natural clusters. En ligne : https://dx.doi.org/10.1186/s11689-020-09327-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project [texte imprimé] / Petrus J. DE VRIES, Auteur ; Elena BELOUSOVA, Auteur ; Mirjana P. BENEDIK, Auteur ; Tom CARTER, Auteur ; Vincent COTTIN, Auteur ; Paolo CURATOLO, Auteur ; Lisa D'AMATO, Auteur ; Guillaume BEURE D'AUGÈRES, Auteur ; José C. FERREIRA, Auteur ; Martha FEUCHT, Auteur ; Carla FLADROWSKI, Auteur ; Christoph HERTZBERG, Auteur ; Sergiusz JOZWIAK, Auteur ; John A. LAWSON, Auteur ; Alfons MACAYA, Auteur ; Ruben MARQUES, Auteur ; Rima NABBOUT, Auteur ; Finbar O'CALLAGHAN, Auteur ; Jiong QIN, Auteur ; Valentin SANDER, Auteur ; Matthias SAUTER, Auteur ; Seema SHAH, Auteur ; Yukitoshi TAKAHASHI, Auteur ; Renaud TOURAINE, Auteur ; Sotiris YOUROUKOS, Auteur ; Bernard ZONNENBERG, Auteur ; J Chris KINGSWOOD, Auteur ; Anna C. JANSEN, Auteur ; TOSCA CONSORTIUM AND TOSCA INVESTIGATORS, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 12 (2020) Mots-clés : Autism Spectrum Disorder/epidemiology/etiology  Checklist  Cognitive Dysfunction  Feasibility Studies  Female  Humans  Male  Tuberous Sclerosis/complications/epidemiology  Asd  Cluster analysis  Factor analysis  Natural TAND clusters  Neuropsychiatric  Registry  Tand  Tosca  Tuberous sclerosis complex  AM, SY, MPB, BZ, and ACJ received honoraria and travel support from Novartis. VC  received personal fees for consulting  lecture fees and travel from Actelion,  Bayer, Biogen Idec, Boehringer Ingelheim, Gilead, GSK, MSD, Novartis, Pfizer,  Roche, and Sanofi  grants from Actelion, Boehringer Ingelheim, GSK, Pfizer, and  Roche  and personal fees for developing educational material from Boehringer  Ingelheim and Roche. PJdV has been on the steering group of the EXIST-1, 2, and 3  studies sponsored by Novartis and co-PI on two investigator-initiated studies  part-funded by Novartis. RN received grant support, paid to her institution, from  Eisai and lecture fees from Nutricia, Eisai, Advicenne, and GW Pharma. YT  received personal fees from Novartis for lecture and for copyright of referential  figures from the journals and grant from the Japanese government for intractable  epilepsy research. SJ was partly financed by the EC Seventh Framework Programme  (FP7/2007-2013  EPISTOP, grant agreement no. 602391), the Polish Ministerial  funds for science (years 2013–2018) for the implementation of international  co-financed project, and the grant EPIMARKER of the Polish National Center for  Research and Development No. STRATEGMED3/306306/4/2016. JCK, PC, CH, JAL, and JQ  received research grants from Novartis. RM and SS are employees of Novartis. LD’A  was an employee of Novartis at the time of manuscript concept approval. VS  reported no conflict of interest. Index. décimale : PER Périodiques Résumé : BACKGROUND: Tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND) have unique, individual patterns that pose significant challenges for diagnosis, psycho-education, and intervention planning. A recent study suggested that it may be feasible to use TAND Checklist data and data-driven methods to generate natural TAND clusters. However, the study had a small sample size and data from only two countries. Here, we investigated the replicability of identifying natural TAND clusters from a larger and more diverse sample from the TOSCA study. METHODS: As part of the TOSCA international TSC registry study, this embedded research project collected TAND Checklist data from individuals with TSC. Correlation coefficients were calculated for TAND variables to generate a correlation matrix. Hierarchical cluster and factor analysis methods were used for data reduction and identification of natural TAND clusters. RESULTS: A total of 85 individuals with TSC (female:male, 40:45) from 7 countries were enrolled. Cluster analysis grouped the TAND variables into 6 clusters: a scholastic cluster (reading, writing, spelling, mathematics, visuo-spatial difficulties, disorientation), a hyperactive/impulsive cluster (hyperactivity, impulsivity, self-injurious behavior), a mood/anxiety cluster (anxiety, depressed mood, sleep difficulties, shyness), a neuropsychological cluster (attention/concentration difficulties, memory, attention, dual/multi-tasking, executive skills deficits), a dysregulated behavior cluster (mood swings, aggressive outbursts, temper tantrums), and an autism spectrum disorder (ASD)-like cluster (delayed language, poor eye contact, repetitive behaviors, unusual use of language, inflexibility, difficulties associated with eating). The natural clusters mapped reasonably well onto the six-factor solution generated. Comparison between cluster and factor solutions from this study and the earlier feasibility study showed significant similarity, particularly in cluster solutions. CONCLUSIONS: Results from this TOSCA research project in an independent international data set showed that the combination of cluster analysis and factor analysis may be able to identify clinically meaningful natural TAND clusters. Findings were remarkably similar to those identified in the earlier feasibility study, supporting the potential robustness of these natural TAND clusters. Further steps should include examination of larger samples, investigation of internal consistency, and evaluation of the robustness of the proposed natural clusters. En ligne : https://dx.doi.org/10.1186/s11689-020-09327-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573