Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk? / Claire AMIET in Molecular Autism, (December 2013)  

Public ISBD [article]  inMolecular Autism > (December 2013) Titre : Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk? Type de document : Texte imprimé et/ou numérique Auteurs : Claire AMIET, Auteur ; Isabelle GOURFINKEL-AN, Auteur ; Claudine LAURENT, Auteur ; Nicolas BODEAU, Auteur ; Berengere GENIN, Auteur ; Eric LEGUERN, Auteur ; Sylvie TORDJMAN, Auteur ; David COHEN, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASD) and epilepsy frequently occur together. Prevalence rates are variable, and have been attributed to age, gender, comorbidity, subtype of pervasive developmental disorder (PDD) and risk factors. Recent studies have suggested disparate clinical and genetic settings depending on simplex or multiplex autism. The aim of this study was to assess: 1) the prevalence of epilepsy in multiplex autism and its association with genetic and non-genetic risk factors of major effect, intellectual disability and gender; and 2) whether autism and epilepsy cosegregate within multiplex autism families. We extracted from the Autism Genetic Resource Exchange (AGRE) database (n=3,818 children from 1,264 families) all families with relevant medical data (n=664 children from 290 families). The sample included 478 children with ASD and 186 siblings without ASD. We analyzed the following variables: seizures, genetic and non-genetic risk factors, gender, and cognitive functioning as assessed by Raven's Colored Progressive Matrices (RCPM) and Vineland Adaptive Behavior Scales (VABS). The prevalence of epilepsy was 12.8% in cases with ASD and 2.2% in siblings without ASD (P 10-5). With each RCPM or VABS measure, the risk of epilepsy in multiplex autism was significantly associated with intellectual disability, but not with gender. Identified risk factors (genetic or non-genetic) of autism tended to be significantly associated with epilepsy (P=0.052). When children with prematurity, pre- or perinatal insult, or cerebral palsy were excluded, a genetic risk factor was reported for 6/59 (10.2%) of children with epilepsy and 12/395 (3.0%) of children without epilepsy (P=0.002). Finally, using a permutation test, there was significant evidence that the epilepsy phenotype co-segregated within families (P 10-4). Epilepsy in multiplex autism may define a different subgroup in terms of clinical characteristics and genetic risk. En ligne : http://dx.doi.org/10.1186/2040-2392-4-47 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227 [article] Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk? [Texte imprimé et/ou numérique] / Claire AMIET, Auteur ; Isabelle GOURFINKEL-AN, Auteur ; Claudine LAURENT, Auteur ; Nicolas BODEAU, Auteur ; Berengere GENIN, Auteur ; Eric LEGUERN, Auteur ; Sylvie TORDJMAN, Auteur ; David COHEN, Auteur. Langues : Anglais (eng) in Molecular Autism > (December 2013) Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASD) and epilepsy frequently occur together. Prevalence rates are variable, and have been attributed to age, gender, comorbidity, subtype of pervasive developmental disorder (PDD) and risk factors. Recent studies have suggested disparate clinical and genetic settings depending on simplex or multiplex autism. The aim of this study was to assess: 1) the prevalence of epilepsy in multiplex autism and its association with genetic and non-genetic risk factors of major effect, intellectual disability and gender; and 2) whether autism and epilepsy cosegregate within multiplex autism families. We extracted from the Autism Genetic Resource Exchange (AGRE) database (n=3,818 children from 1,264 families) all families with relevant medical data (n=664 children from 290 families). The sample included 478 children with ASD and 186 siblings without ASD. We analyzed the following variables: seizures, genetic and non-genetic risk factors, gender, and cognitive functioning as assessed by Raven's Colored Progressive Matrices (RCPM) and Vineland Adaptive Behavior Scales (VABS). The prevalence of epilepsy was 12.8% in cases with ASD and 2.2% in siblings without ASD (P 10-5). With each RCPM or VABS measure, the risk of epilepsy in multiplex autism was significantly associated with intellectual disability, but not with gender. Identified risk factors (genetic or non-genetic) of autism tended to be significantly associated with epilepsy (P=0.052). When children with prematurity, pre- or perinatal insult, or cerebral palsy were excluded, a genetic risk factor was reported for 6/59 (10.2%) of children with epilepsy and 12/395 (3.0%) of children without epilepsy (P=0.002). Finally, using a permutation test, there was significant evidence that the epilepsy phenotype co-segregated within families (P 10-4). Epilepsy in multiplex autism may define a different subgroup in terms of clinical characteristics and genetic risk. En ligne : http://dx.doi.org/10.1186/2040-2392-4-47 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227

How children with autism spectrum disorder behave and explore the 4-dimensional (spatial 3D#xa0;+#xa0;time) environment during a joint attention induction task with a robot / Salvatore Maria ANZALONE in Research in Autism Spectrum Disorders, 8-7 (July 2014)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 8-7 (July 2014) . - p.814-826 Titre : How children with autism spectrum disorder behave and explore the 4-dimensional (spatial 3D#xa0;+#xa0;time) environment during a joint attention induction task with a robot Type de document : Texte imprimé et/ou numérique Auteurs : Salvatore Maria ANZALONE, Auteur ; Elodie TILMONT, Auteur ; Sofiane BOUCENNA, Auteur ; Jean XAVIER, Auteur ; Anne-Lise JOUEN, Auteur ; Nicolas BODEAU, Auteur ; Koushik MAHARATNA, Auteur ; Mohamed CHETOUANI, Auteur ; David COHEN, Auteur Article en page(s) : p.814-826 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Development  Social engagement  Joint attention  Social robots Index. décimale : PER Périodiques Résumé : Abstract We aimed to compare, during a joint attention (JA) elicitation task, how children with autism spectrum disorder (ASD) and children with typical development (TD) behave and explore their 4 dimensional (meaning spatial 3D + time) when interacting with a human or with a robotic agent. We built a system that employed a Nao robot and a perception system based on a RGB-D sensor (Kinect) to capture social engagement cues. A JA induction experiment was performed in which children with ASD (N = 16) and matched TD children (N = 16) had a 3-min interaction with the robot or with a therapist. Nao induced JA by gazing; by gazing and pointing; and by gazing, pointing and vocalizing at pictures. Both groups of children performed well with the therapist. However, with Nao, both groups had lower JA scores, and the children with ASD had a significantly lower score than the TD children. We found that (i) multimodal JA induction was more efficient in both groups; (ii) the 3D spatial world gaze exploration showed less accuracy; and (iii) the trunk position in ASD showed less stability in the 4 dimensions compared to TD controls. We conclude that, in ASD, JA skill depends on the interaction partner, and implies a higher motor and cognitive cost. En ligne : http://dx.doi.org/10.1016/j.rasd.2014.03.002 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=233 [article] How children with autism spectrum disorder behave and explore the 4-dimensional (spatial 3D#xa0;+#xa0;time) environment during a joint attention induction task with a robot [Texte imprimé et/ou numérique] / Salvatore Maria ANZALONE, Auteur ; Elodie TILMONT, Auteur ; Sofiane BOUCENNA, Auteur ; Jean XAVIER, Auteur ; Anne-Lise JOUEN, Auteur ; Nicolas BODEAU, Auteur ; Koushik MAHARATNA, Auteur ; Mohamed CHETOUANI, Auteur ; David COHEN, Auteur . - p.814-826. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 8-7 (July 2014) . - p.814-826 Mots-clés : Autism spectrum disorder  Development  Social engagement  Joint attention  Social robots Index. décimale : PER Périodiques Résumé : Abstract We aimed to compare, during a joint attention (JA) elicitation task, how children with autism spectrum disorder (ASD) and children with typical development (TD) behave and explore their 4 dimensional (meaning spatial 3D + time) when interacting with a human or with a robotic agent. We built a system that employed a Nao robot and a perception system based on a RGB-D sensor (Kinect) to capture social engagement cues. A JA induction experiment was performed in which children with ASD (N = 16) and matched TD children (N = 16) had a 3-min interaction with the robot or with a therapist. Nao induced JA by gazing; by gazing and pointing; and by gazing, pointing and vocalizing at pictures. Both groups of children performed well with the therapist. However, with Nao, both groups had lower JA scores, and the children with ASD had a significantly lower score than the TD children. We found that (i) multimodal JA induction was more efficient in both groups; (ii) the 3D spatial world gaze exploration showed less accuracy; and (iii) the trunk position in ASD showed less stability in the 4 dimensions compared to TD controls. We conclude that, in ASD, JA skill depends on the interaction partner, and implies a higher motor and cognitive cost. En ligne : http://dx.doi.org/10.1016/j.rasd.2014.03.002 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=233

Is Pervasive Developmental Disorder Not Otherwise Specified Less Stable Than Autistic Disorder? A Meta-Analysis / Emélie RONDEAU in Journal of Autism and Developmental Disorders, 41-9 (September 2011)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 41-9 (September 2011) . - p.1267-1276 Titre : Is Pervasive Developmental Disorder Not Otherwise Specified Less Stable Than Autistic Disorder? A Meta-Analysis Type de document : Texte imprimé et/ou numérique Auteurs : Emélie RONDEAU, Auteur ; Leslie S. KLEIN, Auteur ; André MASSE, Auteur ; Nicolas BODEAU, Auteur ; David COHEN, Auteur ; Jean-Marc GUILE, Auteur Année de publication : 2011 Article en page(s) : p.1267-1276 Langues : Anglais (eng) Mots-clés : Validity  Diagnosis  Autistic disorder  Pervasive developmental disorder  Autism  Meta-analysis Index. décimale : PER Périodiques Résumé : We reviewed the stability of the diagnosis of pervasive developmental disorder not otherwise specified (PDD-NOS). A Medline search found eight studies reiterating a diagnostic assessment for PDD-NOS. The pooled group included 322 autistic disorder (AD) and 122 PDD-NOS cases. We used percentage of individuals with same diagnose at Times 1 and 2 as response criterion. The pooled Relative Risk was 1.95 (p < 0.001) showing that AD diagnostic stability was higher than PDD-NOS. When diagnosed before 36 months PDD-NOS bore a 3-year stability rate of 35%. Examining the developmental trajectories showed that PDD-NOS corresponded to a group of heterogeneous pathological conditions including prodromic forms of later AD, remitted or less severe forms of AD, and developmental delays in interaction and communication. En ligne : http://dx.doi.org/10.1007/s10803-010-1155-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=142 [article] Is Pervasive Developmental Disorder Not Otherwise Specified Less Stable Than Autistic Disorder? A Meta-Analysis [Texte imprimé et/ou numérique] / Emélie RONDEAU, Auteur ; Leslie S. KLEIN, Auteur ; André MASSE, Auteur ; Nicolas BODEAU, Auteur ; David COHEN, Auteur ; Jean-Marc GUILE, Auteur . - 2011 . - p.1267-1276. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 41-9 (September 2011) . - p.1267-1276 Mots-clés : Validity  Diagnosis  Autistic disorder  Pervasive developmental disorder  Autism  Meta-analysis Index. décimale : PER Périodiques Résumé : We reviewed the stability of the diagnosis of pervasive developmental disorder not otherwise specified (PDD-NOS). A Medline search found eight studies reiterating a diagnostic assessment for PDD-NOS. The pooled group included 322 autistic disorder (AD) and 122 PDD-NOS cases. We used percentage of individuals with same diagnose at Times 1 and 2 as response criterion. The pooled Relative Risk was 1.95 (p < 0.001) showing that AD diagnostic stability was higher than PDD-NOS. When diagnosed before 36 months PDD-NOS bore a 3-year stability rate of 35%. Examining the developmental trajectories showed that PDD-NOS corresponded to a group of heterogeneous pathological conditions including prodromic forms of later AD, remitted or less severe forms of AD, and developmental delays in interaction and communication. En ligne : http://dx.doi.org/10.1007/s10803-010-1155-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=142

Risperidone or aripiprazole in children and adolescents with autism and/or intellectual disability: A Bayesian meta-analysis of efficacy and secondary effects / David COHEN in Research in Autism Spectrum Disorders, 7-1 (January 2013)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 7-1 (January 2013) . - p.167-75 Titre : Risperidone or aripiprazole in children and adolescents with autism and/or intellectual disability: A Bayesian meta-analysis of efficacy and secondary effects Type de document : Texte imprimé et/ou numérique Auteurs : David COHEN, Auteur ; Marie RAFFIN, Auteur ; Roberto CANITANO, Auteur ; Nicolas BODEAU, Auteur ; Olivier BONNOT, Auteur ; Didier PERISSE, Auteur ; Angèle CONSOLI, Auteur ; Claudine LAURENT, Auteur Année de publication : 2013 Article en page(s) : p.167-75 Langues : Anglais (eng) Mots-clés : Second generation antipsychotics  Childhood  Adolescence  AutismIntellectual disability  Adverse effects  Meta-analysis Index. décimale : PER Périodiques Résumé : Second-generation antipsychotics (SGAs) induce frequent adverse effects in children and adolescents with each compound appearing to have a specific adverse effect profile. Aripiprazole and risperidone are FDA-approved medications for behavioral disturbances associated with autism and/or intellectual disabilities (ID) in children and adolescents. Using Bayesian meta-analysis of all relevant studies (N = 8; 18 arms; 782 patients), we aimed to calculate odds ratios (OR) or mean average effects to assess efficacy, weight gain, metabolic changes, sedation, and extra-pyramidal syndrome (EPS) of the two compounds. Reporting was incomplete to assess metabolic changes. Compared to placebo, significant treatment-related increases were observed for: CGI response with aripiprazole (OR = 6.09, 95% credible interval [2.3–12.63]) and risperidone (12.8 [5.57–27.33]); weight gain with aripiprazole (OR = 6.28 [1.64–17.12]) and risperidone (7.76 [1.88–25.2]); EPS with risperidone (OR = 3.72 [1.73–7.22]); and somnolence/sedation with aripiprazole (OR = 25.76 [1.29–112.3]) and risperidone (9.63 [3.52–22.79]). There were no significant differences between active compounds. We conclude that short term efficacy of risperidone and aripiprazole are similar for behavioral disturbances associated with autism and/or ID, and that secondary effects are frequent. More research should be conducted on metabolic changes as current literature is lacking compared to other indications in youths. En ligne : http://dx.doi.org/10.1016/j.rasd.2012.08.001 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=180 [article] Risperidone or aripiprazole in children and adolescents with autism and/or intellectual disability: A Bayesian meta-analysis of efficacy and secondary effects [Texte imprimé et/ou numérique] / David COHEN, Auteur ; Marie RAFFIN, Auteur ; Roberto CANITANO, Auteur ; Nicolas BODEAU, Auteur ; Olivier BONNOT, Auteur ; Didier PERISSE, Auteur ; Angèle CONSOLI, Auteur ; Claudine LAURENT, Auteur . - 2013 . - p.167-75. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 7-1 (January 2013) . - p.167-75 Mots-clés : Second generation antipsychotics  Childhood  Adolescence  AutismIntellectual disability  Adverse effects  Meta-analysis Index. décimale : PER Périodiques Résumé : Second-generation antipsychotics (SGAs) induce frequent adverse effects in children and adolescents with each compound appearing to have a specific adverse effect profile. Aripiprazole and risperidone are FDA-approved medications for behavioral disturbances associated with autism and/or intellectual disabilities (ID) in children and adolescents. Using Bayesian meta-analysis of all relevant studies (N = 8; 18 arms; 782 patients), we aimed to calculate odds ratios (OR) or mean average effects to assess efficacy, weight gain, metabolic changes, sedation, and extra-pyramidal syndrome (EPS) of the two compounds. Reporting was incomplete to assess metabolic changes. Compared to placebo, significant treatment-related increases were observed for: CGI response with aripiprazole (OR = 6.09, 95% credible interval [2.3–12.63]) and risperidone (12.8 [5.57–27.33]); weight gain with aripiprazole (OR = 6.28 [1.64–17.12]) and risperidone (7.76 [1.88–25.2]); EPS with risperidone (OR = 3.72 [1.73–7.22]); and somnolence/sedation with aripiprazole (OR = 25.76 [1.29–112.3]) and risperidone (9.63 [3.52–22.79]). There were no significant differences between active compounds. We conclude that short term efficacy of risperidone and aripiprazole are similar for behavioral disturbances associated with autism and/or ID, and that secondary effects are frequent. More research should be conducted on metabolic changes as current literature is lacking compared to other indications in youths. En ligne : http://dx.doi.org/10.1016/j.rasd.2012.08.001 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=180

Very early signs of autism reported by parents include many concerns not specific to autism criteria / Vincent GUINCHAT in Research in Autism Spectrum Disorders, 6-2 (April-June 2012)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 6-2 (April-June 2012) . - p.589-601 Titre : Very early signs of autism reported by parents include many concerns not specific to autism criteria Type de document : Texte imprimé et/ou numérique Auteurs : Vincent GUINCHAT, Auteur ; Brigitte CHAMAK, Auteur ; Béatrice BONNIAU, Auteur ; Nicolas BODEAU, Auteur ; Didier PERISSE, Auteur ; David COHEN, Auteur ; Anne DANION-GRILLIAT, Auteur Année de publication : 2012 Article en page(s) : p.589-601 Langues : Anglais (eng) Mots-clés : Early diagnosis  Autism  Parents’ first concerns  Questionnaire  France Index. décimale : PER Périodiques Résumé : This study assessed parents’ first concerns about their autistic child. This information was categorized so that it could help healthcare professionals improve early detection of autism. We designed a questionnaire using an open-ended format, and 459 questionnaires were completed by parents to assess difficulties encountered in obtaining a diagnosis for their child. Answers about their first motive of concerns were categorized and compared with regards to age, gender, birth order, age of onset, delay in seeking professional advice, and delay in diagnosis. Concerns about social development or autistic behaviors were frequent, but not exclusive. Parents were divided into three clusters of concerns: (a) an “early awareness group”: which included motor problems and passivity (14.6 months); (b) “intermediate awareness group”: included emotional, hyperactivity, and sleep problems (15.3 months); and (c) a “later awareness group”: which included communication problems, poor social interaction, and autistic-type behaviors (22.3 months). Parents who noticed general concerns not specific to autism were worried earlier, but received a later diagnosis. We suggest that motor problems, and/or emotional problems, and/or the level of a child's activity should encourage frontline professionals to seek autistic symptoms in infants. En ligne : http://dx.doi.org/10.1016/j.rasd.2011.10.005 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=150 [article] Very early signs of autism reported by parents include many concerns not specific to autism criteria [Texte imprimé et/ou numérique] / Vincent GUINCHAT, Auteur ; Brigitte CHAMAK, Auteur ; Béatrice BONNIAU, Auteur ; Nicolas BODEAU, Auteur ; Didier PERISSE, Auteur ; David COHEN, Auteur ; Anne DANION-GRILLIAT, Auteur . - 2012 . - p.589-601. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 6-2 (April-June 2012) . - p.589-601 Mots-clés : Early diagnosis  Autism  Parents’ first concerns  Questionnaire  France Index. décimale : PER Périodiques Résumé : This study assessed parents’ first concerns about their autistic child. This information was categorized so that it could help healthcare professionals improve early detection of autism. We designed a questionnaire using an open-ended format, and 459 questionnaires were completed by parents to assess difficulties encountered in obtaining a diagnosis for their child. Answers about their first motive of concerns were categorized and compared with regards to age, gender, birth order, age of onset, delay in seeking professional advice, and delay in diagnosis. Concerns about social development or autistic behaviors were frequent, but not exclusive. Parents were divided into three clusters of concerns: (a) an “early awareness group”: which included motor problems and passivity (14.6 months); (b) “intermediate awareness group”: included emotional, hyperactivity, and sleep problems (15.3 months); and (c) a “later awareness group”: which included communication problems, poor social interaction, and autistic-type behaviors (22.3 months). Parents who noticed general concerns not specific to autism were worried earlier, but received a later diagnosis. We suggest that motor problems, and/or emotional problems, and/or the level of a child's activity should encourage frontline professionals to seek autistic symptoms in infants. En ligne : http://dx.doi.org/10.1016/j.rasd.2011.10.005 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=150

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