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

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

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