Dépouillements

Prosodic Development in Middle Childhood and Adolescence in High-Functioning Autism / Megan LYONS in Autism Research, 7-2 (April 2014)  

Public ISBD [article]  inAutism Research > 7-2 (April 2014) . - p.181-196 Titre : Prosodic Development in Middle Childhood and Adolescence in High-Functioning Autism Type de document : Texte imprimé et/ou numérique Auteurs : Megan LYONS, Auteur ; Elizabeth SCHOEN SIMMONS, Auteur ; Rhea PAUL, Auteur Article en page(s) : p.181-196 Mots-clés : autism  prosody  language  perception  production Index. décimale : PER Périodiques Résumé : The present study aims to investigate the perception and production of several domains of prosodic performance in a cross-sectional sample of preadolescents and adolescents with and without high-functioning autism (HFA). To look at the role of language abilities on prosodic performance, the HFA groups were subdivided based on “high” and “low” language performance on the Clinical Evaluation of Language Fundamentals-Fourth Edition (CELF-4) (Semel, Wiig, Secord). Social and cognitive abilities were also examined to determine their relationship to prosodic performance. No significant differences were seen in prosody scores in the younger versus older subgroups in typically developing (TD) group with age-appropriate language. There was small but significant improvement in performance with age in the groups with HFA. Comparing performance at each age level across diagnostic groups showed that preteens with HFA and higher language levels perform similarly to their TD peers on all prosodic tasks, whereas those with lower language skills scored significantly worse than both their higher language and TD peers when looking at composite perception and production findings. Teens with HFA showed no deficits on perception tasks; however, those with low language levels had difficulty on several production tasks when compared to the TD group. Regression analyses suggested that, for the preteen group with HFA, language was the strongest predictor of prosodic perception, whereas nonverbal IQ was most highly predictive of prosodic production. For adolescents with HFA, social skills significantly contributed to the prediction of prosodic perception and, along with language abilities, predicted prosodic production. Implications of these findings will be discussed. En ligne : http://dx.doi.org/10.1002/aur.1355 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230 [article] Prosodic Development in Middle Childhood and Adolescence in High-Functioning Autism [Texte imprimé et/ou numérique] / Megan LYONS, Auteur ; Elizabeth SCHOEN SIMMONS, Auteur ; Rhea PAUL, Auteur . - p.181-196. in Autism Research > 7-2 (April 2014) . - p.181-196 Mots-clés : autism  prosody  language  perception  production Index. décimale : PER Périodiques Résumé : The present study aims to investigate the perception and production of several domains of prosodic performance in a cross-sectional sample of preadolescents and adolescents with and without high-functioning autism (HFA). To look at the role of language abilities on prosodic performance, the HFA groups were subdivided based on “high” and “low” language performance on the Clinical Evaluation of Language Fundamentals-Fourth Edition (CELF-4) (Semel, Wiig, Secord). Social and cognitive abilities were also examined to determine their relationship to prosodic performance. No significant differences were seen in prosody scores in the younger versus older subgroups in typically developing (TD) group with age-appropriate language. There was small but significant improvement in performance with age in the groups with HFA. Comparing performance at each age level across diagnostic groups showed that preteens with HFA and higher language levels perform similarly to their TD peers on all prosodic tasks, whereas those with lower language skills scored significantly worse than both their higher language and TD peers when looking at composite perception and production findings. Teens with HFA showed no deficits on perception tasks; however, those with low language levels had difficulty on several production tasks when compared to the TD group. Regression analyses suggested that, for the preteen group with HFA, language was the strongest predictor of prosodic perception, whereas nonverbal IQ was most highly predictive of prosodic production. For adolescents with HFA, social skills significantly contributed to the prediction of prosodic perception and, along with language abilities, predicted prosodic production. Implications of these findings will be discussed. En ligne : http://dx.doi.org/10.1002/aur.1355 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230

Exploring the Role of Neural Mirroring in Children with Autism Spectrum Disorder / Lieselot RUYSSCHAERT in Autism Research, 7-2 (April 2014)  

Public ISBD [article]  inAutism Research > 7-2 (April 2014) . - p.197-206 Titre : Exploring the Role of Neural Mirroring in Children with Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Lieselot RUYSSCHAERT, Auteur ; Petra WARREYN, Auteur ; Jan R. WIERSEMA, Auteur ; Ann OOSTRA, Auteur ; Herbert ROEYERS, Auteur Article en page(s) : p.197-206 Mots-clés : mirror neurons  ASD  mu suppression  EEG  children Index. décimale : PER Périodiques Résumé : Investigating the underlying neural mechanisms of autism spectrum disorder (ASD) has recently been influenced by the discovery of mirror neurons. These neurons, active during both observation and execution of actions, are thought to play a crucial role in imitation and other social-communicative skills that are often impaired in ASD. In the current electroencephalographic study, we investigated mu suppression, indicating neural mirroring in children with ASD between the ages of 24 and 48 months and age-matched typically developing children, during observation of goal-directed actions and non-goal-directed mimicked hand movements, as well as during action execution. Results revealed no significant group differences with significant central mu suppression in the ASD children and control children during both execution and observation of goal-directed actions and during observation of hand movements. Furthermore, no significant correlations between mu suppression on one hand and quality of imitation, age, and social communication questionnaire scores on the other hand were found. These findings challenge the “broken mirror” hypothesis of ASD, suggesting that impaired neural mirroring is not a distinctive feature of ASD. Autism Res 2014, 7: 197– 206. © 2014 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1339 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230 [article] Exploring the Role of Neural Mirroring in Children with Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Lieselot RUYSSCHAERT, Auteur ; Petra WARREYN, Auteur ; Jan R. WIERSEMA, Auteur ; Ann OOSTRA, Auteur ; Herbert ROEYERS, Auteur . - p.197-206. in Autism Research > 7-2 (April 2014) . - p.197-206 Mots-clés : mirror neurons  ASD  mu suppression  EEG  children Index. décimale : PER Périodiques Résumé : Investigating the underlying neural mechanisms of autism spectrum disorder (ASD) has recently been influenced by the discovery of mirror neurons. These neurons, active during both observation and execution of actions, are thought to play a crucial role in imitation and other social-communicative skills that are often impaired in ASD. In the current electroencephalographic study, we investigated mu suppression, indicating neural mirroring in children with ASD between the ages of 24 and 48 months and age-matched typically developing children, during observation of goal-directed actions and non-goal-directed mimicked hand movements, as well as during action execution. Results revealed no significant group differences with significant central mu suppression in the ASD children and control children during both execution and observation of goal-directed actions and during observation of hand movements. Furthermore, no significant correlations between mu suppression on one hand and quality of imitation, age, and social communication questionnaire scores on the other hand were found. These findings challenge the “broken mirror” hypothesis of ASD, suggesting that impaired neural mirroring is not a distinctive feature of ASD. Autism Res 2014, 7: 197– 206. © 2014 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1339 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230

Two to Ten Years: Developmental Trajectories of Joint Attention in Children With ASD Who Received Targeted Social Communication Interventions / Amanda C. GULSRUD in Autism Research, 7-2 (April 2014)  

Public ISBD [article]  inAutism Research > 7-2 (April 2014) . - p.207-215 Titre : Two to Ten Years: Developmental Trajectories of Joint Attention in Children With ASD Who Received Targeted Social Communication Interventions Type de document : Texte imprimé et/ou numérique Auteurs : Amanda C. GULSRUD, Auteur ; Gerhard S. HELLEMANN, Auteur ; Stephanny FREEMAN, Auteur ; Connie KASARI, Auteur Article en page(s) : p.207-215 Mots-clés : early intervention  social communication  joint attention  longitudinal Index. décimale : PER Périodiques Résumé : This study follows 40 children who were participants in a randomized controlled early intervention trial (Kasari et?al.) from early childhood (2–5 years of age) to elementary school age (8–10 years). To fully utilize the available longitudinal data, the general linear mixed model was the primary analytical approach. The growth trajectories of joint attention skills (pointing, coordinated joint looking, and showing) and expressive language outcomes in these children were estimated based on five time points during the measurement period. The children were grouped by diagnosis at the last follow-up (autism, autism spectrum disorder (ASD), no diagnosis) and by their original treatment group assignment (joint attention, symbolic play, control), and differences between these groups were evaluated. Results showed that joint attention skills of coordinated joint looking and showing increased over time, and pointing to share interest increased over the first year measured and decreased thereafter. These trajectories were influenced by both original treatment assignment and diagnostic status at follow-up. In addition, a cross-lagged panel analysis revealed a causal relationship between early pointing and later language development. This study highlights the longitudinal and developmental importance of measures of early core deficits in autism, and suggests that both treatment and ASD symptomatology may influence growth in these skills over time. En ligne : http://dx.doi.org/10.1002/aur.1360 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230 [article] Two to Ten Years: Developmental Trajectories of Joint Attention in Children With ASD Who Received Targeted Social Communication Interventions [Texte imprimé et/ou numérique] / Amanda C. GULSRUD, Auteur ; Gerhard S. HELLEMANN, Auteur ; Stephanny FREEMAN, Auteur ; Connie KASARI, Auteur . - p.207-215. in Autism Research > 7-2 (April 2014) . - p.207-215 Mots-clés : early intervention  social communication  joint attention  longitudinal Index. décimale : PER Périodiques Résumé : This study follows 40 children who were participants in a randomized controlled early intervention trial (Kasari et?al.) from early childhood (2–5 years of age) to elementary school age (8–10 years). To fully utilize the available longitudinal data, the general linear mixed model was the primary analytical approach. The growth trajectories of joint attention skills (pointing, coordinated joint looking, and showing) and expressive language outcomes in these children were estimated based on five time points during the measurement period. The children were grouped by diagnosis at the last follow-up (autism, autism spectrum disorder (ASD), no diagnosis) and by their original treatment group assignment (joint attention, symbolic play, control), and differences between these groups were evaluated. Results showed that joint attention skills of coordinated joint looking and showing increased over time, and pointing to share interest increased over the first year measured and decreased thereafter. These trajectories were influenced by both original treatment assignment and diagnostic status at follow-up. In addition, a cross-lagged panel analysis revealed a causal relationship between early pointing and later language development. This study highlights the longitudinal and developmental importance of measures of early core deficits in autism, and suggests that both treatment and ASD symptomatology may influence growth in these skills over time. En ligne : http://dx.doi.org/10.1002/aur.1360 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230

The Association Between Social Cognition and Executive Functioning and Symptoms of Anxiety and Depression in Adolescents With Autism Spectrum Disorders / Matthew J. HOLLOCKS in Autism Research, 7-2 (April 2014)  

Public ISBD [article]  inAutism Research > 7-2 (April 2014) . - p.216-228 Titre : The Association Between Social Cognition and Executive Functioning and Symptoms of Anxiety and Depression in Adolescents With Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Matthew J. HOLLOCKS, Auteur ; Catherine R. G. JONES, Auteur ; Andrew PICKLES, Auteur ; Gillian BAIRD, Auteur ; Francesca HAPPE, Auteur ; Tony CHARMAN, Auteur ; Emily SIMONOFF, Auteur Article en page(s) : p.216-228 Mots-clés : anxiety  ASD  depression  executive functions  social cognition  neuropsychology Index. décimale : PER Périodiques Résumé : While high levels of anxiety and depression are now recognized as major co-occurring problems in children and young people with an autism spectrum disorder (ASD), research examining possible associations with individual differences in neurocognitive functioning has been limited. This study included 90 adolescents with an ASD aged 14–16 years with a full-scale IQ ?50. Using structural equation modeling, we examined the independent relationships between multiple measures of executive functioning and social cognition on severity of anxiety or depressive symptoms. Results indicated a significant association between poorer executive functioning and higher levels of anxiety, but not depression. In contrast, social cognition ability was not associated with either anxiety or depression. This study is the first to report significant associations between executive functions and anxiety in ASD. This may suggest that poor executive functioning is one factor associated with the high prevalence of anxiety disorder in children and adolescents with ASD. En ligne : http://dx.doi.org/10.1002/aur.1361 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230 [article] The Association Between Social Cognition and Executive Functioning and Symptoms of Anxiety and Depression in Adolescents With Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Matthew J. HOLLOCKS, Auteur ; Catherine R. G. JONES, Auteur ; Andrew PICKLES, Auteur ; Gillian BAIRD, Auteur ; Francesca HAPPE, Auteur ; Tony CHARMAN, Auteur ; Emily SIMONOFF, Auteur . - p.216-228. in Autism Research > 7-2 (April 2014) . - p.216-228 Mots-clés : anxiety  ASD  depression  executive functions  social cognition  neuropsychology Index. décimale : PER Périodiques Résumé : While high levels of anxiety and depression are now recognized as major co-occurring problems in children and young people with an autism spectrum disorder (ASD), research examining possible associations with individual differences in neurocognitive functioning has been limited. This study included 90 adolescents with an ASD aged 14–16 years with a full-scale IQ ?50. Using structural equation modeling, we examined the independent relationships between multiple measures of executive functioning and social cognition on severity of anxiety or depressive symptoms. Results indicated a significant association between poorer executive functioning and higher levels of anxiety, but not depression. In contrast, social cognition ability was not associated with either anxiety or depression. This study is the first to report significant associations between executive functions and anxiety in ASD. This may suggest that poor executive functioning is one factor associated with the high prevalence of anxiety disorder in children and adolescents with ASD. En ligne : http://dx.doi.org/10.1002/aur.1361 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230

Age-Related Changes in Conjunctive Visual Search in Children with and without ASD / Grace IAROCCI in Autism Research, 7-2 (April 2014)  

Public ISBD [article]  inAutism Research > 7-2 (April 2014) . - p.229-236 Titre : Age-Related Changes in Conjunctive Visual Search in Children with and without ASD Type de document : Texte imprimé et/ou numérique Auteurs : Grace IAROCCI, Auteur ; Kimberly ARMSTRONG, Auteur Article en page(s) : p.229-236 Mots-clés : attention  visual search  development  perception Index. décimale : PER Périodiques Résumé : Visual-spatial strengths observed among people with autism spectrum disorder (ASD) may be associated with increased efficiency of selective attention mechanisms such as visual search. In a series of studies, researchers examined the visual search of targets that share features with distractors in a visual array and concluded that people with ASD showed enhanced performance on visual search tasks. However, methodological limitations, the small sample sizes, and the lack of developmental analysis have tempered the interpretations of these results. In this study, we specifically addressed age-related changes in visual search. We examined conjunctive visual search in groups of children with (n?=?34) and without ASD (n?=?35) at 7–9 years of age when visual search performance is beginning to improve, and later, at 10–12 years, when performance has improved. The results were consistent with previous developmental findings; 10- to 12-year-old children were significantly faster visual searchers than their 7- to 9-year-old counterparts. However, we found no evidence of enhanced search performance among the children with ASD at either the younger or older ages. More research is needed to understand the development of visual search in both children with and without ASD. En ligne : http://dx.doi.org/10.1002/aur.1359 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230 [article] Age-Related Changes in Conjunctive Visual Search in Children with and without ASD [Texte imprimé et/ou numérique] / Grace IAROCCI, Auteur ; Kimberly ARMSTRONG, Auteur . - p.229-236. in Autism Research > 7-2 (April 2014) . - p.229-236 Mots-clés : attention  visual search  development  perception Index. décimale : PER Périodiques Résumé : Visual-spatial strengths observed among people with autism spectrum disorder (ASD) may be associated with increased efficiency of selective attention mechanisms such as visual search. In a series of studies, researchers examined the visual search of targets that share features with distractors in a visual array and concluded that people with ASD showed enhanced performance on visual search tasks. However, methodological limitations, the small sample sizes, and the lack of developmental analysis have tempered the interpretations of these results. In this study, we specifically addressed age-related changes in visual search. We examined conjunctive visual search in groups of children with (n?=?34) and without ASD (n?=?35) at 7–9 years of age when visual search performance is beginning to improve, and later, at 10–12 years, when performance has improved. The results were consistent with previous developmental findings; 10- to 12-year-old children were significantly faster visual searchers than their 7- to 9-year-old counterparts. However, we found no evidence of enhanced search performance among the children with ASD at either the younger or older ages. More research is needed to understand the development of visual search in both children with and without ASD. En ligne : http://dx.doi.org/10.1002/aur.1359 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230

Time Estimation Among Low-Functioning Individuals With Autism Spectrum Disorders: Evidence of Poor Sensitivity to Variability of Short Durations / Darlene A. BRODEUR in Autism Research, 7-2 (April 2014)  

Public ISBD [article]  inAutism Research > 7-2 (April 2014) . - p.237-244 Titre : Time Estimation Among Low-Functioning Individuals With Autism Spectrum Disorders: Evidence of Poor Sensitivity to Variability of Short Durations Type de document : Texte imprimé et/ou numérique Auteurs : Darlene A. BRODEUR, Auteur ; Cathryn GORDON-GREEN, Auteur ; Heidi FLORES, Auteur ; Jacob A. BURACK, Auteur Article en page(s) : p.237-244 Mots-clés : time  perception  autism spectrum disorder  low-functioning Index. décimale : PER Périodiques Résumé : Time estimation of short durations (under 1?sec) was examined in low-functioning individuals with autism spectrum disorder (ASD) and typically developing (TD) children matched on mental age. Temporal bisection and generalization tasks were used to examine basic perceptual timing mechanisms. For both tasks, the participants with ASD demonstrated less sensitivity to variability in short durations than the TD children, adding to a growing body of literature suggesting deficits in timing exist for longer durations. The results highlight the need to examine multiple levels of processing of time-related information from basic perceptual mechanisms to higher level cognitive mechanisms. En ligne : http://dx.doi.org/10.1002/aur.1364 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230 [article] Time Estimation Among Low-Functioning Individuals With Autism Spectrum Disorders: Evidence of Poor Sensitivity to Variability of Short Durations [Texte imprimé et/ou numérique] / Darlene A. BRODEUR, Auteur ; Cathryn GORDON-GREEN, Auteur ; Heidi FLORES, Auteur ; Jacob A. BURACK, Auteur . - p.237-244. in Autism Research > 7-2 (April 2014) . - p.237-244 Mots-clés : time  perception  autism spectrum disorder  low-functioning Index. décimale : PER Périodiques Résumé : Time estimation of short durations (under 1?sec) was examined in low-functioning individuals with autism spectrum disorder (ASD) and typically developing (TD) children matched on mental age. Temporal bisection and generalization tasks were used to examine basic perceptual timing mechanisms. For both tasks, the participants with ASD demonstrated less sensitivity to variability in short durations than the TD children, adding to a growing body of literature suggesting deficits in timing exist for longer durations. The results highlight the need to examine multiple levels of processing of time-related information from basic perceptual mechanisms to higher level cognitive mechanisms. En ligne : http://dx.doi.org/10.1002/aur.1364 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230

Investigation of Maternal Genotype Effects in Autism by Genome-Wide Association / Han YUAN in Autism Research, 7-2 (April 2014)  

Public ISBD [article]  inAutism Research > 7-2 (April 2014) . - p.245-253 Titre : Investigation of Maternal Genotype Effects in Autism by Genome-Wide Association Type de document : Texte imprimé et/ou numérique Auteurs : Han YUAN, Auteur ; Joseph D. DOUGHERTY, Auteur Article en page(s) : p.245-253 Mots-clés : maternal genotype effect  autism  GWAS  AGRE  SSC Index. décimale : PER Périodiques Résumé : Like most psychiatric disorders, autism spectrum disorders have both a genetic and an environmental component. While previous studies have clearly demonstrated the contribution of in utero (prenatal) environment on autism risk, most of them focused on transient environmental factors. Based on a recent sibling study, we hypothesized that environmental factors could also come from the maternal genome, which would result in persistent effects across siblings. In this study, the possibility of maternal genotype effects was examined by looking for common variants (single-nucleotide polymorphisms or SNPs) in the maternal genome associated with increased risk of autism in children. A case/control genome-wide association study was performed using mothers of probands as cases, and either fathers of probands or normal females as controls. Autism Genetic Resource Exchange and Illumina Genotype Control Database were used as our discovery cohort (n?=?1616). The same analysis was then replicated on Simon Simplex Collection and Study of Addiction: Genetics and Environment datasets (n?=?2732). We did not identify any SNP that reached genome-wide significance (P??10?8), and thus a common variant of large effect is unlikely. However, there was evidence for the possibility of a large number of alleles of effective size marginally below our power to detect. En ligne : http://dx.doi.org/10.1002/aur.1363 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230 [article] Investigation of Maternal Genotype Effects in Autism by Genome-Wide Association [Texte imprimé et/ou numérique] / Han YUAN, Auteur ; Joseph D. DOUGHERTY, Auteur . - p.245-253. in Autism Research > 7-2 (April 2014) . - p.245-253 Mots-clés : maternal genotype effect  autism  GWAS  AGRE  SSC Index. décimale : PER Périodiques Résumé : Like most psychiatric disorders, autism spectrum disorders have both a genetic and an environmental component. While previous studies have clearly demonstrated the contribution of in utero (prenatal) environment on autism risk, most of them focused on transient environmental factors. Based on a recent sibling study, we hypothesized that environmental factors could also come from the maternal genome, which would result in persistent effects across siblings. In this study, the possibility of maternal genotype effects was examined by looking for common variants (single-nucleotide polymorphisms or SNPs) in the maternal genome associated with increased risk of autism in children. A case/control genome-wide association study was performed using mothers of probands as cases, and either fathers of probands or normal females as controls. Autism Genetic Resource Exchange and Illumina Genotype Control Database were used as our discovery cohort (n?=?1616). The same analysis was then replicated on Simon Simplex Collection and Study of Addiction: Genetics and Environment datasets (n?=?2732). We did not identify any SNP that reached genome-wide significance (P??10?8), and thus a common variant of large effect is unlikely. However, there was evidence for the possibility of a large number of alleles of effective size marginally below our power to detect. En ligne : http://dx.doi.org/10.1002/aur.1363 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230

A Deletion Involving CD38 and BST1 Results in a Fusion Transcript in a Patient With Autism and Asthma / Fabiola CERONI in Autism Research, 7-2 (April 2014)  

Public ISBD [article]  inAutism Research > 7-2 (April 2014) . - p.254-263 Titre : A Deletion Involving CD38 and BST1 Results in a Fusion Transcript in a Patient With Autism and Asthma Type de document : Texte imprimé et/ou numérique Auteurs : Fabiola CERONI, Auteur ; Angela SAGAR, Auteur ; Nuala H. SIMPSON, Auteur ; Alex J. T. GAWTHROPE, Auteur ; Dianne F. NEWBURY, Auteur ; Dalila PINTO, Auteur ; Sunday M. FRANCIS, Auteur ; Dorothy C. TESSMAN, Auteur ; Edwin H. Jr COOK, Auteur ; Anthony P. MONACO, Auteur ; Elena MAESTRINI, Auteur ; Alistair T. PAGNAMENTA, Auteur ; Suma JACOB, Auteur Article en page(s) : p.254-263 Mots-clés : autism  CD38  oxytocin  CNV  fusion transcript Index. décimale : PER Périodiques Résumé : CD38 encodes a ligand in the oxytocin signaling pathway. Some single nucleotide polymorphisms in this gene have been associated with low serum oxytocin levels in autism spectrum disorder (ASD) patients. Oxytocin disruption has been hypothesized to account for features of ASD, including impaired communication and social behavior, based on animal studies. Recent human studies have shown administration of oxytocin improving emotion recognition, promoting social behavior, and improving auditory processing of social stimuli in ASD patients. In addition to its role in oxytocin signaling, CD38 is involved in the regulation of calcium concentration in airway smooth muscle with impairment of CD38 being implicated in airway diseases like asthma. While a number of studies have implicated rare chromosomal deletions and duplications in helping determine genetic risk for autism, there are to our knowledge no reports describing rearrangements involving CD38 or deletions in patients with ASD. Here, we present two sisters diagnosed with autism and with features of regression—previously acquired speech lost in the second year of life. The younger sister, who also had asthma, inherited a maternal deletion of 4p15.32 that results in a BST1-CD38 fusion transcript. Their mother's deletion was mosaic and she was not affected. Although further work is required to assess functional consequences of the fusion transcript, we hypothesize that the proband's deletion may have served as a risk factor for autism that, when combined with other susceptibility variants, resulted in a more severe presentation than her sister. En ligne : http://dx.doi.org/10.1002/aur.1365 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230 [article] A Deletion Involving CD38 and BST1 Results in a Fusion Transcript in a Patient With Autism and Asthma [Texte imprimé et/ou numérique] / Fabiola CERONI, Auteur ; Angela SAGAR, Auteur ; Nuala H. SIMPSON, Auteur ; Alex J. T. GAWTHROPE, Auteur ; Dianne F. NEWBURY, Auteur ; Dalila PINTO, Auteur ; Sunday M. FRANCIS, Auteur ; Dorothy C. TESSMAN, Auteur ; Edwin H. Jr COOK, Auteur ; Anthony P. MONACO, Auteur ; Elena MAESTRINI, Auteur ; Alistair T. PAGNAMENTA, Auteur ; Suma JACOB, Auteur . - p.254-263. in Autism Research > 7-2 (April 2014) . - p.254-263 Mots-clés : autism  CD38  oxytocin  CNV  fusion transcript Index. décimale : PER Périodiques Résumé : CD38 encodes a ligand in the oxytocin signaling pathway. Some single nucleotide polymorphisms in this gene have been associated with low serum oxytocin levels in autism spectrum disorder (ASD) patients. Oxytocin disruption has been hypothesized to account for features of ASD, including impaired communication and social behavior, based on animal studies. Recent human studies have shown administration of oxytocin improving emotion recognition, promoting social behavior, and improving auditory processing of social stimuli in ASD patients. In addition to its role in oxytocin signaling, CD38 is involved in the regulation of calcium concentration in airway smooth muscle with impairment of CD38 being implicated in airway diseases like asthma. While a number of studies have implicated rare chromosomal deletions and duplications in helping determine genetic risk for autism, there are to our knowledge no reports describing rearrangements involving CD38 or deletions in patients with ASD. Here, we present two sisters diagnosed with autism and with features of regression—previously acquired speech lost in the second year of life. The younger sister, who also had asthma, inherited a maternal deletion of 4p15.32 that results in a BST1-CD38 fusion transcript. Their mother's deletion was mosaic and she was not affected. Although further work is required to assess functional consequences of the fusion transcript, we hypothesize that the proband's deletion may have served as a risk factor for autism that, when combined with other susceptibility variants, resulted in a more severe presentation than her sister. En ligne : http://dx.doi.org/10.1002/aur.1365 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230

Autism-Related Neuroligin-3 Mutation Alters Social Behavior and Spatial Learning / Thomas C. JARAMILLO in Autism Research, 7-2 (April 2014)  

Public ISBD [article]  inAutism Research > 7-2 (April 2014) . - p.264-272 Titre : Autism-Related Neuroligin-3 Mutation Alters Social Behavior and Spatial Learning Type de document : Texte imprimé et/ou numérique Auteurs : Thomas C. JARAMILLO, Auteur ; Shunan LIU, Auteur ; Ami PETTERSEN, Auteur ; Shari G. BIRNBAUM, Auteur ; Craig M. POWELL, Auteur Article en page(s) : p.264-272 Mots-clés : animal models  behavioral analysis of animal models  intellectual disability  neuroligin  autism Index. décimale : PER Périodiques Résumé : Multiple candidate genes have been identified for autism spectrum disorders. While some of these genes reach genome-wide significance, others, such as the R451C point mutation in the synaptic cell adhesion molecule neuroligin-3, appear to be rare. Interestingly, two brothers with the same R451C point mutation in neuroligin-3 present clinically on seemingly disparate sides of the autism spectrum. These clinical findings suggest genetic background may play a role in modifying the penetrance of a particular autism-associated mutation. Animal models may contribute additional support for such mutations as functionally relevant and can provide mechanistic insights. Previously, in collaboration with the Südhof laboratory, we reported that mice with an R451C substitution in neuroligin-3 displayed social deficits and enhanced spatial learning. While some of these behavioral abnormalities have since been replicated independently in the Südhof laboratory, observations from the Crawley laboratory failed to replicate these findings in a similar neuroligin-3 mutant mouse model and suggested that genetic background may contribute to variation in observations across laboratories. Therefore, we sought to replicate our findings in the neuroligin-3 R451C point mutant knock-in mouse model (NL3R451C) in a different genetic background. We backcrossed our NL3R451C mouse line onto a 129S2/SvPasCrl genetic background and repeated a subset of our previous behavioral testing. NL3R451C mice on a 129S2/SvPasCrl displayed social deficits, enhanced spatial learning, and increased locomotor activity. These data extend our previous findings that NL3R451C mice exhibit autism-relevant behavioral abnormalities and further suggest that different genetic backgrounds can modify this behavioral phenotype through epistatic genetic interactions. En ligne : http://dx.doi.org/10.1002/aur.1362 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230 [article] Autism-Related Neuroligin-3 Mutation Alters Social Behavior and Spatial Learning [Texte imprimé et/ou numérique] / Thomas C. JARAMILLO, Auteur ; Shunan LIU, Auteur ; Ami PETTERSEN, Auteur ; Shari G. BIRNBAUM, Auteur ; Craig M. POWELL, Auteur . - p.264-272. in Autism Research > 7-2 (April 2014) . - p.264-272 Mots-clés : animal models  behavioral analysis of animal models  intellectual disability  neuroligin  autism Index. décimale : PER Périodiques Résumé : Multiple candidate genes have been identified for autism spectrum disorders. While some of these genes reach genome-wide significance, others, such as the R451C point mutation in the synaptic cell adhesion molecule neuroligin-3, appear to be rare. Interestingly, two brothers with the same R451C point mutation in neuroligin-3 present clinically on seemingly disparate sides of the autism spectrum. These clinical findings suggest genetic background may play a role in modifying the penetrance of a particular autism-associated mutation. Animal models may contribute additional support for such mutations as functionally relevant and can provide mechanistic insights. Previously, in collaboration with the Südhof laboratory, we reported that mice with an R451C substitution in neuroligin-3 displayed social deficits and enhanced spatial learning. While some of these behavioral abnormalities have since been replicated independently in the Südhof laboratory, observations from the Crawley laboratory failed to replicate these findings in a similar neuroligin-3 mutant mouse model and suggested that genetic background may contribute to variation in observations across laboratories. Therefore, we sought to replicate our findings in the neuroligin-3 R451C point mutant knock-in mouse model (NL3R451C) in a different genetic background. We backcrossed our NL3R451C mouse line onto a 129S2/SvPasCrl genetic background and repeated a subset of our previous behavioral testing. NL3R451C mice on a 129S2/SvPasCrl displayed social deficits, enhanced spatial learning, and increased locomotor activity. These data extend our previous findings that NL3R451C mice exhibit autism-relevant behavioral abnormalities and further suggest that different genetic backgrounds can modify this behavioral phenotype through epistatic genetic interactions. En ligne : http://dx.doi.org/10.1002/aur.1362 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230

Altered Peripheral and Central Inflammatory Responses in a Mouse Model of Autism / Luciana LUCCHINA in Autism Research, 7-2 (April 2014)  

Public ISBD [article]  inAutism Research > 7-2 (April 2014) . - p.273-289 Titre : Altered Peripheral and Central Inflammatory Responses in a Mouse Model of Autism Type de document : Texte imprimé et/ou numérique Auteurs : Luciana LUCCHINA, Auteur ; Amaicha Mara DEPINO, Auteur Article en page(s) : p.273-289 Mots-clés : valproic acid  cytokines  microglia  astroglia  hypothalamus–pituitary–adrenal axis  behavior Index. décimale : PER Périodiques Résumé : Increasing clinical and experimental evidence links immune and inflammatory alterations with the pathogenesis of autism spectrum disorders (ASD). Autistic individuals show signs of neuroinflammation, altered inflammatory responses, and immune abnormalities throughout life. Mice injected subcutaneously with 600?mg/kg valproic acid (VPA600) at gestational day 12.5 show reduced social interaction in adulthood (at 8 weeks of age), and they have been proposed as a mouse model of autism. Here, we show that these adult animals present signs of chronic glial activation in the hippocampus and the cerebellum. Moreover, when they are challenged with a peripheral inflammatory stimulus (intraperitoneal lipopolysaccharides, LPS), VPA600 animals show an exacerbated inflammatory response. Two hours after LPS injection, VPA600 animals secrete more corticosterone to the blood than control mice, and show an increase in the levels of expression of proinflammatory cytokines in the spleen. After LPS challenge, VPA600 mice also show signs of increased neuroinflammation compared with control mice: they have more microglial cells in the hippocampus, and they show higher levels of proinflammatory cytokines in the cerebellum. Our results provide evidence of basal neuroinflammation and an altered inflammatory response in the VPA model of autism. We propose that this model can be used to evaluate the contribution of inflammatory reactivity to autism-related behaviors. These studies will contribute to elucidate the role of the inflammatory alterations observed in ASD individuals. En ligne : http://dx.doi.org/10.1002/aur.1338 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230 [article] Altered Peripheral and Central Inflammatory Responses in a Mouse Model of Autism [Texte imprimé et/ou numérique] / Luciana LUCCHINA, Auteur ; Amaicha Mara DEPINO, Auteur . - p.273-289. in Autism Research > 7-2 (April 2014) . - p.273-289 Mots-clés : valproic acid  cytokines  microglia  astroglia  hypothalamus–pituitary–adrenal axis  behavior Index. décimale : PER Périodiques Résumé : Increasing clinical and experimental evidence links immune and inflammatory alterations with the pathogenesis of autism spectrum disorders (ASD). Autistic individuals show signs of neuroinflammation, altered inflammatory responses, and immune abnormalities throughout life. Mice injected subcutaneously with 600?mg/kg valproic acid (VPA600) at gestational day 12.5 show reduced social interaction in adulthood (at 8 weeks of age), and they have been proposed as a mouse model of autism. Here, we show that these adult animals present signs of chronic glial activation in the hippocampus and the cerebellum. Moreover, when they are challenged with a peripheral inflammatory stimulus (intraperitoneal lipopolysaccharides, LPS), VPA600 animals show an exacerbated inflammatory response. Two hours after LPS injection, VPA600 animals secrete more corticosterone to the blood than control mice, and show an increase in the levels of expression of proinflammatory cytokines in the spleen. After LPS challenge, VPA600 mice also show signs of increased neuroinflammation compared with control mice: they have more microglial cells in the hippocampus, and they show higher levels of proinflammatory cytokines in the cerebellum. Our results provide evidence of basal neuroinflammation and an altered inflammatory response in the VPA model of autism. We propose that this model can be used to evaluate the contribution of inflammatory reactivity to autism-related behaviors. These studies will contribute to elucidate the role of the inflammatory alterations observed in ASD individuals. En ligne : http://dx.doi.org/10.1002/aur.1338 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230

Scientific Summaries for Families With ASD in Autism Research, 7-2 (April 2014)  

Public ISBD [article]  inAutism Research > 7-2 (April 2014) . - p.290-293 Titre : Scientific Summaries for Families With ASD Type de document : Texte imprimé et/ou numérique Article en page(s) : p.290-293 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.1388 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230 [article] Scientific Summaries for Families With ASD [Texte imprimé et/ou numérique] . - p.290-293. in Autism Research > 7-2 (April 2014) . - p.290-293 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.1388 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230

International Society for Autism Research News in Autism Research, 7-2 (April 2014)  

Public ISBD [article]  inAutism Research > 7-2 (April 2014) . - p.294-294 Titre : International Society for Autism Research News Type de document : Texte imprimé et/ou numérique Article en page(s) : p.294-294 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.1389 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230 [article] International Society for Autism Research News [Texte imprimé et/ou numérique] . - p.294-294. in Autism Research > 7-2 (April 2014) . - p.294-294 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.1389 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230