Dépouillements

The role of every-day executive function in social impairment and adaptive skills in Autism Spectrum Disorder with intellectual disability / Stella TSERMENTSELI in Research in Autism Spectrum Disorders, 53 (September 2018)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 53 (September 2018) . - p.1-6 Titre : The role of every-day executive function in social impairment and adaptive skills in Autism Spectrum Disorder with intellectual disability Type de document : Texte imprimé et/ou numérique Auteurs : Stella TSERMENTSELI, Auteur ; Jeannette Farago TABARES, Auteur ; Evangelia Chrysanthi KOUKLARI, Auteur Article en page(s) : p.1-6 Langues : Anglais (eng) Mots-clés : ASD  Intellectual disability  Executive function  Adaptive functioning Index. décimale : PER Périodiques Résumé : Background Although executive function (EF) deficits are a recognised component of the cognitive phenotype of Autism Spectrum Disorder (ASD), particularly in children without general intellectual delay, little is known about ecological measures of EF and their outcome correlates among individuals with ASD and co-occurring intellectual disability. This exploratory study examined every-day EF in the classroom among children and adolescents diagnosed with both ASD and intellectual disability (ASD-ID) and their correlations with social impairment and adaptive functioning. Method Teachers of 40 children and adolescents diagnosed with ASD-ID completed the Behavior Rating Inventory of Executive Function, the Vineland Adaptive Behavior Scales, and the Social Responsiveness Scale. Results A global executive dysfunction profile was found in ASD-ID, with most prominent deficits occurring in shifting. Results also showed that metacognitive executive processes predicted adaptive communication skills above and beyond IQ and social impairment in ASD-ID. Conclusions Our findings corroborate a specific metacognitive executive function-adaptive communication association in ASD. EF interventions might be important treatment targets for improving functioning, especially in the communicative domain, in ASD-ID. En ligne : https://doi.org/10.1016/j.rasd.2018.05.006 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=368 [article] The role of every-day executive function in social impairment and adaptive skills in Autism Spectrum Disorder with intellectual disability [Texte imprimé et/ou numérique] / Stella TSERMENTSELI, Auteur ; Jeannette Farago TABARES, Auteur ; Evangelia Chrysanthi KOUKLARI, Auteur . - p.1-6. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 53 (September 2018) . - p.1-6 Mots-clés : ASD  Intellectual disability  Executive function  Adaptive functioning Index. décimale : PER Périodiques Résumé : Background Although executive function (EF) deficits are a recognised component of the cognitive phenotype of Autism Spectrum Disorder (ASD), particularly in children without general intellectual delay, little is known about ecological measures of EF and their outcome correlates among individuals with ASD and co-occurring intellectual disability. This exploratory study examined every-day EF in the classroom among children and adolescents diagnosed with both ASD and intellectual disability (ASD-ID) and their correlations with social impairment and adaptive functioning. Method Teachers of 40 children and adolescents diagnosed with ASD-ID completed the Behavior Rating Inventory of Executive Function, the Vineland Adaptive Behavior Scales, and the Social Responsiveness Scale. Results A global executive dysfunction profile was found in ASD-ID, with most prominent deficits occurring in shifting. Results also showed that metacognitive executive processes predicted adaptive communication skills above and beyond IQ and social impairment in ASD-ID. Conclusions Our findings corroborate a specific metacognitive executive function-adaptive communication association in ASD. EF interventions might be important treatment targets for improving functioning, especially in the communicative domain, in ASD-ID. En ligne : https://doi.org/10.1016/j.rasd.2018.05.006 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=368

Effects of written disclosure on psychophysiological stress among parents of children with autism: A randomized controlled pilot study / Nikko S. DA PAZ in Research in Autism Spectrum Disorders, 53 (September 2018)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 53 (September 2018) . - p.7-17 Titre : Effects of written disclosure on psychophysiological stress among parents of children with autism: A randomized controlled pilot study Type de document : Texte imprimé et/ou numérique Auteurs : Nikko S. DA PAZ, Auteur ; Jan L. WALLANDER, Auteur ; Jitske TIEMENSMA, Auteur Article en page(s) : p.7-17 Langues : Anglais (eng) Mots-clés : Autism spectrum disorders  Parent intervention  Caregiver stress  Written disclosure Index. décimale : PER Périodiques Résumé : Background In comparison to parents of typically functioning children or parents of children with other developmental disabilities (i.e. Down’s syndrome or cerebral palsy), parents or caregivers of children with an autism spectrum disorder (ASD) sustain a greater incidence of depression, anxiety, and emotional distress. It is imperative to identify effective methods that target improvement to caregiver mental health. Method A randomized controlled pilot study was conducted to investigate the effect of a written disclosure intervention (expressive writing about traumatic events versus neutral events) on the psychophysiological stress of 71 parents (age 23–62) caring for a child with ASD. Self-reported measures of stress (parenting stress, caregiver burden, and global stress) and a stress biomarker (cortisol awakening response) were evaluated at baseline and 6-month follow-up. Adjusting for baseline values, we performed a univariate analysis of covariance to test directional hypotheses that parents in the treatment group would show a reduction in subjective stress and improvement in physiological stress over time. Results As expected, treatment group parents displayed healthier cortisol activity and reported less global stress compared to controls. Whereas within group analyses indicated all parents experienced improvement in parenting stress and caregiver burden over time, there was no significant treatment effect for these caregiving-specific stress measures. Conclusions Within this pilot study, written disclosure appeared beneficial to caregiver psychophysiological stress. However, due to the provision of substantial participant adherence support, we refrain from suggesting feasibility. Nonetheless, improvement of mental health pathology in parents of children with ASD is both significant and timely. En ligne : https://doi.org/10.1016/j.rasd.2018.05.007 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=368 [article] Effects of written disclosure on psychophysiological stress among parents of children with autism: A randomized controlled pilot study [Texte imprimé et/ou numérique] / Nikko S. DA PAZ, Auteur ; Jan L. WALLANDER, Auteur ; Jitske TIEMENSMA, Auteur . - p.7-17. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 53 (September 2018) . - p.7-17 Mots-clés : Autism spectrum disorders  Parent intervention  Caregiver stress  Written disclosure Index. décimale : PER Périodiques Résumé : Background In comparison to parents of typically functioning children or parents of children with other developmental disabilities (i.e. Down’s syndrome or cerebral palsy), parents or caregivers of children with an autism spectrum disorder (ASD) sustain a greater incidence of depression, anxiety, and emotional distress. It is imperative to identify effective methods that target improvement to caregiver mental health. Method A randomized controlled pilot study was conducted to investigate the effect of a written disclosure intervention (expressive writing about traumatic events versus neutral events) on the psychophysiological stress of 71 parents (age 23–62) caring for a child with ASD. Self-reported measures of stress (parenting stress, caregiver burden, and global stress) and a stress biomarker (cortisol awakening response) were evaluated at baseline and 6-month follow-up. Adjusting for baseline values, we performed a univariate analysis of covariance to test directional hypotheses that parents in the treatment group would show a reduction in subjective stress and improvement in physiological stress over time. Results As expected, treatment group parents displayed healthier cortisol activity and reported less global stress compared to controls. Whereas within group analyses indicated all parents experienced improvement in parenting stress and caregiver burden over time, there was no significant treatment effect for these caregiving-specific stress measures. Conclusions Within this pilot study, written disclosure appeared beneficial to caregiver psychophysiological stress. However, due to the provision of substantial participant adherence support, we refrain from suggesting feasibility. Nonetheless, improvement of mental health pathology in parents of children with ASD is both significant and timely. En ligne : https://doi.org/10.1016/j.rasd.2018.05.007 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=368

Characteristics of sleep in children with autism spectrum disorders from the Simons Simplex Collection / Ann E. E. JOHANSSON in Research in Autism Spectrum Disorders, 53 (September 2018)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 53 (September 2018) . - p.18-30 Titre : Characteristics of sleep in children with autism spectrum disorders from the Simons Simplex Collection Type de document : Texte imprimé et/ou numérique Auteurs : Ann E. E. JOHANSSON, Auteur ; Christine A. FEELEY, Auteur ; Janice S. DORMAN, Auteur ; Eileen R. CHASENS, Auteur Article en page(s) : p.18-30 Langues : Anglais (eng) Mots-clés : ASD  Sleep  Simons Simplex Collection  Gastrointestinal disturbance Index. décimale : PER Périodiques Résumé : Background An estimated 40–80% of children with ASD have sleep problems, including bedtime behavior problems, difficulty falling asleep and staying asleep, decreased sleep time, and daytime sleepiness. This study aimed to examine the relationship between sleep problems and characteristics of children with ASD in a large, nationwide sample. Methods This secondary analysis of children 4- to 18-years explored 11 sleep problems using the Simons Simplex Collection Sleep Interview (SSCSI). The SSCSI includes nighttime problems, daytime problems, and sleep duration problems subscales. Chi square, Kruskal-Wallis and Mann- Whitney U tests were performed to detect differences between age groups, sexes, and sleep problem groups (none/minimal, mild, moderate/severe). Odds ratios for variables associated with sleep problems were assessed using baseline and adjacent category logistic regression. Two-way interaction effects were included in regression models, and stratified analyses were performed for age groups. Results Approximately 41% of children were categorized as having mild or moderate/severe sleep problems. The most commonly reported SSCSI items were in the nighttime problems subscale; difficulty falling asleep was the most frequently reported item. Mean sleep duration was approximately 9?h, although more than one-quarter slept less than the hours recommended for their age. Increased odds of sleep problems were most frequently associated with gastrointestinal distress (GID) and non-verbal IQ (NVIQ), followed by male sex and age. ADOS severity score is likely not associated with sleep problems in this sample. Conclusions This study advances our understanding of sleep in ASD by showing that GID, NVIQ, sex, and age increased the odds of sleep problems in children with ASD. These results reinforce that healthcare professionals should screen for sleep problems in children with ASD and suggest future lines of inquiry. En ligne : https://doi.org/10.1016/j.rasd.2018.06.001 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=368 [article] Characteristics of sleep in children with autism spectrum disorders from the Simons Simplex Collection [Texte imprimé et/ou numérique] / Ann E. E. JOHANSSON, Auteur ; Christine A. FEELEY, Auteur ; Janice S. DORMAN, Auteur ; Eileen R. CHASENS, Auteur . - p.18-30. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 53 (September 2018) . - p.18-30 Mots-clés : ASD  Sleep  Simons Simplex Collection  Gastrointestinal disturbance Index. décimale : PER Périodiques Résumé : Background An estimated 40–80% of children with ASD have sleep problems, including bedtime behavior problems, difficulty falling asleep and staying asleep, decreased sleep time, and daytime sleepiness. This study aimed to examine the relationship between sleep problems and characteristics of children with ASD in a large, nationwide sample. Methods This secondary analysis of children 4- to 18-years explored 11 sleep problems using the Simons Simplex Collection Sleep Interview (SSCSI). The SSCSI includes nighttime problems, daytime problems, and sleep duration problems subscales. Chi square, Kruskal-Wallis and Mann- Whitney U tests were performed to detect differences between age groups, sexes, and sleep problem groups (none/minimal, mild, moderate/severe). Odds ratios for variables associated with sleep problems were assessed using baseline and adjacent category logistic regression. Two-way interaction effects were included in regression models, and stratified analyses were performed for age groups. Results Approximately 41% of children were categorized as having mild or moderate/severe sleep problems. The most commonly reported SSCSI items were in the nighttime problems subscale; difficulty falling asleep was the most frequently reported item. Mean sleep duration was approximately 9?h, although more than one-quarter slept less than the hours recommended for their age. Increased odds of sleep problems were most frequently associated with gastrointestinal distress (GID) and non-verbal IQ (NVIQ), followed by male sex and age. ADOS severity score is likely not associated with sleep problems in this sample. Conclusions This study advances our understanding of sleep in ASD by showing that GID, NVIQ, sex, and age increased the odds of sleep problems in children with ASD. These results reinforce that healthcare professionals should screen for sleep problems in children with ASD and suggest future lines of inquiry. En ligne : https://doi.org/10.1016/j.rasd.2018.06.001 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=368

Emotion-recognition and theory of mind in high-functioning children with ASD: Relationships with attachment security and executive functioning / C. SIVARATNAM in Research in Autism Spectrum Disorders, 53 (September 2018)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 53 (September 2018) . - p.31-40 Titre : Emotion-recognition and theory of mind in high-functioning children with ASD: Relationships with attachment security and executive functioning Type de document : Texte imprimé et/ou numérique Auteurs : C. SIVARATNAM, Auteur ; L. NEWMAN, Auteur ; Nicole J. RINEHART, Auteur Article en page(s) : p.31-40 Langues : Anglais (eng) Mots-clés : Autism spectrum disorders  Emotion-recognition  Theory of mind  Attachment security  Executive functioning Index. décimale : PER Périodiques Résumé : This study explored the relationships that attachment security and executive functioning (EF) (working memory and inhibition) had with emotion-recognition and theory of mind (ToM) in children with high-functioning Autism Spectrum Disorder (ASD) aged between 6 and 12 years (n?=?26), while controlling for cognitive ability. Group differences in attachment security were also explored in this group, compared to a typically-developing group (n?=?27) matched on age and cognitive ability. Attachment security was not found to be significantly different between groups, however studies employing larger sample sizes are needed to further clarify this finding. Cognitive processes and attachment insecurity appear to relate to performance on structured behavioural measures of emotion-recognition and ToM differentially in children with high-functioning ASD and typically-developing children. Implications for the mechanisms underlying socio-emotional processes in childhood are discussed. En ligne : https://doi.org/10.1016/j.rasd.2018.05.005 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=368 [article] Emotion-recognition and theory of mind in high-functioning children with ASD: Relationships with attachment security and executive functioning [Texte imprimé et/ou numérique] / C. SIVARATNAM, Auteur ; L. NEWMAN, Auteur ; Nicole J. RINEHART, Auteur . - p.31-40. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 53 (September 2018) . - p.31-40 Mots-clés : Autism spectrum disorders  Emotion-recognition  Theory of mind  Attachment security  Executive functioning Index. décimale : PER Périodiques Résumé : This study explored the relationships that attachment security and executive functioning (EF) (working memory and inhibition) had with emotion-recognition and theory of mind (ToM) in children with high-functioning Autism Spectrum Disorder (ASD) aged between 6 and 12 years (n?=?26), while controlling for cognitive ability. Group differences in attachment security were also explored in this group, compared to a typically-developing group (n?=?27) matched on age and cognitive ability. Attachment security was not found to be significantly different between groups, however studies employing larger sample sizes are needed to further clarify this finding. Cognitive processes and attachment insecurity appear to relate to performance on structured behavioural measures of emotion-recognition and ToM differentially in children with high-functioning ASD and typically-developing children. Implications for the mechanisms underlying socio-emotional processes in childhood are discussed. En ligne : https://doi.org/10.1016/j.rasd.2018.05.005 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=368

Family level processes associated with outcomes for individuals with autism spectrum disorder: A scoping review / Jessica L. GREENLEE in Research in Autism Spectrum Disorders, 53 (September 2018)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 53 (September 2018) . - p.41-52 Titre : Family level processes associated with outcomes for individuals with autism spectrum disorder: A scoping review Type de document : Texte imprimé et/ou numérique Auteurs : Jessica L. GREENLEE, Auteur ; Marcia A. WINTER, Auteur ; Joshua John DIEHL, Auteur Article en page(s) : p.41-52 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Family  Family systems theory  Family functioning  Family processes Index. décimale : PER Périodiques Résumé : Background Families of individuals with autism spectrum disorder (ASD) face distinct challenges, and there is a need for research that attends specifically to the family. Despite the recognition of reciprocal influences in the family, research on families of individuals with ASD has tended to focus on child effects within a dyadic subsystem and not necessarily family effects. Thus, this review focuses on whether and how family processes are associated with the behavioral, social, and/or emotional development of individuals with ASD. Method A scoping review was conducted to synthesize existing empirical literature regarding links from family functioning to individual outcomes. Family systems approaches are used along with ecological models to provide an inclusive, guiding framework for research design and interpretation of findings in family-based ASD research. Results Results suggest that family-wide factors such as adaptability, cohesion, social support, dynamics, and functioning may be important for child development. However, the heterogeneity of the body of literature reviewed makes definitive conclusions difficult. Conclusions Recommendations for future research, including the need for theoretically grounded, developmentally appropriate, models that highlight the unique strengths, challenges, and cultural influences of families of an individual with ASD are discussed. En ligne : https://doi.org/10.1016/j.rasd.2018.06.002 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=368 [article] Family level processes associated with outcomes for individuals with autism spectrum disorder: A scoping review [Texte imprimé et/ou numérique] / Jessica L. GREENLEE, Auteur ; Marcia A. WINTER, Auteur ; Joshua John DIEHL, Auteur . - p.41-52. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 53 (September 2018) . - p.41-52 Mots-clés : Autism spectrum disorder  Family  Family systems theory  Family functioning  Family processes Index. décimale : PER Périodiques Résumé : Background Families of individuals with autism spectrum disorder (ASD) face distinct challenges, and there is a need for research that attends specifically to the family. Despite the recognition of reciprocal influences in the family, research on families of individuals with ASD has tended to focus on child effects within a dyadic subsystem and not necessarily family effects. Thus, this review focuses on whether and how family processes are associated with the behavioral, social, and/or emotional development of individuals with ASD. Method A scoping review was conducted to synthesize existing empirical literature regarding links from family functioning to individual outcomes. Family systems approaches are used along with ecological models to provide an inclusive, guiding framework for research design and interpretation of findings in family-based ASD research. Results Results suggest that family-wide factors such as adaptability, cohesion, social support, dynamics, and functioning may be important for child development. However, the heterogeneity of the body of literature reviewed makes definitive conclusions difficult. Conclusions Recommendations for future research, including the need for theoretically grounded, developmentally appropriate, models that highlight the unique strengths, challenges, and cultural influences of families of an individual with ASD are discussed. En ligne : https://doi.org/10.1016/j.rasd.2018.06.002 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=368

Challenges of case identification and diagnosis of Autism Spectrum Disorders in China: A critical review of procedures, assessment, and diagnostic criteria / YanLi PANG in Research in Autism Spectrum Disorders, 53 (September 2018)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 53 (September 2018) . - p.53-66 Titre : Challenges of case identification and diagnosis of Autism Spectrum Disorders in China: A critical review of procedures, assessment, and diagnostic criteria Type de document : Texte imprimé et/ou numérique Auteurs : YanLi PANG, Auteur ; Chimei M. LEE, Auteur ; Morgan WRIGHT, Auteur ; Jiaming SHEN, Auteur ; Bo SHEN, Auteur ; Jin BO, Auteur Article en page(s) : p.53-66 Langues : Anglais (eng) Mots-clés : ASD  Screening  Assessment  Diagnosis  Chinese Index. décimale : PER Périodiques Résumé : The estimated prevalence of Autism Spectrum Disorders (ASD) in China has been consistently lower than most of the studies in the West. The current article addressed several challenges in identifying and diagnosing ASD in mainland China. The underestimated prevalence may due to a variety of reasons, including inconsistencies in screening and diagnostic procedures, variations in translated instruments, and discrepancies between diagnostic criteria. This review provides insight into ASD assessment and diagnosis in the Chinese population and discusses strategies for the further advancement of ASD identification and intervention in mainland China. En ligne : https://doi.org/10.1016/j.rasd.2018.06.003 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=368 [article] Challenges of case identification and diagnosis of Autism Spectrum Disorders in China: A critical review of procedures, assessment, and diagnostic criteria [Texte imprimé et/ou numérique] / YanLi PANG, Auteur ; Chimei M. LEE, Auteur ; Morgan WRIGHT, Auteur ; Jiaming SHEN, Auteur ; Bo SHEN, Auteur ; Jin BO, Auteur . - p.53-66. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 53 (September 2018) . - p.53-66 Mots-clés : ASD  Screening  Assessment  Diagnosis  Chinese Index. décimale : PER Périodiques Résumé : The estimated prevalence of Autism Spectrum Disorders (ASD) in China has been consistently lower than most of the studies in the West. The current article addressed several challenges in identifying and diagnosing ASD in mainland China. The underestimated prevalence may due to a variety of reasons, including inconsistencies in screening and diagnostic procedures, variations in translated instruments, and discrepancies between diagnostic criteria. This review provides insight into ASD assessment and diagnosis in the Chinese population and discusses strategies for the further advancement of ASD identification and intervention in mainland China. En ligne : https://doi.org/10.1016/j.rasd.2018.06.003 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=368

Association analysis of two synapse-related gene mutations with autism spectrum disorder in a Chinese population / Fang HOU in Research in Autism Spectrum Disorders, 53 (September 2018)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 53 (September 2018) . - p.67-72 Titre : Association analysis of two synapse-related gene mutations with autism spectrum disorder in a Chinese population Type de document : Texte imprimé et/ou numérique Auteurs : Fang HOU, Auteur ; Li LI, Auteur ; Jianhua GONG, Auteur ; Yanlin CHEN, Auteur ; Jia WANG, Auteur ; Lingfei LIU, Auteur ; Xiu LUO, Auteur ; HuaiTing GU, Auteur ; Jiajia ZHANG, Auteur ; Ranran SONG, Auteur Article en page(s) : p.67-72 Langues : Anglais (eng) Mots-clés : Polymorphism  Autism spectrum disorder Index. décimale : PER Périodiques Résumé : Background Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with a strong genetic basis. Recently, synaptic abnormality has been proved to have a strong association with the etiology of ASD. PSD95 and DLGAP2 are the members of postsynaptic scaffolding proteins that play crucial roles in synaptic plasticity and function. This study evaluated the association of the genetic variants in PSD95 and DLGAP2 with ASD. Methods We performed a case-control study in a Chinese population with samples of 529 cases and 1923 controls. We extracted genomic DNA from oral swabs and determined the SNP genotypes by using a PCR-RFLP assay. Results We sequenced five SNPs (rs7005715, rs2301963 and rs2906569 in DLGAP2; rs2521985 and rs2017365 in PSD95). Genetic analysis suggested the GA genotype and GG genotype of rs7005715 were significantly associated with increased risk of ASD (respectively: OR?=?1.357, 95%CI?=?1.103–1.669, P?=?0.016; OR?=?1.860, 95%CI?=?1.359–2.551, P? En ligne : https://doi.org/10.1016/j.rasd.2018.06.005 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=368 [article] Association analysis of two synapse-related gene mutations with autism spectrum disorder in a Chinese population [Texte imprimé et/ou numérique] / Fang HOU, Auteur ; Li LI, Auteur ; Jianhua GONG, Auteur ; Yanlin CHEN, Auteur ; Jia WANG, Auteur ; Lingfei LIU, Auteur ; Xiu LUO, Auteur ; HuaiTing GU, Auteur ; Jiajia ZHANG, Auteur ; Ranran SONG, Auteur . - p.67-72. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 53 (September 2018) . - p.67-72 Mots-clés : Polymorphism  Autism spectrum disorder Index. décimale : PER Périodiques Résumé : Background Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with a strong genetic basis. Recently, synaptic abnormality has been proved to have a strong association with the etiology of ASD. PSD95 and DLGAP2 are the members of postsynaptic scaffolding proteins that play crucial roles in synaptic plasticity and function. This study evaluated the association of the genetic variants in PSD95 and DLGAP2 with ASD. Methods We performed a case-control study in a Chinese population with samples of 529 cases and 1923 controls. We extracted genomic DNA from oral swabs and determined the SNP genotypes by using a PCR-RFLP assay. Results We sequenced five SNPs (rs7005715, rs2301963 and rs2906569 in DLGAP2; rs2521985 and rs2017365 in PSD95). Genetic analysis suggested the GA genotype and GG genotype of rs7005715 were significantly associated with increased risk of ASD (respectively: OR?=?1.357, 95%CI?=?1.103–1.669, P?=?0.016; OR?=?1.860, 95%CI?=?1.359–2.551, P? En ligne : https://doi.org/10.1016/j.rasd.2018.06.005 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=368