Individuals with an autism spectrum disorder (ASD) diagnosis show impairment in executive function (EF). However, findings are mixed regarding differences in the age effect on EF between autistic individuals and persons with typical development (TD). Questions remain regarding whether the age-related trajectories of EF in ASD are the same as or different from those in TD. To bridge this knowledge gap, we conducted a systematic review and meta-analyses of longitudinal studies that compared age-related changes in EF between ASD and TD groups (preregistration: osf.io/j5764). A literature search was conducted using PubMed, PsycINFO, and Web of Science on January 29, 2024. After screening by two independent reviewers, 14 longitudinal studies were included. Random-effects meta-analyses of studies involving a maximum total of 518 autistic and 3558 TD children and adolescents (mean baseline ages: 5.7-12.0 years) showed that ASD had significantly poorer EF than TD at both baseline and follow-up. However, there was no significant group difference in the age-related change in EF across domains, including working memory, inhibition, shifting, and planning. Robust Bayesian meta-analyses also provided substantial evidence in favor of the null hypothesis that ASD and TD groups showed similar changes over time for most EF processes. Limitations of the literature included the limited number of longitudinal studies and a narrow range of developmental stages and EF constructs analyzed across studies. Altogether, these findings suggest that autistic children and adolescents generally can improve in EF over time similarly to their neurotypical peers. This has important implications for parents and educators, encouraging appropriate EF training and intervention for autistic children and adolescents at an early stage.
被诊断为自闭症谱系障碍(ASD)的患者会表现出执行功能(EF)受损。然而,关于自闭症患者与典型发育患者(TD)之间年龄对执行功能影响的差异,研究结果不一。关于自闭症患者的执行功能与年龄相关的轨迹与典型发育障碍患者的轨迹是相同还是不同,仍然存在疑问。为了弥补这一知识空白,我们对比较 ASD 和 TD 组间 EF 年龄相关变化的纵向研究进行了系统回顾和荟萃分析(预注册:osf.io/j5764)。我们于 2024 年 1 月 29 日使用 PubMed、PsycINFO 和 Web of Science 进行了文献检索。经过两位独立审稿人的筛选,共纳入了 14 项纵向研究。随机效应荟萃分析最多涉及 518 名自闭症儿童和青少年以及 3558 名患有自闭症的儿童和青少年(平均基线年龄:5.7-12.0 岁),结果显示,在基线和随访期间,自闭症儿童和青少年的 EF 明显低于患有自闭症的儿童和青少年。然而,在工作记忆、抑制、移位和计划等领域,与年龄相关的EF变化没有明显的群体差异。稳健贝叶斯荟萃分析也提供了大量证据,证明ASD组和TD组在大多数EF过程中表现出相似的随时间变化的零假设。文献的局限性包括纵向研究的数量有限,以及各研究分析的发展阶段和 EF 构建的范围较窄。总之,这些研究结果表明,自闭症儿童和青少年随着时间的推移,他们的EF一般都能得到改善,与神经正常的同龄人类似。这对家长和教育工作者具有重要意义,可鼓励在早期阶段对自闭症儿童和青少年进行适当的情绪情感训练和干预。
{"title":"Longitudinal changes in executive function in autism spectrum disorder: A systematic review and meta-analyses.","authors":"Michael K Yeung, Jieru Bai, Kwai-Lai Mak","doi":"10.1002/aur.3196","DOIUrl":"https://doi.org/10.1002/aur.3196","url":null,"abstract":"<p><p>Individuals with an autism spectrum disorder (ASD) diagnosis show impairment in executive function (EF). However, findings are mixed regarding differences in the age effect on EF between autistic individuals and persons with typical development (TD). Questions remain regarding whether the age-related trajectories of EF in ASD are the same as or different from those in TD. To bridge this knowledge gap, we conducted a systematic review and meta-analyses of longitudinal studies that compared age-related changes in EF between ASD and TD groups (preregistration: osf.io/j5764). A literature search was conducted using PubMed, PsycINFO, and Web of Science on January 29, 2024. After screening by two independent reviewers, 14 longitudinal studies were included. Random-effects meta-analyses of studies involving a maximum total of 518 autistic and 3558 TD children and adolescents (mean baseline ages: 5.7-12.0 years) showed that ASD had significantly poorer EF than TD at both baseline and follow-up. However, there was no significant group difference in the age-related change in EF across domains, including working memory, inhibition, shifting, and planning. Robust Bayesian meta-analyses also provided substantial evidence in favor of the null hypothesis that ASD and TD groups showed similar changes over time for most EF processes. Limitations of the literature included the limited number of longitudinal studies and a narrow range of developmental stages and EF constructs analyzed across studies. Altogether, these findings suggest that autistic children and adolescents generally can improve in EF over time similarly to their neurotypical peers. This has important implications for parents and educators, encouraging appropriate EF training and intervention for autistic children and adolescents at an early stage.</p>","PeriodicalId":72339,"journal":{"name":"Autism research : official journal of the International Society for Autism Research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141556113","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Fiona Journal, Martina Franchini, Michel Godel, Nada Kojovic, Kenza Latrèche, Stefania Solazzo, Maude Schneider, Marie Schaer
Children with autism spectrum disorder (ASD) often face challenges in early social communication skills, prompting the need for a detailed exploration of specific behaviors and their impact on cognitive and adaptive functioning. This study aims to address this gap by examining the developmental trajectories of early social communication skills in preschoolers with ASD aged 18-60 months, comparing them to age-matched typically developing (TD) children. Utilizing the early social communication scales (ESCS), the research employs a longitudinal design to capture changes over time. We apply a principal component analysis (PCA) to ESCS variables to identify underlying components, and cluster analysis to identify subgroups based on preverbal communication profiles. The results reveal consistent differences in early social communication skills between ASD and TD children, with ASD children exhibiting reduced skills. PCA identifies two components, distinguishing objects-directed behaviors and social interaction-directed behaviors. Cluster analysis identifies three subgroups of autistic children, each displaying specific communication profiles associated with distinct cognitive and adaptive functioning trajectories. In conclusion, this study provides a nuanced understanding of early social communication development in ASD, emphasizing the importance of low-level behaviors. The identification of subgroups and their unique trajectories contributes to a more comprehensive understanding of ASD heterogeneity. These findings underscore the significance of early diagnosis, focusing on specific behaviors predicting cognitive and adaptive functioning outcomes. The study encourages further research to explore the sequential development of these skills, offering valuable insights for interventions and support strategies.
{"title":"Phenotyping variability in early socio-communicative skills in young children with autism and its influence on later development.","authors":"Fiona Journal, Martina Franchini, Michel Godel, Nada Kojovic, Kenza Latrèche, Stefania Solazzo, Maude Schneider, Marie Schaer","doi":"10.1002/aur.3188","DOIUrl":"https://doi.org/10.1002/aur.3188","url":null,"abstract":"<p><p>Children with autism spectrum disorder (ASD) often face challenges in early social communication skills, prompting the need for a detailed exploration of specific behaviors and their impact on cognitive and adaptive functioning. This study aims to address this gap by examining the developmental trajectories of early social communication skills in preschoolers with ASD aged 18-60 months, comparing them to age-matched typically developing (TD) children. Utilizing the early social communication scales (ESCS), the research employs a longitudinal design to capture changes over time. We apply a principal component analysis (PCA) to ESCS variables to identify underlying components, and cluster analysis to identify subgroups based on preverbal communication profiles. The results reveal consistent differences in early social communication skills between ASD and TD children, with ASD children exhibiting reduced skills. PCA identifies two components, distinguishing objects-directed behaviors and social interaction-directed behaviors. Cluster analysis identifies three subgroups of autistic children, each displaying specific communication profiles associated with distinct cognitive and adaptive functioning trajectories. In conclusion, this study provides a nuanced understanding of early social communication development in ASD, emphasizing the importance of low-level behaviors. The identification of subgroups and their unique trajectories contributes to a more comprehensive understanding of ASD heterogeneity. These findings underscore the significance of early diagnosis, focusing on specific behaviors predicting cognitive and adaptive functioning outcomes. The study encourages further research to explore the sequential development of these skills, offering valuable insights for interventions and support strategies.</p>","PeriodicalId":72339,"journal":{"name":"Autism research : official journal of the International Society for Autism Research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141536124","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Eirini Papageorgopoulou, Emily J H Jones, Mark H Johnson, Tony Charman, Jonathan Green, Ming Wai Wan
Developmental antecedents of autism may affect parent-infant interactions (PII), altering the context in which core social skills develop. While studies have identified differences in PII between infants with and without elevated likelihood (EL) for autism, samples have been small. Here, we examined whether previously reported differences are replicable. From a longitudinal study of 113 EL and 27 typical likelihood infants (TL), 6-min videotaped unstructured PII was blind rated at 8 and 14 months on eight interactional qualities. Autism outcome was assessed at 36 months. Linear mixed-effects models found higher parent sensitive responsiveness, nondirectiveness, and mutuality ratings in TL than EL infants with and without later autism. PII qualities at 8 (infant positive affect, parent directiveness) and 14 months (infant attentiveness to parent, mutuality) predicted 3-year autism. Attentiveness to parent decreased between 8 and 14 months in EL infants with later autism. This larger study supports previous findings of emerging alterations in PII in this group and extends on this by detecting earlier (8-month) predictive effects of PII for autism outcome and a more marked trajectory of decreased social attentiveness. The findings strengthen the evidence base to support the implementation of early preemptive interventions to support PII in infants with early autism signs.
自闭症的发育先兆可能会影响父母与婴儿之间的互动(PII),从而改变核心社交技能的发展环境。虽然已有研究发现患有自闭症和未患有自闭症的婴儿在亲子互动方面存在差异,但这些研究的样本都很小。在此,我们研究了之前报道的差异是否可以复制。在一项针对 113 名 EL 婴儿和 27 名典型 EL 婴儿(TL)的纵向研究中,我们分别在婴儿 8 个月和 14 个月时对 8 种互动品质进行了 6 分钟非结构化 PII 盲评。自闭症结果在 36 个月时进行评估。线性混合效应模型发现,与 EL 婴儿相比,TL 婴儿的父母敏感反应度、非指导性和相互性评分均高于 EL 婴儿,无论其日后是否患有自闭症。8 个月(婴儿的积极情绪、父母的直接性)和 14 个月(婴儿对父母的专注度、相互性)时的 PII 质量可预测 3 年的自闭症。患有日后自闭症的 EL 婴儿在 8 个月至 14 个月期间对父母的关注度有所下降。这项规模更大的研究证实了之前的研究结果,即自闭症婴儿的 PII 出现了新的变化,并通过检测 PII 对自闭症结果的早期(8 个月)预测效应和更明显的社会关注度下降轨迹,对这一研究结果进行了扩展。这些发现加强了证据基础,支持对有早期自闭症征兆的婴儿实施早期预防性干预,以支持他们的 PII。
{"title":"Parent-infant interaction trajectories in infants with an elevated likelihood for autism in relation to 3-year clinical outcome.","authors":"Eirini Papageorgopoulou, Emily J H Jones, Mark H Johnson, Tony Charman, Jonathan Green, Ming Wai Wan","doi":"10.1002/aur.3190","DOIUrl":"https://doi.org/10.1002/aur.3190","url":null,"abstract":"<p><p>Developmental antecedents of autism may affect parent-infant interactions (PII), altering the context in which core social skills develop. While studies have identified differences in PII between infants with and without elevated likelihood (EL) for autism, samples have been small. Here, we examined whether previously reported differences are replicable. From a longitudinal study of 113 EL and 27 typical likelihood infants (TL), 6-min videotaped unstructured PII was blind rated at 8 and 14 months on eight interactional qualities. Autism outcome was assessed at 36 months. Linear mixed-effects models found higher parent sensitive responsiveness, nondirectiveness, and mutuality ratings in TL than EL infants with and without later autism. PII qualities at 8 (infant positive affect, parent directiveness) and 14 months (infant attentiveness to parent, mutuality) predicted 3-year autism. Attentiveness to parent decreased between 8 and 14 months in EL infants with later autism. This larger study supports previous findings of emerging alterations in PII in this group and extends on this by detecting earlier (8-month) predictive effects of PII for autism outcome and a more marked trajectory of decreased social attentiveness. The findings strengthen the evidence base to support the implementation of early preemptive interventions to support PII in infants with early autism signs.</p>","PeriodicalId":72339,"journal":{"name":"Autism research : official journal of the International Society for Autism Research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141473188","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Guomei Xu, Guohong Geng, Ankang Wang, Zhangyong Li, Zhichao Liu, Yanping Liu, Jun Hu, Wei Wang, Xinwei Li
Autism spectrum disorder (ASD) is a heterogeneous, early-onset neurodevelopmental condition characterized by persistent impairments in social interaction and communication. This study aims to delineate ASD subtypes based on individual gray matter brain networks and provide new insights from a graph theory perspective. In this study, we extracted and normalized single-subject gray matter networks and calculated each network's topological properties. The heterogeneity through discriminative analysis (HYDRA) method was utilized to subtype all patients based on network properties. Next, we explored the differences among ASD subtypes in terms of network properties and clinical measures. Our investigation identified three distinct ASD subtypes. In the case-control study, these subtypes exhibited significant differences, particularly in the precentral gyrus, lingual gyrus, and middle frontal gyrus. In the case analysis, significant differences in global and nodal properties were observed between any two subtypes. Clinically, subtype 1 showed lower VIQ and PIQ compared to subtype 3, but exhibited higher scores in ADOS-Communication and ADOS-Total compared to subtype 2. The results highlight the distinct brain network properties and behaviors among different subtypes of male patients with ASD, providing valuable insights into the neural mechanisms underlying ASD heterogeneity.
{"title":"Three autism subtypes based on single-subject gray matter network revealed by semi-supervised machine learning.","authors":"Guomei Xu, Guohong Geng, Ankang Wang, Zhangyong Li, Zhichao Liu, Yanping Liu, Jun Hu, Wei Wang, Xinwei Li","doi":"10.1002/aur.3183","DOIUrl":"https://doi.org/10.1002/aur.3183","url":null,"abstract":"<p><p>Autism spectrum disorder (ASD) is a heterogeneous, early-onset neurodevelopmental condition characterized by persistent impairments in social interaction and communication. This study aims to delineate ASD subtypes based on individual gray matter brain networks and provide new insights from a graph theory perspective. In this study, we extracted and normalized single-subject gray matter networks and calculated each network's topological properties. The heterogeneity through discriminative analysis (HYDRA) method was utilized to subtype all patients based on network properties. Next, we explored the differences among ASD subtypes in terms of network properties and clinical measures. Our investigation identified three distinct ASD subtypes. In the case-control study, these subtypes exhibited significant differences, particularly in the precentral gyrus, lingual gyrus, and middle frontal gyrus. In the case analysis, significant differences in global and nodal properties were observed between any two subtypes. Clinically, subtype 1 showed lower VIQ and PIQ compared to subtype 3, but exhibited higher scores in ADOS-Communication and ADOS-Total compared to subtype 2. The results highlight the distinct brain network properties and behaviors among different subtypes of male patients with ASD, providing valuable insights into the neural mechanisms underlying ASD heterogeneity.</p>","PeriodicalId":72339,"journal":{"name":"Autism research : official journal of the International Society for Autism Research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141461162","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Amanda Brignell, Katrina J Williams, Sheena Reilly, Angela T Morgan
To examine predictors and growth in language for verbal autistic and non-autistic children with/without low language from 4 to 11 years. Receptive and expressive language trajectories were compared in a community sample of 1026 children at ages 5, 7, and 11 years, across four groups: two autistic groups; one with and one without low language; and two non-autistic groups; one with and one without low language. Groups were delineated on baseline assessment at 4 years. Non-autistic and autistic children with low language had lower mean expressive language scores than the non-autistic typical language group (22.26 and 38.53 units lower, respectively, p < 0.001), yet demonstrated faster language growth across 5 to 11 years (p < 0.001 and p = 0.002, respectively). Both groups without low language had similar mean expressive language scores (p = 0.864) and a comparable rate of growth (p = 0.645). Language at 4 years was the only consistent predictor of language at 11 years for autistic children. Results were similar for receptive language in all analyses except there was no significant difference in rate of progress (slope) for the autistic with low language group compared with the typical language group (p = 0.272). Findings suggest early language ability, rather than a diagnosis of autism, is key to determining language growth and outcomes at 11 years in verbal children. Furthermore, children with low language showed developmental acceleration compared with same age peers.
{"title":"Language growth in verbal autistic children from 5 to 11 years.","authors":"Amanda Brignell, Katrina J Williams, Sheena Reilly, Angela T Morgan","doi":"10.1002/aur.3171","DOIUrl":"https://doi.org/10.1002/aur.3171","url":null,"abstract":"<p><p>To examine predictors and growth in language for verbal autistic and non-autistic children with/without low language from 4 to 11 years. Receptive and expressive language trajectories were compared in a community sample of 1026 children at ages 5, 7, and 11 years, across four groups: two autistic groups; one with and one without low language; and two non-autistic groups; one with and one without low language. Groups were delineated on baseline assessment at 4 years. Non-autistic and autistic children with low language had lower mean expressive language scores than the non-autistic typical language group (22.26 and 38.53 units lower, respectively, p < 0.001), yet demonstrated faster language growth across 5 to 11 years (p < 0.001 and p = 0.002, respectively). Both groups without low language had similar mean expressive language scores (p = 0.864) and a comparable rate of growth (p = 0.645). Language at 4 years was the only consistent predictor of language at 11 years for autistic children. Results were similar for receptive language in all analyses except there was no significant difference in rate of progress (slope) for the autistic with low language group compared with the typical language group (p = 0.272). Findings suggest early language ability, rather than a diagnosis of autism, is key to determining language growth and outcomes at 11 years in verbal children. Furthermore, children with low language showed developmental acceleration compared with same age peers.</p>","PeriodicalId":72339,"journal":{"name":"Autism research : official journal of the International Society for Autism Research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141201326","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Clémence Feller, Laura Ilen, Stephan Eliez, Maude Schneider
Loneliness is a negative emotional experience that can stem from a gap between desires and the reality of social relationships. It is also a predictor of mental health. Loneliness is therefore important to investigate in neurodevelopmental populations known for having difficulties in the social sphere. This co-registered study involved 48 youths with autism spectrum disorders (ASD), 54 youths with 22q11.2 deletion syndrome (22q11DS) and 65 typically developing youths (TD) aged 12-30. State loneliness was assessed with an ecological momentary assessment. Paper-pencil questionnaires assessing attitude toward aloneness, trait loneliness, and mental health, were completed by the youths and their caregivers. A comparable level of state loneliness between clinical groups and TD were found, with greater loneliness when alone than in a social context. Clinical groups showed a greater intra-individual variability. Both individuals with ASD and 22q11DS revealed a greater affinity toward being alone than TD, but only individuals with ASD reported greater trait loneliness. However, no significant association was found between attitude toward aloneness, trait and state loneliness. Emotional reactivity to loneliness was different between the clinical groups. Self-reported mental health only was associated with loneliness in the clinical groups. These results provide new insights into the understanding of loneliness in these clinical populations and have an impact on clinical care by highlighting the need to remain vigilant when encountering youths who report feeling lonely, and that these youths need to be supported in developing their social network, which appears to be a protective factor against loneliness.
{"title":"Loneliness in daily life: A comparison between youths with autism spectrum disorders and 22q11.2 deletion syndrome (22q11DS).","authors":"Clémence Feller, Laura Ilen, Stephan Eliez, Maude Schneider","doi":"10.1002/aur.3173","DOIUrl":"https://doi.org/10.1002/aur.3173","url":null,"abstract":"<p><p>Loneliness is a negative emotional experience that can stem from a gap between desires and the reality of social relationships. It is also a predictor of mental health. Loneliness is therefore important to investigate in neurodevelopmental populations known for having difficulties in the social sphere. This co-registered study involved 48 youths with autism spectrum disorders (ASD), 54 youths with 22q11.2 deletion syndrome (22q11DS) and 65 typically developing youths (TD) aged 12-30. State loneliness was assessed with an ecological momentary assessment. Paper-pencil questionnaires assessing attitude toward aloneness, trait loneliness, and mental health, were completed by the youths and their caregivers. A comparable level of state loneliness between clinical groups and TD were found, with greater loneliness when alone than in a social context. Clinical groups showed a greater intra-individual variability. Both individuals with ASD and 22q11DS revealed a greater affinity toward being alone than TD, but only individuals with ASD reported greater trait loneliness. However, no significant association was found between attitude toward aloneness, trait and state loneliness. Emotional reactivity to loneliness was different between the clinical groups. Self-reported mental health only was associated with loneliness in the clinical groups. These results provide new insights into the understanding of loneliness in these clinical populations and have an impact on clinical care by highlighting the need to remain vigilant when encountering youths who report feeling lonely, and that these youths need to be supported in developing their social network, which appears to be a protective factor against loneliness.</p>","PeriodicalId":72339,"journal":{"name":"Autism research : official journal of the International Society for Autism Research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141201292","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Issue Information","authors":"","doi":"10.1111/mpp.13295","DOIUrl":"https://doi.org/10.1111/mpp.13295","url":null,"abstract":"","PeriodicalId":72339,"journal":{"name":"Autism research : official journal of the International Society for Autism Research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42341964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Issue Information","authors":"","doi":"10.1111/phpr.12792","DOIUrl":"https://doi.org/10.1111/phpr.12792","url":null,"abstract":"","PeriodicalId":72339,"journal":{"name":"Autism research : official journal of the International Society for Autism Research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44225024","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-10-19DOI: 10.1101/2021.10.19.465007
Stephania Assimopoulos, C. Hammill, D. Fernandes, T. L. Spencer Noakes, Yu-Qing Zhou, L. Nutter, J. Ellegood, E. Anagnostou, J. Sled, J. Lerch
Background Autism Spectrum Disorder (ASD) and Congenital Heart Disease (CHD) are strongly linked on a functional and genetic level. Most work has been focused on neurodevelopmental abnormalities in CHD. Conversely, cardiac abnormalities in ASD have been less studied. In this work we investigate the prevalence of cardiac comorbidities relative to genetic contributors of ASD. Methods Using high frequency ultrasound imaging, we screened 9 mouse models with ASD-related genetic alterations (Arid1b(+/-), Chd8(+/-), 16p11.2 (deletion), Sgsh(+/-), Sgsh(-/-), Shank3 Δexon 4-9(+/-), Shank3 Δexon 4-9(-/-), Fmr1(-/-), Vps13b(+/-)), and pooled wild-type littermates (WT). Using a standardised imaging protocol, we measured heart rate (HR), aorta diameter (AoD), thickness and thickening of the left-ventricular (LV) anterior and posterior walls, LV chamber diameter, fractional shortening, stroke volume and cardiac output, Peak E and A velocity ratio of mitral inflow, Velocity Time Integral (VTI) through the ascending aorta. Results Mutant groups presented small-scale alterations in cardiac structure and function compared to WTs. A greater number of significant differences was observed among mutant groups than between mutant groups and WTs. Mutant groups differed primarily in measures of structure (LV chamber diameter and anterior wall thickness, HR, AoD). When compared to WTs, they differed in both structure and function (LV anterior wall thickness and thickening, chamber diameter and fractional shortening, HR). The mutant groups with most differences to WTs were 16p11.2 (deletion), Fmrl(-/-), Arid1b(+/-). Among mutant groups, the groups differing most from others were 16p11.2 (deletion), Sgsh(+/-), Fmrl(-/-). Our results broadly recapitulate the associated clinical findings. Limitations Various genetically driven cardiac abnormalities occur early in life, so repeating this work in non-adult mice may be valuable. To identify possible sex differences, we must extend this work to female mice. The downsampling procedure used (total correlation calculation) must be verified. Only indirect comparison between our results and clinical literature is possible due to differing study designs. Conclusions The characteristic heterogeneity of ASD was recapitulated in the observed cardiac phenotype. The type of measures (morphological, functional) mutant groups differ in can highlight common underlying mechanisms. Clinically, knowledge of cardiac abnormalities in ASD can be essential as even non-lethal cardiac abnormalities can impact normal development.
{"title":"Genetic mouse models of autism spectrum disorder present subtle heterogenous cardiac abnormalities","authors":"Stephania Assimopoulos, C. Hammill, D. Fernandes, T. L. Spencer Noakes, Yu-Qing Zhou, L. Nutter, J. Ellegood, E. Anagnostou, J. Sled, J. Lerch","doi":"10.1101/2021.10.19.465007","DOIUrl":"https://doi.org/10.1101/2021.10.19.465007","url":null,"abstract":"Background Autism Spectrum Disorder (ASD) and Congenital Heart Disease (CHD) are strongly linked on a functional and genetic level. Most work has been focused on neurodevelopmental abnormalities in CHD. Conversely, cardiac abnormalities in ASD have been less studied. In this work we investigate the prevalence of cardiac comorbidities relative to genetic contributors of ASD. Methods Using high frequency ultrasound imaging, we screened 9 mouse models with ASD-related genetic alterations (Arid1b(+/-), Chd8(+/-), 16p11.2 (deletion), Sgsh(+/-), Sgsh(-/-), Shank3 Δexon 4-9(+/-), Shank3 Δexon 4-9(-/-), Fmr1(-/-), Vps13b(+/-)), and pooled wild-type littermates (WT). Using a standardised imaging protocol, we measured heart rate (HR), aorta diameter (AoD), thickness and thickening of the left-ventricular (LV) anterior and posterior walls, LV chamber diameter, fractional shortening, stroke volume and cardiac output, Peak E and A velocity ratio of mitral inflow, Velocity Time Integral (VTI) through the ascending aorta. Results Mutant groups presented small-scale alterations in cardiac structure and function compared to WTs. A greater number of significant differences was observed among mutant groups than between mutant groups and WTs. Mutant groups differed primarily in measures of structure (LV chamber diameter and anterior wall thickness, HR, AoD). When compared to WTs, they differed in both structure and function (LV anterior wall thickness and thickening, chamber diameter and fractional shortening, HR). The mutant groups with most differences to WTs were 16p11.2 (deletion), Fmrl(-/-), Arid1b(+/-). Among mutant groups, the groups differing most from others were 16p11.2 (deletion), Sgsh(+/-), Fmrl(-/-). Our results broadly recapitulate the associated clinical findings. Limitations Various genetically driven cardiac abnormalities occur early in life, so repeating this work in non-adult mice may be valuable. To identify possible sex differences, we must extend this work to female mice. The downsampling procedure used (total correlation calculation) must be verified. Only indirect comparison between our results and clinical literature is possible due to differing study designs. Conclusions The characteristic heterogeneity of ASD was recapitulated in the observed cardiac phenotype. The type of measures (morphological, functional) mutant groups differ in can highlight common underlying mechanisms. Clinically, knowledge of cardiac abnormalities in ASD can be essential as even non-lethal cardiac abnormalities can impact normal development.","PeriodicalId":72339,"journal":{"name":"Autism research : official journal of the International Society for Autism Research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44093703","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The problem of heterogeneity in autism: Response to Mottron (2021) \"Aradical change in our autism research strategy is needed: Back to prototypes\".","authors":"Lynn Waterhouse","doi":"10.1002/aur.2584","DOIUrl":"10.1002/aur.2584","url":null,"abstract":"","PeriodicalId":72339,"journal":{"name":"Autism research : official journal of the International Society for Autism Research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39260288","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}