Autism Research最新文献_第9页

Characterizing the autism spectrum phenotype in DYRK1A-related syndrome 表征dyrk1a相关综合征的自闭症谱系表型

IF 4.7 2区医学

Autism Research Pub Date : 2023-07-27 DOI: 10.1002/aur.2995

Evangeline C. Kurtz-Nelson, Hannah M. Rea, Aiva C. Petriceks, Caitlin M. Hudac, Tianyun Wang, Rachel K. Earl, Raphael A. Bernier, Evan E. Eichler, Emily Neuhaus

{"title":"Characterizing the autism spectrum phenotype in DYRK1A-related syndrome","authors":"Evangeline C. Kurtz-Nelson, Hannah M. Rea, Aiva C. Petriceks, Caitlin M. Hudac, Tianyun Wang, Rachel K. Earl, Raphael A. Bernier, Evan E. Eichler, Emily Neuhaus","doi":"10.1002/aur.2995","DOIUrl":"https://doi.org/10.1002/aur.2995","url":null,"abstract":"Likely gene-disrupting (LGD) variants in DYRK1A are causative of DYRK1A syndrome and associated with autism spectrum disorder (ASD) and intellectual disability (ID). While many individuals with DYRK1A syndrome are diagnosed with ASD, they may present with a unique profile of ASD traits. We present a comprehensive characterization of the ASD profile in children and young adults with LGDs in DYRK1A. Individuals with LGD variants in DYRK1A (n = 29) were compared to children who had ASD with no known genetic cause, either with low nonverbal IQ (n = 14) or average or above nonverbal IQ (n = 41). ASD was assessed using the ADOS-2, ADI-R, SRS-2, SCQ, and RBS-R. Quantitative score comparisons were conducted, as were qualitative analyses of clinicians' behavioral observations. Diagnosis of ASD was confirmed in 85% and ID was confirmed in 89% of participants with DYRK1A syndrome. Individuals with DYRK1A syndrome showed broadly similar social communication behaviors to children with idiopathic ASD and below-average nonverbal IQ, with specific challenges noted in social reciprocity and nonverbal communication. Children with DYRK1A syndrome also showed high rates of sensory-seeking behaviors. Phenotypic characterization of individuals with DYRK1A syndrome may provide additional information on mechanisms contributing to co-occurring ASD and ID and contribute to the identification of genetic predictors of specific ASD traits.","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"16 8","pages":"1488-1500"},"PeriodicalIF":4.7,"publicationDate":"2023-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"5879078","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

The developmental trajectory of functional excitation-inhibition balance relates to language abilities in autistic and allistic children 自闭症和自闭症儿童功能性兴奋-抑制平衡的发展轨迹与语言能力有关

IF 4.7 2区医学

Autism Research Pub Date : 2023-07-26 DOI: 10.1002/aur.2992

Hannah Plueckebaum, Lars Meyer, Ann-Kathrin Beck, Katharina H. Menn

{"title":"The developmental trajectory of functional excitation-inhibition balance relates to language abilities in autistic and allistic children","authors":"Hannah Plueckebaum, Lars Meyer, Ann-Kathrin Beck, Katharina H. Menn","doi":"10.1002/aur.2992","DOIUrl":"https://doi.org/10.1002/aur.2992","url":null,"abstract":"Autism is a neurodevelopmental condition that has been related to an overall imbalance between the brain's excitatory (E) and inhibitory (I) systems. Such an EI imbalance can lead to structural and functional cortical deviances and thus alter information processing in the brain, ultimately giving rise to autism traits. However, the developmental trajectory of EI imbalances across childhood and adolescence has not been investigated yet. Therefore, its relationship to autism traits is not well understood. In the present study, we determined a functional measure of the EI balance (f-EIB) from resting-state electrophysiological recordings for a final sample of 92 autistic children from 6 to 17 years of age and 100 allistic (i.e., non-autistic) children matched by age, sex, and nonverbal-IQ. We related the developmental trajectory of f-EIB to behavioral assessments of autism traits as well as language ability. Our results revealed differential EI trajectories for autistic compared to allistic children. Importantly, the developmental trajectory of f-EIB values related to individual language ability. In particular, elevated excitability in late childhood and early adolescence was linked to decreased listening comprehension. Our findings provide evidence against a general EI imbalance in autistic children when correcting for non-verbal IQ. Instead, we show that the developmental trajectory of EI balance shares variance with autism trait development at a specific age range. This is consistent with the proposal that the late development of inhibitory brain activity is a key substrate of autism traits.","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"16 9","pages":"1681-1692"},"PeriodicalIF":4.7,"publicationDate":"2023-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.2992","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41082216","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A longitudinal study of sibling bullying and mental health in autistic adolescents: The role of self-esteem 自闭症青少年兄弟姐妹欺凌与心理健康的纵向研究:自尊的作用

IF 4.7 2区医学

Autism Research Pub Date : 2023-07-17 DOI: 10.1002/aur.2987

Emre Deniz, Umar Toseeb

{"title":"A longitudinal study of sibling bullying and mental health in autistic adolescents: The role of self-esteem","authors":"Emre Deniz, Umar Toseeb","doi":"10.1002/aur.2987","DOIUrl":"https://doi.org/10.1002/aur.2987","url":null,"abstract":"Sibling bullying is associated with poor mental health in autistic adolescents. The reasons for this remain unknown. In the current study, we attempted to replicate the existing findings on the direct associations between sibling bullying and mental health in autistic adolescents and expand knowledge by focusing on the indirect associations through self-esteem. We made use of existing data from the Millennium Cohort Study, a nationally representative UK-based birth cohort study. We fitted a mediation model to longitudinal data from a sample of 416 autistic adolescents aged 11, 14, and 17 years old who had at least one sibling. We found that sibling bullying was prevalent in the lives of autistic adolescents, especially in those who were late-diagnosed, had a shared bedroom, and lived in a low-income household. Additionally, increased sibling bullying in early adolescence was a significant predictor of reduced self-esteem in mid-adolescence; in turn, reduced self-esteem predicted poorer mental health and wellbeing in late adolescence. Our findings indicate that sibling bullying in early adolescence may indirectly lead to poorer mental health and wellbeing in late adolescence through a reduction in self-esteem in mid-adolescence in autistic adolescents. We discuss the implications of these findings further.","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"16 8","pages":"1533-1549"},"PeriodicalIF":4.7,"publicationDate":"2023-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.2987","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"5700336","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Circuits underlying social function and dysfunction 社会功能和功能障碍背后的回路

IF 4.7 2区医学

Autism Research Pub Date : 2023-07-17 DOI: 10.1002/aur.2978

Ziwen Wang, Hannah Yueh, Mirabella Chau, Jeremy Veenstra-VanderWeele, Kally C. O'Reilly

{"title":"Circuits underlying social function and dysfunction","authors":"Ziwen Wang, Hannah Yueh, Mirabella Chau, Jeremy Veenstra-VanderWeele, Kally C. O'Reilly","doi":"10.1002/aur.2978","DOIUrl":"https://doi.org/10.1002/aur.2978","url":null,"abstract":"Substantial advances have been made toward understanding the genetic and environmental risk factors for autism, a neurodevelopmental disorder with social impairment as a core feature. In combination with optogenetic and chemogenetic tools to manipulate neural circuits in vivo, it is now possible to use model systems to test how specific neural circuits underlie social function and dysfunction. Here, we review the literature that has identified circuits associated with social interest (sociability), social reward, social memory, dominance, and aggression, and we outline a preliminary roadmap of the neural circuits driving these social behaviors. We highlight the neural circuitry underlying each behavioral domain, as well as develop an interactive map of how these circuits overlap across domains. We find that some of the circuits underlying social behavior are general and are involved in the control of multiple behavioral aspects, whereas other circuits appear to be specialized for specific aspects of social behavior. Our overlapping circuit map therefore helps to delineate the circuits involved in the various domains of social behavior and to identify gaps in knowledge.","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"16 7","pages":"1268-1288"},"PeriodicalIF":4.7,"publicationDate":"2023-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"5901750","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Comparative strengths and challenges on face-to-face and computer-based attention tasks in autistic and neurotypical toddlers 自闭症和神经正常幼儿面对面和基于电脑的注意力任务的比较优势和挑战

IF 4.7 2区医学

Autism Research Pub Date : 2023-07-13 DOI: 10.1002/aur.2983

Lori-Ann R. Sacrey, Lonnie Zwaigenbaum, Yomna Elshamy, Isabel M. Smith, Jessica A. Brian, Sam Wass

引用次数: 1

Predicting self-injurious behavior at age three among infant siblings of children with autism 自闭症患儿三岁时兄弟姐妹自残行为的预测

IF 4.7 2区医学

Autism Research Pub Date : 2023-07-13 DOI: 10.1002/aur.2981

Adele F. Dimian, Annette M. Estes, Stephen Dager, Joseph Piven, Jason J. Wolff, for the IBIS Network

{"title":"Predicting self-injurious behavior at age three among infant siblings of children with autism","authors":"Adele F. Dimian, Annette M. Estes, Stephen Dager, Joseph Piven, Jason J. Wolff, for the IBIS Network","doi":"10.1002/aur.2981","DOIUrl":"https://doi.org/10.1002/aur.2981","url":null,"abstract":"Existing research suggests that self-injurious behavior (SIB) is a relatively common interfering behavior that can occur across the lifespan of individuals with autism spectrum disorder (ASD). We previously reported that SIB or proto-injurious SIB at 12 months was related to increased risk of SIB at 24 months among a preschool sample of children with a high familial likelihood for ASD (Dimian et al., 2017). In the present study, we extend these findings, examine SIB occurrence, and associated potential risk factors at 36 months. The present sample included 149 infants with an older sibling with ASD (65.8% male) who completed assessments at ages 12, 24, and 36 months. Descriptive analyses and binary logistic regression models were utilized. SIB was more prevalent among those children who received a diagnosis of ASD. Logistic regression indicated that presence of SIB, stereotypy, hyper- and hypo- sensory responsivity, and lower intellectual functioning at age 12 months significantly predicted the occurrence of SIB at 36 months. These findings have implications for understanding developmental processes culminating in persistent SIB and may inform prevention programming.","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"16 9","pages":"1670-1680"},"PeriodicalIF":4.7,"publicationDate":"2023-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.2981","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41081611","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Autism, pets, and the importance of seeing human 自闭症、宠物和看人的重要性

IF 4.7 2区医学

Autism Research Pub Date : 2023-07-11 DOI: 10.1002/aur.2975

Gray Atherton, Andrea Piovesan, Liam Cross

{"title":"Autism, pets, and the importance of seeing human","authors":"Gray Atherton, Andrea Piovesan, Liam Cross","doi":"10.1002/aur.2975","DOIUrl":"https://doi.org/10.1002/aur.2975","url":null,"abstract":"People often see the human in the nonhuman, a process called anthropomorphism. Anthropomorphism is particularly prolific regarding the humanization of pets. Some research suggests that people with autism may not anthropomorphize to the same degree as neurotypicals. In this study, we explored whether there were differences in how autistic and neurotypical pet owners anthropomorphized their pets. We also examined differences in levels of connectedness to nature and experiences of loneliness and how this corresponded to autistic traits in the entire sample. We found anthropomorphism was as common among autistic pet owners as in neurotypicals. However, autistic pet owners reported greater loneliness and were more likely to substitute pets for people. We also found that neurotypical pet owners rated pets more highly on physical, non-anthropomorphic traits (i.e., muscular, active). In contrast, autistic pet owners were likelier to rate pets equally between physical and anthropomorphic traits. Moreover, we found that anthropomorphism and connection to nature were positively correlated with autistic traits. These findings challenge accounts stating that individuals with autism may not anthropomorphize to the same degree as neurotypicals. Implications for animal-based interventions supporting adults on the spectrum are discussed.","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"16 9","pages":"1765-1774"},"PeriodicalIF":4.7,"publicationDate":"2023-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.2975","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41081949","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Ancient roots: A Cambrian explosion of autism susceptibility genes 远古根源:寒武纪自闭症易感基因大爆发

IF 4.7 2区医学

Autism Research Pub Date : 2023-07-08 DOI: 10.1002/aur.2984

Emily L. Casanova

{"title":"Ancient roots: A Cambrian explosion of autism susceptibility genes","authors":"Emily L. Casanova","doi":"10.1002/aur.2984","DOIUrl":"https://doi.org/10.1002/aur.2984","url":null,"abstract":"Functional gene groups often share unique evolutionary patterns. The present study addresses whether autism susceptibility genes, which frequently share functional overlap, display unusual gene age and conservation patterns compared to other gene groups. Using phylostratigraphically-derived and other genetic data, the investigator explores average gene age, Ohnolog status, evolutionary rate, variation intolerance, and numbers of protein–protein (PPI) interactions across autism susceptibility, nervous system, developmental regulatory, immune, housekeeping, and luxury gene groups. Autism susceptibility genes are unusually old compared to controls, many genes having radiated in the Cambrian period in early vertebrates from whole genome duplication events. They are also tightly conserved across the animal kingdom, are highly variation intolerant, and have more PPI than other genes—all features suggesting extreme dosage sensitivity. The results of the current study indicate that autism susceptibility genes display unique radiation and conservation patterns, which may be a reflection of the major transitions in nervous system evolution that were occurring in early animals and which are still foundational in brain development today.","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"16 8","pages":"1480-1487"},"PeriodicalIF":4.7,"publicationDate":"2023-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"6140044","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

No differences in implicit hand maps among different degrees of autistic traits 不同程度自闭症患者的内隐手图无差异

IF 4.7 2区医学

Autism Research Pub Date : 2023-07-06 DOI: 10.1002/aur.2979

Souta Hidaka, Na Chen, Naomi Ishii, Risa Iketani, Kirino Suzuki, Matthew R. Longo, Makoto Wada

{"title":"No differences in implicit hand maps among different degrees of autistic traits","authors":"Souta Hidaka, Na Chen, Naomi Ishii, Risa Iketani, Kirino Suzuki, Matthew R. Longo, Makoto Wada","doi":"10.1002/aur.2979","DOIUrl":"https://doi.org/10.1002/aur.2979","url":null,"abstract":"People with autism spectrum disorder (ASD) or higher levels of autistic traits have atypical characteristics in sensory processing. Atypicalities have been reported for proprioceptive judgments, which are tightly related to internal bodily representations underlying position sense. However, no research has directly investigated whether self-bodily representations are different in individuals with ASD. Implicit hand maps, estimated based on participants' proprioceptive sensations without sight of their hand, are known to be distorted such that the shape is stretched along the medio-lateral hand axis even for neurotypical participants. Here, with the view of ASD as falling on a continuous distribution among the general population, we explored differences in implicit body representations along with autistic traits by focusing on relationships between autistic traits and the magnitudes of the distortions in implicit hand maps (N ~ 100). We estimated the magnitudes of distortions in implicit hand maps both for fingers and hand surfaces on the dorsal and palmar sides of the hand. Autistic traits were measured by questionnaires (Autism Spectrum [AQ] and Empathy/Systemizing [EQ-SQ] Quotients). The distortions in implicit hand maps were replicated in our experimental situations. However, there were no significant relationships between autistic traits and the magnitudes of the distortions as well as within-individual variabilities in the maps and localization performances. Consistent results were observed from comparisons between IQ-matched samples of people with and without a diagnosis of ASD. Our findings suggest that there exist perceptual and neural processes for implicit body representations underlying position sense consistent across levels of autistic traits.","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"16 9","pages":"1750-1764"},"PeriodicalIF":4.7,"publicationDate":"2023-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41081756","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Heterogeneity of autism symptoms in community-referred infants and toddlers at elevated or low familial likelihood of autism 社区转诊婴儿和学步儿童患自闭症的家族可能性升高或降低时自闭症症状的异质性

IF 4.7 2区医学

Autism Research Pub Date : 2023-07-05 DOI: 10.1002/aur.2973

Torrey L. Cohenour, Amanda Gulsrud, Connie Kasari

{"title":"Heterogeneity of autism symptoms in community-referred infants and toddlers at elevated or low familial likelihood of autism","authors":"Torrey L. Cohenour, Amanda Gulsrud, Connie Kasari","doi":"10.1002/aur.2973","DOIUrl":"https://doi.org/10.1002/aur.2973","url":null,"abstract":"Evidence suggests autistic individuals at elevated familial likelihood of autism spectrum disorder (by virtue of having an autistic sibling) have stronger cognitive abilities on average than autistic individuals with no family history of the condition, who have a low familial likelihood of autism. Investigating phenotypic differences between community-referred infants and toddlers with autism symptoms at elevated or low familial likelihood of autism may provide important insight into heterogeneity in the emerging autism phenotype. This study compared behavioral, cognitive, and language abilities of community-referred infants and toddlers with confirmed autism symptoms at elevated (EL) or low familial likelihood of autism (LL). Participants were 121 children aged 12 to 36 months who participated in two larger randomized trials of parent-mediated interventions for children with autism symptoms. Behavioral phenotypes were compared across three groups: children with at least one autistic sibling (EL-Sibs, n = 30), those with at least one older, non-autistic sibling and no family history of autism (LL-Sibs, n = 40), and first-born children with no family history of autism (LL-FB, n = 51). EL-Sibs had less severe autism symptoms and stronger cognitive abilities than children in LL groups. While the rate of receptive language delay was similar across groups, the rate of expressive language delay was markedly lower among EL-Sibs. After controlling for age and nonverbal cognitive ability, EL-Sibs were significantly less likely to present with expressive language delay than LL-Sibs. Familial likelihood of autism may play an important role in shaping the emerging autism phenotype in infancy and toddlerhood.","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"16 9","pages":"1739-1749"},"PeriodicalIF":4.7,"publicationDate":"2023-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.2973","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41082028","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1