Autistic children are frequently said to speak with accents that markedly differ from those of their linguistic communities. To date, these anecdotal reports have never been tested or explained. We ran two perception studies using short audio recordings of autistic and typically developing children from the Campania region in Italy. The variety of Italian to which children are exposed in this region markedly differs from those spoken in the rest of Italy. Participant responses about the children's geographical origin show: (a) That autistic children's accent is devoid of the regional features of their community; (b) resembles the standard variety used in cartoons and child television programs. The judgments about children's accents are, furthermore, independent of the overall perception of speech atypicality. This paper shows that the accent of autistic children may diverge from that of their caregivers and peers because of the lasting influence of non-interactional, screen sources on their speech.
{"title":"Atypical Regional Accent in Autistic Children: A Perception Study","authors":"Federica Beccaria, Gloria Gagliardi, Mikhail Kissine","doi":"10.1002/aur.3300","DOIUrl":"10.1002/aur.3300","url":null,"abstract":"<p>Autistic children are frequently said to speak with accents that markedly differ from those of their linguistic communities. To date, these anecdotal reports have never been tested or explained. We ran two perception studies using short audio recordings of autistic and typically developing children from the Campania region in Italy. The variety of Italian to which children are exposed in this region markedly differs from those spoken in the rest of Italy. Participant responses about the children's geographical origin show: (a) That autistic children's accent is devoid of the regional features of their community; (b) resembles the standard variety used in cartoons and child television programs. The judgments about children's accents are, furthermore, independent of the overall perception of speech atypicality. This paper shows that the accent of autistic children may diverge from that of their caregivers and peers because of the lasting influence of non-interactional, screen sources on their speech.</p>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"18 2","pages":"415-426"},"PeriodicalIF":5.3,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.3300","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142911257","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}
Imbalances in several trace elements related to antioxidant function may lead to autism spectrum disorder (ASD)-related physiological dysfunction. Nonetheless, contradictory results have been found on the connection between these elements and ASD, and studies of their joint effects and interactions have been insufficient. We therefore designed a case–control study of 152 ASD children and 152 age- and sex-matched typically developing (TD) children to explore the individual and combined associations of manganese (Mn), zinc (Zn), copper (Cu), and selenium (Se) with ASD. Compared with TD, ASD has lower Zn and Se levels and higher Cu levels. The restricted cubic spline model showed J-shaped non-linearity, L-shaped non-linearity, and positive linearity correlations between Mn, Zn, Cu, and ASD. Zn and Cu were negatively and positively correlated with ASD symptoms, respectively. The superoxide dismutase (SOD) mediated 50.53% and 39.07% of the association between Zn, Se, and ASD, respectively. Bayesian kernel machine regression (BKMR) confirmed a U-shaped correlation between the element mixtures and ASD. Interactions of Mn with the other three elements and Cu with Zn were also observed. Our results confirm that the independent and combined exposure to the four trace elements was associated with ASD, with oxidative stress being an important mechanism. Due to the potential interactions between the elements, further research is needed to explore their involvement in the pathogenesis and progression of ASD from a combined perspective, as well as the beneficial and harmful concentration ranges.
{"title":"Associations of Serum Manganese, Zinc, Copper, and Selenium Concentrations With Autism Spectrum Disorders in Chinese Children: A Case–Control Study","authors":"Yong Zhang, Fang Xie, Sheng Li, Ying Li, Liting Yang, Zhen Wang, Jinlin Lei, Huailan Guo","doi":"10.1002/aur.3302","DOIUrl":"10.1002/aur.3302","url":null,"abstract":"<div>\u0000 \u0000 <p>Imbalances in several trace elements related to antioxidant function may lead to autism spectrum disorder (ASD)-related physiological dysfunction. Nonetheless, contradictory results have been found on the connection between these elements and ASD, and studies of their joint effects and interactions have been insufficient. We therefore designed a case–control study of 152 ASD children and 152 age- and sex-matched typically developing (TD) children to explore the individual and combined associations of manganese (Mn), zinc (Zn), copper (Cu), and selenium (Se) with ASD. Compared with TD, ASD has lower Zn and Se levels and higher Cu levels. The restricted cubic spline model showed J-shaped non-linearity, L-shaped non-linearity, and positive linearity correlations between Mn, Zn, Cu, and ASD. Zn and Cu were negatively and positively correlated with ASD symptoms, respectively. The superoxide dismutase (SOD) mediated 50.53% and 39.07% of the association between Zn, Se, and ASD, respectively. Bayesian kernel machine regression (BKMR) confirmed a U-shaped correlation between the element mixtures and ASD. Interactions of Mn with the other three elements and Cu with Zn were also observed. Our results confirm that the independent and combined exposure to the four trace elements was associated with ASD, with oxidative stress being an important mechanism. Due to the potential interactions between the elements, further research is needed to explore their involvement in the pathogenesis and progression of ASD from a combined perspective, as well as the beneficial and harmful concentration ranges.</p>\u0000 </div>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"18 2","pages":"427-436"},"PeriodicalIF":5.3,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142900735","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}
Child-directed speech (CDS), which amplifies acoustic and social features of speech during interactions with young children, promotes typical phonetic and language development. In autism, both behavioral and brain data indicate reduced sensitivity to human speech, which predicts absent, decreased, or atypical benefits of exaggerated speech signals such as CDS. This study investigates the impact of exaggerated fundamental frequency (F0) and voice-onset time on the neural processing of speech sounds in 22 Chinese-speaking autistic children aged 2–7 years old with a history of speech delays, compared with 25 typically developing (TD) peers. Electroencephalography (EEG) data were collected during passive listening to exaggerated and non-exaggerated syllables. A time-resolved multivariate pattern analysis (MVPA) was used to evaluate the potential effects of acoustic exaggeration on syllable discrimination in terms of neural decoding accuracy. For non-exaggerated syllables, neither the autism nor the TD group achieved above-chance decoding accuracy. In contrast, for exaggerated syllables, both groups achieved above-chance decoding, indicating significant syllable discrimination, with no difference in accuracy between the autism and TD groups. However, the temporal generalization patterns in the MVPA results revealed distinct neural mechanisms supporting syllable discrimination between the groups. Although the TD group demonstrated a left-hemisphere advantage for decoding and generalization, the autism group displayed similar decoding patterns between hemispheres. These findings highlight the potential of selective acoustic exaggeration to support speech learning in autistic children, underscoring the importance of tailored, sensory-based interventions.
{"title":"Acoustic Exaggeration Enhances Speech Discrimination in Young Autistic Children","authors":"Luodi Yu, Lizhi Ban, Aiwen Yi, Jing Xin, Suping Li, Suiping Wang, Laurent Mottron","doi":"10.1002/aur.3301","DOIUrl":"10.1002/aur.3301","url":null,"abstract":"<p>Child-directed speech (CDS), which amplifies acoustic and social features of speech during interactions with young children, promotes typical phonetic and language development. In autism, both behavioral and brain data indicate reduced sensitivity to human speech, which predicts absent, decreased, or atypical benefits of exaggerated speech signals such as CDS. This study investigates the impact of exaggerated fundamental frequency (F0) and voice-onset time on the neural processing of speech sounds in 22 Chinese-speaking autistic children aged 2–7 years old with a history of speech delays, compared with 25 typically developing (TD) peers. Electroencephalography (EEG) data were collected during passive listening to exaggerated and non-exaggerated syllables. A time-resolved multivariate pattern analysis (MVPA) was used to evaluate the potential effects of acoustic exaggeration on syllable discrimination in terms of neural decoding accuracy. For non-exaggerated syllables, neither the autism nor the TD group achieved above-chance decoding accuracy. In contrast, for exaggerated syllables, both groups achieved above-chance decoding, indicating significant syllable discrimination, with no difference in accuracy between the autism and TD groups. However, the temporal generalization patterns in the MVPA results revealed distinct neural mechanisms supporting syllable discrimination between the groups. Although the TD group demonstrated a left-hemisphere advantage for decoding and generalization, the autism group displayed similar decoding patterns between hemispheres. These findings highlight the potential of selective acoustic exaggeration to support speech learning in autistic children, underscoring the importance of tailored, sensory-based interventions.</p>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"18 2","pages":"402-414"},"PeriodicalIF":5.3,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.3301","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142900727","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}
Valeria Khudiakova, Mishel Alexandrovsky, Wei Ai, Meng-Chuan Lai
Camouflaging is an impression management strategy employed by some autistic people, widely seen as a response to the pervasive stigma surrounding autism in society. Autistic narratives and lived experiences consistently link camouflaging to anxiety, depression, suicide risks, and autistic burnout. Quantitative research is yet to determine the nature of these relationships, with a significant portion of recent studies providing inconsistent evidence. While camouflaging can be a compelled survival strategy in social environments, it might also contribute to positive outcomes such as securing employment and forming positive social relationships, implicating a complex interrelationship with mental health and wellbeing. We advocate for using a transactional impression management framework to understand camouflaging and wellbeing and address the inconsistencies in research. Through examining the transactions among a person's individual and cognitive characteristics, behavior modification strategies, and the particular social contexts they find themselves in, this framework guides new empirical research directions to delineate the relationships between camouflaging, impression management, mental health, and wellbeing. There is a need to develop multiple measures of camouflaging that delineate the motivations, ability, effortfulness, and perceived effectiveness of camouflaging and examine how a person's social behaviors are perceived in different social environments. Research should also focus on intersectionality, sociocultural influences, and diverse autistic voices to study context-sensitive camouflaging experiences across the autistic population.
{"title":"What We Know and Do Not Know About Camouflaging, Impression Management, and Mental Health and Wellbeing in Autistic People","authors":"Valeria Khudiakova, Mishel Alexandrovsky, Wei Ai, Meng-Chuan Lai","doi":"10.1002/aur.3299","DOIUrl":"10.1002/aur.3299","url":null,"abstract":"<p>Camouflaging is an impression management strategy employed by some autistic people, widely seen as a response to the pervasive stigma surrounding autism in society. Autistic narratives and lived experiences consistently link camouflaging to anxiety, depression, suicide risks, and autistic burnout. Quantitative research is yet to determine the nature of these relationships, with a significant portion of recent studies providing inconsistent evidence. While camouflaging can be a compelled survival strategy in social environments, it might also contribute to positive outcomes such as securing employment and forming positive social relationships, implicating a complex interrelationship with mental health and wellbeing. We advocate for using a transactional impression management framework to understand camouflaging and wellbeing and address the inconsistencies in research. Through examining the transactions among a person's individual and cognitive characteristics, behavior modification strategies, and the particular social contexts they find themselves in, this framework guides new empirical research directions to delineate the relationships between camouflaging, impression management, mental health, and wellbeing. There is a need to develop multiple measures of camouflaging that delineate the motivations, ability, effortfulness, and perceived effectiveness of camouflaging and examine how a person's social behaviors are perceived in different social environments. Research should also focus on intersectionality, sociocultural influences, and diverse autistic voices to study context-sensitive camouflaging experiences across the autistic population.</p>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"18 2","pages":"273-280"},"PeriodicalIF":5.3,"publicationDate":"2024-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.3299","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142886543","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}
Fátima El-Bouhali-Abdellaoui, Núria Voltas, Paula Morales-Hidalgo, Josefa Canals
Broader Autism Phenotype (BAP) traits may be present in parents of children on the autism spectrum. However, the prevalence and impact of these traits on parental mental health is poorly understood. We explore BAP traits and its relationship to mental health in 228 fathers and 261 mothers from a sample of 266 scholars from the EPINED study (Spain) grouped as follows: non-autism (N = 122), autism traits (N = 93: 38 subthreshold autism and 55 autism symptoms) and autism (N = 51). BAP rates were higher in fathers (36.9%) than in mothers (26.1%). Moreover, BAP was significantly more frequent in fathers of autistic children (52.3%) than in fathers of children without autistic traits (28.0%), with no differences between autistic conditions groups. Mothers of autistic children exhibited higher psychological distress (36.0%) than mothers of comparison group (19.2%). Fathers with BAP obtained significantly higher scores in emotional problems than fathers without BAP. Multivariate analyses showed that, fathers' emotional problems were associated with their BAP traits, whereas in mothers they were associated with having a child with autism as well as the child's emotional dysregulation. Identifying BAP in parents of autistic conditions children can help professionals to provide specific strategies for improving the well-being of children and parents.
{"title":"Examining the Relationship Between Parental Broader Autism Phenotype Traits, Offspring Autism, and Parental Mental Health","authors":"Fátima El-Bouhali-Abdellaoui, Núria Voltas, Paula Morales-Hidalgo, Josefa Canals","doi":"10.1002/aur.3295","DOIUrl":"10.1002/aur.3295","url":null,"abstract":"<p>Broader Autism Phenotype (BAP) traits may be present in parents of children on the autism spectrum. However, the prevalence and impact of these traits on parental mental health is poorly understood. We explore BAP traits and its relationship to mental health in 228 fathers and 261 mothers from a sample of 266 scholars from the EPINED study (Spain) grouped as follows: non-autism (<i>N</i> = 122), autism traits (<i>N</i> = 93: 38 subthreshold autism and 55 autism symptoms) and autism (<i>N</i> = 51). BAP rates were higher in fathers (36.9%) than in mothers (26.1%). Moreover, BAP was significantly more frequent in fathers of autistic children (52.3%) than in fathers of children without autistic traits (28.0%), with no differences between autistic conditions groups. Mothers of autistic children exhibited higher psychological distress (36.0%) than mothers of comparison group (19.2%). Fathers with BAP obtained significantly higher scores in emotional problems than fathers without BAP. Multivariate analyses showed that, fathers' emotional problems were associated with their BAP traits, whereas in mothers they were associated with having a child with autism as well as the child's emotional dysregulation. Identifying BAP in parents of autistic conditions children can help professionals to provide specific strategies for improving the well-being of children and parents.</p>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"18 2","pages":"387-401"},"PeriodicalIF":5.3,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/aur.3295","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878693","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}
Jin Liu, Laura C. Chezan, Yue Zhao, Sarah K. Hood, Erik Drasgow, Han Wang
The purpose of this study was to develop and validate an ultra-short scale called the Quality of Life for Children with Autism Spectrum Disorder 3 (QOLASD-C3) from the full 16-item QOLASD-C scale. We first used network analysis to identify three core items to be retained on the QOLASD-C3 scale. Second, we used Cronbach's alpha and Pearson Product Moment correlations to determine the reliability and validity of the scale. Third, an optimal cut-off score of 6 was identified for the using receiver operating characteristic curve analysis. Finally, we used logistic regression to examine the similarities in the classification status based on demographic characteristics between the quality of life (QOL) status using the QOLASD-C and the QOLASD-C3 scales. Results were similar across the two versions and suggested variations in QOL status based on race/ethnicity, autism spectrum disorder (ASD) severity, and parents' socio-economic status. Implications for research and practice are discussed.
{"title":"Utilizing network analysis to identify core items of quality of life for children with autism spectrum disorder","authors":"Jin Liu, Laura C. Chezan, Yue Zhao, Sarah K. Hood, Erik Drasgow, Han Wang","doi":"10.1002/aur.3292","DOIUrl":"10.1002/aur.3292","url":null,"abstract":"<p>The purpose of this study was to develop and validate an ultra-short scale called the Quality of Life for Children with Autism Spectrum Disorder 3 (QOLASD-C3) from the full 16-item QOLASD-C scale. We first used network analysis to identify three core items to be retained on the QOLASD-C3 scale. Second, we used Cronbach's alpha and Pearson Product Moment correlations to determine the reliability and validity of the scale. Third, an optimal cut-off score of 6 was identified for the using receiver operating characteristic curve analysis. Finally, we used logistic regression to examine the similarities in the classification status based on demographic characteristics between the quality of life (QOL) status using the QOLASD-C and the QOLASD-C3 scales. Results were similar across the two versions and suggested variations in QOL status based on race/ethnicity, autism spectrum disorder (ASD) severity, and parents' socio-economic status. Implications for research and practice are discussed.</p>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"18 2","pages":"370-386"},"PeriodicalIF":5.3,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142857176","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}
Down syndrome (DS) is the most frequent genetic cause of intellectual disability (ID). Individuals with DS exhibit an elevated risk of other neurodevelopmental disorders, including autism spectrum disorder (ASD). The primary objective of this study was to explore the clinical characteristics of co-occurring ASD in children and adolescents with DS using a case–control approach. We compared the adaptive and behavioral profiles of a group of participants with both DS and ASD (ASD group) with a group of participants with DS-only matched by age, sex, and IQ (CON group). Participants in the ASD group exhibited significantly lower adaptive skills than the CON group, despite the IQ-matching in the moderate/severe ID range. No group differences emerged on internalizing or externalizing behavioral symptoms, but participants in the ASD group exhibited significantly higher social withdrawal, stereotyped behavior, and restricted interests. These findings indicate that, although children with DS—with or without ASD—who have similar low cognitive functioning often exhibit common behavioral traits, paying close attention to the elevation of stereotyped behaviors or restricted interests can improve the detection of co-occurring ASD in this population, enabling more personalized interventions. Conversely, the presence of ritualistic behaviors or behaviors related to insistence on sameness may not be a strong indicator of underlying ASD in children with DS. Additionally, acknowledging that the presence of ASD contributes to adaptive behavior deficits beyond the impact of moderate-to-severe ID alone highlights the critical need for early interventions to enhance daily living skills in this population.
{"title":"Adaptive and Behavioral Profiles in Down Syndrome and Co-Occurring Autism Spectrum Disorder: A Case–Control Study","authors":"Elisa Fucà, Stefano Vicari, Floriana Costanzo","doi":"10.1002/aur.3294","DOIUrl":"10.1002/aur.3294","url":null,"abstract":"<div>\u0000 \u0000 <p>Down syndrome (DS) is the most frequent genetic cause of intellectual disability (ID). Individuals with DS exhibit an elevated risk of other neurodevelopmental disorders, including autism spectrum disorder (ASD). The primary objective of this study was to explore the clinical characteristics of co-occurring ASD in children and adolescents with DS using a case–control approach. We compared the adaptive and behavioral profiles of a group of participants with both DS and ASD (ASD group) with a group of participants with DS-only matched by age, sex, and IQ (CON group). Participants in the ASD group exhibited significantly lower adaptive skills than the CON group, despite the IQ-matching in the moderate/severe ID range. No group differences emerged on internalizing or externalizing behavioral symptoms, but participants in the ASD group exhibited significantly higher social withdrawal, stereotyped behavior, and restricted interests. These findings indicate that, although children with DS—with or without ASD—who have similar low cognitive functioning often exhibit common behavioral traits, paying close attention to the elevation of stereotyped behaviors or restricted interests can improve the detection of co-occurring ASD in this population, enabling more personalized interventions. Conversely, the presence of ritualistic behaviors or behaviors related to insistence on sameness may not be a strong indicator of underlying ASD in children with DS. Additionally, acknowledging that the presence of ASD contributes to adaptive behavior deficits beyond the impact of moderate-to-severe ID alone highlights the critical need for early interventions to enhance daily living skills in this population.</p>\u0000 </div>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"18 2","pages":"362-369"},"PeriodicalIF":5.3,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142857173","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}
Emily F. Ferguson, Kaylin M. Russell, Sarely J. Licona, Ru Ying Cai, Thomas W. Frazier, Giacomo Vivanti, Grace W. Gengoux, Antonio Y. Hardan, Mirko Uljarević
Self-injurious behaviors (SIB) commonly occur in autism spectrum disorder (ASD) and span diverse topographies of self-inflicted behaviors ranging from head banging to hitting oneself against hard objects. Despite the high rates of SIB in autistic individuals, relatively little research has focused on psychological factors associated with the development and maintenance of SIB in individuals with autism and moderate-profound intellectual disability (ID). This commentary synthesizes existing literature on SIB and highlights the need for more research focused on psychological correlates and mechanisms in autistic individuals with moderate-profound ID. We highlight the key role of difficulties in emotion regulation (ER) and co-occurring internalizing symptoms in the manifestation of self-harm behaviors in clinical samples and autism. Furthermore, this commentary proposes a framework for understanding the interplay between poor ER and internalizing symptoms in the development and maintenance of SIB in autistic individuals with moderate-profound ID. Specifically, we explore the emergence of SIB in the context of precipitating cues that trigger strong emotions, ER processes and strategy deployment, and co-occurring internalizing symptoms. Future directions and implications for longitudinal research, measurement development, and clinical treatments are discussed.
{"title":"Toward improved understanding and treatment of self-injurious behaviors in autistic individuals with profound intellectual disability","authors":"Emily F. Ferguson, Kaylin M. Russell, Sarely J. Licona, Ru Ying Cai, Thomas W. Frazier, Giacomo Vivanti, Grace W. Gengoux, Antonio Y. Hardan, Mirko Uljarević","doi":"10.1002/aur.3289","DOIUrl":"10.1002/aur.3289","url":null,"abstract":"<p>Self-injurious behaviors (SIB) commonly occur in autism spectrum disorder (ASD) and span diverse topographies of self-inflicted behaviors ranging from head banging to hitting oneself against hard objects. Despite the high rates of SIB in autistic individuals, relatively little research has focused on psychological factors associated with the development and maintenance of SIB in individuals with autism and moderate-profound intellectual disability (ID). This commentary synthesizes existing literature on SIB and highlights the need for more research focused on psychological correlates and mechanisms in autistic individuals with moderate-profound ID. We highlight the key role of difficulties in emotion regulation (ER) and co-occurring internalizing symptoms in the manifestation of self-harm behaviors in clinical samples and autism. Furthermore, this commentary proposes a framework for understanding the interplay between poor ER and internalizing symptoms in the development and maintenance of SIB in autistic individuals with moderate-profound ID. Specifically, we explore the emergence of SIB in the context of precipitating cues that trigger strong emotions, ER processes and strategy deployment, and co-occurring internalizing symptoms. Future directions and implications for longitudinal research, measurement development, and clinical treatments are discussed.</p>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"18 2","pages":"261-272"},"PeriodicalIF":5.3,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142839749","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}
Congenital sucrase-isomaltase deficiency (CSID) is an inherited metabolic disorder causing chronic gastrointestinal symptoms and malnutrition when untreated. Most CSID patients are likely to remain under- or misdiagnosed. This study aimed to investigate prevalence of CSID among patients with autism spectrum disorder (ASD) presenting with irritable bowel syndrome (IBS) symptoms via prospective SI gene sequencing. A prospective cross-sectional study was conducted on 98 ASD patients exhibiting gastrointestinal symptoms consistent with IBS. Participants were assessed according to Rome IV criteria and underwent SI gene sequencing. Demographic, clinical, and dietary data were collected and analyzed. Sucrose content in various fruits and vegetables was evaluated using three-day food record, and gastrointestinal symptoms were rated on Likert scale. Seven patients (7%) were diagnosed with CSID based on SI gene analysis, revealing six different variants, including four novel mutations. One patient was homozygous for one variant, and six patients were heterozygous. Clinical presentations predominantly included diarrhea, abdominal pain, and bloating, with two patients showing growth retardation. One patient was diagnosed in adulthood. Food allergy and lactose intolerance were the misdiagnoses prior to CSID diagnosis in two patients. Real prevalence of CSID is likely underestimated. Clinical heterogeneity and non-specific symptoms contribute to diagnostic challenges. Gastrointestinal symptoms consistent with IBS in ASD patients should include CSID in differential diagnosis. Early genetic screening for SI variants in ASD patients with IBS symptoms can facilitate timely diagnosis and management, improving outcomes. Heterozygous variants of the SI gene should also be considered, as heterozygous patients can exhibit typical CSID symptoms.
先天性蔗糖异麦芽糖酶缺乏症(CSID)是一种遗传性代谢紊乱疾病,如不及时治疗,会导致慢性胃肠道症状和营养不良。大多数 CSID 患者很可能被漏诊或误诊。本研究旨在通过前瞻性 SI 基因测序,调查自闭症谱系障碍(ASD)患者中出现肠易激综合征(IBS)症状的 CSID 患病率。这项前瞻性横断面研究针对98名表现出符合肠易激综合征胃肠道症状的自闭症谱系障碍患者。研究人员根据罗马IV标准对参与者进行了评估,并进行了SI基因测序。研究人员收集并分析了人口统计学、临床和饮食数据。使用三天食物记录评估各种水果和蔬菜中的蔗糖含量,并用李克特量表对胃肠道症状进行评分。根据 SI 基因分析,7 名患者(7%)被确诊为 CSID,发现了 6 种不同的变异,包括 4 种新型突变。其中一名患者为一种变异的同源基因,六名患者为杂合基因。临床表现主要包括腹泻、腹痛和腹胀,其中两名患者出现生长迟缓。一名患者在成年后才确诊。两名患者在确诊 CSID 之前被误诊为食物过敏和乳糖不耐症。CSID的实际发病率可能被低估了。临床异质性和非特异性症状导致诊断困难。与 ASD 患者肠易激综合征一致的胃肠道症状应将 CSID 纳入鉴别诊断。对有肠易激综合征症状的 ASD 患者及早进行 SI 变异基因筛查,有助于及时诊断和治疗,改善预后。还应考虑 SI 基因的杂合子变异,因为杂合子患者可表现出典型的 CSID 症状。
{"title":"Exploring congenital sucrase-isomaltase deficiency in autism spectrum disorder patients with irritable bowel syndrome symptoms: A prospective SI gene sequencing study","authors":"Tanyel Zubarioglu, Dilara Ulgen, Sedanur Akca-Yesil, Selin Akbulut, Huseyin Onay, Gozde Uzunyayla-Inci, Omer Faruk Beser, Ali İbrahim Hatemi, Çiğdem Aktuğlu-Zeybek, Ertuğrul Kiykim","doi":"10.1002/aur.3293","DOIUrl":"10.1002/aur.3293","url":null,"abstract":"<p>Congenital sucrase-isomaltase deficiency (CSID) is an inherited metabolic disorder causing chronic gastrointestinal symptoms and malnutrition when untreated. Most CSID patients are likely to remain under- or misdiagnosed. This study aimed to investigate prevalence of CSID among patients with autism spectrum disorder (ASD) presenting with irritable bowel syndrome (IBS) symptoms via prospective <i>SI</i> gene sequencing. A prospective cross-sectional study was conducted on 98 ASD patients exhibiting gastrointestinal symptoms consistent with IBS. Participants were assessed according to Rome IV criteria and underwent <i>SI</i> gene sequencing. Demographic, clinical, and dietary data were collected and analyzed. Sucrose content in various fruits and vegetables was evaluated using three-day food record, and gastrointestinal symptoms were rated on Likert scale. Seven patients (7%) were diagnosed with CSID based on <i>SI</i> gene analysis, revealing six different variants, including four novel mutations. One patient was homozygous for one variant, and six patients were heterozygous. Clinical presentations predominantly included diarrhea, abdominal pain, and bloating, with two patients showing growth retardation. One patient was diagnosed in adulthood. Food allergy and lactose intolerance were the misdiagnoses prior to CSID diagnosis in two patients. Real prevalence of CSID is likely underestimated. Clinical heterogeneity and non-specific symptoms contribute to diagnostic challenges. Gastrointestinal symptoms consistent with IBS in ASD patients should include CSID in differential diagnosis. Early genetic screening for <i>SI</i> variants in ASD patients with IBS symptoms can facilitate timely diagnosis and management, improving outcomes. Heterozygous variants of the <i>SI</i> gene should also be considered, as heterozygous patients can exhibit typical CSID symptoms.</p>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"18 1","pages":"44-55"},"PeriodicalIF":5.3,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142830992","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}
Jaana Van Overwalle, Stephanie Van der Donck, Birte Geusens, Bart Boets, Johan Wagemans
Individuals with autism spectrum condition (ASC) are suggested to experience difficulties with categorization and generalization. However, empirical studies have mainly focused on one process at a time, and neglected underlying neural mechanisms. Here, we investigated categorization and generalization at a behavioral and neural level in 38 autistic and 38 neurotypical (NT) adults. By presenting shapes sampled from an artificial multidimensional stimulus space, we investigated (1) behavioral and neural underpinnings of category learning and (2) behavioral generalization of trained categorization to both an extended version of the stimulus space and a novel stimulus space. Our previous findings showed that individuals with autism were slower in category learning. In this study, we demonstrate that this slower learning in autism was not related to differences in applied categorization strategy. In contrast, electroencephalography recordings during training did reveal a reduced amplitude of the N1 component in the right occipital temporal cortex after stimulus presentation in autistic participants, which suggests atypical categorical proficiency. In addition, we observed delayed and higher activation in the frontal regions after receiving (negative) feedback in the autistic group, potentially suggesting more explicit feedback processing or a higher salience of prediction errors in autism. Finally, autistic and NT individuals were able to generalize their learned categorization after training. However, when generalizing to a novel set of shapes, autistic individuals were significantly less accurate. Reduced generalization significantly correlated with increased intolerance to uncertainty scores. This multi-level approach reveals behavioral and neural differences in learning and generalization that could be related to clinical symptoms in autism.
{"title":"Altered category learning and reduced generalization in autistic adults","authors":"Jaana Van Overwalle, Stephanie Van der Donck, Birte Geusens, Bart Boets, Johan Wagemans","doi":"10.1002/aur.3286","DOIUrl":"10.1002/aur.3286","url":null,"abstract":"<p>Individuals with autism spectrum condition (ASC) are suggested to experience difficulties with categorization and generalization. However, empirical studies have mainly focused on one process at a time, and neglected underlying neural mechanisms. Here, we investigated categorization and generalization at a behavioral and neural level in 38 autistic and 38 neurotypical (NT) adults. By presenting shapes sampled from an artificial multidimensional stimulus space, we investigated (1) behavioral and neural underpinnings of category learning and (2) behavioral generalization of trained categorization to both an extended version of the stimulus space and a novel stimulus space. Our previous findings showed that individuals with autism were slower in category learning. In this study, we demonstrate that this slower learning in autism was not related to differences in applied categorization strategy. In contrast, electroencephalography recordings during training did reveal a reduced amplitude of the N1 component in the right occipital temporal cortex after stimulus presentation in autistic participants, which suggests atypical categorical proficiency. In addition, we observed delayed and higher activation in the frontal regions after receiving (negative) feedback in the autistic group, potentially suggesting more explicit feedback processing or a higher salience of prediction errors in autism. Finally, autistic and NT individuals were able to generalize their learned categorization after training. However, when generalizing to a novel set of shapes, autistic individuals were significantly less accurate. Reduced generalization significantly correlated with increased intolerance to uncertainty scores. This multi-level approach reveals behavioral and neural differences in learning and generalization that could be related to clinical symptoms in autism.</p>","PeriodicalId":131,"journal":{"name":"Autism Research","volume":"18 2","pages":"295-311"},"PeriodicalIF":5.3,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142830980","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}