Autism Research and Treatment最新文献

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Autism Spectrum Disorder Detection by Hybrid Convolutional Recurrent Neural Networks from Structural and Resting State Functional MRI Images 通过混合卷积递归神经网络从结构和静息态功能磁共振成像检测自闭症谱系障碍
Autism Research and Treatment Pub Date : 2023-12-20 DOI: 10.1155/2023/4136087
Emel Koc, Habil Kalkan, S. Bilgen
{"title":"Autism Spectrum Disorder Detection by Hybrid Convolutional Recurrent Neural Networks from Structural and Resting State Functional MRI Images","authors":"Emel Koc, Habil Kalkan, S. Bilgen","doi":"10.1155/2023/4136087","DOIUrl":"https://doi.org/10.1155/2023/4136087","url":null,"abstract":"This study aims to increase the accuracy of autism spectrum disorder (ASD) diagnosis based on cognitive and behavioral phenotypes through multiple neuroimaging modalities. We apply machine learning (ML) algorithms to classify ASD patients and healthy control (HC) participants using structural magnetic resonance imaging (s-MRI) together with resting state functional MRI (rs-f-MRI and f-MRI) data from the large multisite data repository ABIDE (autism brain imaging data exchange) and identify important brain connectivity features. The 2D f-MRI images were converted into 3D s-MRI images, and datasets were preprocessed using the Montreal Neurological Institute (MNI) atlas. The data were then denoised to remove any confounding factors. We show, by using three fusion strategies such as early fusion, late fusion, and cross fusion, that, in this implementation, hybrid convolutional recurrent neural networks achieve better performance in comparison to either convolutional neural networks (CNNs) or recurrent neural networks (RNNs). The proposed model classifies subjects as autistic or not according to how functional and anatomical connectivity metrics provide an overall diagnosis based on the autism diagnostic observation schedule (ADOS) standard. Our hybrid network achieved an accuracy of 96% by fusing s-MRI and f-MRI together, which outperforms the methods used in previous studies.","PeriodicalId":8659,"journal":{"name":"Autism Research and Treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138956392","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}
引用次数: 0
"Don't Promise Something You can't Deliver:" Caregivers' Advice for Improving Services to Adolescents and Young Adults with Autism. “不要承诺你做不到的事情”:“照顾者对改善对自闭症青少年和年轻人的服务的建议”。
Autism Research and Treatment Pub Date : 2023-01-01 DOI: 10.1155/2023/6597554
Kristen A Berg, Karen J Ishler, Sarah Lytle, Ronna Kaplan, Fei Wang, Tugba Olgac, Stacy Miner, Marjorie N Edguer, David E Biegel
{"title":"\"Don't Promise Something You can't Deliver:\" Caregivers' Advice for Improving Services to Adolescents and Young Adults with Autism.","authors":"Kristen A Berg,&nbsp;Karen J Ishler,&nbsp;Sarah Lytle,&nbsp;Ronna Kaplan,&nbsp;Fei Wang,&nbsp;Tugba Olgac,&nbsp;Stacy Miner,&nbsp;Marjorie N Edguer,&nbsp;David E Biegel","doi":"10.1155/2023/6597554","DOIUrl":"https://doi.org/10.1155/2023/6597554","url":null,"abstract":"<p><p>Approximately 50,000 youths with autism spectrum disorders (ASD) exit U.S. high schools yearly to enter adult systems of care, many of whom remain dependent on family for day-to-day care and service system navigation. As part of a larger study, 174 family caregivers for adolescents or young adults with ASD were asked what advice they would give service providers about how to improve services for youth with ASD. Reflexive thematic analysis identified a framework of five directives: (1) provide a roadmap to services; (2) improve service access; (3) fill gaps to address unmet needs; (4) educate themselves, their families, and society about autism; and (5) operate from a relationship-building paradigm with families. Education, health, and social service providers, as well as policymakers, can use these directives to better assist youth with ASD and their families in the transition to adulthood.</p>","PeriodicalId":8659,"journal":{"name":"Autism Research and Treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10049841/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9224200","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
An Overview of the Available Intervention Strategies for Postural Balance Control in Individuals with Autism Spectrum Disorder. 自闭症谱系障碍个体姿势平衡控制的干预策略综述。
Autism Research and Treatment Pub Date : 2022-11-21 eCollection Date: 2022-01-01 DOI: 10.1155/2022/3639352
Rabeeh Hariri, Amin Nakhostin-Ansari, Fatemeh Mohammadi, Amir Hossein Memari, Iman Menbari Oskouie, Afarin Haghparast
{"title":"An Overview of the Available Intervention Strategies for Postural Balance Control in Individuals with Autism Spectrum Disorder.","authors":"Rabeeh Hariri,&nbsp;Amin Nakhostin-Ansari,&nbsp;Fatemeh Mohammadi,&nbsp;Amir Hossein Memari,&nbsp;Iman Menbari Oskouie,&nbsp;Afarin Haghparast","doi":"10.1155/2022/3639352","DOIUrl":"https://doi.org/10.1155/2022/3639352","url":null,"abstract":"<p><strong>Background: </strong>Postural instability is a prevalent issue among individuals with autism spectrum disorder (ASD) that affects the development of their perceptual-motor skills and social functioning. Visual and somatosensory processing deficits, hypotonia, basal ganglia dysfunction, and anxiety are some of the concurrent disorders in individuals with ASD. Nevertheless, a definite management protocol for postural instability in ASD has not been introduced yet. Hence, we aim to shed light on the available intervention strategies for postural instability in individuals with ASD.</p><p><strong>Methods: </strong>Even though several studies have been conducted on the effects of various interventions for balance control in individuals with ASD, no study has compared their efficacy, limitations, and clinical implications.</p><p><strong>Results: </strong>This review discusses diverse proposed interventions contributing to ASD postural instability, including martial arts, water-based interventions, animal-assisted therapies, trampoline, balance training, vestibular therapy, transcranial direct current stimulation, sports, play, and active recreation for kids (SPARK), and square-stepping exercise (SSE).</p><p><strong>Conclusion: </strong>Enhancing motor skills, cerebellum function, and sensory input integration were some of the main mechanisms of these interventions to improve balance control in ASD. Some interventions, such as water-based exercises and video games, were enjoyable for children with ASD and could raise their treatment adherence. In most studies, small sample sizes and the lack of a control group represented their major limitations. Therefore, future well-designed randomized controlled trials are required to assess the effects of available interventions on postural control in ASD.</p>","PeriodicalId":8659,"journal":{"name":"Autism Research and Treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9705119/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40712922","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Balance and Vestibular Deficits in Pediatric Patients with Autism Spectrum Disorder: An Underappreciated Clinical Aspect. 平衡和前庭功能障碍在儿童自闭症谱系障碍患者:一个被低估的临床方面。
Autism Research and Treatment Pub Date : 2022-08-16 eCollection Date: 2022-01-01 DOI: 10.1155/2022/7568572
Linda M Oster, Guangwei Zhou
{"title":"Balance and Vestibular Deficits in Pediatric Patients with Autism Spectrum Disorder: An Underappreciated Clinical Aspect.","authors":"Linda M Oster,&nbsp;Guangwei Zhou","doi":"10.1155/2022/7568572","DOIUrl":"https://doi.org/10.1155/2022/7568572","url":null,"abstract":"<p><p>Children with autism spectrum disorder (ASD) not only have communication and social difficulties, but also exhibit poor balance and motor control ability, which frequently affect daily activities. Effective balance and motor control rely on the integration of somatosensory, visual, and vestibular inputs. Although reports of balance dysfunction in ASD have been documented, comprehensive studies of balance and vestibular function in children with ASD are scarce. In this study, we retrospectively reviewed 36 pediatric patients diagnosed with ASD who underwent balance/vestibular laboratory testing in our speciality clinic. Results from sensory organization test (SOT) or modified clinical test for sensory integration of balance (mCTSIB) found that out of 15 patients, 80% had abnormal findings. Of the children who successfully completed each vestibular test, abnormal responses were observed in 12 (80%) sensory organization tests, 5 (24%) vestibular evoked myogenic potential (VEMP), 22 (66%) videonystagmography (VNG), and 11 (32%) sinusoidal rotary chair tests. These results indicate that balance and vestibular testing may be of diagnostic value for clinicians and providers as an aid in early detection, intervention, and the development of appropriate management and therapies for this patient population. Increased awareness of this topic is warranted to promote better clinical management of this special group of patients and improve their quality of life.</p>","PeriodicalId":8659,"journal":{"name":"Autism Research and Treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9398866/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33437814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Severity of Child Autistic Symptoms and Parenting Stress in Mothers of Children with Autism Spectrum Disorder in Japan and USA: Cross-Cultural Differences. 日本和美国自闭症谱系障碍母亲的自闭症症状严重程度和养育压力:跨文化差异
Autism Research and Treatment Pub Date : 2022-07-12 eCollection Date: 2022-01-01 DOI: 10.1155/2022/7089053
Noriko Porter, Katherine A Loveland, Sepideh Saroukhani, Yana Posey, Kana Morimoto, Mohammad H Rahbar
{"title":"Severity of Child Autistic Symptoms and Parenting Stress in Mothers of Children with Autism Spectrum Disorder in Japan and USA: Cross-Cultural Differences.","authors":"Noriko Porter,&nbsp;Katherine A Loveland,&nbsp;Sepideh Saroukhani,&nbsp;Yana Posey,&nbsp;Kana Morimoto,&nbsp;Mohammad H Rahbar","doi":"10.1155/2022/7089053","DOIUrl":"https://doi.org/10.1155/2022/7089053","url":null,"abstract":"<p><p>The purpose of this study was to compare the relationship between parenting stress and autistic symptom severity in the U.S. and Japan. Fifty-two U.S. and 51 Japanese mothers of children aged 2-12 with autism completed measures of parenting stress and child characteristics, including the parenting stress index (PSI), the social communication questionnaire (SCQ), and social responsiveness scale-2 (SRS-2). There was a nonlinear relationship between the child's autistic symptom severity and parenting stress in both countries. We also found some cultural differences: in the parent domain, the relationships between children's SCQ scores and PSI scores differed significantly between the U.S. and Japan. Our findings suggest that autistic severity symptom scores may reflect cross-cultural differences in parenting beliefs, views toward autism, and response styles for evaluating children's behavior. The findings also suggest that parents need support regardless of the child's autism severity, including those with mild to moderate symptoms. Expanding on this line of research and understanding cultural influences on parenting stress may help service providers and agencies offer more culturally sensitive services, parent-education courses, and intervention programs.</p>","PeriodicalId":8659,"journal":{"name":"Autism Research and Treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9296302/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40615369","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 9
Effectiveness and Adverse Effects of Risperidone in Children with Autism Spectrum Disorder in a Naturalistic Clinical Setting at a University Hospital in Oman. 在阿曼一所大学医院的自然临床环境中,利培酮对自闭症谱系障碍儿童的疗效和不良反应。
Autism Research and Treatment Pub Date : 2022-01-31 eCollection Date: 2022-01-01 DOI: 10.1155/2022/2313851
Salim Al-Huseini, Ali Al-Barhoumi, Miad Al-Balushi, Amira Al-Hosni, Tamadhir Al-Mahrouqi, Balqees Al-Mahrizi, Sanjay Jaju, Hassan Mirza
{"title":"Effectiveness and Adverse Effects of Risperidone in Children with Autism Spectrum Disorder in a Naturalistic Clinical Setting at a University Hospital in Oman.","authors":"Salim Al-Huseini,&nbsp;Ali Al-Barhoumi,&nbsp;Miad Al-Balushi,&nbsp;Amira Al-Hosni,&nbsp;Tamadhir Al-Mahrouqi,&nbsp;Balqees Al-Mahrizi,&nbsp;Sanjay Jaju,&nbsp;Hassan Mirza","doi":"10.1155/2022/2313851","DOIUrl":"https://doi.org/10.1155/2022/2313851","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed at examining the effectiveness of treating children with autism spectrum disorder (ASD) who present with irritability, aggression, and disruptive behavior at the Sultan Qaboos University Hospital (SQUH) in Muscat, Oman, with risperidone, and to note any sex-based differences among this cohort.</p><p><strong>Method: </strong>This was a retrospective study conducted at the Department of Behavioral Medicine at SQUH over two years from January 2017 to December 2018. This study included all children aged 3 to 18 years attending the Child and Adolescent Mental Health Service (CAMHS) outpatient clinic with a diagnosis of ASD, based on the DSM-5 criteria, and comorbid disruptive behavior, who had been prescribed risperidone.</p><p><strong>Result: </strong>This study identified 95 ASD patients (72 males). Male patients' BMI score after 12 months of risperidone treatment showed an increase by 0.62 (1.57 SD; <i>P</i>=0.001); however, there was no significant change among female patients. Somnolence was noted in 69.6% of female patients as compared to 34.7% of males (<i>P</i>=0.003). Among those with a family history of ASD, 5 out of 17 patients had treatment success (29.4%), whereas 70 out of 78 patients (90.0%) who did not have a similar history had successful treatment.</p><p><strong>Conclusion: </strong>In conclusion, low-dose risperidone monotherapy is effective and well tolerated among some children with ASD who present with disruptive behavior in a naturalistic clinical setting. However, we found that some of the side effects, such as weight gain and somnolence, were concerning.</p>","PeriodicalId":8659,"journal":{"name":"Autism Research and Treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8814715/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39894780","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 4
Exploring a Role for Parental Mental Health in Perception and Reports of Pain on Behalf of Children with Autism Spectrum Disorder. 探讨父母心理健康在自闭症谱系障碍儿童疼痛感知和报告中的作用。
Autism Research and Treatment Pub Date : 2021-11-15 eCollection Date: 2021-01-01 DOI: 10.1155/2021/2981383
Luke P Grosvenor, Daniel G Whitney, Heather E Volk, M Daniele Fallin
{"title":"Exploring a Role for Parental Mental Health in Perception and Reports of Pain on Behalf of Children with Autism Spectrum Disorder.","authors":"Luke P Grosvenor,&nbsp;Daniel G Whitney,&nbsp;Heather E Volk,&nbsp;M Daniele Fallin","doi":"10.1155/2021/2981383","DOIUrl":"https://doi.org/10.1155/2021/2981383","url":null,"abstract":"<p><p>Children with autism spectrum disorder (ASD) have a higher prevalence of pain compared to those without ASD. Pain is a leading cause of morbidity and disability worldwide and may contribute to adverse health outcomes in people with ASD, thus warranting further research on this special population. The present study used data from 1,423 children with ASD and 46,023 children without ASD and their mothers from the combined 2016-2017 National Survey of Children's Health. Mothers reported child pain and ASD status and their own mental health status. Mothers reporting a status of \"Fair or Poor\" were considered as having maternal mental health conditions (MMHCs) for the purposes of this study. Children with and without ASD who had mothers with MMHCs had higher odds of pain compared to children with mothers without MMHCs. These increased odds did not attenuate as a result of controlling for co-occurring neurological conditions, which have been associated with increased pain in children with ASD. Thus, parent mental health may alter perception and/or reports of pain on behalf of children with and without ASD. Future research should include more detailed assessments of parent mental health and clinical assessments of children in order to explore the role of parent mental health in the experiences of pain and other symptoms present in children with ASD.</p>","PeriodicalId":8659,"journal":{"name":"Autism Research and Treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8608541/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39909446","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Lived Experiences of Mothers Raising Children with Autism in Chitwan District, Nepal. 尼泊尔奇旺地区母亲养育自闭症儿童的生活经验。
Autism Research and Treatment Pub Date : 2021-11-06 eCollection Date: 2021-01-01 DOI: 10.1155/2021/6614490
Sabitri Acharya, Kalpana Sharma
{"title":"Lived Experiences of Mothers Raising Children with Autism in Chitwan District, Nepal.","authors":"Sabitri Acharya,&nbsp;Kalpana Sharma","doi":"10.1155/2021/6614490","DOIUrl":"https://doi.org/10.1155/2021/6614490","url":null,"abstract":"<p><strong>Background: </strong>Autism is a neurodevelopmental problem that is increasing at an alarming rate worldwide. Rearing and caring for children with autism depends upon the perception of mothers and various factors associated with it. There is a gap in the literature regarding the detailed accounts of mother's experiences regarding autism in Nepal. Hence, this study was undertaken to explore lived experiences of mothers raising children with autism.</p><p><strong>Materials and methods: </strong>Qualitative phenomenological study design was used and nine mothers with autistic children were selected using purposive sampling technique. Data were collected using in-depth interview guidelines and analyzed using Colaizzi's steps.</p><p><strong>Results: </strong>Findings of the study revealed that mothers raising children with autism encountered numerous problems in their life. They felt physically exhausted due to the continuous supervision of their child. Emotional problems such as denial, upset/sadness, and worry were also common among them. In addition, all mothers faced social problems such as social blame, social isolation, and ignorance from their relatives and society due to the atypical behavior of their child. Furthermore, the economic problem was also acute among mothers due to job loss, costly medical treatment, and therapies. So, to deal with the stressors they faced, mothers adopted various coping strategies such as respite care, problem-focused strategies, religious coping, and positive coping in their everyday life.</p><p><strong>Conclusion: </strong>In conclusion, to the authors' knowledge, this is the first study documenting the experiences of Nepalese mothers having autistic children. Hence, health care professionals need to pay more attention to address the problems of mothers while treating their autistic children. The Government of Nepal also needs to formulate a policy for the rehabilitation of autistic children in society.</p>","PeriodicalId":8659,"journal":{"name":"Autism Research and Treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8590587/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39881232","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 5
The Effectiveness of RAADS-R as a Screening Tool for Adult ASD Populations. RAADS-R 作为成人 ASD 群体筛查工具的有效性。
Autism Research and Treatment Pub Date : 2021-09-11 eCollection Date: 2021-01-01 DOI: 10.1155/2021/9974791
Sarah L Jones, Maria Johnson, Bronwen Alty, Marios Adamou
{"title":"The Effectiveness of RAADS-R as a Screening Tool for Adult ASD Populations.","authors":"Sarah L Jones, Maria Johnson, Bronwen Alty, Marios Adamou","doi":"10.1155/2021/9974791","DOIUrl":"10.1155/2021/9974791","url":null,"abstract":"<p><p>Adult referrals to specialist autism spectrum disorder diagnostic services have increased in recent years, placing strain on existing services. It was proposed that the Ritvo Autism Asperger's Diagnostic Scale could be used as a screening tool, in order to identify and prioritise patients most likely to receive an ASD diagnosis. This study evaluates the validity of the RAADS-R as a screening tool for ASD in an adult population. Retrospective case note analysis was used to evaluate the efficacy of the RAADS-R as a screening tool to predict ASD diagnostic outcomes in 50 service users of a NHS specialist autism service. Results indicate no association between RAADS-R scores and clinical diagnostic outcome, suggesting the RAADS-R is not an effective screening tool for identifying service users most likely to receive an ASD diagnosis. In conclusion, used as a self-report measure pre-full diagnostic assessment, the RAADS-R lacks predictive validity and is not a suitable screening tool for adults awaiting autism assessments. Future research should aim to identify reliable screening tools for this purpose.</p>","PeriodicalId":8659,"journal":{"name":"Autism Research and Treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8452438/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39440532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
SHANK3 Genotype Mediates Speech and Language Phenotypes in a Nonclinical Population. SHANK3基因型介导非临床人群的言语和语言表型。
Autism Research and Treatment Pub Date : 2021-06-03 eCollection Date: 2021-01-01 DOI: 10.1155/2021/6634584
Christina Manning, Peter L Hurd, Silven Read, Bernard Crespi
{"title":"SHANK3 Genotype Mediates Speech and Language Phenotypes in a Nonclinical Population.","authors":"Christina Manning,&nbsp;Peter L Hurd,&nbsp;Silven Read,&nbsp;Bernard Crespi","doi":"10.1155/2021/6634584","DOIUrl":"https://doi.org/10.1155/2021/6634584","url":null,"abstract":"<p><p>Mutations affecting the synaptic-scaffold gene SHANK3 represent the most common genetic causes of autism with intellectual disability, accounting for about 1-2% of cases. Rare variants of this gene have also been associated with schizophrenia, and its deletion results in the autistic condition known as Phelan-McDermid syndrome. Despite the importance of SHANK3 as a paradigmatic gene mediating neurodevelopmental disorders, its psychological effects in nonclinical populations have yet to be studied. We genotyped the nonsynonymous, functional SHANK3 SNP rs9616915 in a large population of typical individuals scored for autism spectrum traits (the Autism Quotient, AQ) and schizotypy spectrum traits (the Schizotypal Personality Questionnaire, SPQ-BR). Males, but not females, showed significant genotypic effects for the SPQ-BR subscale associated with speech and language: Odd Speech. These findings, in conjunction with animal model studies showing vocalization and auditory effects of SHANK3 mutations, and studies indicating severe language alterations and speech-associated white matter tract abnormalities in Phelan-McDermid syndrome, suggest that SHANK3 differentially affects the development and expression of human language and speech. Imaging genetic and speech-language studies of typical individuals carrying different genotypes of rs9616915 should provide novel insights into the neurological and psychological bases of speech and language alterations among individuals with SHANK3 mutations and Phelan-McDermid syndrome.</p>","PeriodicalId":8659,"journal":{"name":"Autism Research and Treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8195663/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39119396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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