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Identification of de novo Mutations in the Chinese autism Spectrum Disorder Cohort via Whole-Exome Sequencing Unveils Brain Regions Implicated in autism

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Neuroscience Bulletin 2023年第10期39卷 1469-1480页

作者： Bo Yuan Mengdi Wang Xinran Wu Peipei Cheng Ran Zhang Ran Zhang Shunying Yu Jie Zhang Yasong Du Xiaoqun Wang Zilong Qiu Songjiang Research Institute Songjiang HospitalShanghai Jiao Tong University School of MedicineShanghai 201600China Shanghai Mental Health Center Shanghai Jiao Tong University School of MedicineShanghai 200032China Institute of Neuroscience State Key Laboratory of NeuroscienceCAS Center for Excellence in Brain Science and Intelligence TechnologyShanghai Center for Brain Science and Brain-Inspired Intelligence TechnologyChinese Academy of SciencesShanghai 200032China Beijing Normal University Beijing 100875China Institute of Biophysics Chinese Academy of SciencesBeijing 100101China Institute of Science and Technology for Brain-Inspired Intelligence Fudan UniversityShanghai 200433China

autism spectrum disorder(ASD)is a highly heritable neurodevelopmental disorder characterized by deficits in social interactions and repetitive behaviors.Although hundreds of ASD risk genes,implicated in synaptic formation and transcriptional regulation,have been identified through human genetic studies,the East Asian ASD cohorts are still under-represented in genome-wide genetic studies.Here,we applied whole-exome sequencing to 369 ASD trios including probands and unaffected parents of Chinese origin.Using a joint-calling analytical pipeline based on GATK toolkits,we identified numerous de novo mutations including 55 high-impact variants and 165 moderate-impact variants,as well as de novo copy number variations containing known ASD-related genes.Importantly,combined with single-cell sequencing data from the developing human brain,we found that the expression of genes with de novo mutations was specifically enriched in the pre-,post-central gyrus(PRC,PC)and banks of the superior temporal(BST)regions in the human brain.By further analyzing the brain imaging data with ASD and healthy controls,we found that the gray volume of the right BST in ASD patients was significantly decreased compared to healthy controls,suggesting the potential structural deficits associated with ASD.Finally,we found a decrease in the seed-based functional connectivity between BST/PC/PRC and sensory areas,the insula,as well as the frontal lobes in ASD patients.This work indicated that combinatorial analysis with genome-wide screening,single-cell sequencing,and brain imaging data reveal the brain regions contributing to the etiology of ASD.

关键词： autism Cohorts Whole-exome sequencing Single-cell sequencing

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Leaky Gut Plays a Critical Role in the Pathophysiology of autism in Mice by Activating the Lipopolysaccharide‑Mediated Toll‑Like Receptor 4-Myeloid Differentiation Factor 88-Nuclear Factor Kappa B Signaling Pathway

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Neuroscience Bulletin 2023年第6期39卷 911-928页

作者： Fang Li Haoran Ke Siqi Wang Wei Mao Cexiong Fu Xi Chen Qingqing Fu Xiaori Qin Yonghua Huang Bidan Li Shibing Li Jingying Xing Minhui Wang Wenlin Deng Department of Gastroenterology Gastroenterology Endoscopy CenterHainan General HospitalHainan Affiliated Hospital of Hainan Medical UniversityHaikou 570311China Hepatology Unit Department of Infectious DiseasesNanfang HospitalSouthern Medical UniversityGuangzhou 510515China Department of Gastroenterology First Affiliated Hospital of Guangzhou Medical UniversityGuangzhou Medical UniversityGuangzhou 510120China Department of Hepatopancreatobiliary Surgery Hainan General HospitalHainan Affiliated Hospital of Hainan Medical UniversityHaikou 570311China Otolaryngology‑Head and Neck Surgery Hospital of Hainan ProvinceDepartment of OtorhinolaryngologyHead and Neck SurgeryHainan General HospitalHainan Affiliated Hospital of Hainan Medical UniversityHaikou 570311China Department of Radiology Hainan General HospitalHainan Affiliated Hospital of Hainan Medical UniversityHaikou 570311China Department of Pediatric Surgery Hainan General HospitalHainan Affiliated Hospital of Hainan Medical UniversityHaikou 570311China Department of Gastroenterology Hainan General HospitalHainan Affiliated Hospital of Hainan Medical UniversityHaikou 570311China Department of Nephrology Department of NephrologyHainan Affiliated Hospital of Hainan Medical CollegeHainan General HospitalHaikou 570311China Department of Pediatrics The Sixth Affiliated HospitalSun Yat-sen UniversityGuangzhou 510655China

Increased intestinal barrier permeability,leaky gut,has been reported in patients with autism.However,its contribution to the development of autism has not been determined.We selected dextran sulfate sodium(DSS)to disrupt and metformin to repair the intestinal barrier in BTBR T+tf/J autistic mice to test this hypothesis.DSS treatment resulted in a decreased affinity for social proximity;however,autistic behaviors in mice were improved after the administration of metformin.We found an increased affinity for social proximity/social memory and decreased repetitive and anxiety-related behaviors.The concentration of lipopolysaccharides in blood decreased after the administration of metformin.The expression levels of the key molecules in the toll-like receptor 4(TLR4)–myeloid differentiation factor 88(MyD88)–nuclear factor kappa B(NF-κB)pathway and their downstream inflammatory cytokines in the cerebral cortex were both repressed.Thus,“leaky gut”could be a trigger for the development of autism via activation of the lipopolysaccharide-mediated TLR4–MyD88–NF-κB pathway.

关键词： autism Gut Lipopolysaccharide Toll-like receptor 4 Metformin

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Pharmacotherapy in autism spectrum disorders,including promising older drugs warranting trials

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World Journal of Psychiatry 2023年第6期13卷 262-277页

作者： Jessica Hellings Department of Psychiatry University of Missouri-Kansas CityLee's SummitMO 64063United States

Available pharmacotherapies for autism spectrum disorders(ASD)are reviewed based on clinical and research experience,highlighting some older drugs with emerging evidence.Several medications show efficacy in ASD,though controlled studies in ASD are largely lacking.Only risperidone and aripiprazole have Federal Drug Administration approval in the United States.Methylphenidate(MPH)studies showed lower efficacy and tolerability for attention deficit hyperactivity disorder(ADHD)than in the typically developing(TD)population;atomoxetine demonstrated lower efficacy but comparable tolerability to TD outcomes.Guanfacine improved hyperactivity in ASD comparably to TD.Dextroamphetamine promises greater efficacy than MPH in ASD.ADHD medications reduce impulsive aggression in youth,and may also be key for this in adults.Controlled trials of the selective serotonin reuptake inhibitors citalopram and fluoxetine demonstrated poor tolerability and lack of efficacy for repetitive behaviors.Trials of antiseizure medications in ASD remain inconclusive,however clinical trials may be warranted in severely disabled individuals showing bizarre behaviors.No identified drugs treat ASD core symptoms;oxytocin lacked efficacy.Amitriptyline and loxapine however,show promise.Loxapine at 5-10 mg daily resembled an atypical antipsychotic in positron emission tomography studies,but may be weight-sparing.Amitriptyline at approximately 1 mg/kg/day used cautiously,shows efficacy for sleep,anxiety,impulsivity and ADHD,repetitive behaviors,and enuresis.Both drugs have promising neurotrophic properties.

关键词： autism Pharmacotherapy Dextroamphetamine Loxapine Amitriptyline Minimally verbal Neurotrophic

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An Intronic Variant of CHD7 Identified in autism Patients Interferes with Neuronal Differentiation and Development

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Neuroscience Bulletin 2021年第8期37卷 1091-1106页

作者： Ran Zhang Hui He Bo Yuan Ziyan Wu Xiuzhen Wang Yasong Du Yuejun Chen Zilong Qiu Institute of Neuroscience State Key Laboratory of NeuroscienceKey Laboratory of Primate NeurobiologyCenter for Excellence in Brain Science and Intelligence TechnologyChinese Academy of SciencesShanghai200031China Shanghai Center for Brain Science and Brain-Inspired Intelligence Technology Shanghai201210China University of the Chinese Academy of Sciences Beijing100049China Shanghai Mental Health Center School of MedicineShanghai Jiao Tong UniversityShanghai200030China

Genetic composition plays critical roles in the pathogenesis of autism spectrum disorder(ASD).Especially,inherited and de novo intronic variants are often seen in patients with ASD.However,the biological significance of intronic variants is difficult to address.Here,among a Chinese ASD cohort,we identified a recurrent inherited intronic variant in the CHD7 gene,which is specifically enriched in East Asian populations.CHD7 has been implicated in numerous developmental disorders including CHARGE syndrome and ASD.To investigate whether the ASD-associated CHD7 intronic variant affects neural development,we established human embryonic stem cells carrying this variant using CRISPR/Cas9 methods and found that the level of CHD7 mRNA significantly decreased compared to control.Upon differentiation towards the forebrain neuronal lineage,we found that neural cells carrying the CHD7 intronic variant exhibited developmental delay and maturity defects.Importantly,we found that TBR1,a gene also implicated in ASD,was significantly increased in neurons carrying the CHD7 intronic variant,suggesting the intrinsic relevance among ASD genes.Furthermore,the morphological defects found in neurons carrying CHD7 intronic mutations were rescued by knocking down TBR1,indicating that TBR1 may be responsible for the defects in CHD7-related disorders.Finally,the CHD7 intronic variant generated three abnormal forms of transcripts through alternative splicing,which all exhibited loss-of-function in functional assays.Our study provides crucial evidence supporting the notion that the intronic variant of CHD7 is potentially an autism susceptibility site,shedding new light on identifying the functions of intronic variants in genetic studies of autism.

关键词： autism CHD7 Intronic variant Inherited variant TBR1

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Aberrant auditory system and its developmental implications for autism

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Science China(Life Sciences) 2021年第6期64卷 861-878页

作者： Luodi Yu Suiping Wang Key Laboratory of Brain Cognition and Education SciencesMinistry of EducationChina School of Psychology Center for Studies of Psychological Applicationand Guangdong Key Laboratory of Mental Health and Cognitive ScienceSouth China Normal UniversityGuangzhou 510631China autism Research Center South China Normal UniversityGuangzhou 510631China

Most infants who are later diagnosed with autism show delayed speech and language and/or atypical language profile.There is a large body of research on abnormal speech and language in children with autism.However,auditory development has been relatively under-investigated in autism research,despite its inextricable relationship with language development and despite researchers'ability to detect abnormalities in brain development and behavior in early infancy.In this review,we synthesize research on auditory processing in the prenatal period through infancy and childhood in typically developing children,children at high risk for autism,and children diagnosed with autism.We conclude that there are clear neurobiological and behavioral links between abnormal auditory development and the deficits in social communication seen in autism.We then offer perspectives on the need for a systematic characterization of early auditory development in autism,and identified questions to be addressed in future research on the development of autism.

关键词： autism auditory development auditory system early brain development language development infant learning speech processing

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autism的本质理解及翻译问题研究

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医学与哲学 2023年第20期44卷 36-40页

作者：韩许高陈栋高琳刘振南京中医药大学医学人文学院江苏南京210023 南京中医药大学附属医院康复科江苏南京210004 南京中医药大学医学院江苏南京210023

心理学概念autism有两个汉语译名:孤独症与自闭症。两个译名同时并用,造成了不同程度的混乱和误解。从词源学翻译及理论史双重视角看,autism的本质及合适译名不是孤独症,而是自闭症。孤独症是错误的意译,不符合autism的原始含义,易将其... 详细信息

心理学概念autism有两个汉语译名:孤独症与自闭症。两个译名同时并用,造成了不同程度的混乱和误解。从词源学翻译及理论史双重视角看,autism的本质及合适译名不是孤独症,而是自闭症。孤独症是错误的意译,不符合autism的原始含义,易将其本质误解为极度孤独或依恋障碍。自闭症译名更能反映autism的本义,更符合《精神障碍诊断与统计手册》诊断体系对autism的临床描述,即以自我封闭为根本特征的社交障碍。因此,学界应当放弃孤独症译名,只用自闭症来翻译和理解autism,以避免不正确的病因学解释及一词两译带来的其他问题。

关键词： autism 一词两译孤独症自闭症自我封闭

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Qigong in the treatment of children with autism spectrum disorder:A systematic review

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Journal of Integrative Medicine 2019年第4期17卷 250-260页

作者： Jorge Magalhaes Rodrigues Mariana Mestre Larry Ibarra Fredes Faculty of Medicine of Oporto University (FMUP) Alameda Prof. Hemani Monteiro 4200-319 Porto Portugal Portuguese Institute of Taiji and Qigong Urbanizacao da Boufa Grande Rua E n 102 4470-765 Maia Portugal European Institute of Traditional Chinese Studies (IEETC) Rua Dom Joao IV 399 4000-302 Porto Portugal

Background: autism spectrum disorder is a condition that affects all races, ethnic and socioeconomic groups. With a high incidenee ratio of one in every 68, it has become one of the most discussed psychiatric disorders. For this reason, the need for investigating novel treatments has been emerging. Qigong, a traditional Chinese mind-body technique, has already proven to be able to reduce symptoms of several physical and psychological illnesses. Objective: The purpose of this systematic review is to examine and categorize the current scientific evidence regarding the efficacy of Qigong on children suffering from autism spectrum disorders. Search strategy: A systematic literature search of the electronic scientific databases PubMed, Clinical Trials.gov, BioMed Central, PubMed Central and Google Scholar was performed to identify studies of Qigong in the treatment of children with autism spectrum disorder. Inclusion criteria: This review included randomized controlled trials, replication studies, retrospective studies and observational follow-up studies of Qigong on children with autism spectrum disorder. Case reports and case series were excluded. Data extraction and analysis: Two researchers independently evaluated the methodological quality of all included studies. Any discrepancies were solved by discussion until consensus was achieved. Results: Our literature search identified 157 publications, and 10 additional publications from hand search of references. After duplicate removal, 103 records remained. After the title/abstract screening, 19 publications were obtained for detailed evaluation. After detailed evaluation, 10 studies were included. Seven studies were conducted with small children with 2-6 years old employing Qigong massage, and three studies were con ducted with older children aged 7-17 years old applying both Qigong massage (one study) and Neigong (two studies). Conclusion: Studies demonstrated that Qigong has interesting and promising applicability and effect on children with autism spectrum disord

关键词： autism spectrum disorder Qigong Mind-body interventions Children

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The future of care and clinical research in autism-recommendations from the 2021 Lancet Commission

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Medical Review 2022年第3期2卷 216-218页

作者： Xiang Yu Xiu Xu State Key Laboratory of Membrane Biology School of Life SciencesPeking-Tsinghua Center for Life SciencesIDG/McGovern Institute for Brain ResearchPeking University5 Yiheyuan RoadHaidian DistrictBeijing 100871China autism Research Center of Peking University Health Science Center Beijing 100191China and Chinese Institute for Brain Research Beijing 102206China Department of Child Healthcare Children’s Hospital of Fudan UniversityShanghai 201102China

At least 78 million people worldwide are affected by autism,a neurodevelopmental disorder characterized by deficits in social interactions,and repetitive behaviors and/or interests.autism typically manifests in early childhood,and affects social communications and behaviors throughout the lifespan of the individual.Under the umbrella of autism spectrum disorder,it is a highly heterogeneous disorder,with some individuals profoundly affected and needing care every day,while others can live highly independent lives,with some adjustments.The past 60 years has seen a major influx of interest in autism,and significant advances in many areas.However,a large gap remains between current scientific knowledge and the help and support that people with autism and their families need.To address these concerns,the Lancet commissioned a report on the“future of care and clinical research in autism”.The Commission calls for government coordination between health-care,education and social sectors,as well as active participation from people with autism and their families.The Commission proposes personalized,evidence-based assessments and intervention,that is accessible and affordable to all,and call for increased appreciation of neurodiversity and prioritization of research that can improve the lives of people with autism and their families.How to support each and every autistic individual and their families is highly challenging.The 64-page Lancet Commission Report,published on December 2021,was written jointly by 32 authors from 6 continents and 13 disciplines,including clinicians,other health-care providers,researchers,advocates,autistic individuals and their parents.

关键词： autism autism spectrum disorder neurodevelopmental disorder

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Mitochondrial dysfunction: A hidden trigger of autism?

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Genes & Diseases 2021年第5期8卷 629-639页

作者： Vellingiri Balachandar Kamarajan Rajagopalan Kaavya Jayaramayya Madesh Jeevanandam Mahalaxmi Iyer Human Molecular Genetics and Stem Cell Laboratory Department of Human Genetics and Molecular BiologyBharathiar UniversityCoimbatoreTamil Nadu641046India Department of Zoology Avinashilingam Institute for Home Science and Higher Education for WomenCoimbatoreTamil Nadu641043India Department of Biochemistry PSG College of Arts and SciencesCoimbatoreTamil Nadu641014India

autism is a heterogeneous neurodevelopmental and neuropsychiatric disorder with no precise etiology.Deficits in cognitive functions uncover at early stages and are known to have an environmental and genetic basis.Since autism is multifaceted and also linked with other comorbidities associated with various organs,there is a possibility that there may be a fundamental cellular process responsible for this.These reasons place mitochondria at the point of interest as it is involved in multiple cellular processes predominantly involving meta-bolism.Mitochondria encoded genes were taken into consideration lately because it is inher-ited maternally,has its own genome and also functions the time of embryo development.Various researches have linked mitochondrial mishaps like oxidative stress,ROS production and mt-DNA copy number variations to autism.Despite dramatic advances in autism research worldwide,the studies focusing on mitochondrial dysfunction in autism is rather minimal,especially in India.India,owing to its rich diversity,may be able to contribute significantly to autism research.It is vital to urge more studies in this domain as it may help to completely understand the basics of the condition apart from a genetic standpoint.This review focuses on the worldwide and Indian scenario of autism research;mitochondrial abnormalities in autism and possible therapeutic approaches to combat it.

关键词： autism Copy number variation(CNV) Mitochondria encoded genes Neurodevelopmental disorder World-wide scenario

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Rational use of mesenchymal stem cells in the treatment of autism spectrum disorders

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World Journal of Stem Cells 2019年第2期11卷 55-72页

作者： Qiang Liu Mo-Xian Chen Lin Sun Chloe U Wallis Jian-Song Zhou Li-Juan Ao Qi Li Pak C Sham Department of Surgery The Chinese University of Hong Kong School of Rehabilitation Kunming Medical University Department of Psychology Weifang Medical University Medical Sciences Division University of Oxford Mental Health Institute of the Second Xiangya Hospital Central South University Department of Psychiatry the University of Hong Kong State Key Laboratory of Brain and Cognitive Sciences Center for Genomic Sciences the University of Hong Kong

autism and autism spectrum disorders(ASD) refer to a range of conditions characterized by impaired social and communication skills and repetitive behaviors caused by different combinations of genetic and environmental influences. Although the pathophysiology underlying ASD is still unclear, recent evidence suggests that immune dysregulation and neuroinflammation play a role in the etiology of ASD. In particular, there is direct evidence supporting a role for maternal immune activation during prenatal life in neurodevelopmental conditions. Currently, the available options of behavioral therapies and pharmacological and supportive nutritional treatments in ASD are only symptomatic. Given the disturbing rise in the incidence of ASD, and the fact that there is no effective pharmacological therapy for ASD, there is an urgent need for new therapeutic options. Mesenchymal stem cells(MSCs) possess immunomodulatory properties that make them relevant to several diseases associated with inflammation and tissue damage. The paracrine regenerative mechanisms of MSCs are also suggested to be therapeutically beneficial for ASD.Thus the underlying pathology in ASD, including immune system dysregulation and inflammation, represent potential targets for MSC therapy. This review willfocus on immune dysfunction in the pathogenesis of ASD and will further discuss the therapeutic potential for MSCs in mediating ASD-related immunological disorders.

关键词： autism spectrum disorders Mesenchymal stem cells Major histocompatibility complex Inflammation Maternal immune activation Cell therapy

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