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Regional cerebral blood flow in children with autism spectrum disorders： a quantitative 99mTc-ECD brain SPECT study with statistical parametric mapping evaluation

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Chinese Medical Journal 2011年第9期124卷 1362-1366页

作者： YANG Wen-han JING Jin XIU Li-juan CHENG Mu-hua WANG Xin BAO Peng WANG Qing-xiong Faculty of Child and Maternal Health School of Public Health Sun Yat-sen University Guangzhou Guangdong 510080 China 3rd Affiliated Hospital Sun Yat-sen University Guangzhou Guangdong 510080 China Department of Health Care Guangzhou Women and Children's Medical Center Guangzhou Guangdong 510623 China

Background autism spectrum disorders （ASD）, which include autism, asperger syndrome （AS） and pervasive developmental disorder-not otherwise specified （PDD-NOS）, are devastating neurodevelopmental disorders of childhood resulting in deficits in social interaction, repetitive patterns of behaviors, and restricted interests and activities. Single photon emission computed tomography （SPECT） is a common technique used to measure regional cerebral blood flow （rCBF）. Several studies have measured rCBF in children with ASD using SPECT, however, findings are discordant. In addition, the majority of subjects used in these studies were autistic. In this study, we aimed to investigate changes in rCBF in children with ASD using SPECT.Methods A Technetium-99m-ethyl cysteinate dimmer （99mTc-ECD） brain SPECT study was performed on an ASD group consisting of 23 children （3 girls and 20 boys; mean age （7.2±3.0） years） who were diagnosed according to Diagnostic and Statistical Manual of Mental disorders, 4th edition （DSM-Ⅳ） criteria and an age-matched control group with 8children （1 girl and 7 boys, mean age （5.5±2.4） years）. Image data were evaluated with Statistical Parametric Mapping,5th version （SPM5）. A Student＇s t test for unpaired data was used to compare rCBF and asymmetry in the autism and corresponding control group. The covariance analysis, taking age as covariance, was performed between the ASD and control group.Results There was a significant reduction in rCBF in the bilateral frontal lobe （frontal poles, arcula frontal gyrus） and the bilateral basal ganglia in the autism group, and a reduction in the bilateral frontal, temporal, parietal, legumina nucleus and cerebellum in the AS group compared to the control. In addition, asymmetry of hemispheric hypoperfusion in the ASD group was observed. Inner-group comparison analysis revealed that rCBF decreased significantly in the bilateral frontal lobe （42.7%）, basal nucleus （24.9%） and temporal lobe （22.8%） in the autism group, and in the bilateral cerebellum （22.8%）, basal

关键词： autism spectrum disorders single photon emission computed tomography regional cerebral blood flow

Comparison of gut microbiota in autism spectrum disorders and neurotypical boys in China:A case-control study

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Synthetic and Systems Biotechnology 2021年第2期6卷 120-126页

作者： Fang Ye Xinying Gao Zhiyi Wang Shuman Cao Guangcai Liang Danni He Zhitang Lv Liming Wang Pengfei Xu Qi Zhang Department of Pediatrics China-Japan Friendship HospitalBeijingChina Institute of Microbiology Chinese Academy of SciencesBeijingChina College of Life Sciences Institute of Life Science and Green DevelopmentKey Lab of Microbial Diversity Research and Application of Hebei ProvinceHebei UniversityBaodingChina Clinical Research Institute China-Japan Friendship HospitalBeijingChina

Background:autism spectrum disorders(ASDs)are a set of complex neurobiological disorders.Growing evidence has shown that the microbiota that resides in the gut can modulate brain development via the gut–brain axis.However,direct clinical evidence of the role of the microbiota–gut–brain axis in ASD is relatively limited.Methods:A case-control study of 71 boys with ASD and 18 neurotypical controls was conducted at China-Japan Friendship Hospital.Demographic information and fecal samples were collected,and the gut microbiome was evaluated and compared by 16S ribosomal RNA gene sequencing and metagenomic sequencing.Results:A higher abundance of operational taxonomic units(OTUs)based on fecal bacterial profiling was observed in the ASD group.Significantly different microbiome profiles were observed between the two groups.At the genus level,we observed a decrease in the relative abundance of Escherichia,Shigella,Veillonella,Akkermansia,Provindencia,Dialister,Bifidobacterium,Streptococcus,Ruminococcaceae UCG_002,Megasphaera,Eubacterium_coprostanol,Citrobacter,Ruminiclostridium_5,and Ruminiclostridium_6 in the ASD cohort,while Eisenbergiella,Klebsiella,Faecalibacterium,and Blautia were significantly increased.Ten bacterial strains were selected for clinical discrimination between those with ASD and the neurotypical controls.The highest AUC value of the model was 0.947.Conclusion:Significant differences were observed in the composition of the gut microbiome between boys with ASD and neurotypical controls.These findings contribute to the knowledge of the alteration of the gut microbiome in ASD patients,which opens the possibility for early identification of this disease.

关键词： autism spectrum disorders Gut microbiome China

Transcriptional regulation in the development and dysfunction of neocortical projection neurons

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Neural Regeneration Research 2024年第2期19卷 246-254页

作者： Ningxin Wang Rong Wan Ke Tang Precise Genome Engineering Center School of Life SciencesGuangzhou UniversityGuangzhouGuangdong ProvinceChina

Glutamatergic projection neurons generate sophisticated excitatory circuits to integrate and transmit information among different cortical areas,and between the neocortex and other regions of the brain and spinal cord.Appropriate development of cortical projection neurons is regulated by certain essential events such as neural fate determination,proliferation,specification,differentiation,migration,survival,axonogenesis,and synaptogenesis.These processes are precisely regulated in a tempo-spatial manner by intrinsic factors,extrinsic signals,and neural activities.The generation of correct subtypes and precise connections of projection neurons is imperative not only to support the basic cortical functions(such as sensory information integration,motor coordination,and cognition)but also to prevent the onset and progression of neurodevelopmental disorders(such as intellectual disability,autism spectrum disorders,anxiety,and depression).This review mainly focuses on the recent progress of transcriptional regulations on the development and diversity of neocortical projection neurons and the clinical relevance of the failure of transcriptional modulations.

关键词： autism spectrum disorders cognition differentiation excitatory circuits intellectual disability neocortex neurodevelopmental disorders projection neuron specification transcriptional regulation

Targeted sequencing and integrative analysis of 3,195 Chinese patients with neurodevelopmental disorders prioritized 26 novel candidate genes

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Journal of Genetics and Genomics 2021年第4期48卷 312-323页

作者： Tao Wang Yi Zhang Liqui Liu Yan Wang Huiqian Chen Tianda Fan Jinchen Li Kun Xia Zhongsheng Sun Center for Medical Genetics&Hunan Key Laboratory of Medical Genetics School of Life SciencesCentral South UniversityChangshaHunan 410083China Beijing Institutes of Life Science Chinese Academy of SciencesBeijing 100101China DIAGenes Precision Medicine Beijing 102600China National Clinical Research Centre for Geriatric disorders Department of GeriatricsXiangya HospitalCentral South UniversityChangshaHunan 410083China Shanghai Adeptus Biotechnology Shanghai 200126China Institute of Genomic Medicine Wenzhou Medical UniversityWenzhouZhejiang 325035China Department of Neurology Xiangya HospitalCentral South UniversityChangsha Hunan410083China CAS Center for Excellence in Brain Science and Intelligences Technology(CEBSIT) Shanghai 200031China School of Basic Medical Science Central South UniversityChangshaHunan410083China CAS Center for Excellence in Biotic Interactions University of Chinese Academy of SciencesBeijing 100049China State Key Laboratory of Integrated Management of Pest Insects and Rodents Chinese Academy of SciencesBeijing 100101China

Neurodevelopmental disorders(NDDs)are a set of complex disorders characterized by diverse and cooccurring clinical symptoms.The genetic contribution in patients with NDDs remains largely unknown.Here,we sequence 519 NDD-related genes in 3,195 Chinese probands with neurodevelopmental phenotypes and identify 2,522 putative functional mutations consisting of 137 de novo mutations(DNMs)in 86 genes and 2,385 rare inherited mutations(RIMs)with 22 X-linked hemizygotes in 13 genes,2 homozygous mutations in 2 genes and 23 compound heterozygous mutations in 10 genes.Furthermore,the DNMs of16,807 probands with NDDs are retrieved from public datasets and combine in an integrated analysis with the mutation data of our Chinese NDD probands by taking 3,582 in-house controls of Chinese origin as background.We prioritize 26 novel candidate genes.Notably,six of these genes d ITSN1,UBR3,CADM1,RYR3,FLNA,and PLXNA3 d preferably contribute to autism spectrum disorders(ASDs),as demonstrated by high co-expression and/or interaction with ASD genes confirmed via rescue experiments in a mouse model.Importantly,these genes are differentially expressed in the ASD cortex in a significant manner and involved in ASD-associated networks.Together,our study expands the genetic spectrum of Chinese NDDs,further facilitating both basic and translational research.

关键词： De novo mutations X-linked variants Rare inherited variants Homozygous mutations Neurodevelopmental disorders autism spectrum disorders Candidate genes

Structure and function of the contactin-associated protein family in myelinated axons and their relationship with nerve diseases

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Neural Regeneration Research 2017年第9期12卷 1551-1558页

作者： Yan Zou Wei-feng Zhang Hai-ying Liu Xia Li Xing Zhang Xiao-fang Ma Yang Sun Shi-yi Jiang Quan-hong Ma De-en Xu Department of Neurology The Second People's Hospital of Wuxi

The contactin-associated protein （Caspr） family participates in nerve excitation and conduction, and neurotransmitter release in myelinated axons. We analyzed the structures and functions of the Caspr family- CNTNAP1 （Casprl）, CNTNAP2 （Caspr2）, CNTNAP3 （Caspr3）, CNTNAP4 （Caspr4） and CNTNAP5 （Caspr5）, Casprl-5 is not only involved in the formation of myelinated axons, but also participates in maintaining the stability of adjacent connections. Casprl participates in the formation, differentiation, and proliferation of neurons and astrocytes, and in motor control and cognitive function. We also analyzed the relationship between the Caspr family and neurodegenerative diseases, multiple sclerosis, and autoimmune encephalitis. However, the effects of Caspr on disease course and prognosis remain poorly understood. The effects of Caspr on disease diagnosis and treatment need further investigation.

关键词： nerve regeneration contactin-associated protein family myelinated axon structure function Alzheimer＇s disease multiple sclerosis autism spectrum disorders neurodegeneration neural regeneration

Ultrasonic vocalizations in mice: relevance for ethologic and neurodevelopmental disorders studies

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Neural Regeneration Research 2021年第6期16卷 1158-1167页

作者： Marika Premoli Maurizio Memo Sara Anna Bonini Department of Molecular and Translational Medicine University of BresciaViale Europa 11BresciaItaly

Mice use ultrasonic vocalizations(USVs)to communicate each other and to convey their emotional state.USVs have been greatly characterized in specific life phases and contexts,such as mother isolation-induced USVs for pups or female-induced USVs for male mice during courtship.USVs can be acquired by means of specific tools and later analyzed on the base of both quantitative and qualitative parameters.Indeed,different ultrasonic call categories exist and have already been defined.The understanding of different calls meaning is still missing,and it will represent an essential step forward in the field of USVs.They have long been studied in the ethological context,but recently they emerged as a precious instrument to study pathologies characterized by deficits in communication,in particular neurodevelopmental disorders(NDDs),such as autism spectrum disorders.This review covers the topics of USVs characteristics in mice,contexts for USVs emission and factors that modulate their expression.A particular focus will be devoted to mouse USVs in the context of NDDs.Indeed,several NDDs murine models exist and an intense study of USVs is currently in progress,with the aim of both performing an early diagnosis and to find a pharmacological/behavioral intervention to improve patients’quality of life.

关键词： autism spectrum disorders behavioral phenotyping emotional state environmental modulation maternal immune activation mouse models neurodevelopmental disorders social context ultrasonic communication vocalizations classification

Genomic landscapes of Chinese sporadic autism spectrum disordersrevealed by whole-genome sequencing

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Journal of Genetics and Genomics 2018年第10期45卷 527-538页

作者： Jinyu Wu Ping Yu Xin Jin Xiu Xu Jinchen Li Zhongshan Li Mingbang Wang Tao Wang Xueli Wu Yi Jiang Wanshi Cai Junpu Mei Qingjie Min Qiong Xu Bingrui Zhou Hui Guo Ping Wang Wenhao Zhou Zhengmao Hu Yingrui Li Tao Cai Yi Wang Kun Xia Yong-Hui Jiang Zhong Sheng Sun Institute of Genomic Medicine Wenzhou Medical UniversityWenzhou 325000China BGI-Shenzhen Shenzhen 518083China Department of Child Healthcare Children's Hospital of Fudan UniversityShanghai 200032China State Key Laboratory of Medical Genetics Central South UniversityChangsha 410078China Beijing Institutes of Life Science Chinese Academy of SciencesBeijing 100101China Department of Pediatrics and Neurobiology Duke University School of MedicineDurhamNC 27710USA

autism spectrum disorder (ASD) is a neurodevelopmental disorder with considerable clinical and genetic heterogeneity.In this study,we identified all classes of genomic variants from whole-genome sequencing (WGS) dataset of 32 Chinese trios with ASD,including de novo mutations,inherited variants,copy number variants (CNVs) and genomic structural variants.A higher mutation rate (Poisson test,Pdisorders may be in favor to multiple-hit.In particular,frequent rare inherited mutations of several microcephaly-associated genes (ASPM,WDR62,and ZNF335)were found in ASD.In chromosomal structure analyses,we found four de novo CNVs and one de novo chromosomal rearrangement event,including a de novo duplication of UBE3A-containing region at 15q11.2-q13.1,which causes Angelman syndrome and microcephaly,and a disrupted TNR due to de novo chromosomal translocation t (1;5) (q25.1;q33.2).Taken together,our results suggest that abnormalities of centrosomal function and chromatin remodeling of the microcephaly-associated genes may be implicated in pathogenesis of ASD.Adoption of WGS as a new yet efficient technique to illustrate the full genetic spectrum in complex disorders,such as ASD,could provide novel insights into pathogenesis,diagnosis and treatment.

关键词： autism spectrum disorders De novo mutations Microcephaly-associated genes Whole-genome sequencing

Anthropometric assessment of a Middle Eastern group of autistic children

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World Journal of Pediatrics 2014年第4期10卷 318-323页

作者： Nagwa A Meguid Wafaa A Kandeel Khaled E Wakeel Aly A El-Nofely Department of Research on Children with Special Needs National Research Centre(NRC)CairoEgypt Department of Biological Anthropology NRCCairoEgypt

Background:Growth abnormalities are uniquely associated with autism spectrum disorders(ASD);however,the extent to which growth abnormalities are present has hardly been investigated.The current study aims to compare the differences in anthropometric parameters in a group of autistic Egyptian children and the healthy normal population.Methods:We recruited 100 children with ASD from the Outpatient Clinic for"Autistic Children"at the Medical Research Hospital of Excellence,National Research Centre in Cairo,Egypt.They were diagnosed by DSM-IV criteria of the American Psychiatric Association,autism Diagnostic Interview-Revised,and Childhood autism Rating Scale.Of these children at age of 3-10 years,71 were males and 29 females.Eight anthropometric parameters were assessed in view of data of the healthy Egyptians of pertinent sex and age.Results:Weight and body mass index increased because of a signifi cant increase in subcutaneous fat thickness.This tendency with a probable decrease in muscle mass was more evident in male or in older children,likely resulting from sedentary life style and food selectivity.Conclusions:The Z head circumference score and its variance signifi cantly increased especially in males or older children,suggesting the relative overgrowth of the brain in a substantial percentage of Egyptian children with autism.We concluded that increased fat composition in Egyptian autistic children with decreased muscle mass necessitates tailoring a specially designed food supplementation program to ameliorate the severity of autism symptoms.

关键词： anthropometry autism spectrum disorders Egypt growth

Evaluating autism in a Chinese population:the Clinical autism Diagnostic Scale

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World Journal of Pediatrics 2014年第2期10卷 160-163页

作者： Grace Hao Thomas L Layton Xiao-Bing Zou Dong-Yun Li Department of Allied Professions North Carolina Central University710 Cecil StreetDurhamNC 27707USA T and T Communication Services Inc.100 Meredith DriveSuite 100DurhamNC 27713USA Children Development and Behavior Center Third Affi liated Hospital to Sun Yet-sen UniversityNo 600 Tianhe RoadGuangzhou 510630China

Background:The purpose of this study was to report on the psychometric measures and discriminatory function of a new diagnostic test for autism spectrum disorders,the Clinical autism Diagnostic Scale(CADS).Methods:The CADS was used to test 216 children in the study,including 86 with low-functioning autism specturm disorders(ASD),16 children with highfunctioning ASD,16 with pervasive developmental disorder,not otherwise specified,7 with Asperger syndrome,65 with typical development,11 children with language impairments and 15 with intellectual disabilities.Ages ranged from 38-73 months.Behaviors for the groups were compared across seven domains.Results:The results indicated the instrument was reliable,valid,and successfully differentiated the different groups of children with and without autism.All ASD groups were found to display difficulties in the domains of sensory behaviors and stereotyped behaviors.The play and social domains were found to measure similar underlying concepts of behaviors,while the receptive language and expressive language domains were also found to measure similar underlying-language concepts.The group of children diagnosed as having low-functioning autism performed less well on all tested domains in the instrument than did the other three groups of children with ASD,and these other three groups each also presented unique patterns of behaviors and differed on individual domains.Conclusions:CADS is a reliable and valid test.It successfully differentiates the abilities of children with ASD at different levels of functioning.

关键词： autism spectrum disorders diagnosis rating scale