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CONTENTS Neuroscience Bulletin About the Cover Head to head Children of the Stars; this is what Hand in hand we call children with autism. We lean on each other Parents try every way to reach and In this blue night understand their world. Scientists try Stars twinkle, moonlight hazy every way to study and understand We lean on each other the disorder. In this Special Issue Me and you, share the same dream on Autism Spectrum Disorder, we Travel together on an unknown journey present a collection of articles on the Enjoy together a bowl of cold soft cake developmental mechanism, recent at the shop of childhood technological advancement, and clinical evaluation (especially in In this blue night China) of autism spectrum disorder. Stars twinkle, moonlight hazy We are honored that Jingkang Me and you, share the same dream Xiao, a talented young painter, has —— Translation of Ms. Wen Zou's poem contributed in his unique way by for the cover image providing this cover image for the special issue. drawn by Mr. Jingkang Xiao Volume 33 Number 2 April 2017 Editorial 125 Recent Research Progress in Autism Spectrum Disorder Xiang Yu · Zilong Qiu · Dai Zhang Original Articles 130 A Volumetric and Functional Connectivity MRI Study of Brain Arginine-Vasopressin Pathways in Autistic Children Xiao-Jing Shou · Xin-Jie Xu · Xiang-Zhu Zeng · Ying Liu · Hui-Shu Yuan · Yan Xing · Mei-Xiang Jia · Qing-Yun Wei · Song-Ping Han · Rong Zhang · p 130 Ji-Sheng Han 143 Distinct Defects in Spine Formation or Pruning in Two Gene Duplication Mouse Models of Autism Miao Wang · Huiping Li · Toru Takumi · Zilong Qiu · Xiu Xu · Xiang Yu · Wen-Jie Bian www.neurosci.cn CONTENTS 153 Sex Differences in Diagnosis and Clinical Phenotypes of Chinese Children with Autism Spectrum Disorder Shihuan Wang · Hongzhu Deng · Cong You · Kaiyun Chen · Jianying Li · Chun Tang · Chaoqun Ceng · Yuanyuan Zou · Xiaobing Zou 161 Chinese Norms for the Autism Spectrum Rating Scale Hao Zhou · Lili Zhang · Xiaobing Zou · Xuerong Luo · Kun Xia · Lijie Wu · Yimin Wang · Xiu Xu · Xiaoling Ge · Yong-hui Jiang · Eric Fombonne · Weili Yan · Yi Wang 168 Assessing the Accuracy of the Modified Chinese Autism Spectrum Rating Scale and Social Responsiveness Scale for Screening Autism Spectrum Disorder in Chinese Children Bingrui Zhou · Hao Zhou · Lijie Wu · Xiaobing Zou · Xuerong Luo · Eric Fombonne · Yi Wang · Weili Yan · Xiu Xu 175 Modifying the Autism Spectrum Rating Scale (6–18 years) to a Chinese Context: An Exploratory Factor Analysis Hao Zhou · Lili Zhang · Xuerong Luo · Lijie Wu · Xiaobing Zou · Kun Xia · Yimin Wang · Xiu Xu · Xiaoling Ge · Yong-hui Jiang · Eric Fombonne · Weili Yan · Yi Wang p 143 Reviews 183 An Overview of Autism Spectrum Disorder, Heterogeneity and Treatment Options Anne Masi · Marilena M. DeMayo · Nicholas Glozier · Adam J. Guastella 194 The Immune System, Cytokines, and Biomarkers in Autism Spectrum Disorder Anne Masi · Nicholas Glozier · Russell Dale · Adam J. Guastella 205 Cellular and Circuitry Bases of Autism: Lessons Learned from the Temporospatial Manipulation of Autism Genes in the Brain Samuel W. Hulbert · Yong-hui Jiang CONTENTS Neuroscience Bulletin 219 Candidate Biomarkers in Children with Autism Spectrum Disorder: A Review of MRI Studies Dongyun Li · Hans-Otto Karnath · Xiu Xu 238 Genes Related to Oxytocin and Arginine-Vasopressin Pathways: Associations with Autism Spectrum Disorder Rong Zhang · Hong-Feng Zhang · Ji-Sheng Han · Song-Ping Han 247 Non-human Primate Models for Brain Disorders – Towards Genetic Manipulations via Innovative Technology Zilong Qiu · Xiao Li Letter to the Editor 251 Identification of the Genetic Cause for Childhood Disintegrative Disorder by Whole-Exome Sequencing Zhu Wen · Tian-Lin Cheng · Da-Zhi Yin · Shi-Bang Sun · Zheng Wang · Shun- Ying Yu · Yi Zhang · Zilong Qiu · Ya-Song Du Editor's Note —— Yefei Li We the editorial team would like to express our gratitude to Mr. Jingkang Xiao and his loving mother Ms. Wen Zou, for their generous offer of Jingkang's drawing to be the cover of this special issue. Jingkang Xiao, also known as Kangkang, was born in 1998 and diagnosed as having typical autism with intellectual disability. He could only say the word “mama” when four-and-a-half years old. Like an angel from outer space, he is progressing slowly but steadily every day, every year. He speaks, goes to school, and takes public transportation; he has learned to swim, play basketball, run 5 km, go shopping, play video games on a computer, paint, play piano and cucurbit flute, make toast, and cook. All these little activities that are normal in others’ eyes are, to Kangkang’s parents, magnificent achievements and have brought tremendous joy. At the age of 15, Kangkang played “You and me” on the cucurbit flute at the opening ceremony of the “Sino-Japanese Autistic Children’s Painting Exhibition” in Tokyo, as a representative of young Chinese autistic painters. Kangkang was called “a healing little painter” when his story was reported by CCTV news. Kangkang enjoys painting and is even more enthusiastic about cuisine. He wants to be a great chef, and enjoy delicious food worldwide. Through sharing the story of the young man here, we hope to raise more attention to the disease itself and more importantly, the patients and their families' well-being. Neurosci. Bull. April, 2017, 33(2):125–129 www.neurosci.cn DOI 10.1007/s12264-017-0117-2 www.springer.com/12264 EDITORIAL Recent Research Progress in Autism Spectrum Disorder 1,2,3 1,2 4,5,6 Xiang Yu • Zilong Qiu • Dai Zhang Received: 20 February 2017 / Accepted: 21 February 2017 / Published online: 11 March 2017 Ó Shanghai Institutes for Biological Sciences, CAS and Springer Science+Business Media Singapore 2017 On April 2, 2017, the world will celebrate the ninth annual United States and the United Kingdom is estimated to be World Autism Awareness Day. In honor of this occasion, billions of dollars [2, 3]. Neuroscience Bulletin has put together a Special Issue of The term ‘‘autism’’, deriving from the Greek words reviews and primary research articles focusing on autism ‘‘autos’’ (self) and ‘‘ismos’’ (action), was first used by Leo spectrum disorder (ASD). ASD is a heterogeneous devel- Kanner in his landmark paper in 1943 [4] to describe opmental neurological disorder characterized by deficits in children with an ‘‘extreme inability to relate to others’’. In social communication and social interactions, as well as the introductory review ‘‘An overview of autism spectrum stereotyped, repetitive behavior and/or restricted interests disorder, heterogeneity and treatment options’’ [5], Masi [1]. In addition, affected individuals often have sensory et al. revisit the history of the diagnosis and characteriza- abnormalities and delayed/absent language. The symptoms tion of ASD, from Kanner’s time to the currently-used are present from early childhood, affecting the individual’s Fifth Edition of the Diagnostic and Statistical Manual of daily activity and imposing a huge burden on their families Mental Disorders [1]. The review progresses to describe and the community at large. While the global burden of the prevalence, etiology, and clinical presentation of ASD, ASD is largely unknown, the annual social cost in the and discusses factors contributing to its heterogeneity, including genetic variability, co-morbidity, and gender. It As we put the final touches on this special issue, we are very excited concludes with evidence for pharmacological and behav- that the introductory review has already been downloaded (http://link. ioral treatments, highlighting the complexities of con- springer.com/journal/12264) well over 1600 times. We thank Prof. ducting clinical trials in ASD populations. Shumin Duan, Editor in Chief, for the opportunity to organize this issue at such an exciting time for autism research. The issue could not A key factor behind the emerging interest in ASD is its have come together so quickly without concerted efforts from all apparently growing prevalence. A recent survey of 8-year authors, reviewers and staff members at Neuroscience Bulletin. In old children in the United States estimates ASD occurrence particular, we thank Yefei Li for her enthusiastic and professional to be as high as 1 in 68 [6]. A review of the global assistance. & Xiang Yu 3 School of Life Science and Technology, ShanghaiTech [email protected] University, Shanghai 201210, China & Zilong Qiu 4 Institute of Mental Health, Peking University Sixth Hospital, [email protected] Beijing 100191, China & Dai Zhang 5 Peking-Tsinghua Center for Life Sciences, Peking [email protected] University, Beijing 100871, China 6 1 Institute of Neuroscience, State Key Laboratory of PKU-IDG/McGovern Institute for Brain Research, Peking Neuroscience, Center for Excellence in Brain Science and University, Beijing 100871, China Intelligence Technology, Chinese Academy of Sciences, Shanghai 200031, China 2 University of Chinese Academy of Sciences, Beijing 100049, China 123 126 Neurosci. Bull. April, 2017, 33(2):125–129 prevalence of autism and other pervasive developmental phenotypes of ASD could help provide better clinical disorders puts the median estimate of ASD prevalence at guidance for early screening, diagnosis, and intervention. the slightly lower rate of 62/10,000 [7], with variations ASD is a heterogeneous disorder with a complex genetic between studies, but no obvious evidence for differences in basis. Early twin and family studies have shown that ASD prevalence between geographic regions and/or ethnicities. is highly heritable [15], suggesting a strong genetic pre- This global report [7], commissioned by the World Health disposition. In addition to inherited mutations, recent Organization, notes that changes in diagnostic concepts, advances in genetics and genomics have identified a large service availability, and awareness of ASD may affect number of de novo copy-number variations and single- prevalence estimates, and highlights the scarcity of epi- base-pair mutations in ASD patients, increasing the esti- demiological studies from low- and middle-income mated proportion of patients with identifiable genetic countries.