自闭症最新研究进展–记美中医学交流学会专题演讲
自闭症,又称孤独症,是近代增长最快的儿童发育异常疾患,六十年代总发病率仅为千分之零点一,极为罕见,而近年来已增至千分之六,每110名美国儿童中就有一名儿童不幸为自闭症患者。其患者、患者家庭、社区以及社会正经受着越来越严重的痛苦和挑战,同时也给全世界的医务工作者提出了越来越迫切的要求:何以会产生自闭症症状?可以治愈自闭症吗?美中医学交流学会与八月二十一日在Mclean医院主办的“自闭症2011年生物医学进展”的专题学术会议在遗传学、大脑影像学,生化指标,病因检测、诊断、主流治疗及替代性治疗等方面对自闭症展开了系统全面的探讨和交流,并提供了最新的研究成果。会议长达八个小时,来自波士顿地区的医学专业人员,研究人员,社会工作者及自闭症家长约80名出席会议,会间提问踊跃,气氛异常热烈。
这次会议分为上、下两部分,专家、学者讲完后随即有一个由全体讲员参与的座谈会回答问题。会议由史菊芳博士主持。美中医学交流学会会长孔学君医师在开场致辞时简要回顾了美中医学交流学会的宗旨、资源、项目、团队、重要学术交流活动以及旗下两本中英文学术刊物的发展以及近期内容。
首先发言的是堪萨斯州大平原实验室主任William Shaw 博士。他的题目是“自闭症的实验室检测”。大平原实验室可以通过自闭症患者的尿、血、头发等对体内有机酸、氨基酸、脂肪酸、胆固醇等的含量、成分展开最先进的多元检测手段,他们还研制出了治疗自闭症的胆固醇药片。记者注意到Shaw 博士在网上他的自我介绍中提到他也是一位自闭症儿童的继父。于是在随后与Shaw 博士的交谈中关注到这事。Shaw 博士告诉记者,他对继女近距离的观察和切身的感受非常有助于他对自闭症的研究兴趣,同时他的继女也得益于他的研究成果。比如他通过检测知道她女儿胆固醇缺乏,但她对鸡蛋过敏 ,因此她就服用他们研制出来的胆固醇药片,她女儿原来下午就开始睡觉,一天可以睡上十五、六个小时,治疗后睡觉恢复了正常。
基因分析领域的专家,哈佛医学院波士顿儿童医院遗传研究室主任和基因诊断实验室医学主任,吴柏林教授随后在题为“自闭症基因研究进展”的报告中介绍了他的研究团队及其合作者在自闭症基因和基因组学以及分子病理学方面的最新成果,比如候选基因NRNX1基因缺失的重复发生与ASD和神经发育障碍之间的关系,候选基因SHANK3基因突变的功能研究等。吴柏林教授研究的一个显著特点是与中国的密切合作。他的患者样本中有中国的患者,他的合作研究者中有中国的学者,他的学生包括中国学生,他在头衔也包括在中国的头衔-复旦大学特聘教授。他牵头、申办并共同主持的以推动中国对自闭症的基础和临床研究为宗旨的2008年上海“东方科技论坛”(131期) 和2010年北京“香山科学论坛”(369期) 均取得了科学界和医学界瞩目的成功。他对记者感慨中国在这方面的快速发展和科研投入,并对与中国合作走在自闭症基因研究前列充满着信心。
哈佛医学院生物医学图像Athinoula A. Martinos中心,语言发展与阅读研究实验室的Maria Mody教授演讲的主要内容是自闭症患者语言及认知的脑功能神经影像学进展,包括功能性核磁共振的研究成果。在所有的演讲内容中,她介绍的内容似乎有些“远离”“医学”。在她巧妙设计的实验中,颇有些智力推理的味道。所有观众都兴致勃勃地思索、回答那些由自闭症患者回答的问题,那些问题既有趣又有些挑战性尤其是在有时间限制的条件下。同是哈佛医学院的詹有根博士指出突触功能异常可以引起自闭症,遗传学研究已经找到很多证据证明很多基因突变与突触功能有关,并且在动物身上也得到了验证。
下部分会议由波士顿大学听说语言系的Karen Chenansky开头。她介绍的重点是对自闭症中听觉过敏者的有效治疗。这种治疗基本属于行为疗法,让患者置身于“人声频段”内的声音刺激中,变换频率和音调等。这一行为疗法的优点在于治疗停止30周后,仍能维持良好的效果,不需要额外的费用,没有副作用。纽约州立大学Buffalo医学院儿童神经病学系助理教授,Buffalo妇女儿童医院,儿童自闭症中心主任Michelle Hartley-McAndrew医师在自闭症神经生物基础综述的主题下,从历史到现状、理论到实践为听众展现了一个相当系统的自闭症研究全貌。令人感触和佩服的是Hartley-McAndrew博士从Buffalo驱车到的波士顿,没有一点耽搁。
在哈佛医学院,贝丝以色列医院,精神病学系任助理教授,神经心理培训与临床部主任的心理医生William Stone博士致力于鉴定导致主要精神疾病的有关认知、临床和生物的风险因素,并尤其擅长对精神分裂症的研究。 他全方位地探索了自闭症和精神分裂症的重叠之处,发现两者在基因机制、脑损伤、社会认知、语言、记忆和非语言推理等方面都有相当程度的相似之处,也难怪七十年代以前自闭症和精神分裂症被视为同一种疾病。Stone博士最后指出也许这两种疾病和其它一些诸如多动症,双重人格等疾病均属于一种更为包容的基本系统。
在剑桥Marino 中心从医的刘京博士的报告发出了另外一种声音,与传统的西方医学理论、实践不同的声音。他没有从基因、大脑、生物等角度来看待自闭症,相反的是他指出炎症是自闭症的原因。自闭症抗炎疗法有五个基本方法:营养,抗氧化,中草药,肠胃微平衡以及针灸。电针灸在34个自闭症临床病例中使70-80%的症状得到了改善。刘博士会后告诉记者他目前正在全力写一本书,中心的意思是几乎所有疾病的起因都有炎症在作崇。他也认为当前中国学习西方时,也要同时学习西方替代性或补充性医学方法的观念。
最后发言的是哈佛医学院贝丝以色列医院的主治医师孔学君博士。她介绍的是目前自闭症的最新疗法-干细胞疗法。她阐述了干细胞可以同时纠正自闭症两大病理生理改变:大脑特定区域缺血缺氧状况及自身免疫性炎症变化,具有广阔的治疗前景。然而,技术上及临床实施上仍然存在诸多困难。需要设置有效的动物及人体试验使之成为自闭症这一世纪之谜的有效治疗,给成千上万的自闭症患者及家庭带来福音。
孔学君医师是美中医学交流学会的主要创始人和会长,英文学术刊物“North American Journal of Medicine & Science ”和中文学术刊物“北美医学与健康”的创始人和主编,她的主要兴趣在于亚裔健康和自闭症。她近期主编出版的英文杂志第十二期为自闭症专刊,收录了十篇高质量的自闭症学术论文 (www.najms.net , www.najmed.org )。这次自闭症会议她特地邀请了自闭症专刊的作者及编委作为报告人。会议结束时,孔医师邀请学会副会长林旭医师及吴晓芸女士为讲演者颁奖。奖品是每人十本刚出版的80多页的彩色精装自闭症专刊,及上两期的中英文杂志。与会者也获得人手一份。
在上、下两场报告结束后的小组座谈中,听众纷纷提出问题,请教专家。气氛甚是活络。彼此学术请教、商榷探讨以及信息沟通的热烈气氛一直延续到后面的晚餐。这次会议甚至吸引了两位来自中国社科院的学者。他们非常高兴能在此收获了有关自闭症的最新知识,他们说中国尤其是农村严重缺乏对此的正确认识,儿童长到两、三岁不会讲话也没人管,“不理人” 家长也不在意。真是太应该让更多的中国民众有所了解,美中医学交流学会做的这些的确造福民众(牛江河博士报道)。
“Biomedical Advances of Autism in 2011”Conference was held August 21st 2011 the past Sunday at Mclean Hospital, Belmont, MA, hosted by American Chinese Medical Exchange Society (ACMES, www.acmes.net ). Total about 80 medical professionals and parents attended. The theme is on diagnostics and biomedical advances in Autism. The goals of this conference are two folded: to celebrate the Autism Special Issue published in NAJ Med Sci July 2011( North American Journal of Medicine & Science (www.najms.net or www.najmed.org ) , and to have Autism experts and contributing authors to share most recent advances and dialogue with interested audience.
The conference speakers are from different but related to ASD, including Autism book authors, researchers, speech therapists, clinicians, geneticist, professors, and industrial leaders.
Dr. Shaw is board certified in clinical chemistry and toxicology by the American Board of Clinical Chemistry. He is the author of Biological Treatments for Autism and PDD, originally published in 1998 and Autism: beyond the Basics, published in 2009. His talk is about “Laboratory testing used in the Autism Spectrum Disorders”. He described 72 organic acids, including amino acid and kreb fatty acid, immune globins’ profile, toxins markers, infectious antibodies, heavy metal and zinc/copper ratio, and cholesterol profile. He is a founder of Great Plain Lab. It specializes in Autism Spectral Disorder Diagnostics products and services.
Dr. Bailin Wu, PhD, Director of Genetic lab, Children Hospital of Boston, Assistant Professor of Harvard Medical School. He presented “Genetic Advance in Autism”. He and his collaborators use genetic/genomic markers to characterize ASD genetic markers. It would not be as easy tasks, as Dr. Wu stated he took global initiatives and lead a collaborative effort between his lab at Harvard and his collaborators in Fudan University at Shanghai. The goal is to define about 300 CNVs through whole genome approach for ASD diagnostics. The 300 CNVs would be feasible by Microarray. Microarray has recognized as first line for genetics diagnostic tool.
Dr. Maria Mody is a developmental neuroscientist at the MGH Athinoula A Martinos Center of Biomedical Imaging and an Assistant Professor of Radiology at Harvard Medical School. She uses a combination of functional MRI and magnetoencephalography (MEG) to investigate a variety of cognitive processes, including language, attention and executive function in children with dyslexia and autism as well as in typical development. She is a reviewer for several journals and her work has been presented both nationally and internationally. She spoke about her research on visuospatially-mediated language processing and the under connectivity hypothesis in high-functioning autism.
Dr. Yougen Zhan, MD, PhD. Is a post-doctoral neurobiologist in the Department of Cell Biology, Harvard Medical School, and Brigham and Women’s Hospital. His research interest is neurodevelopment and disease mechanisms. He presented his view on how Synaptic Dysfunction implicated in Autism, and how multiple genetic proteins interacted at synapse.
Karen Chenansky, MS, CCC-SLP. Boston University, Department of Speech, Language and Hearing Science. Ms Chenausky has been a speech scientist since 1994. By inputting her clinical and teaching skill together, she is currently writing her Ph.D. dissertation in speech pathology at Boston University on the acoustics of pre-speech babbling in autistic and typical children. She presented “Effective Treatment of Auditory Hypersensitivity in Autism”
Dr. Stone is the Director of Neuropsychology Training and Clinical Services, MMHC; Director of Neuropsychology Fellowship Program at MMHC and BIDMC; and Assistant Professor of Psychology, Harvard Medical School, staff clinical psychologist of department of psychiatry, Beth Israel Deaconess Medical Center. His presentation on “Overlap in Schizophrenia and autistic spectrum disorders”. Dr. Stone gave details on how those two disorders share similarity and differences at cognitive, clinical and biological level, how those similarities and differences affect interventions that will alter or prevent the trajectory to Autism and Schizophrenia.
Dr. Michelle Hartley-McAndrew, MD is the medical director of the Children’s Guild Autism Spectrum Disorder Center at the Women and Children’s Hospital of Buffalo. She also is a Clinical Assistant professor of Child Neurology at the University at Buffalo. She gave A Review of the Neurolobiological Basis of Autism. Those Nuerobiogical basese includes disorder in local intra-cortical connections, cortico-cortical connections and cortico-subcortical connections, genetic synaptic dysfunction, disorder of aberrant neural connectivity, deficit in cortical inhibition, mitochodrial disorde. She explores the relationship between elipesy and autism.
Dr. Jing Liu, MD, PhD, Lis Ac from Mass General Hospital and Marino Center for Progressive Health. Dr. Liu presented “Advances in Alternative Treatment of Autism”. He examined inflammation, nutrient, and acupuncture approach to treat ASD.
Xuejun (June )Kong, MD, Department of Medicine, Beth Israel Deaconess Medical Center, Instructor, Harvard Medical School, also the founder and chief editor of NAJMS and president of ACMES. She presented “Prospect of Stem Cell Therapy for Autism Spectrum Disorders” The stem cell approach for autism has sound rationale including using stem cell target two major pathological etiological factors, brain hypo perfusion and immune dysfunctions. Dr. Kong also stated there are technological barriers to overcome before reaching to the clinical success and benefit thousands of affected individuals.
The conference was wrapped with good feedback, and many look forward to more to come, every attendee received complimentary copies of newly published color print of 80 page special autism issue of NAJMS, the publisher is calling the next autism issue next April. The conference was moderated by Drs. June Kong and Shirley Shi. ( written by Shirley Shi, PhD, RPh)