孤独症的病因分子机制与遗传生物学研究进展

被引:15
作者
康颖 [1 ,2 ]
静进 [1 ,2 ]
机构
[1] 广东药学院临床医学院儿科
[2] 中山大学公共卫生学院妇幼系
关键词
D O I
暂无
中图分类号
R749.94 [儿童精神病];
学科分类号
100205 ;
摘要
<正>儿童孤独症(autism)也称自闭症,是起病于婴幼儿时期的一种严重的广泛性发育障碍。特征为社会交往障碍、语言交流障碍和兴趣范围狭窄、重复或刻板动作。新近研究显示,孤独症在内涵与外延上已远远超出了传统的孤独症模型。分类包括阿斯伯格综合征(Asperger syndrome,AS)、雷特综合征(Rett's syndrome)、非特异性的广泛发育障碍(PDD-NOS)。此外还有些类似表现病症,如脆性X染色体综合征、结节性硬化、苯丙酮尿症等。研究体系倾向将这些统称之为孤独症谱系障
引用
收藏
相关论文
共 19 条
[1]   催产素受体基因与儿童孤独症关系的初步研究 [J].
姜志梅 ;
张丽华 ;
吕智海 ;
郭岚敏 .
中国中西医结合儿科学, 2010, 2 (01) :12-14
[2]  
5-HT2A、5-HT6和APOE基因多态性与儿童孤独症的关联研究[J]. 卢建平,苏林雁,舒明跃,杨志伟,吴怀安,邓小敏,雷映.中国行为医学科学. 2008 (07)
[3]  
Slc25a12 Disruption Alters Myelination and Neurofilaments: A Model for a Hypomyelination Syndrome and Childhood Neurodevelopmental Disorders[J] . Takeshi Sakurai,Nicolas Ramoz,Marta Barreto,Mihaela Gazdoiu,Nagahide Takahashi,Michael Gertner,Nathan Dorr,Miguel A. Gama Sosa,Rita De Gasperi,Gissel Perez,James Schmeidler,Vivian Mitropoulou,H. Carl Le,Mihaela Lupu,Patrick R. Hof,Gregory A. Elder,Joseph D. Buxbaum.Biological Psychiatry . 2010 (9)
[4]   Two genetic variants of CD38 in subjects with autism spectrum disorder and controls [J].
Munesue, Toshio ;
Yokoyama, Shigeru ;
Nakamura, Kazuhiko ;
Anitha, Ayyappan ;
Yamada, Kazuo ;
Hayashi, Kenshi ;
Asaka, Tomoya ;
Liu, Hong-Xiang ;
Jin, Duo ;
Koizumi, Keita ;
Islam, Mohammad Saharul ;
Huang, Jian-Jun ;
Ma, Wen-Jie ;
Kim, Uh-Hyun ;
Kim, Sun-Jun ;
Park, Keunwan ;
Kim, Dongsup ;
Kikuchi, Mitsuru ;
Ono, Yasuki ;
Nakatani, Hideo ;
Suda, Shiro ;
Miyachi, Taishi ;
Hirai, Hirokazu ;
Salmina, Alla ;
Pichugina, Yu A. ;
Soumarokov, Andrei A. ;
Takei, Nori ;
Mori, Norio ;
Tsujii, Masatsugu ;
Sugiyama, Toshiro ;
Yagi, Kunimasa ;
Yamagishi, Masakazu ;
Sasaki, Tsukasa ;
Yamasue, Hidenori ;
Kato, Nobumasa ;
Hashimoto, Ryota ;
Taniike, Masako ;
Hayashi, Yutaka ;
Hamada, Junichiro ;
Suzuki, Shioto ;
Ooi, Akishi ;
Noda, Mami ;
Kamiyama, Yuko ;
Kido, Mizuho A. ;
Lopatina, Olga ;
Hashii, Minako ;
Amina, Sarwat ;
Malavasi, Fabio ;
Huang, Eric J. ;
Zhang, Jiasheng .
NEUROSCIENCE RESEARCH, 2010, 67 (02) :181-191
[5]  
Social Communication Competence and Functional Adaptation in a General Population of Children: Preliminary Evidence for Sex-by-Verbal IQ Differential Risk[J] . David H. Skuse,William Mandy,Colin Steer,Laura L. Miller,Robert Goodman,Kate Lawrence,Alan Emond,Jean Golding.Journal of the American Academy of Child & Adolescent Psychiatry . 2009 (2)
[6]  
Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene[J] . Maricela Alarcón,Brett S. Abrahams,Jennifer L. Stone,Jacqueline A. Duvall,Julia V. Perederiy,Jamee M. Bomar,Jonathan Sebat,Michael Wigler,Christa L. Martin,David H. Ledbetter,Stanley F. Nelson,Rita M. Cantor,Daniel H. Geschwind.The American Journal of Human Genetics . 2008 (1)
[7]   Molecular cytogenetic analysis and resequencing of Contactin Associated Protein-Like 2 in autism spectrum disorders [J].
Bakkaloglu, Betul ;
O'Roak, Brian J. ;
Louvi, Angeliki ;
Gupta, Abha R. ;
Abelson, Jesse E. ;
Morgan, Thomas M. ;
Chawarska, Katarzyna ;
Klin, Ami ;
Ercan-Sencicek, A. Gulhan ;
Stillman, Althea A. ;
Tanriover, Gamze ;
Abrahams, Brett S. ;
Duvall, Jackie A. ;
Robbins, Elissa M. ;
Geschwind, Daniel H. ;
Biederer, Thomas ;
Gunel, Murat ;
Lifton, Richard P. ;
State, Matthew W. .
AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (01) :165-173
[8]   A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism [J].
Arking, Dan E. ;
Cutler, David J. ;
Brune, Camille W. ;
Teslovich, Tanya M. ;
West, Kristen ;
Ikeda, Morna ;
Rea, Alexis ;
Guy, Moltu ;
Lin, Shin ;
Cook, Edwin H., Jr. ;
Chakravarti, Aravinda .
AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (01) :160-164
[9]   Disruption of neurexin 1 associated with autism spectrum disorder [J].
Kim, Hyung-Goo ;
Kishikawa, Shotaro ;
Higgins, Anne W. ;
Seong, Ihn-Sik ;
Donovan, Diana J. ;
Shen, Yiping ;
Lally, Eric ;
Weiss, Lauren A. ;
Najm, Juliane ;
Kutsche, Kerstin ;
Descartes, Maria ;
Holt, Lynn ;
Braddock, Stephen ;
Troxell, Robin ;
Kaplan, Lee ;
Volkmar, Fred ;
Klin, Ami ;
Tsatsanis, Katherine ;
Harris, David J. ;
Noens, Ilse ;
Pauls, David L. ;
Daly, Mark J. ;
MacDonald, Marcy E. ;
Morton, Cynthia C. ;
Quade, Bradley J. ;
Gusella, James E. .
AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (01) :199-207
[10]   Behavior problems in children with tuberous sclerosis complex and parental stress [J].
Kopp, Claudine M. C. ;
Muzykewicz, Davi D. A. ;
Staley, Brigid A. ;
Thiele, Elizabeth A. ;
Pulsifer, Margaret B. .
EPILEPSY & BEHAVIOR, 2008, 13 (03) :505-510