期刊文献+

孤独症儿童脆性位点精神发育迟滞1基因检测 被引量:5

Detection of Friagile X Mental Ratardation 1 Gene in Children with Autistic Disorder
下载PDF
导出
摘要 目的对孤独症儿童进行脆性位点精神发育迟滞1(FMR-1)基因检测,探讨儿童孤独症与FMR-1基因的关系。方法孤独症患儿75例。用一般情况调查表进行调查,以儿童孤独症评定量表、孤独症行为检查量表筛查可疑患儿,按照中国精神障碍分类与诊断标准第3版(CCMD-3)的儿童孤独症诊断标准进行诊断和FMR-1基因检测。结果孤独症患儿FMR-1基因异常率极低,仅1.3%。结论儿童孤独症遗传学发病机制可能与FMR-1基因无关。 Objective To explore the relationship between autistic disorder and friagile X mental ratardation 1 ( FMR - 1 ) gene by detection FMR- 1 gene in children. Methods Using children - oriented questionnaire to investigate, then using child autism rating scale (CADS), autism behavior checklist(ABC) screen out dubious patient of autistic, finally to ensure the diagnosis of children with autistic disorder was based on CCMD - 3 criteria. Seventy - five outpatients were recruited from mental health center of Westchina hospital affiliated to Sichuan university. FMR- 1 gene was detected in autistic children. Result The abnormal frequency of FMR - 1 gene was very low ( 1.3 % ) in children with autistic disorder. Conclusion There may be no correlative relationship between genetic pathogenesis of autistic disorder and FMR- 1 gene.
出处 《实用儿科临床杂志》 CAS CSCD 北大核心 2006年第20期1415-1416,共2页 Journal of Applied Clinical Pediatrics
关键词 孤独症 儿童 聚合酶链式反应 基因 脆性位点精神发育迟滞1 autistic disorder child polymerase chain reaction gene fragile X mental retardation 1
  • 相关文献

参考文献12

二级参考文献22

  • 1John N, Constantino, Richard D, et al. Genetic structure of reciprocal social behavior[J]. Am J Psychiatry,2000,157:2043-2045. 被引量:1
  • 2Shevell MI, Majnemer A, Abrahamowicz M. Etiologic yield of subspecialists' evaluation of young children with global developmental delay [J] .J Pediatr,2000,136:593. 被引量:1
  • 3Howard MA, Cowell PE, Boucher J, et al. Convergent neuroanatomical and behavioural evidence of an amygdala hypothesis of autism[ J]. Neuroreport, 2000,11: 2931-2935. 被引量:1
  • 4Goldberg MC, Landa R, Lasker A, et al. Evidence of normal cerebellar control of the vestibulo-ocular reflex (VOR) in children with highfunctioning autism[ J]. J Autism Dev Disord, 2000,30: 519-524. 被引量:1
  • 5Hendren RL, De Backer I, Pardina GJ. Review of neuroimaging studies of child and adolescent psychiatric disorders from the past 10 years[J].J Am Acad child Adolesc Psychiatry, 2000,39: 815-828. 被引量:1
  • 6Miles JH, Hadden LL, Takahashi TN, et al. Head circumference is an independent clinical finding associated with autism [ J ]. Am J Med Genet, 2000,11; 95: 339-350. 被引量:1
  • 7Zilbovicius, Nathalie Boddaert,Yves Samson. Temporal lobe dysfunction in childhood autism: a PET study[J]. Am J Psychiatry, 2000, 157:1988-1993. 被引量:1
  • 8Ryu YH, Lee JD, Yoon PH, et al. Perfusion impairments in infantile autism on technetium-99m ethyl cysteinate dimer brain single-photon emission tomography: comparison with findings on magnetic resonance imaging[J]. Eur J Nucl Med, 1999,26:253-259. 被引量:1
  • 9Shenoy S, Arnold S, Chatila T. Response to steroid therapy in autism secondary to autoimmune lymphoproliferative syndrome [ J ]. J Pediatr,2000,136:682. 被引量:1
  • 10Chong S S,Am J Med Genet,1994年,51卷,522页 被引量:1

共引文献130

同被引文献124

引证文献5

二级引证文献18

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部