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新生儿听力筛查与耳聋基因筛查联合应用的意义 被引量:16

The Signiifcance of Combined Application of Newborn Hearing Screening and Deafness Gene Mutation Detection
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摘要 根据世界卫生组织(WHO)估计,2005年全球听力残疾人数为2.78亿,防聋治聋已成为全球关注的公共卫生项目。作为世界人口大国,我国因聋致哑的问题尤为突出,无数听力残疾人及其家庭承受着巨大的痛苦和沉重的经济负担。2006年全国第二次残疾人抽样调查结果显示,我国有听力障碍者2780万,占残疾人总数的33.52%,位居各类残疾之首。在听力障碍者中,0~6岁听障儿童约有13.7万,每年新增先天性听力障碍婴儿约3~4万人,另外据估算,我国每年增加药物性耳聋和迟发性耳聋导致儿童听力障碍3万人左右。耳聋已成为严重影响我国人口素质、增加国民医疗支出、制约经济快速发展的重大疾病。虽然听障儿童与健听儿童智力发展水平没有差别[1],但有证据表明,中度及中度以上的听力障碍对言语、语言和认知的发展都有严重的负面影响[2],成为听障人士融入主流社会的主要障碍。
出处 《中国听力语言康复科学杂志》 2014年第6期462-464,共3页 Chinese Scientific Journal of Hearing and Speech Rehabilitation
基金 卫生行业科研专项项目(201202005)
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  • 1杨晓娟,陈淑云,张园园,刘尚玲,施继良,朱芳,曲成毅.北京市3~7岁听障儿童与健听儿童智力测验的比较研究[J].中国听力语言康复科学杂志,2010(5):19-21. 被引量:1
  • 2Thompson DC, McPhillips H, Davis RL, et al. Universal newborn hearing screening: summary of evidence.JAMA, 2001, 286( 16): 2000--2010.
  • 3Centers for Disase Control and Prevention (CDC).CDC Grand Rounds: Newborn screening and improved outcomes. MMWR Morb Mortal Wkly Rep, 2012,61(21):390-393.
  • 4Barsky-Firkser L, Sun S. Universal newborn hearing screenings: a three-year experience.Pediatrics, 1997,99(6) : E4.
  • 5Mason JA, llerrmann KR. Universal infant hearing screening by automated auditory brainstem response measurement. Pediatrics, 1998, 101 (2): 221-228.
  • 6Colgan S, Gold L, Wirth K, et al. The cost-effectiveness of universal newborn screening for bilateral permanent congenital hearing impairment: systematic review. Acad Pediatr,2012,12(3):171-180.
  • 7Linden PL, Bitner-Glindzicz M, Lench N, et al. The future role of genetic screening to delect newborns at risk of childhood- onset hearing loss. Int J Audiol. 2013,52(2):124-133.
  • 8CDC. Summary of infants screened for hearing loss, diagnosed, and enrolled in early intervention, United States, 1999-2008.
  • 9Schimmenti LA, Warman B, Schleiss MR, et al. Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening. Genet Med, 2011, 13(12): 1006-1010.
  • 10Pandya A, Arnos KS, Xia X J, et al. Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. Genet Meal,2003,5:295-303.

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