發(fā)布時(shí)間：2018-06-12 01:52

  本文選題：新生兒 + 聽(tīng)力篩查��； 參考：《中國(guó)人民解放軍軍醫(yī)進(jìn)修學(xué)院》2010年碩士論文

【摘要】： 自1964年,Marion Downs應(yīng)用行為測(cè)聽(tīng)來(lái)觀察和測(cè)試新生兒聽(tīng)力狀況,并研究發(fā)現(xiàn)每1000個(gè)新生兒中至少有1個(gè)先天性耳聾患者。此后,新生兒聽(tīng)力篩查項(xiàng)目在全球逐步開(kāi)展起來(lái),策略不斷更新,技術(shù)日益改進(jìn)。新生兒先天性耳聾的發(fā)病率也不斷被報(bào)道。隨著新生兒聾病發(fā)生情況研究的不斷深入,經(jīng)流行病學(xué)資料證實(shí),隨著年齡的增長(zhǎng),永久性聽(tīng)力損失患兒也持續(xù)增加,耳聾的研究也愈發(fā)的被重視。90年代以來(lái)新生兒聽(tīng)力篩查在世界范圍內(nèi)轟轟烈烈的展開(kāi)。我國(guó)學(xué)者們緊跟隨國(guó)際新生兒聽(tīng)力篩查的主流,在90年代初就開(kāi)始對(duì)新生兒聽(tīng)力篩查進(jìn)行積極的研究,也得到了政府的大力支持,2000年,政府以中華人民共和國(guó)母嬰保健法的形式肯定進(jìn)行新生兒聽(tīng)力篩查的意義和重要性。2002年12月,我國(guó)衛(wèi)生部制訂了《中國(guó)提高人口素質(zhì),減少出生缺陷和殘疾行動(dòng)(2002-2010)》,新生兒聽(tīng)力篩查工作在部分有條件的省、市、自治區(qū)、縣廣泛開(kāi)展。2009年6月1日開(kāi)始實(shí)施由衛(wèi)生部頒發(fā)的《新生兒疾病篩查管理辦法》,新生兒聽(tīng)力篩查在全國(guó)范圍內(nèi)迅速展開(kāi)。我國(guó)開(kāi)展新生兒聽(tīng)力篩查10余年來(lái),目前的開(kāi)展?fàn)顩r如何?實(shí)施情況如何?本課題將進(jìn)行一系統(tǒng)的分析研究。本研究分為三個(gè)部分： 第一部分中國(guó)新生兒聽(tīng)力篩查文獻(xiàn)回顧研究 本部分通過(guò)PUBMED. CBMdisc數(shù)據(jù)庫(kù)及互聯(lián)網(wǎng)檢索1998-2008年的有關(guān)中國(guó)新生兒聽(tīng)力篩查文獻(xiàn),系統(tǒng)回顧我國(guó)近10年發(fā)表的新生兒聽(tīng)力篩查文獻(xiàn),采用Meta分析方法對(duì)全部文獻(xiàn)數(shù)據(jù)進(jìn)行統(tǒng)計(jì)分析,在增大樣本量和擴(kuò)大篩查范圍的基礎(chǔ)上,初步確定中國(guó)新生兒聽(tīng)力篩查相關(guān)流行病學(xué)指標(biāo),并進(jìn)一步探討國(guó)內(nèi)開(kāi)展新生兒聽(tīng)力篩查工作中存在的主要問(wèn)題。本研究共納入新生兒聽(tīng)力篩查相關(guān)文獻(xiàn)129篇,新生兒705 394例,分別來(lái)自全國(guó)26個(gè)省、71個(gè)地區(qū)、120家醫(yī)療機(jī)構(gòu)。經(jīng)統(tǒng)計(jì)我國(guó)各省耳聾發(fā)病率普通病房為0.06%0.57%,大部分集中在0.1%～0.4%,平均發(fā)病率為0.20%(880／447 604),NICU病房波動(dòng)在0.37%～7.35%,平均發(fā)病率為2.29%(79／3 446),略高于美國(guó)和英國(guó)等西方國(guó)家。經(jīng)Meta分析,正常新生兒與存在高危因素新生兒的篩查結(jié)果間差異有統(tǒng)計(jì)學(xué)意義(P＜0.05)；不同高危因素對(duì)耳聾的影響差異有顯著性(P＜0.05)；高危因素間比較,發(fā)現(xiàn)各高危因素組間僅“耳聾家族史及頜面畸形”與其他高危因素組,以及“早產(chǎn)組”與“窒息組”間耳聾的發(fā)病率有統(tǒng)計(jì)學(xué)差異(P＜0.05)；新生兒聾病發(fā)病率男女間無(wú)差別(P＞0.05)。不同初篩時(shí)間篩查結(jié)果經(jīng)Meta分析,其數(shù)據(jù)支持隨機(jī)效應(yīng)模型的假定,說(shuō)明結(jié)果嚴(yán)重不一致(P＜0.05)。112篇文獻(xiàn)(669230例新生兒)報(bào)道采用OAE和AABR進(jìn)行聯(lián)合篩查,其中15篇還采用其他方法做了進(jìn)一步驗(yàn)證,結(jié)果一致。61篇文獻(xiàn)報(bào)道了隨訪情況,失訪率3.95%(10714／271069)。本研究確定了新生兒聽(tīng)力初篩的最佳時(shí)間,支持出生后72小時(shí)為初篩最佳時(shí)間；OAE和AABR是目前作為新生兒篩查的最佳手段；證實(shí)了不同性別新生兒聽(tīng)力篩查結(jié)果無(wú)明顯差異；高危因素影響著新生兒聽(tīng)力篩查通過(guò)率,高危新生兒耳聾發(fā)病率明顯高于普通病房出生新生兒。但也發(fā)現(xiàn)了國(guó)內(nèi)新生兒聽(tīng)力篩查工作存在篩查手段和方法不統(tǒng)一、篩查樣本量不足、缺乏統(tǒng)一篩查程序、隨診率低等不足,所以需要需求一種更為理想的篩查模式,建立比較健全的隨訪制度。 第二部分新生兒聽(tīng)力與基因聯(lián)合篩查結(jié)果分析及隨訪研究 隨著新生兒聽(tīng)力篩查工作的廣泛開(kāi)展和臨床經(jīng)驗(yàn)的積累,逐漸發(fā)現(xiàn)部分通過(guò)出生篩查的新生兒將來(lái)會(huì)發(fā)生遲發(fā)性聽(tīng)力損失。2006年Morton和Nance提到在新生兒中進(jìn)行常見(jiàn)耳聾基因的檢查可能會(huì)預(yù)知部分遺傳相關(guān)的遲發(fā)性耳聾。同年12月,解放軍總醫(yī)院率先在國(guó)內(nèi)提出了聽(tīng)力篩查中融入聾病易感基因篩查的新理念,并于2007年3月在全國(guó)開(kāi)展實(shí)施新生兒聽(tīng)力和基因聯(lián)合篩查方案。本部分針對(duì)我院出生的2716例新生兒,進(jìn)行聽(tīng)力與耳聾易感基因(A1555G、GJB2. SLC26A4)突變的聯(lián)合篩查,并確定重點(diǎn)隨訪對(duì)象進(jìn)行長(zhǎng)期隨訪,確定新生兒聽(tīng)力和聯(lián)合篩查的可靠性和可行性。研究發(fā)現(xiàn)5例新生兒為先天性感音神經(jīng)性聽(tīng)力損失,此5例新生兒耳聾易感基因線粒體12SrRNA基因m.A1555G、GJB2基因c.235delC、SLC26A4基因c.919-2A＞G篩查均通過(guò)；在耳聾基因篩查中發(fā)現(xiàn)2例為A1555G陽(yáng)性者,21例GJB2c.235delC雜合攜帶者,23例SLC26A4的c.919-2A＞G雜合攜帶者,均為聽(tīng)力篩查通過(guò)者,被告知注意事項(xiàng),隨訪至今聽(tīng)力好,言語(yǔ)發(fā)育好。共納入重點(diǎn)隨訪對(duì)象289例,完成隨訪225人,隨訪率77.85%(225／289)；失訪64人,失訪率22.15%(64／289)。289例新生兒中未在院內(nèi)進(jìn)行聽(tīng)力篩查、聽(tīng)力篩查結(jié)果異常及具有高危因素新生兒共247例,隨訪186例,隨訪率75.30%(186／247),失訪61例,失訪率24.70%(61／247),最后確診5例感音神經(jīng)性聽(tīng)力損失,確診率2.69%(5／186)；289例新生兒中基因篩查異常46例(其中1例未行聽(tīng)力初篩,3例有高危因素),隨訪43例,隨訪率93.48%(43／46),失訪3例,失訪率6.52%(3／46)�；蚝Y查結(jié)果異常新生兒的隨訪率和單純聽(tīng)力篩查結(jié)果異常新生兒的隨訪率的統(tǒng)計(jì)學(xué)分析卡方檢驗(yàn),P＜0.05,差異有統(tǒng)計(jì)學(xué)意義。本研究證實(shí)聽(tīng)力和基因聯(lián)合篩查提高了新生兒聾病或高危聾兒的檢出率,增加了重點(diǎn)隨訪對(duì)象的數(shù)量,擴(kuò)大了耳聾的防治與干預(yù)范圍,比單純聽(tīng)力篩查更能得到家長(zhǎng)的重視和配合。 第三部分新生兒聽(tīng)力和基因聯(lián)合篩查信息化網(wǎng)絡(luò)系統(tǒng)的建立 新生兒聽(tīng)力隨訪問(wèn)題始終是新生兒聽(tīng)力篩查工作中的一大難題,無(wú)論在發(fā)展中國(guó)家還是在發(fā)達(dá)國(guó)家,都亟待解決。本部分針對(duì)新生兒聽(tīng)力和基因聯(lián)合篩查方案,研究如何將這一篩查方案快速、高效的銜接和實(shí)施?如何形成有規(guī)模有秩序有層次的管理?從而進(jìn)一步加強(qiáng)隨訪。通過(guò)建立新生兒聽(tīng)力和基因聯(lián)合篩查網(wǎng)絡(luò)數(shù)據(jù)庫(kù),利用互聯(lián)網(wǎng)環(huán)境下的工作平臺(tái),錄入新生兒聽(tīng)力篩查詳細(xì)資料,數(shù)據(jù)庫(kù)保存和管理新生兒聽(tīng)力篩查、基因篩查、診斷和干預(yù)康復(fù)資料,并錄入家長(zhǎng)手機(jī)號(hào)碼,自動(dòng)定期完成發(fā)送和接收短信對(duì)新生兒進(jìn)行跟蹤隨訪,對(duì)新生兒聽(tīng)力進(jìn)行動(dòng)態(tài)追蹤,結(jié)合遺傳資料進(jìn)行科學(xué)的總結(jié)分析。同時(shí),合作單位可以通過(guò)帳號(hào)、密碼使用任何一臺(tái)接入互聯(lián)網(wǎng)的電腦訪問(wèn)該系統(tǒng)的網(wǎng)站,查詢新生兒基因篩查的相關(guān)結(jié)果,并可以將疑難問(wèn)題反饋給上級(jí)單位,上級(jí)單位可以對(duì)下級(jí)單位進(jìn)行幫助和監(jiān)督,形成一龐大的有秩序的新生兒聽(tīng)力和基因聯(lián)合篩查網(wǎng)絡(luò)管理-隨訪系統(tǒng)。研究發(fā)現(xiàn)新生兒聽(tīng)力和基因篩查資料管理和隨訪系統(tǒng),將新生兒資料詳細(xì)長(zhǎng)久保存,并具有隨時(shí)隨地查詢功能,具有統(tǒng)計(jì)報(bào)表功能,實(shí)現(xiàn)多方面數(shù)據(jù)檢索功能,并可將結(jié)果數(shù)據(jù)直接轉(zhuǎn)換成EXCEL表,方便統(tǒng)計(jì)軟件分析處理。實(shí)現(xiàn)上下級(jí)單位之間,單位和患者之間的互動(dòng)。本研究確定了新生兒聽(tīng)力和基因聯(lián)合篩查資料管理和隨訪系統(tǒng)能滿足新生兒聽(tīng)力篩查-診斷-干預(yù)-康復(fù)-隨訪-質(zhì)量控制一體化功能,實(shí)現(xiàn)了聽(tīng)力篩查數(shù)據(jù)庫(kù)智能管理,解決臨床聽(tīng)力篩查隨訪難題,也為新生兒聾病研究準(zhǔn)備和保存了足夠的臨床和遺傳資料,將新生兒聾病防治工作向前推進(jìn)了一大步。
[Abstract]:Since 1964, Marion Downs applied behavior to observe and test the hearing status of newborns, and found that at least 1 congenital deafness were found in every 1000 newborns. Since then, the newborn hearing screening program has been progressively developed around the world, the strategy is constantly updated, the technical day is improved, and the incidence of congenital deafness of the newborn is also continuous. It is reported that with the deepening of the study of the occurrence of neonatal deafness, the epidemiological data have proved that with the increase of age, the children with permanent hearing loss also continue to increase, and the research of hearing loss has become more and more important in the world since the.90 age. At the beginning of 90s, the mainstream of newborn hearing screening began to make positive research on newborn hearing screening in the early 90s, and the government supported it. In 2000, the government affirmed the significance and importance of neonatal hearing screening in the form of People's Republic of China maternal and infant health care law in December. China's Ministry of health formulated < China. Improving the quality of the population, reducing the birth defect and disability action (2002-2010), the hearing screening work of newborn infants in some provinces, cities, autonomous regions and counties is widely carried out in June 1st for the implementation of "neonatal screening management methods" issued by the Ministry of health in June 1st, and new children's hearing screening is launched rapidly throughout the country. What is the current status of hearing screening for children over the past 10 years? What is the implementation of this program? A systematic analysis will be carried out. This study is divided into three parts:
The first part is a literature review of neonatal hearing screening in China.
In this part, through the PUBMED. CBMdisc database and the Internet retrieval of 1998-2008 years of Chinese newborn hearing screening literature, this paper systematically reviews the literature of newborn hearing screening published in China in the last 10 years, and uses the Meta analysis method to analyze all the literature data. On the basis of enlarging the sample size and enlarging the scope of screening, it is preliminarily confirmed. In this study, 129 articles related to hearing screening for newborns and 705394 newborns were included in this study, from 26 provinces in China, 71 regions and 120 medical institutions, respectively. The common ward of the incidence of deafness was 0.06%0.57%, mostly concentrated in 0.1% to 0.4%, the average incidence was 0.20% (880 / 447604), the NICU ward fluctuated from 0.37% to 7.35%, the average incidence was 2.29% (79 / 3446), slightly higher than the western countries such as the United States and the United Kingdom. The difference between the normal newborns and the screening results with high risk factors was different by Meta analysis. There were statistical significance (P < 0.05); there were significant differences in the effect of different risk factors on Deafness (P < 0.05). The incidence of deafness among the high-risk factors group was only "deafness family history and maxillofacial malformation", and the incidence of deafness between "preterm group" and "stifling group" was statistically different (P < 0.05). The incidence of neonatal deafness was no difference between men and women (P > 0.05). The results of screening of different initial screening time were analyzed by Meta, and the data supported the hypothesis of random effect model, which showed that the results were not consistent (P < 0.05).112 Literature (669230 cases of newborns) were screened by OAE and AABR, of which 15 were also used in other methods. According to the results, the results were consistent with the follow-up.61 literature. The loss rate was 3.95% (10714 / 271069). This study confirmed the best time for newborn hearing screening and supported the best screening time at 72 hours after birth, and OAE and AABR were the best means of newborn screening. The high risk factors affect the passing rate of newborn hearing screening, the incidence of hearing loss in high risk neonates is obviously higher than that of newborns born in the general ward. However, it is also found that there are no uniform screening methods and methods, insufficient screening samples, lack of unified screening procedures, and low follow-up rate, and so on. A more ideal screening mode is needed, and a relatively sound follow-up system should be established.
The second part of the newborn hearing and gene combined screening results analysis and follow-up study.
With the extensive development of newborn hearing screening and the accumulation of clinical experience, it is gradually found that partial hearing loss in the newborn infants will have delayed hearing loss in the future,.2006 Morton and Nance refer to the common deafness genes in newborns, which may predict partial hereditary delayed deafness. December, the same year, The General Hospital of the PLA took the lead in the new concept of hearing screening for hearing loss in hearing screening in China. In March 2007, a joint screening program for newborn hearing and gene screening was carried out throughout the country. In this part, 2716 newborns born in our hospital were combined with hearing and deafness susceptibility gene (A1555G, GJB2. SLC26A4) mutation. The reliability and feasibility of neonatal hearing and joint screening were determined by the screening, and the reliability and feasibility of neonatal hearing and joint screening were determined. The study found that 5 newborns were congenital sensorineural hearing loss, and the 5 cases of neonatal deafness susceptible gene mitochondrial 12SrRNA gene m.A1555G, GJB2 gene c.235delC, and SLC26A4 gene c.919-2A > G screening were all screened. 2 cases of A1555G positive, 21 GJB2c.235delC heterozygous carriers and 23 SLC26A4 c.919-2A > G heterozygous carriers were found in the hearing loss gene screening. All of them were heard of hearing screening, and were followed up with good hearing and speech development. A total of 289 cases were followed up, and 225 were followed up with a follow-up rate of 77.85% (225). / 289) 64 people lost their visits and the rate of loss of visits was 22.15% (64 / 289) of.289 newborns without hearing screening. Hearing screening results were abnormal and there were 247 cases with high risk factors, 186 cases were followed up, the follow-up rate was 75.30% (186 / 247), missing visits, 24.70% (61 / 247), and final diagnosis of sensorineural hearing loss. / 186): 46 cases of abnormal gene screening in 289 newborns (1 cases without hearing screening, 3 cases with high risk factors), 43 cases were followed up, the follow-up rate was 93.48% (43 / 46), 3 cases were lost, 3 and 6.52% (3 / 46). The follow-up rate of abnormal newborn and the follow-up rate of abnormal newborns with simple hearing screening results were statistically analyzed. P < 0.05, the difference was statistically significant. This study confirmed that hearing and gene combined screening improved the detection rate of neonatal deafness or high-risk deaf children, increased the number of key follow-up objects, expanded the range of prevention and intervention of deafness and had more attention and cooperation than simple hearing screening.
The third part is the establishment of an information network system for hearing and gene screening in newborns.
The problem of neonatal hearing follow-up is always a difficult problem in newborn hearing screening. It is urgent to be solved both in developing countries and in developed countries. There is a hierarchical management to further strengthen follow-up. By establishing a network database of neonatal hearing and gene screening, using the working platform in the Internet environment, recording detailed information on newborn hearing screening, database preservation and management of newborn hearing screening, gene screening, diagnosis and intervention of rehabilitation data, and entering parents' mobile phone. The number, automatic regular completion of sending and receiving SMS to follow up the newborns, tracking the hearing of the newborns dynamically, combining with the genetic data to make a scientific summary and analysis. At the same time, the cooperative unit can use the account number, the cipher to access the web site of the system by any one connected to the Internet, and inquire about the newborn gene screening. The related results can be fed back to the higher level units, and the higher units can help and supervise the lower units to form a large and orderly newborns hearing and gene joint screening network management follow-up system. It can be saved in detail for a long time. It has the function of inquiring anytime and anywhere, having statistical report function, realizing the function of multifaceted data retrieval, and converting the result data directly into the EXCEL table, which facilitates the analysis and processing of the statistical software. It can realize the interaction between the units and the patients. This study determines the joint screening of newborn hearing and gene. The data management and follow-up system can meet the integrated function of neonatal hearing screening, diagnosis intervention, rehabilitation, follow-up and quality control, realize the intelligent management of hearing screening database, solve the problems of clinical hearing screening follow-up, prepare and preserve sufficient clinical and genetic data for the study of neonatal deafness, and prevent the prevention and treatment of neonatal deafness. The work took a big step forward.
【學(xué)位授予單位】：中國(guó)人民解放軍軍醫(yī)進(jìn)修學(xué)院
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2010
【分類號(hào)】：R764.43

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