Expert consensus on auditory intervention and language rehabilitation of CHARGE syndrome
-
摘要: CHARGE综合征是一类涉及多器官和感觉系统的常染色体显性遗传性先天畸形。该综合征患者听力障碍和发育迟缓发生率分别达87%和84%，且常伴颞骨、静脉窦、面神经发育异常等直接影响人工耳蜗植入手术的局部畸形和其他增加围手术期风险的全身畸形，如心脏缺陷、小颌畸形和喉气管畸形等。人工耳蜗植入对于促进CHARGE综合征患儿听觉及语言康复、改善其精神运动发育具有重要意义，但手术及其愈后均具有挑战性。中国耳聋基因筛查与诊断临床多中心研究协作组组织国内耳科专家、经验丰富的人工耳蜗调机师、言语康复专家，就CHARGE综合征的人工耳蜗植入围手术期处理、手术操作要点及术后康复形成专家共识，以规范临床诊疗工作。Abstract: CHARGE syndrome(CS) is an autosomal dominant congenital malformation involving multiple organs and sensory systems. The incidence of hearing impairment and developmental retardation in CS patients is 87% and 84%, respectively, which is often accompanied by malformations such as abnormal development of temporal bone, venous sinus, and facial nerve that directly affect cochlear implant surgery. Other systemic malformations increase perioperative risks, such as heart defects, micrognathia, laryngeal and trachea malformations. Cochlear implants are significant in promoting hearing and language rehabilitation and improving the psychomotor development of children with CS. Still, the process and outcome assessment of cochlear implantation are challenging. The Chinese Multi-center Clinical Research Collaboration Group on Genetic Screening and Diagnosis of Deafness organized domestic otologists, experienced audiologists, and speech rehabilitation experts to form an expert consensus on the perioperative management, key points of surgical operation and postoperative rehabilitation of cochlear implantation to standardize the clinical diagnosis, treatment, and rehabilitation for CS.
-
-
表 1 CHARGE综合征各表型的预估发生率
眼缺损(C) 心脏缺陷(H) 后鼻孔闭锁(A) 发育迟缓(R) 生殖器发育不良(G) 耳畸形及耳聋(E) 心理、认知和睡眠 其他 眼缺损(83%) 心脏缺陷(75%) 后鼻孔闭锁(51%) 发育迟缓(84%) 生殖器发育不良(54%) 听力障碍(87%) 攻击行为(48%) 特征性面容(73%) 眼后节缺损(77%) 动脉导管未闭(33%) 双侧后鼻孔闭锁(36%) 进食和吞咽困难(80%) 外耳异常(79%) 触觉防御(48%) 小颌畸形(41%) 双侧眼缺损(59%) 心房间隔缺损(20%) 粗大运动障碍(71%) 内耳畸形(75%) 睡眠障碍(45%) 喉气管畸形(32%) 虹膜缺损(22%) 室间隔缺损(17%) 大脑异常(43%) 复发性中耳炎(74%) 自残行为(44%) 小头畸形(27%) 智力残疾(64%) 中耳畸形(50%) 强迫症或强迫行为(36%) 唇裂或腭裂(25%) 面瘫(46%) 自闭症(28%) 注：对于发育迟缓的定义是指年龄 < 5岁，在2个或多个功能领域出现延迟或缺陷，包括：认知技能、言语发育、运动技能或社交和情感发育[11]。智力残疾的认定是根据认知功能和适应行为两方面的缺陷来界定，包括轻度或中度智力残疾IQ 36~69，日常能在最低或中等水平的支持下独立生活；重度或极重度智力残疾：IQ < 35，需要日常协助进行自理活动和安全监督，或需要24 h护理[12]。睡眠困难包括失眠、嗜睡或睡眠障碍、睡眠相关呼吸障碍、昼夜节律睡眠-觉醒障碍或睡眠相关运动障碍的任意组合[13]。 
下载: 导出CSV
表 2 CHARGE综合征的诊断标准
1998 Blake 2005 Verloes 2016 Hale 主要特征 主要特征 主要特征 眼部畸形 眼部畸形(虹膜或脉络膜异常伴或不伴小眼畸形) 眼部畸形 后鼻孔闭锁 后鼻孔闭锁或唇腭裂 颅神经缺陷 后鼻孔闭锁 外耳畸形、中耳或内耳畸形包括半规管畸形 特征性耳部畸形(杯状耳畸形) 半规管畸形 CHD7基因突变 次要特征 次要特征 次要特征 心脏缺陷 鼻脑功能障碍(脑干功能缺陷，Ⅵ~Ⅻ颅神经麻痹和感音神经性聋) 颅神经缺陷包括耳聋 生殖器发育不全 吞咽困难或喂养困难 口腔颌面裂 下丘脑-垂体功能障碍(包括生长激素和促性腺激素不足) 大脑结构异常 气管食管瘘 发育迟缓/自闭症 身材矮小、发育迟缓 中耳或外耳畸形 下丘脑-垂体功能障碍(包括生长激素和促性腺激素不足) 纵膈器官畸形(心脏、食管) 精神发育异常 心脏或食管缺陷 肾脏发育异常、骨骼或肢体发育异常 诊断标准 诊断标准 诊断标准 4主要 典型CS：3主要；2主要+2次要 2主要+任意次要 3主要+3次要 非典型CS：2主要；1主要+3次要 部分CS：2主要+1次要
下载: 导出CSV
-
[1] Pagon RA, Graham JM, Zonana J, et al. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association[J]. J Pediatr, 1981, 99(2): 223-227. doi: 10.1016/S0022-3476(81)80454-4
[2] Broomfield SJ, Bruce IA, Henderson L, et al. Cochlear implantation in children with syndromic deafness[J]. Int J Pediatr Otorhinolaryngol, 2013, 77(8): 1312-1316. doi: 10.1016/j.ijporl.2013.05.022
[3] Speaker RB, Roberston J, Simoes-Franklin C, et al. Quality of life outcomes in cochlear implantation of children with profound and multiple learning disability[J]. Cochlear Implants Int, 2018, 19(3): 162-166 doi: 10.1080/14670100.2018.1434451
[4] Choo DI, Tawfik KO, Martin DM, et al. Inner ear manifestations in CHARGE: abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures[J]. Am J Med Genet C Semin Med Genet, 2017, 175(4): 439-449. doi: 10.1002/ajmg.c.31587
[5] Abadie V, Wiener-Vacher S, Morisseau-Durand MP, et al. Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development[J]. Eur J Pediatr, 2000, 159(8): 569-574. doi: 10.1007/s004319900409
[6] Hall BD. Choanal atresia and associated multiple anomalies[J]. J Pediatr, 1979, 95(3): 395-398. doi: 10.1016/S0022-3476(79)80513-2
[7] Davenport SL, Hefner MA, Mitchell JA. The spectrum of clinical features in CHARGE syndrome[J]. Clin Genet, 1986, 29(4): 298-310. doi: 10.1111/j.1399-0004.1986.tb01258.x
[8] Issekutz KA, Graham JM Jr, Prasad C, et al. An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study[J]. Am J Med Genet A, 2005, 133A(3): 309-317. doi: 10.1002/ajmg.a.30560
[9] de Geus CM, Free RH, Verbist BM, et al. Guidelines in CHARGE syndrome and the missing link: Cranial imaging[J]. Am J Med Genet C Semin Med Genet, 2017, 175(4): 450-464. doi: 10.1002/ajmg.c.31593
[10] Thomas AT, Waite J, Williams CA, et al. Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis[J]. J Neurodev Disord, 2022, 14(1): 49. doi: 10.1186/s11689-022-09459-5
[11] Pinchefsky EF, Accogli A, Shevell MI, et al. Developmental outcomes in children with congenital cerebellar malformations[J]. Dev Med Child Neurol, 2019, 61(3): 350-358. doi: 10.1111/dmcn.14059
[12] Alford RL, Arnos KS, Fox M, et al. American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss[J]. Genet Med, 2014, 16(4): 347-355. doi: 10.1038/gim.2014.2
[13] World Health Organization. ICD-11: International Classification of Diseases for Mortality and Morbidity Statistics (11th Revision)[EB/OL]. (2019-8).
https://icd.who.int/en/ .[14] Lewis MA, Juliano A, Robson C, et al. The spectrum of cochlear malformations in CHARGE syndrome and insights into the role of the CHD7 gene during embryogenesis of the inner ear[J]. Neuroradiology, 2023, 65(4): 819-834. doi: 10.1007/s00234-023-03118-9
[15] Amin N, Sethukumar P, Pai I, et al. Systematic review of cochlear implantation in CHARGE syndrome[J]. Cochlear Implants Int, 2019, 20(5): 266-280. doi: 10.1080/14670100.2019.1634857
[16] Birman CS, Brew JA, Gibson WPR, et al. CHARGE syndrome and cochlear implantation: difficulties and outcomes in the paediatric population[J]. Int J Pediatr Otorhinolaryngol, 2015, 79(4): 487-492. doi: 10.1016/j.ijporl.2015.01.004
[17] Blake K, MacCuspie J, Hartshorne TS, et al. Postoperative airway events of individuals with CHARGE syndrome[J]. Int J Pediatr Otorhinolaryngol, 2009, 73(2): 219-226. doi: 10.1016/j.ijporl.2008.10.005
[18] Tellier AL, Cormier-Daire V, Abadie V, et al. CHARGE syndrome: report of 47 cases and review[J]. Am J Med Genet, 1998, 76(5): 402-409. doi: 10.1002/(SICI)1096-8628(19980413)76:5<402::AID-AJMG7>3.0.CO;2-O
[19] Roger G, Morisseau-Durand MP, Van Den Abbeele T, et al. The CHARGE association: the role of tracheotomy[J]. Arch Otolaryngol Head Neck Surg, 1999, 125(1): 33-38. doi: 10.1001/archotol.125.1.33
[20] Vissers LELM, van Ravenswaaij CMA, Admiraal R, et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome[J]. Nat Genet, 2004, 36(9): 955-957. doi: 10.1038/ng1407
[21] Bajpai R, Chen DA, Rada-Iglesias A, et al. CHD7 cooperates with PBAF to control multipotent neural crest formation[J]. Nature, 2010, 463(7283): 958-962. doi: 10.1038/nature08733
[22] Driesen J, Van Hoecke H, Maes L, et al. CHD7 disorder-not CHARGE syndrome-presenting as isolated cochleovestibular dysfunction[J]. Genes(Basel), 2024, 15(5): 643. http://openurl.ebsco.com/contentitem/doi:10.3390%2Fgenes15050643?sid=ebsco:plink:crawler&id=ebsco:doi:10.3390%2Fgenes15050643
[23] Jiang YH, Yuen RKC, Jin X, et al. Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing[J]. Am J Hum Genet, 2013, 93(2): 249-263. doi: 10.1016/j.ajhg.2013.06.012
[24] O'Roak BJ, Vives L, Girirajan S, et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations[J]. Nature, 2012, 485(7397): 246-250. doi: 10.1038/nature10989
[25] Balasubramanian R, Choi JH, Francescatto L, et al. Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency[J]. Proc Natl Acad Sci USA, 2014, 111(50): 17953-17958. doi: 10.1073/pnas.1417438111
[26] Jongmans MCJ, Admiraal RJ, van der Donk KP, et al. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene[J]. J Med Genet, 2006, 43(4): 306-314. http://beta.chargesyndroom.nl/resources/2011/05/CHARGE-JONGMANS-EN-ANDEREN-2006.pdf
[27] Jongmans MCJ, Hoefsloot LH, van der Donk KP, et al. Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability[J]. Am J Med Genet A, 2008, 146A(1): 43-50. doi: 10.1002/ajmg.a.31921
[28] Campbell IM, Stewart JR, James RA, et al. Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics[J]. Am J Hum Genet, 2014, 95(4): 345-359. doi: 10.1016/j.ajhg.2014.08.010
[29] Rahbari R, Wuster A, Lindsay SJ, et al. Timing, rates and spectra of human germline mutation[J]. Nat Genet, 2016, 48(2): 126-133. doi: 10.1038/ng.3469
[30] Ye AY, Dou YM, Yang XX, et al. A model for postzygotic mosaicisms quantifies the allele fraction drift, mutation rate, and contribution to de novo mutations[J]. Genome Res, 2018, 28(7): 943-951. doi: 10.1101/gr.230003.117
[31] Blake KD, Prasad C. CHARGE syndrome[J]. Orphanet J Rare Dis, 2006, 1(1): 34. doi: 10.1186/1750-1172-1-34
[32] Bergman JEH, Janssen N, Hoefsloot LH, et al. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype[J]. J Med Genet, 2011, 48(5): 334-342. doi: 10.1136/jmg.2010.087106
[33] Hefner MA, Fassi E. Genetic counseling in CHARGE syndrome: diagnostic evaluation through follow up[J]. Am J Med Genet C Semin Med Genet, 2017, 175(4): 407-416. doi: 10.1002/ajmg.c.31589
[34] Asakura Y, Toyota Y, Muroya K, et al. Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome[J]. J Clin Endocrinol Metab, 2008, 93(3): 920-924. doi: 10.1210/jc.2007-1419
[35] Fujita K, Aida N, Asakura Y, et al. Abnormal basiocciput development in CHARGE syndrome[J]. AJNR Am J Neuroradiol, 2009, 30(3): 629-634. doi: 10.3174/ajnr.A1380
[36] Gregory LC, Gevers EF, Baker J, et al. Structural pituitary abnormalities associated with CHARGE syndrome[J]. J Clin Endocrinol Metab, 2013, 98(4): E737-E743. doi: 10.1210/jc.2012-3467
[37] Vesseur AC, Verbist BM, Westerlaan HE, et al. CT findings of the temporal bone in CHARGE syndrome: aspects of importance in cochlear implant surgery[J]. Eur Arch Otorhinolaryngol, 2016, 273(12): 4225-4240. doi: 10.1007/s00405-016-4141-z
[38] Freeman SR, Sennaro lu L. Management of cochlear nerve hypoplasia and aplasia[J]. Adv Otorhinolaryngol, 2018, 81: 81-92. http://www.xueshufan.com/publication/2976409168
[39] Blake KD, Davenport SL, Hall BD, et al. CHARGE association: an update and review for the primary pediatrician[J]. Clin Pediatr(Phila), 1998, 37(3): 159-173. doi: 10.1177/000992289803700302
[40] Sanlaville D, Verloes A. CHARGE syndrome: an update[J]. Eur J Hum Genet, 2007, 15(4): 389-399. doi: 10.1038/sj.ejhg.5201778
[41] Hale CL, Niederriter AN, Green GE, et al. Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria[J]. Am J Med Genet A, 2016, 170A(2): 344-354. http://pubmed.ncbi.nlm.nih.gov/26996150/
[42] Corsten-Janssen N, van Ravenswaaij-Arts CMA, Kapusta L. Congenital arch vessel anomalies in CHARGE syndrome: a frequent feature with risk for co-morbidity[J]. Int J Cardiol Heart Vasc, 2016, 12: 21-25. http://www.xueshufan.com/publication/2397177210
[43] 鲁志龙, 申乐. CHARGE综合症患儿人工耳蜗植入术麻醉处理1例[J]. 中华麻醉学杂志, 2021, 41(10): 1260-1261. doi: 10.3760/cma.j.cn131073.20210628.01026
[44] Hara Y, Hirota K, Fukuda K. Successful airway management with use of a laryngeal mask airway in a patient with CHARGE syndrome[J]. J Anesth, 2009, 23(4): 630-632. doi: 10.1007/s00540-009-0791-y
[45] Stack CG, Wyse RK. Incidence and management of airway problems in the CHARGE association[J]. Anaesthesia, 1991, 46(7): 582-585. doi: 10.1111/j.1365-2044.1991.tb09664.x
[46] Sehata H, Kohase H, Takahashi M, et al. Tracheal intubation using a new CCD camera-equipped device: a report of two cases with a difficult intubation[J]. Acta Anaesthesiol Scand, 2005, 49(8): 1218-1220. doi: 10.1111/j.1399-6576.2005.00796.x
[47] Shimizu S, Koyama T, Mizota T, et al. Successful tracheal intubation with the GlideScope® in a patient with CHARGE syndrome[J]. J Anesth, 2013, 27(6): 965-966. doi: 10.1007/s00540-013-1631-7
[48] Hoshi T, Matsumiya N, Satsumae T, et al. A case of the CHARGE association with failed tracheal intubation[J]. Masui, 1998, 47(4): 487-489. http://pubmed.ncbi.nlm.nih.gov/9594525/
[49] 林颖, 任寸寸, 樊小勤, 等. 复杂畸形CHARGE综合征患儿人工耳蜗植入围手术期特点[J]. 临床耳鼻咽喉头颈外科杂志, 2022, 36(3): 198-204. doi: 10.13201/j.issn.2096-7993.2022.03.009
[50] 中华医学会耳鼻咽喉科学分会, 《中华医学会耳鼻咽喉科杂志》编辑委员会. 人工耳蜗植入工作指南(2003年, 长沙)[J]. 中华耳鼻咽喉科杂志, 2004, 39(2): 66-69.
[51] Schaefer S, Henderson L, Graham J, et al. Review of outcomes and measurement instruments in cochlear implantation studies[J]. cochlear Implants Int, 2017, 18(5): 237-239. doi: 10.1080/14670100.2017.1353761
[52] Bauer PW, Wippold FJ 2nd, Goldin J, et al. Cochlear implantation in children with CHARGE association[J]. Arch Otolaryngol Head Neck Surg, 2002, 128(9): 1013-1017. doi: 10.1001/archotol.128.9.1013
[53] Valero J, Blaser S, Papsin BC, et al. Electrophysiologic and behavioral outcomes of cochlear implantation in children with auditory nerve hypoplasia[J]. Ear Hear, 2012, 33(1): 3-18. doi: 10.1097/AUD.0b013e3182263460
[54] Peng KA, Kuan EC, Hagan S, et al. Cochlear nerve aplasia and hypoplasia: predictors of cochlear implant success[J]. Otolaryngol--head Neck Surg, 2017, 157(3): 392-400. doi: 10.1177/0194599817718798
[55] Vesseur A, Free R, Snels C, et al. Hearing restoration in cochlear nerve deficiency: the choice between cochlear implant or auditory brainstem implant, a meta-analysis[J]. Otol Neurotol, 2018, 39(4): 428-437. doi: 10.1097/MAO.0000000000001727
[56] Song MH, Cho HJ, Lee HK, et al. CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome[J]. PLoS One, 2011, 6(9): e24511. doi: 10.1371/journal.pone.0024511
[57] McKinney S. Cochlear implantation in children under 12 months of age[J]. Curr Opin Otolaryngol Head Neck Surg, 2017, 25(5): 400-404. doi: 10.1097/MOO.0000000000000400
[58] Southwell KE, Bird PA, Murray DP. Cochlear implantation in children with CHARGE syndrome[J]. Cochlear Implants Int, 2010, 11(3): 170-183.
[59] Vesseur A, Free R, Langereis M, et al. Suggestions for a guideline for cochlear implantation in CHARGE syndrome[J]. Otol Neurotol, 2016, 37(9): 1275-1283. doi: 10.1097/MAO.0000000000001177
[60] Young NM, Tournis E, Sandy J, et al. Outcomes and time to emergence of auditory skills after cochlear implantation of children with charge syndrome[J]. Otol Neurotol, 2017, 38(8): 1085-1091. doi: 10.1097/MAO.0000000000001488
[61] Vesseur A, Langereis M, Free R, et al. Influence of hearing loss and cognitive abilities on language development in CHARGE Syndrome[J]. Am J Med Genet A, 2016, 170(8): 2022-2030. doi: 10.1002/ajmg.a.37692
[62] La Spata MG. Assessment and intervention for individuals with CHARGE syndrome[J]. J Health Serv Psychol, 2019, 45(2): 58-64. doi: 10.1007/BF03544681
[63] Santoro L, Ficcadenti A, Zallocco F, et al. Cognitive-motor profile, clinical characteristics and diagnosis of CHARGE syndrome: an Italian experience[J]. Am J Med Genet A, 2014, 164A(12): 3042-3051. http://www.researchgate.net/profile/Orazio_Gabrielli2/publication/266025284_Cognitive-Motor_Profile_Clinical_Characteristics_and_Diagnosis_of_CHARGE_Syndrome_An_Italian_Experience/links/54a138d60cf256bf8bae65be.pdf?inViewer=0&pdfJsDownload=0&origin=publication_detail
[64] Snell KC. Receptive and Expressive Language Outcomes of Children with Cochlear Implants and CHARGE Syndrome[D]. University of Cincinnati, 2008.
[65] Trevisi P, Ciorba A, Aimoni C, et al. Outcomes of long-term audiological rehabilitation in charge syndrome[J]. Acta Otorhinolaryngol Ital, 2016, 36(3): 206-214. doi: 10.14639/0392-100X-837
[66] Thelin JW, Fussner JC. Factors related to the development of communication in CHARGE syndrome[J]. Am J Med Genet A, 2005, 133A(3): 282-290. http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.30550/full
[67] Lane K, Lieberman LJ, Haibach-Beach P, et al. Parental perspectives on physical education services for children with CHARGE syndrome[J]. J Spec Educ, 2021, 55(2): 90-100. doi: 10.1177/0022466920942769
[68] Smith IM, Nichols SL, Issekutz K, et al. Behavioral profiles and symptoms of autism in CHARGE syndrome: preliminary Canadian epidemiological data[J]. Am J Med Genet A, 2005, 133A(3): 248-256. doi: 10.1002/ajmg.a.30544
[69] Lasserre E, Vaivre-Douret L, Abadie V. Psychomotor and cognitive impairments of children with CHARGE syndrome: common and variable features[J]. Child Neuropsychol, 2013, 19(5): 449-465. doi: 10.1080/09297049.2012.690372
[70] 杨国珺, 蒋海越. CHARGE综合征研究进展[J]. 中华整形外科杂志, 2018, 34(7): 582-585. doi: 10.3760/cma.j.issn.1009-4598.2018.07.022
[71] 孙喜斌. 听力障碍儿童听觉、语言能力评估标准及方法[M]. 武汉: 三辰影库音像出版社, 2009.
[72] 刘巧云. 普通话儿童语言能力临床分级评估指导[M]. 南京: 南京师范大学出版社, 2021.
[73] 刘雪曼, de Villiers, Jill, 等. "梦想"普通话标准化评估在听障儿童语言测试中的应用[J]. 中华耳科学杂志, 2015, 13(4): 617-622. doi: 10.3969/j.issn.1672-2922.2015.04.011
[74] 王倩, 陈伟, 陈艾婷, 等. CHARGE综合征语前聋儿童人工耳蜗植入病例报道2例[J]. 中华耳科学杂志, 2020, 18(4): 675-677. doi: 10.3969/j.issn.1672-2922.2020.04.008
[75] 陈雪清. 3~6岁听力障碍儿童听觉言语康复效果评估方法[J]. 中国听力语言康复科学杂志, 2016, 14(4): 241-246. doi: 10.3969/j.issn.1672-4933.2016.04.001
[76] 王丽燕, 武慧多, 张阳. 听障儿童语言能力评估内容及常用工具[J]. 中国听力语言康复科学杂志, 2019, 17(3): 166-170. doi: 10.3969/j.issn.1672-4933.2019.03.002
-
计量
- 文章访问数: 190
- 施引文献: 0