The Characteristic Features of Noonan Syndrome and Cochlear Implantation

WANG Dan-dan; ZHUANG Bo-xiang; HONG Meng-di; LI Jia-nan

doi:10.3969/j.issn.1672-4933.2025.01.004

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The Characteristic Features of Noonan Syndrome and Cochlear Implantation

Cochlear Implantation in Complex Cases | 更新时间：2026-07-11

- The Characteristic Features of Noonan Syndrome and Cochlear Implantation
- Chinese Scientific Journal of Hearing and Speech Rehabilitation Vol. 23, Issue 1, Pages: 12-15(2025)
- 作者机构：
  
  解放军总医院第六医学中心耳鼻咽喉头颈外科医学部/国家耳鼻咽喉疾病临床医学研究中心/听觉与平衡觉全国重点实验室北京100853
- 作者简介：
- 基金信息：
- DOI：10.3969/j.issn.1672-4933.2025.01.004
  CLC： R764.43
- Received：13 September 2024，
  
  Published：15 January 2025
- 稿件说明：
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王丹丹,庄博翔,洪梦迪等.努南综合征疾病特征与人工耳蜗植入[J].中国听力语言康复科学杂志,2025,23(01):12-15.

WANG Dan-dan,ZHUANG Bo-xiang,HONG Meng-di,et al.The Characteristic Features of Noonan Syndrome and Cochlear Implantation[J].Chinese Scientific Journal of Hearing and Speech Rehabilitation,2025,23(01):12-15.
王丹丹,庄博翔,洪梦迪等.努南综合征疾病特征与人工耳蜗植入[J].中国听力语言康复科学杂志,2025,23(01):12-15. DOI： 10.3969/j.issn.1672-4933.2025.01.004.

WANG Dan-dan,ZHUANG Bo-xiang,HONG Meng-di,et al.The Characteristic Features of Noonan Syndrome and Cochlear Implantation[J].Chinese Scientific Journal of Hearing and Speech Rehabilitation,2025,23(01):12-15. DOI： 10.3969/j.issn.1672-4933.2025.01.004.

摘要

目的

探讨努南综合征（Noonan syndrome，NS）患者伴有极重度感音神经性聋的诊疗策略。

方法

全面了解NS临床表型特征，对患者进行全面的术前评估，识别全身多系统异常导致围手术期潜在的风险，并采取有效预防措施；收集全面详尽的耳科相关资料；术后效果评估及随访。

结果

NS患者顺利完成人工耳蜗植入，术后效果好，术后3年，安静环境下句子识别率100%。SIR得分5级，CAP得分9级。

结论

NS患者在充分的术前评估和准备下，可顺利完成人工耳蜗植入并获得较好的助听效果，明显改善患者生活质量。

Abstract

Objective

To explore the diagnosis and treatment strategy of Noonan syndrome (NS) patients with extremely severe sensorineural deafness.

Methods

The clinical phenotypic characteristics of NS were comprehensively understood

the patients were comprehensively evaluated before surgery

and the potential risks caused by systemic multi-system abnormalities in perioperative period were identified and effective preventive measures were taken. Gathered were comprehensive and detailed collection of ear related data

postoperative effect evaluation and follow-up.

Results

For the NS patients successfully implanted

the postoperative effect was promising

and 3 years after surgery

the sentence recognition rate in quiet environment was 100%. SIR Scores level 5 and CAP scores level 9.

Conclusion

Following a comprehensive pre-operative examination and preparation

The operation of implant can be successfully accomplished and the patient is capable of achieving excellent hearing improvement

which significantly improves the quality of life of patients.

关键词

Keywords

references

Roberts AE , Allanson JE , Tartaglia M , et al . Noonan Syndrome [J ] . Lancet , 2013 , 381 ( 9863 ): 333 - 342 .

李辛 , 王秀敏 , 王剑 , 等 . Noonan综合征的临床实践指南 [J ] . 中华医学遗传学杂志 , 2020 , 37 ( 3 ): 324 - 327 .

Alicia A , Romano MD , Judith E , et al . Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines [J ] . Pediatrics , 2010 , 126 ( 4 ): 746 - 759 .

Lee K , Williams B , Roza K , et al . PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings [J ] . Clin Genet , 2009 , 75 ( 2 ): 190 - 194 .

Rohrer TR , Abuzzahab J , Backeljauw P , et al . Long-Term Effectiveness and Safety of Childhood Growth Hormone Treatment in Noonan Syndrome [J ] . Horm. Res. Paediatr , 2020 , 93 ( 6 ): 380 - 395 .

Yang Tengyu , Fan Xinmiao , Fan Yue , et al . Co-Occurrence of Sensorineural Hearing Loss and Congenital Heart Disease: Etiologies and Management [J ] . Laryngoscope , 2024 , 134 ( 1 ): 400 - 409 .

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