Cochlear Implantation in a Child with Kabuki Make-up Syndrome

WANG Qian; WANG Shuwei; YU Sihan; LI Jia-nan

doi:10.3969/j.issn.1672-4933.2025.01.008

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Cochlear Implantation in a Child with Kabuki Make-up Syndrome

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

- Cochlear Implantation in a Child with Kabuki Make-up Syndrome
- Chinese Scientific Journal of Hearing and Speech Rehabilitation Vol. 23, Issue 1, Pages: 30-33(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.1672-4933.2025.01.008
  CLC： R764.43
- Received：19 October 2024，
  
  Published：15 January 2025
- 稿件说明：
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王倩,王淑为,于司函等.歌舞伎面谱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):30-33.

WANG Qian,WANG Shuwei,YU Sihan,et al.Cochlear Implantation in a Child with Kabuki Make-up Syndrome[J].Chinese Scientific Journal of Hearing and Speech Rehabilitation,2025,23(01):30-33.
王倩,王淑为,于司函等.歌舞伎面谱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):30-33. DOI： 10.3969/j.issn.1672-4933.2025.01.008.

WANG Qian,WANG Shuwei,YU Sihan,et al.Cochlear Implantation in a Child with Kabuki Make-up Syndrome[J].Chinese Scientific Journal of Hearing and Speech Rehabilitation,2025,23(01):30-33. DOI： 10.3969/j.issn.1672-4933.2025.01.008.

摘要

本文分析1例歌舞伎面谱综合征患儿临床表现和基因诊断，总结其听力语言康复效果。该患儿出生后3个月发现双耳听力差，生长发育迟缓。患儿携带KMT2D c.6109+2T

C（splicing）突变，同时携带

SLC26A4 c.1286C>A（Ala429Glu）

杂合变异。人工耳蜗植入开机后3个月，患儿对林氏六音可分辨并仿说。开机后5年，SIR得分4分，CAP得分6分。人工耳蜗助听听阈范围30～35dB HL。在专业康复机构进行听力语言亲子课程，每周2次，每次40分钟。开机后3年增加康复强度，开展认知理解、感统、言语矫治、听力语言、逻辑思维课程，每周5天，每天45～60min。患儿长时纠音易引发喉炎，中午瞌睡，学语进度缓慢。构音器官力量不足，发音不清晰。后期可说简单儿歌，可进行日常简单对话。

Abstract

This medical record analyzes the clinical presentation and genetic diagnosis of a child with kabuki face-spectrum syndrome

and summarizes the results of his hearing and speech rehabilitation. The child was found to have poor hearing in both ears three months after birth. Growth and development were delayed. The child carried the KMT2D c.6109+2T

C(splicing) mutation

as well as a heterozygous

SLC26A4 c.1286C>A(Ala429Glu)

mutation. Three months after boot-up

the child was able to discriminate and mimic the LAM six sounds. Five years after start-up

the SIR score was 4 and the CAP score was 6. Cochlear implant hearing thresholds ranged from 30 to 35 dB HL

and the child was enrolled in a 40-minute

twice-weekly hearing and speech parent-child program at a professional rehabilitation facility a

fter start-up. Three years after the start-up in the increase in the intensity of rehabilitation

cognitive understanding

sensory

speech correction

hearing speech

logical thinking courses

5 days a week

45-60min a day a course. The child's long-time sound correction is easy to cause laryngitis

dozing at noon

and slow progress in learning language. Insufficient strength of sound-constituting organs

insufficiently clear articulation. After four years

the child can speak simple children's songs and daily simple conversations.

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references

Niikawa N , Matsuura N , Fukushima Y , et al . Kabuki make-up syndrome:a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency [J ] . J Pediatr , 1981 , 99 ( 4 ) : 565 - 569 .

Wang YR , Xu NX , Wang J , et al . Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms [J ] . World J Pediatr , 2019 , 15 ( 6 ): 528 - 535 .

White SM , Thompson EM , Kidd A , et al . Growth, behavior, and clinical findings in 27 patients with Kabuki syndrome [J ] . Am J Med Genet , 2004 , 127 ( 2 ) : 118 - 127 .

Matsumoto N , Niikawa N . Kabuki make-up syndrome:a review [J ] . Am J Med Genet C Semin Med Genet , 2003 , 117 C ( 1 ) : 57 - 65 .

Richards S , Aziz N , Bale S , et al . Standards and guidelines for the interPretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology [J ] . Genet Med , 2015 , 17 ( 5 ): 405 - 424 .

Adam MP , Hudgins L , Hannibal M . Kabuki Syndrome [EB/OL ] . https://www.ncbi.nlm.nih.gov/books/NBK62111.htm https://www.ncbi.nlm.nih.gov/books/NBK62111.htm , 2024-4-25 .

Cuvertino S , Hartill V , Colyer A , et al . A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome [J ] . Genetics in Medi cine , 2020 , 22 ( 5 ): 867 - 877 .

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