Birman Catherine S, Brew Jane A, Gibson William P R, Elliott Elizabeth J
Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, Australia; Sydney Children's Hospital Network (Children's Hospital at Westmead), Hawkesbury Road, Westmead 2145, NSW, Australia; The Sydney Cochlear Implant Centre, Royal Institute for Deaf and Blind Children, PO Box 188, Gladesville 1675, NSW, Australia; Department of Linguistics, Faculty of Human Sciences, Macquarie University, North Ryde, Australia.
The Sydney Cochlear Implant Centre, Royal Institute for Deaf and Blind Children, PO Box 188, Gladesville 1675, NSW, Australia.
Int J Pediatr Otorhinolaryngol. 2015 Apr;79(4):487-92. doi: 10.1016/j.ijporl.2015.01.004. Epub 2015 Jan 19.
CHARGE syndrome is a complex cluster of congenital abnormalities, these children may have absent or hypoplastic auditory nerves. Our objective was to assess preoperative factors and outcomes for paediatric cochlear implant recipients with CHARGE syndrome, to enable better surgical preparation and family counselling.
The Sydney Cochlear Implant Centre database was searched for children with CHARGE syndrome who had received a cochlear implant at ages 16 and less. Data were collected regarding clinical history; hearing assessments; MRI and CT scan findings; preoperative transtympanic electrical Auditory Brainstem Response (ABR); intraoperative findings and intraoperative electrical ABR and Neural Response Telemetry; and language outcomes in terms of main language used and Categories of Auditory Performance scores (0-7 ranking).
Ten children were identified. All seven prelingual profoundly deaf children with CHARGE syndrome had hypoplastic or absent auditory nerves bilaterally on MRI scans. Middle ear anatomy was often abnormal, affecting surgical landmarks and making identification of the cochlea very difficult in some cases. Three cases required repeated surgery to obtain successful cochlear implant insertion, one under CT scan image guided technique. All seven children used sign language, or simpler gestures, as their main mode of communication. Two children of of these children, who were implanted early, also attained some spoken language. CAP scores ranged from 0 to 6. The three children with CHARGE syndrome and progressive sensorineural hearing loss had a normal auditory nerve in at least one ear on MRI scans. All had preoperative verbal language, with CAP scores of 6, and continued with CAP scores of 6 following receipt of the cochlear implant.
Children with CHARGE and congenital profound hearing loss all had hypoplasia or absent auditory nerves, affecting their outcomes with cochlear implants. They often had markedly abnormal middle ear anatomy and CT image guided surgery can be helpful. These children should be offered a bilingual early intervention approach, using sign language and verbal language, to ensure best language outcomes. Children with CHARGE syndrome and progressive profound hearing loss did well with cochlear implants and continue to be able to use verbal language.
CHARGE综合征是一组复杂的先天性异常疾病，这些患儿可能存在听神经缺如或发育不全。我们的目的是评估患有CHARGE综合征的儿童人工耳蜗植入术前的因素及手术效果，以便更好地进行手术准备并为家庭提供咨询。
在悉尼人工耳蜗植入中心数据库中搜索16岁及以下接受人工耳蜗植入的CHARGE综合征患儿。收集以下数据：临床病史；听力评估；磁共振成像（MRI）和计算机断层扫描（CT）结果；术前经鼓膜电刺激听性脑干反应（ABR）；术中发现、术中电刺激ABR及神经反应遥测；以及主要使用的语言和听觉表现类别评分（0 - 7级）方面的语言结果。
共确定了10名患儿。所有7名患有CHARGE综合征的语前极重度聋患儿在MRI扫描中双侧听神经发育不全或缺如。中耳解剖结构常异常，影响手术标志，在某些情况下使耳蜗的识别非常困难。3例患儿需要反复手术才能成功植入人工耳蜗，其中1例采用CT扫描图像引导技术。所有7名患儿都使用手语或更简单的手势作为主要交流方式。其中2名早期植入人工耳蜗的患儿也获得了一定的口语能力。听觉表现类别（CAP）评分范围为0至6。3名患有CHARGE综合征和进行性感音神经性听力损失的患儿在MRI扫描中至少有一只耳朵的听神经正常。所有患儿术前都有言语能力，CAP评分为6，植入人工耳蜗后CAP评分仍为6。
患有CHARGE综合征和先天性极重度听力损失的患儿均存在听神经发育不全或缺如，影响人工耳蜗植入效果。他们的中耳解剖结构常常明显异常，CT图像引导手术可能会有帮助。应采用手语和言语相结合的双语早期干预方法为这些患儿提供治疗，以确保最佳的语言效果。患有CHARGE综合征和进行性极重度听力损失的患儿人工耳蜗植入效果良好，且能够继续使用言语。
