Bilateral cochlear implantation in a child with Johanson Blizzard Syndrome

被引：2

作者：

Holcomb, Meredith A. ^{[1
]}

Rizk, Habib G. ^{[1
]}

Morris, Nevitte S. ^{[1
]}

Meyer, Ted A. ^{[1
]}

机构：

[1] Med Univ South Carolina, Dept Otolaryngol Head & Neck Surg, Charleston, SC USA

来源：

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY | 2017年 / 95卷

关键词：

Johanson Blizzard Syndrome; Cochlear implantation; Speech outcomes; Sensorineural hearing loss; MENTAL-RETARDATION; HANDICAPPED-CHILDREN; LANGUAGE-DEVELOPMENT; HEARING-LOSS; ALAE NASI; PERFORMANCE; SPEECH; UBR1; DEFICIENCY; MUTATIONS;

D O I：

10.1016/j.ijporl.2017.02.001

中图分类号：

R76 [耳鼻咽喉科学];

学科分类号：

100213 ;

摘要：

Sensorineural hearing loss (SNHL) occurs in more than 80% of cases of Johanson Blizzard Syndrome (JBS). However, limited knowledge exists in medical literature of cochlear implantation (CI) outcomes in children with JBS. We report the case of a 5 year-old male with JBS and bilateral CI. While minimal progress in spoken language scores was noted after 4 years of bilateral CI use, substantial improvements in discrimination of speech sounds and audibility of spoken language and environmental sounds were documented. Cochlear implantation is an available treatment option of profound SNHL in children with JBS even if spoken language outcomes are marginal. (C) 2017 Elsevier B.V. All rights reserved.

引用

页码：69 / 71

页数：3

共 17 条

[1] Two novel UBR1 gene mutations in a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation [J].

Atik, Tahir ;

Karakoyun, Miray ;

Sukalo, Maja ;

Zenker, Martin ;

Ozkinay, Ferda ;

Aydogdu, Sema .

GENE, 2015, 570 (01) :153-155

[2] Pancytopenia from severe cobalamin (Vitamin B12) deficiency in Johanson-Blizzard syndrome [J].

Aubrey, S. ;

Crooks, B. ;

Rashid, M. .

EUROPEAN JOURNAL OF CLINICAL NUTRITION, 2013, 67 (10) :1118-1118

[3] THE JOHANSON-BLIZZARD SYNDROME [J].

BARAITSER, M ;

HODGSON, SV .

JOURNAL OF MEDICAL GENETICS, 1982, 19 (04) :302-303

[4] Cochlear implantation in deaf children with associated disabilities: Challenges and outcomes [J].

Berrettini, Stefano ;

Forli, Francesca ;

Genovese, Elisabetta ;

Santarelli, Rosamaria ;

Arslan, Edoardo ;

Chilosi, Anna Maria ;

Cipriani, Paola .

INTERNATIONAL JOURNAL OF AUDIOLOGY, 2008, 47 (04) :199-208

[5]

Chugunova T. I., 2014, Vestnik Otorinolaringologii, P90

[6] Johanson-Blizzard Syndrome Caused by Identical UBR1 Mutations in Two Unrelated Girls, One With a Cardiomyopathy [J].

Elting, Mariet ;

Kariminejad, Ariana ;

de Sonnaville, Marie-Louise ;

Ottenkamp, Jaap ;

Bauhuber, Susanne ;

Bozorgmehr, Bita ;

Zenker, Martin ;

Cobben, Jan M. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (23) :3058-3061

[7] Follow up of cochlear implanted handicapped children [J].

Hamzavi, J ;

Baumgartner, WD ;

Egelierler, B ;

Franz, P ;

Schenk, B ;

Gstoettner, W .

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2000, 56 (03) :169-174

[8] Speech and language development in cognitively delayed children with cochlear implants [J].

Holt, RF ;

Kirk, KI .

EAR AND HEARING, 2005, 26 (02) :132-148

[9] SYNDROME OF CONGENITAL APLASIA OF ALAE NASI, DEAFNESS, HYPOTHYROIDISM, DWARFISM, ABSENT PERMANENT TEETH, AND MALABSORPTION [J].

JOHANSON, A ;

BLIZZARD, R .

JOURNAL OF PEDIATRICS, 1971, 79 (06) :982-+

[10] Performance of children with mental retardation after cochlear implantation: Speech perception, speech intelligibility, and language development [J].

Lee, Young-Mee ;

Kim, Lee-Suk ;

Jeong, Sung-Wook ;

Kim, Jeong-Seo ;

Chung, Seung-Hyun .

ACTA OTO-LARYNGOLOGICA, 2010, 130 (08) :924-934

← 1 2 →