Evaluation and management of syndromic congenital hearing loss

被引：12
作者：
Casazza, Geoffrey [1 ,2 ]
Meier, Jeremy D. [1 ,2 ]
机构：
[1] Univ Utah, Sch Med, Div Otolaryngol, Salt Lake City, UT USA
[2] Primary Childrens Med Ctr, 100 North Mario Capecchi Dr,Suite 1300, Salt Lake City, UT 84113 USA
来源：
CURRENT OPINION IN OTOLARYNGOLOGY & HEAD AND NECK SURGERY | 2017年 / 25卷 / 05期
基金：
美国医疗保健研究与质量局;
关键词：
Pendred syndrome; syndromic hearing loss; Waardenburg syndrome; ENLARGED VESTIBULAR AQUEDUCT; TREACHER-COLLINS-SYNDROME; COCHLEAR IMPLANTATION; USHER-SYNDROME; LANGUAGE-DEVELOPMENT; CLINICAL-EVALUATION; PENDRED SYNDROME; TEMPORAL BONE; MOUSE MODEL; CHILDREN;
D O I：
10.1097/MOO.0000000000000397
中图分类号：
R76 [耳鼻咽喉科学];
学科分类号：
100213 ;
摘要：
Purpose of review The purpose of this review is to review the evaluation and management of children with syndromic hearing loss. Specific syndromes and the impact of those syndromes on managing hearing loss will be discussed. Recent findings Improved molecular testing has increased the ability to identify syndromes-associated hearing loss. Accurate diagnosis of syndromic hearing loss can guide discussions regarding prognosis and appropriate management options for the hearing impairment. Summary A significant portion of childhood hearing loss is associated with a syndrome. Depending on the syndrome, surgical intervention including a bone-anchored hearing aid or cochlear implant may be helpful. In the future, targeted gene therapies may become a viable option for treating syndromic hearing loss.
引用
收藏
页码：378 / 384
页数：7
相关论文
共 53 条
[1]   American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss [J].
Alford, Raye L. ;
Amos, Kathleen S. ;
Fox, Michelle ;
Lin, Jerry W. ;
Palmer, Christina G. ;
Pandya, Arti ;
Rehm, Heidi L. ;
Robin, Nathaniel H. ;
Scott, Daryl A. ;
Yoshinaga-Itano, Christine .
GENETICS IN MEDICINE, 2014, 16 (04) :347-355
[2]   CHARGE syndrome and Cochlear implantation: Difficulties and outcomes in the paediatric population [J].
Birman, Catherine S. ;
Brew, Jane A. ;
Gibson, William P. R. ;
Elliott, Elizabeth J. .
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2015, 79 (04) :487-492
[3]   Newborn hearing screening: analysis and outcomes after 100,000 births in Upper-Normandy French region [J].
Caluraud, Sophie ;
Marcolla-Bouchetemble, Aurore ;
de Barros, Angelique ;
Moreau-Lenoir, Florence ;
de Sevin, Emmanuel ;
Rerolle, Stephane ;
Charriere, Elisabeth ;
Lecler-Scarcella, Veronique ;
Billet, Francois ;
Obstoy, Marie-Francoise ;
Amstutz-Montadert, Isabelle ;
Marie, Jean-Paul ;
Lerosey, Yannick .
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2015, 79 (06) :829-833
[4]   Advances in the Understanding of the Genetic Causes of Hearing Loss in Children Inform a Rational Approach to Evaluation [J].
Carey, John C. ;
Palumbos, Janice C. .
INDIAN JOURNAL OF PEDIATRICS, 2016, 83 (10) :1150-1156
[5]   Branchio-Oto-Renal syndrome:: The mutation spectrum in EYA1 and its phenotypic consequences [J].
Chang, EH ;
Menezes, M ;
Meyer, NC ;
Cucci, RA ;
Vervoort, VS ;
Schwartz, CE ;
Smith, RJH .
HUMAN MUTATION, 2004, 23 (06) :582-589
[6]   Genetic Approach to Evaluation of Hearing Loss [J].
Cohen, Melinda ;
Phillips, John A., III .
OTOLARYNGOLOGIC CLINICS OF NORTH AMERICA, 2012, 45 (01) :25-+
[7]   The first reported treatment of Nager syndrome associated hearing loss with bone-anchored hearing aids: case report [J].
Davies, G. P. ;
Johnson, I. J. M. .
JOURNAL OF LARYNGOLOGY AND OTOLOGY, 2012, 126 (01) :76-78
[8]   Results of the implantation of bone-anchored hearing aids in patients with treacher-collins syndrome [J].
de Sousa Oliveira, Alexandra Kolontai ;
Abreu Ferro, Lilia Pereira ;
da Silva, Jaiede Nicacio ;
Okada, Daniel Mochida .
INTERNATIONAL ARCHIVES OF OTORHINOLARYNGOLOGY, 2013, 17 (02) :222-226
[9]   Jervell and Lange-Nielsen syndrome in cochlear implanted patients: Our experience and a review of literature [J].
Eftekharian, Ali ;
Mahani, Mozhgan Hosseinerezai .
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2015, 79 (09) :1544-1547
[10]   Anatomic and Quantitative Temporal Bone CT for Preoperative Assessment of Branchio-Oto-Renal Syndrome [J].
Ginat, D. T. ;
Ferro, L. ;
Gluth, M. B. .
CLINICAL NEURORADIOLOGY, 2016, 26 (04) :481-483
123456