PMID- 30554714
OWN - NLM
STAT- MEDLINE
DCOM- 20190128
LR  - 20190128
IS  - 1872-8464 (Electronic)
IS  - 0165-5876 (Linking)
VI  - 116
DP  - 2019 Jan
TI  - Findings from aetiological investigation of Auditory Neuropathy Spectrum Disorder
      in children referred to cochlear implant programs.
PG  - 79-83
LID - S0165-5876(18)30513-5 [pii]
LID - 10.1016/j.ijporl.2018.10.010 [doi]
AB  - OBJECTIVES: Auditory neuropathy spectrum disorder (ANSD) is an audiological
      diagnosis characterised by hearing dysfunction in the presence of intact outer
      hair cell function in the cochlea. ANSD is thought to account for 7-10% of all
      childhood permanent hearing impairment, and can result from a range of
      pathological processes. This paper describes the rationale, methods and findings 
      from the aetiological investigation of ANSD. METHODS: Retrospective audit of four
      cochlear implant programmes. RESULTS: 97 patients were identified. 79% of
      patients were identified before the age of one. Prematurity and jaundice were the
      most frequently identified aetiological factors. 33 patients had cochlear nerve
      deficiency on imaging. Genetic diagnoses identified included otoferlin, SX010
      gene, connexin 26 and A1FM1 gene mutations. ANSD was seen in conjunction with
      syndromes including Kallman syndrome, CHARGE syndrome, X-linked deafness, SOTOS
      syndrome, Brown Vieletto Van Laere syndrome, and CAPOS syndrome. DISCUSSION: We
      present a two-level system of aetiological investigation that is clinically
      practical. Patients with ANSD sufficiently severe to consider cochlear
      implantation are generally identified at an early age. Aetiological investigation
      is important to guide prognosis and identify comorbidity. CONCLUSION: Prematurity
      and jaundice are the most commonly identified aetiological factors in ANSD.
      Imaging findings identify crucial factors in a significant minority. An important
      minority may have genetic and syndromic diagnoses that require further
      management.
CI  - Copyright (c) 2018 Elsevier B.V. All rights reserved.
FAU - Rajput, K
AU  - Rajput K
AD  - Cochlear Implant Department, Great Ormond Street Hospital, London, United
      Kingdom.
FAU - Saeed, M
AU  - Saeed M
AD  - Cochlear Implant Department, Great Ormond Street Hospital, London, United
      Kingdom.
FAU - Ahmed, J
AU  - Ahmed J
AD  - Cochlear Implant Department, Great Ormond Street Hospital, London, United
      Kingdom.
FAU - Chung, M
AU  - Chung M
AD  - Auditory Implant Department, Royal National Throat Nose and Ear Hospital, London,
      United Kingdom.
FAU - Munro, C
AU  - Munro C
AD  - Auditory Implant Department, Royal National Throat Nose and Ear Hospital, London,
      United Kingdom.
FAU - Patel, S
AU  - Patel S
AD  - Auditory Implant Service, St.George's Hospital, London, United Kingdom.
FAU - Leal, C
AU  - Leal C
AD  - Hearing Implant Centre, Guy's Hospital, London, United Kingdom.
FAU - Jiang, D
AU  - Jiang D
AD  - Hearing Implant Centre, Guy's Hospital, London, United Kingdom.
FAU - Nash, R
AU  - Nash R
AD  - Cochlear Implant Department, Great Ormond Street Hospital, London, United
      Kingdom. Electronic address: mr.robert.nash@gmail.com.
LA  - eng
PT  - Journal Article
DEP - 20181011
PL  - Ireland
TA  - Int J Pediatr Otorhinolaryngol
JT  - International journal of pediatric otorhinolaryngology
JID - 8003603
RN  - Auditory neuropathy
SB  - IM
MH  - Adolescent
MH  - Child
MH  - Child, Preschool
MH  - Clinical Audit
MH  - Cochlear Implantation/methods/*statistics & numerical data
MH  - Comorbidity
MH  - Female
MH  - Hearing
MH  - Hearing Loss/*etiology
MH  - Hearing Loss, Central/*etiology/surgery
MH  - Humans
MH  - Infant
MH  - Male
MH  - Retrospective Studies
OTO - NOTNLM
OT  - Auditory diseases
OT  - Auditory evoked potentials
OT  - Central
OT  - Cochlear diseases
OT  - Cochlear implants
OT  - Cochlear nerve
OT  - Vestibulocochlear nerve diseases
EDAT- 2018/12/18 06:00
MHDA- 2019/01/29 06:00
CRDT- 2018/12/18 06:00
PHST- 2018/02/28 00:00 [received]
PHST- 2018/10/08 00:00 [revised]
PHST- 2018/10/09 00:00 [accepted]
PHST- 2018/12/18 06:00 [entrez]
PHST- 2018/12/18 06:00 [pubmed]
PHST- 2019/01/29 06:00 [medline]
AID - S0165-5876(18)30513-5 [pii]
AID - 10.1016/j.ijporl.2018.10.010 [doi]
PST - ppublish
SO  - Int J Pediatr Otorhinolaryngol. 2019 Jan;116:79-83. doi:
      10.1016/j.ijporl.2018.10.010. Epub 2018 Oct 11.