Otologic and audiologic outcomes in pediatric patients with velo-cardio-facial (22q11 deletion) syndrome

Forest W. Weir, Sarah A. Wallace, David R. White, Jonathan L. Hatch, Shaun A. Nguyen, Ted A. Meyer

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Objective: The focus of this study was to evaluate the prevalence, type, and severity of hearing impairment in patients with velo-cardio-facial syndrome (VCFS) and to compare these characteristics with patient demographics and other otologic factors. Study Design: Retrospective analysis of the AudGen Database. Setting: Tertiary academic referral center. Patients: Pediatric patients in AudGenDB with a diagnosis of velo-cardio-facial syndrome or DiGeorge syndrome. Interventions: Appropriate audiologic, otologic, and demographic data were recorded. Main Outcome Measure: Four hundred six patients met inclusion criteria. Data for each patient were selected based on their encounters with earliest complete audiometric data, and hearing loss (HL) was defined as greater than 15 dB HL at any threshold by pure tone or greater than 20 dB HL by soundfield audiometry. The patients were then stratified by type and severity of HL, and available otologic and medical conditions were documented. Results: Two hundred forty eight (60.7%) patients had HL. Of the 391 individual HL ears, 127 had conductive, 22 had sensorineural, 115 had mixed, and 127 had unspecified hearing loss. 57% of the loss was bilateral. Patients with mixed HL had significantly worse pure-tone averages (PTAs). Conclusion: HL is prevalent in patients with VCFS. The hearing loss is primarily of conductive origin, with a predisposition to be bilateral, with mixed HL typically have more severe loss. There were a large number of patients with sensorineural hearing loss components as well. Further studies are needed to investigate the causal nature of the hearing impairment in VCFS, to better aid otolaryngologist and audiologists when assessing these patients.

Original languageEnglish (US)
Pages (from-to)73-78
Number of pages6
JournalOtology and Neurotology
Volume38
Issue number1
DOIs
StatePublished - Jan 1 2017

Fingerprint

22q11 Deletion Syndrome
Hearing Loss
Pediatrics
DiGeorge Syndrome
Mixed Conductive-Sensorineural Hearing Loss
Demography
Audiometry
Sensorineural Hearing Loss

Keywords

  • 22q11 deletion
  • Hearing loss
  • Velo-cardio-facial syndrome

ASJC Scopus subject areas

  • Otorhinolaryngology
  • Sensory Systems
  • Clinical Neurology

Cite this

Otologic and audiologic outcomes in pediatric patients with velo-cardio-facial (22q11 deletion) syndrome. / Weir, Forest W.; Wallace, Sarah A.; White, David R.; Hatch, Jonathan L.; Nguyen, Shaun A.; Meyer, Ted A.

In: Otology and Neurotology, Vol. 38, No. 1, 01.01.2017, p. 73-78.

Research output: Contribution to journalArticle

Weir, Forest W. ; Wallace, Sarah A. ; White, David R. ; Hatch, Jonathan L. ; Nguyen, Shaun A. ; Meyer, Ted A. / Otologic and audiologic outcomes in pediatric patients with velo-cardio-facial (22q11 deletion) syndrome. In: Otology and Neurotology. 2017 ; Vol. 38, No. 1. pp. 73-78.
@article{67509b14d667473c8f813f0fdcc0bad7,
title = "Otologic and audiologic outcomes in pediatric patients with velo-cardio-facial (22q11 deletion) syndrome",
abstract = "Objective: The focus of this study was to evaluate the prevalence, type, and severity of hearing impairment in patients with velo-cardio-facial syndrome (VCFS) and to compare these characteristics with patient demographics and other otologic factors. Study Design: Retrospective analysis of the AudGen Database. Setting: Tertiary academic referral center. Patients: Pediatric patients in AudGenDB with a diagnosis of velo-cardio-facial syndrome or DiGeorge syndrome. Interventions: Appropriate audiologic, otologic, and demographic data were recorded. Main Outcome Measure: Four hundred six patients met inclusion criteria. Data for each patient were selected based on their encounters with earliest complete audiometric data, and hearing loss (HL) was defined as greater than 15 dB HL at any threshold by pure tone or greater than 20 dB HL by soundfield audiometry. The patients were then stratified by type and severity of HL, and available otologic and medical conditions were documented. Results: Two hundred forty eight (60.7{\%}) patients had HL. Of the 391 individual HL ears, 127 had conductive, 22 had sensorineural, 115 had mixed, and 127 had unspecified hearing loss. 57{\%} of the loss was bilateral. Patients with mixed HL had significantly worse pure-tone averages (PTAs). Conclusion: HL is prevalent in patients with VCFS. The hearing loss is primarily of conductive origin, with a predisposition to be bilateral, with mixed HL typically have more severe loss. There were a large number of patients with sensorineural hearing loss components as well. Further studies are needed to investigate the causal nature of the hearing impairment in VCFS, to better aid otolaryngologist and audiologists when assessing these patients.",
keywords = "22q11 deletion, Hearing loss, Velo-cardio-facial syndrome",
author = "Weir, {Forest W.} and Wallace, {Sarah A.} and White, {David R.} and Hatch, {Jonathan L.} and Nguyen, {Shaun A.} and Meyer, {Ted A.}",
year = "2017",
month = "1",
day = "1",
doi = "10.1097/MAO.0000000000001226",
language = "English (US)",
volume = "38",
pages = "73--78",
journal = "Otology and Neurotology",
issn = "1531-7129",
publisher = "Lippincott Williams and Wilkins",
number = "1",

}

TY - JOUR

T1 - Otologic and audiologic outcomes in pediatric patients with velo-cardio-facial (22q11 deletion) syndrome

AU - Weir, Forest W.

AU - Wallace, Sarah A.

AU - White, David R.

AU - Hatch, Jonathan L.

AU - Nguyen, Shaun A.

AU - Meyer, Ted A.

PY - 2017/1/1

Y1 - 2017/1/1

N2 - Objective: The focus of this study was to evaluate the prevalence, type, and severity of hearing impairment in patients with velo-cardio-facial syndrome (VCFS) and to compare these characteristics with patient demographics and other otologic factors. Study Design: Retrospective analysis of the AudGen Database. Setting: Tertiary academic referral center. Patients: Pediatric patients in AudGenDB with a diagnosis of velo-cardio-facial syndrome or DiGeorge syndrome. Interventions: Appropriate audiologic, otologic, and demographic data were recorded. Main Outcome Measure: Four hundred six patients met inclusion criteria. Data for each patient were selected based on their encounters with earliest complete audiometric data, and hearing loss (HL) was defined as greater than 15 dB HL at any threshold by pure tone or greater than 20 dB HL by soundfield audiometry. The patients were then stratified by type and severity of HL, and available otologic and medical conditions were documented. Results: Two hundred forty eight (60.7%) patients had HL. Of the 391 individual HL ears, 127 had conductive, 22 had sensorineural, 115 had mixed, and 127 had unspecified hearing loss. 57% of the loss was bilateral. Patients with mixed HL had significantly worse pure-tone averages (PTAs). Conclusion: HL is prevalent in patients with VCFS. The hearing loss is primarily of conductive origin, with a predisposition to be bilateral, with mixed HL typically have more severe loss. There were a large number of patients with sensorineural hearing loss components as well. Further studies are needed to investigate the causal nature of the hearing impairment in VCFS, to better aid otolaryngologist and audiologists when assessing these patients.

AB - Objective: The focus of this study was to evaluate the prevalence, type, and severity of hearing impairment in patients with velo-cardio-facial syndrome (VCFS) and to compare these characteristics with patient demographics and other otologic factors. Study Design: Retrospective analysis of the AudGen Database. Setting: Tertiary academic referral center. Patients: Pediatric patients in AudGenDB with a diagnosis of velo-cardio-facial syndrome or DiGeorge syndrome. Interventions: Appropriate audiologic, otologic, and demographic data were recorded. Main Outcome Measure: Four hundred six patients met inclusion criteria. Data for each patient were selected based on their encounters with earliest complete audiometric data, and hearing loss (HL) was defined as greater than 15 dB HL at any threshold by pure tone or greater than 20 dB HL by soundfield audiometry. The patients were then stratified by type and severity of HL, and available otologic and medical conditions were documented. Results: Two hundred forty eight (60.7%) patients had HL. Of the 391 individual HL ears, 127 had conductive, 22 had sensorineural, 115 had mixed, and 127 had unspecified hearing loss. 57% of the loss was bilateral. Patients with mixed HL had significantly worse pure-tone averages (PTAs). Conclusion: HL is prevalent in patients with VCFS. The hearing loss is primarily of conductive origin, with a predisposition to be bilateral, with mixed HL typically have more severe loss. There were a large number of patients with sensorineural hearing loss components as well. Further studies are needed to investigate the causal nature of the hearing impairment in VCFS, to better aid otolaryngologist and audiologists when assessing these patients.

KW - 22q11 deletion

KW - Hearing loss

KW - Velo-cardio-facial syndrome

UR - http://www.scopus.com/inward/record.url?scp=85007480654&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85007480654&partnerID=8YFLogxK

U2 - 10.1097/MAO.0000000000001226

DO - 10.1097/MAO.0000000000001226

M3 - Article

C2 - 27956721

AN - SCOPUS:85007480654

VL - 38

SP - 73

EP - 78

JO - Otology and Neurotology

JF - Otology and Neurotology

SN - 1531-7129

IS - 1

ER -