Rhinological and Otological Society, Inc.
C 2013 The American Laryngological,
What Is the Optimal Workup for a Child With Bilateral Sensorineural
Catherine K. Hart, MD; Daniel I. Choo, MD
In the United States and other developed countries,
approximately one to two children per 1,000 have moder-
ate to profound bilateral sensorineural hearing loss
(SNHL).1SNHL can be broadly classified as hereditary,
acquired, or idiopathic. Up to 35% of children with
SNHL have a history suggestive of acquired environ-
dysmorphic features suggestive of syndromes that are
associated with SNHL. However, in the majority of chil-
dren, history and physical examination alone will not
reveal the cause of SNHL. The practitioner is then faced
with a plethora of diagnostic options to determine the
etiology of the SNHL.
In addition to a complete history, physical examina-
tion, and audiometric testing, the evaluation of bilateral
pediatric SNHL has typically included a comprehensive
battery of laboratory tests, radiologic studies, electrocar-
diogram (ECG), and more recently, genetic testing, as
well as ophthalmology evaluation and referral to a clini-
remains controversial, and recent studies have demon-
sensitive and clearly more cost-effective than a compre-
hensive testing approach.
There is no question that all children with bilateral
SNHL should undergo a thorough history and physical
examination eliciting prenatal, postnatal, and perinatal
explanations for hearing loss, a deliberate probing for
any family history of hearing problems, and examination
for dysmorphic features.
Similarly, there is no controversy surrounding thor-
ough audiometric evaluation of all children with SNHL
using age-appropriate methods to establish the degree of
hearing loss. Any child unable to complete behavioral
audiometry should undergo otoacoustic emission and au-
ditory brainstem response testing.
The necessity of routine laboratory testing in chil-
dren with bilateral SNHL has been called into question.
The literature currently supports limited application of
laboratory testing based on individual clinical scenar-
ios.1,2Use of a routine battery of testing has a low
diagnostic yield ranging from 0% to 2%.1,2Abnormal
results were found in up to 23% of patients, but none of
these were found to be associated with the etiology of
the SNHL.1,2In some instances, clinical findings may
suggest a particular diagnosis, which then mandates
laboratory evaluation. For example, an ECG should be
obtained if there is a family history of syncope. Thyroid
function studies are appropriate if the history or exam is
suggestive of hypothyroidism, goiter, or an enlarged ves-
tibular aqueduct is noted on imaging.
Genetic testing for mutations of the gap junction
beta-2 gene (GJB2), which encodes connexin 26, has
become an integral part of the workup for SNHL.1Of
children with severe–profound SNHL, 40% to 50% have
GBJ2 mutations, and GJB2 genotyping has a diagnostic
yield of 22%.1,2The yield is higher in children with
severe–profound SNHL than in children with milder
SNHL. Thus, children with severe–profound SNHL
should initially undergo GJB2 testing, whereas children
with milder SNHL might optimally be sent for imaging
studies as the initial diagnostic assay.2The role of fur-
ther genetic screening for mutations such as GJB6
(connexin 30) and SLC26A4 (Pendred syndrome) is not
yet well defined by the literature.3
The literature supports the use of radiologic studies
in the evaluation of children with bilateral SNHL. How-
ever, which modality to use remains controversial. An in
depth discussion of the merits and disadvantages of each
modality is beyond the scope of this review. Until
recently, high-resolution computed tomography (CT) of
From the Division of Pediatric Otolaryngology, Cincinnati Children’s
Hospital Medical Center, Cincinnati, Ohio. U.S.A.
Editor’s Note: This Manuscript was accepted for publication April
The authors have no funding, financial relationships, or conflicts
of interest to disclose.
Send correspondence to Catherine K. Hart, Division of Otolaryngo-
logy–Head and Neck Surgery, Cincinnati Children’s Hospital Medical
Center, 3333 Burnet Avenue–MLC 2018, Cincinnati, OH 45229-3039.
Laryngoscope 123: April 2013Hart and Choo: Workup for a Child With Bilateral SNHL
the temporal bones was the initial study of choice for
most clinicians.1,2Constantly improving magnetic reso-
nance imaging (MRI) techniques (particularly high-
resolution, T2-weighted, fast-spin echo sequences) offer
equivalent, and in some instances, better anatomical in-
advantages when compared to CT imaging.4Use of MRI
has historically been limited by the need for sedation.
However, as MRI acquisition time decreases, the need
for sedation will likely be reduced.
The timing of imaging within the diagnostic frame-
work also remains controversial. Some suggest all
children with bilateral SNHL, including those with posi-
tive GJB2 screening, should undergo imaging, whereas
others suggest only children with mild–moderate SNHL
or those with severe–profound SNHL and negative
genetic testing should be imaged.1–4A few small studies
have found no association between GJB2 mutations and
temporal bone abnormalities. In one study, abnormalities
were identified in only one of 21 GJB2-positive children,
and in another study only one of 18 had an abnormality,
suggesting that imaging may not be necessary if GJB2
screening is positive.2,3However, a study of 53 patients
with biallelic GJB2 mutations found at least one tempo-
ral bone abnormality in 72% of patients, which supports
obtaining imaging prior to cochlear implantation but
does not explore the necessity of imaging as part of the
initial diagnostic workup.3
The role of multidisciplinary evaluation must also
be considered. All children with positive genetic testing,
positive family history of SNHL, or concern for genetic
abnormalities should be referred to a clinical geneticist.
A recent study found that 37% (18 of 47) of children
with SNHL referred for genetic evaluation had a genetic
syndrome.5It was found that 57% (60 of 105) of children
suggesting that ophthalmologic referral should be recom-
mended for all children with hearing loss.5
After undergoing a thorough history, physical, and
audiologic evaluation, children with bilateral SNHL
should be evaluated using a sequential diagnostic algo-
rithm based on the degree of hearing loss. Initial testing of
children with severe to profound bilateral SNHL should
include GJB2 genotyping. If a GJB2 mutation is present,
no further diagnostic testing should be undertaken unless
clinically warranted. Children with lesser degrees of bilat-
eral SNHL should initially be evaluated via imaging, with
additional diagnostic tests determined by the imaging
results. Laboratory testing should be obtained to exclude
or confirm a suspected diagnosis. Further evidence is
needed to provide an algorithm to guide the clinician in
selecting appropriate laboratory testing. Ophthalmologic
consultation should be recommended for all children with
hearing loss, and genetics consultation is requisite for all
children with positive genetic testing, family history of
SNHL, or concern for syndromic or genetic abnormality.
LEVEL OF EVIDENCE
The cost-effectiveness and efficacy of sequential
diagnostic evaluation of children with bilateral SNHL is
based on level I and level II evidence (prospective cohort
study and retrospective studies).
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with a sequential diagnostic paradigm in idiopathic pediatric sensori-
neural hearing loss. Otol Neurotol 2005;26:610–615.
3. Propst EJ, Blaser S, Stockley TL, et al. Temporal bone imaging in GJB2
deafness. Laryngoscope 2006;116:2178–2186.
4. Licameli G, Kenna MA. Is computed tomography (CT) or magnetic reso-
nance imaging (MRI) more useful in the evaluation of pediatric sensori-
neural hearing loss. Laryngoscope 2010;120:2358–2359.
5. Wiley S, Arjmand E, Meinzen-Derr J, et al. Findings from multidisciplinary
evaluation of children with permanent hearing loss. Int J Pediatr Oto-
Laryngoscope 123: April 2013Hart and Choo: Workup for a Child With Bilateral SNHL