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193
193 Early Detection and Diagnosis of Infant
Hearing Impairment
M. Elise Graham, Kavita Dedhia, Albert H. Park
KEY POINTS
•Protocols for newborn hearing screening include a
hearing screen by 1 month of age, diagnostic hearing
testing in those who failed the hearing screen by 3
months of age, and early intervention for infants
diagnosed with hearing loss by 6 months of age.
•The most common causes of congenital hearing loss in
infants without apparent risk factors are recessive
genetic hearing loss and congenital human
cytomegalovirus infection.
•Hearing screening programs that use only evoked
Otoacoustic emissions will fail to identify children with
auditory neuropathy.
•Surveillance of hearing and speech and language status
is essential for all children, whether the infant passed
universal newborn hearing screening or not.
•Not all conductive hearing losses are temporary or
related to middle ear effusion. Some cases of conductive
hearing loss will require early intervention.
•Delayed diagnosis and intervention for hearing loss can
lead to poor speech and language outcomes.
EPIDEMIOLOGY OF HEARING LOSS
Neonatal hearing loss is very common. It is estimated to occur in
1 to 3 per 1000 newborns.1 Certain populations are at increased
risk, including those with a family history of hearing loss, infants The Rhode Island Hearing Assessment Project (RIHAP) began in
with perinatal infection, and those requiring a neonatal intensive
care unit (NICU) stay. The rate of hearing loss in NICU patients
is nearly double, at 2 to 4 per 1000.2 The World Health
Organization estimates that 7.5 million children have a clinically
significant hearing loss.3
STATUS OF HEARING LOSS DIAGNOSIS BEFORE
UNIVERSAL NEWBORN HEARING SCREENING
Newborn hearing screening (NHS) is crucial for the early detection
of hearing loss. Prior to universal NHS, only about 3% of infants
in the United States were screened for hearing loss. Without
screening, affected children might not be identified until delayed
language development is noted; in milder cases of hearing loss,
they may remain unidentified as late as school age.4 Studies
have shown that earlier detection of hearing loss leads to earlier
intervention, in turn improving patient outcomes.5
Before the implementation of NHS, hearing screening involved
a targeted approach based on the presence of risk factors for
permanent hearing loss, including a family history of hearing loss,
NICU stay greater than 5 days, certain in utero infections, cra
niofacial anomalies, syndromes known to include permanent
hearing loss, neurodegenerative disorders, postnatal infections associated
with hearings, head trauma, and chemotherapy.6 Subsequent
investigation has shown that this approach identifies at most 50%
of hearing loss.7
HISTORY OF NEWBORN HEARING SCREENING
The importance of hearing and its implications for speech and
language development have been recognized on a national level
in the United States since the late 1980s. During this decade,
then US Surgeon General Dr. C. Everett Koop recommended
that the detection of hearing loss be made a priority for the
“Healthy People 2000” national objectives. In that same decade,
initiatives were introduced in Utah, Rhode Island, and Hawaii with
a goal of statewide screening prior to neonatal hospital discharge.
These pilot projects were designed to test the feasibility of
expanding universal NHS to a national level.
RESISTANCE TO NEWBORN HEARING SCREENING
Perhaps not surprisingly, there was initial resistance to the
implementation of universal NHS within the health care
community. Some felt that it was not feasible, and others felt that
it was not necessary to implement such a large-scale project.8
False-positive screen results were felt to be potentially harmful,
and the upfront cost of this project was large, without a demon
stratified benefit. Early results of statewide screening proved
these concerns to be unfounded. False-positive rates, although
initially as high at 6% to 10%, have decreased to a very
acceptable 1% to 2% as screening methods have improved.9
STUDIES OF STATEWIDE SCREENING
1989 and was the first to demonstrate that universal NHS,
including both well babies and NICU patients, was a feasible goal
prior to hospital discharge.10 Transient-evoked otoacoustic
emissions (TEOAEs) were used to test 1850 infants, identifying
nearly 500 who required rescreening, with an 81% follow-up rate
of rescreening in these patients. Ultimately, diagnostic testing of
6.2% of the total group identified 11 infants with sensorineural
hearing loss (SNHL). Population-based expansion of the RIHAP
over subsequent years demonstrated a reduction in the age of
identification of hearing loss from nearly 9 to 3.5 months of age,
and the age at initiation of amplification decreased from 13.3 to
5.7 months of age.11
The Colorado Newborn Hearing Project is one of the best
known statewide initiatives demonstrating the feasibility and
necessity of NHS. Initially the Colorado project involved voluntary
participation by 26 hospitals committed to screening all infants.
Screening methods were not standardized, and both automated
audit brainstem responses (AABRs) and otoacoustic emissions
(OAEs) were used. The initiative demonstrated a rate of newborn
hearing loss of 1 in 500, with 47% of cases occurring in children
without risk factors and therefore likely to remain unidentified
without screening.7 Legislation in 1997 mandated the involvement
of all Colorado hospitals in universal NHS. This increased the
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CHAPTER 193 Early Detection and Diagnosis of Infant Hearing Impairment2887.e1

Abstract Keywords
193
Congenital hearing loss is one of the most common birth defects. Sensorineural hearing loss
For that reason, the otolaryngologist who treats children must be universal newborn hearing screening
well versed in the evaluation and treatment of this condition. This audit brainstem response testing
chapter reviews universal newborn hearing screening, later cytomegalovirus
screening and diagnostic testing, and current paradigms for temporal bone imaging
evaluating the hearing-impaired infant. Additions to this chapter auditory neuropathy
include sections on an update on hearing screening approaches,
genetic testing, imaging, and the role of cytomegalovirus testing and treatment.
Machine Translated by Google
2888 PART VIII Pediatric Otolaryngology
screening rate from 19% of infants in the voluntary program to
87% of infants screened before hospital discharge.
An initiative in Hawaii was also very successful in implementing
universal NHS.12 This initiative began in 1992 and was successful
in screening 96% of infants. Two-stage AABR was used, leading
to a false-positive rate of just 0.2% (3.5% with single-stage
screen ing). These three pioneering programs provided the basis
and feasibility of the nationwide implementation of universal NHS.
NATIONAL NEWBORN HEARING STATEMENTS
AND CURRENT STATUS OF NEWBORN
HEARING SCREENING
National endorsements of universal NHS were released by both
the American Academy of Pediatrics (AAP) Joint Committee on
Infant Hearing13 and the National Institutes of Health (NIH)14
in the early 1990s. By the year 2000, the Joint Committee on
Infant Hearing began recommending that all infants be screened
via an integrated Early Hearing Detection and Intervention (EHDI)
program.4 Specifically, hearing screening should be achieved by
1 month of age, audiometric evaluation obtained by 3 months of
age for those who “refer” (require further testing) or fail the
screening, and intervention initiated by 6 months of age for those
with permanent hearing loss. This approach is often referred to
as the “1-3-6” rule.
By the middle of the year 2000, there was significant success
in implementing a national NHS program. Representative Jim
Walsh was instrumental in promoting EHDI state programs that
incorporated evidence-based research, monitoring, and tracking.
Statewide screening programs were initiated across the United
States by 2005, and the screening rate had reached nearly 95%
by that year.15 In 2007 , the rate was estimated at 97%, compared
with 46.5% in 1999.16 NHS still poses challenges, including
difficulty with follow-up and early amplification. It is estimated that
nearly half of those identified with hearing loss on screening do
not receive appropriate diagnostic testing or early intervention
services.15
NEWBORN HEARING SCREENING METHODS
All newborns must undergo hearing screening prior to 1 month of
age. Objective testing is used to identify hearing loss in newborns
because they are unable to participate in behavioral testing.
There are currently two objective screening methods, evoked
otoacoustic emissions (EOAEs) and AABRs. If the response is
not within the acceptable parameters, then the child will “refer” on
the test, or go on to additional testing. The terms fail or failure are
not used to avoid negative connotations.
EOAEs evaluate the function of the outer hair cells, which
generate energy known as the cochlear amplifier; this energy
exits the cochlea through the middle ear and tympanic membrane,
where it can be captured and measured in the external auditory
TABLE 193.1 Comparison of Hearing-Screen Algorithms
Probability of Referral for Probability of Referral for
Type of Test First Screen Second Screen
OAE 5.8%–33%22,24,30 1%–6%30
AABR 0.8%–4%22,24,30 0.32%–1%30
Two-stage: if OAE fails, OAE AABR
then AABR 2.4%–9.6%33,115 0.8%–2.8%22,33,115
AABR, Automated audit brainstem response; OAE, otoacoustic emissions.
channel. Currently two types of EOAEs are used for screening,
transient ones (TEOAE) and distortion product otoacoustic
emissions (DPOAE). When TEOAE is performed, small micro
phones are placed in the external auditory channel and a series
of clicks at approximately 80 dB SPL are used to elicit the response.
When emissions are present, responses generally indicate a
cochlear sensitivity of 20 to 40 dB HL or better in the range of
500 to 4000 Hz.17 When two pure-tone stimuli, f1 (lower
frequency) and f2 (higher frequency), are presented at moderate
levels (55 to 65 dB SPL) to the ear, the cochlea will generate
DPOAEs. The DPOAEs travel from the site of generation around
the f1 and f2 frequencies to their own frequency. They also travel
in the reverse direction and back into the ear canal, where they can be measured.
The distortion product occurs somewhere between f1 and f2; the
largest DPOAEs in the human ear occur at 2f1 to f2.18 Function
of normal outer hair cells and the middle ear is required to obtain
normal EOAEs, as the signal is transmitted from the cochlea
through the middle ear.
When AABRs are used, transient acoustic stimuli are
generated and detected with probes placed in the ear canal and
surface electrodes placed in the head and neck region (eg vertex,
mastoid region). A click stimulus is presented at 30 to 45 dB HL
to evaluate the audit pathway. The automated test will give either
a pass or refer result. Infants should be tested in a quiet room to
limit noise, which can affect testing.19,20
The EOAE test is easier to perform and results are faster than
those from AABRs, although the EOAE test is affected more by
middle ear or outer ear pathology such as cerumen or middle ear
effusion.21 On the other hand, AABR testing is more time
consuming but is generally reported to obtain lower referral and
false-positive rates (Table 193.1).22 Most of the outcomes of
hearing screening programs are reported using referral rate.
Sensitivity and specificity are not commonly reported because
not all patients who pass the screen undergo diagnostic audit
brainstem response (ABR) testing.23 In a study by Lin and
colleagues, the referral rate for TEOAE was 5.8%; for two-step
TEOAE and AABR, it was 1.6%; and for AABR, it was only
0.8%.22 The low referral rate with AABR only as compared with
two-step rates was attributed to increased repetition and
experience in performing the screening. Clarke et al. compared
the results of AABR and TEOAE in 81 newborns undergoing
NHS. They found that the probability of a newborn passing the
AABR was much higher than that of passing the TEOAE on both
the first and second screens.24 Despite the low referral rates with
AABR only, the increased technical difficulty and cost are barriers
to implementation in many settings.
Many audiologists please combining the TEOAE initial test
with the AABR as the second stage of a two-stage protocol. A
number of researchers have reported that this approach reduces
the false-positive rate and minimizes unnecessary referrals.25–30
Shang compared two-stage TEOAE with two-stage TEOAE and
AABR screening. Lower referral and false-positive rates were
Strengths Limitations
Low cost, quick Affected by middle ear debris or
procedure dysfunction, high referral rate, may miss
auditory neuropathy diagnosis
Low referral rate, low High cost, more time-consuming, may
impact of middle miss mild hearing loss, more technically
ear pathology demanding
Low referral rate Higher cost, potential to miss hearing loss
(especially mild loss), time consuming
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CHAPTER 193 Early Detection and Diagnosis of Infant Hearing Impairment 2889
reported for the group tested with AABR. The rate of diagnosing
permanent hearing loss was the same in both groups.30 By
optimizing the screens and decreasing the number of false
positives, there will be less need for subsequent follow-ups,
superfluous testing and costs will be reduced, and there will also
be a reduced potential for parental anxiety. Additionally, EOAE
will not detect auditory neuropathy, which can be identified in newbornsHearing
Infants who are in the NICU for more than 5 days are at greater
risk for auditory neuropathy and thus require screening by AABR.
A pass on TEOAE, AABR, or both tests does not mean that a
child will continue to have normal hearing. The literature reports
that up to 22% to 30% of children who passed the NHS were
subsequently diagnosed with hearing loss. The underlying reasons
include equipment issues, improper testing techniques, insufficient
threshold for identifying mild hearing loss, or delayed onset
hearing loss.31–35
Additional studies have shown that infants who have undergone
the two-stage NHS protocol may be at increased risk for a missed
hearing loss diagnosis.33 Johnson et al. performed a multi
institutional study evaluating the number of children who failed
EOAE and passed AABR, only later to be definitively diagnosed
with hearing loss at 9 months of age. They determined that 22.8%
of all infants screened met these criteria, for an overall incidence
of 0.54 infants per 1000.33 Because the repeat diagnostic test
was performed at 9 months of age, it is difficult to quantify true
false negative versus late-onset hearing loss in this study. Levit
and colleagues overcame this limitation by performing diagnostic
testing within 10 to 30 days in patients who failed EOAE and
passed AABR. In this group, 24% of infants were diagnosed with
hearing loss after failing EOAE and passing AABR.36 The
relatively high intensity stimulus (45 dB HL) on the AABR in this
study may explain why mild degrees of hearing loss were missed,
although a delayed onset of hearing loss cannot be ruled out.
With exception of children at risk for future SNHL, if a child
passes the NHS, there is no further testing until the age of 4 under
current guidelines. The AAPs recommend repeat hearing
evaluations in high-risk children (Box 193.1) at the age of 24 to 30
months regardless of NHS results.15
BOX 193.1 Risk Indicators Associated With Permanent
Congenital, Delayed-Onset, or Progressive Hearing Loss
in Childhood
Caregiver concern regarding, speech, language, or developmental
delay
Family history of permanent childhood hearing loss
Neonatal intensive care (NICU) stay of more than 5 days
NICU stay for any period of time with the following: extracorporeal problems with health care disparities and limited resources,
membrane oxygenation, assisted ventilation, exposure to
ototoxic medications or loop diuretics, and hyperbilirubinemia
requiring exchange transfusion
In utero infections: toxoplasmosis, rubella, cytomegalovirus,
herpes, syphilis
Craniofacial anomalies including those that involve the pinna, ear
canal, ear tags, ear pits, and temporal bone
Physical findings associated with a syndrome known to include
sensorineural or permanent conductive hearing loss
Any syndrome associated with hearing loss
Neurodegenerative disorders
Culture-positive postnatal infections associated with sensorineural
hearings
Head trauma, especially basal skull/temporal bone fracture
requiring hospitalization
Chemotherapy
The type of newborn hearing screen used is dependent on the
state and/or hospital. Although the Centers for Disease Control 193
records the adherence to 1-3-6 in each state, there is currently no
national tracking system for specific screening test outcomes.
Some states have statewide algorithms, others leave this to the
discretion of the birthing centers. The Joint Committee on Infant
only by recommendations
AABR. note that the type of screening program
will depend on what is practical and suitable based on both cost
and the availability of resources.15 The first hearing screen should
be performed at least 12 hours after birth, preferably as close to
discharge as possible, to decrease the referral rate from amniotic
fluid or debris in the ear canal. For infants who refer following the
first screen, a repeat screen is recommended prior to diagnostic
testing. Several studies have shown that testing infants at least
24 to 48 hours after birth will lead to decreased false-positive
results.23,24,37
In developing countries, it may be difficult to test newborns
after the first day, especially for home births or infants discharged
early. Cost and hospital discharge as early as 6 hours after birth
have made NHS challenging to implement in South Africa. Due to
the lack of equipment and time constraints, only 53% of private
hospitals in South Africa have reported performing some form of
NHS. Given the higher cost of disposables for AABR, most cost
conscious facilities will choose to use OAEs, although the AABR's
lower referral rate can decrease long-term costs. Van Dyk and
colleagues compared the BERAphone MB 11, an alternative to
AABR without disposables, to TEOAE in 150 well-baby infants.
Considering all children screened, AABR had a lower referral rate
(16.7% to 37.9%) and lower false-positive rate (4.9% to 37.9%)
than TEOAE.37 The referral rate of TEOAE in this study is
consistent with that in other developing countries, which ranges
from 10.5% to 33.2%; However, AABR referral rates were higher
than what has been reported (2% to 9.1%). Performing the
screening in a nursery that is not soundproof and testing prior to
24 hours of age may explain the higher AABR referral rates.37
The NHS program in China, which was started in 2008, still
experiences wide variability in screening rates across regions and
remains held back by scarce resources. Chinese patients in the
rural setting had low follow-up rates, especially for diagnostic
testing (42.2%). Several factors are responsible for the low follow-
up rates: the additional cost of transportation and accommodations
for families not living near a screening center, a perception that
testing would not change current care, parental denial of hearing
loss, and cost. A recent government program covering the cost of
screening has decreased the number of patients lost to follow-up.38
The cost of screening and lack of a national database for failed
hearing screens have also affected the NHS program in South
Korea.39 In Southwest Iran, rural populations had a higher referral
rate than urban populations. Although they had a lower rate
(4.23%) of patients lost to follow-up, they faced some of the same
requiring travel to distant diagnostic centers.40
DIAGNOSTIC AUDITORY BRAINSTEM RESPONSE
After a referral on universal NHS, diagnostic testing is required to
confirm and characterize the severity of the loss, enabling
appropriate amplification or intervention. Evaluation should include
appropriate medical history of the child, any risk factors for hearing
loss, a pregnancy and perinatal history, and family history. Tym
panometry and DPOAEs or TEOAEs should also be included.
The most important component to establish the degree, with
figuration, and nature of the hearing loss is a frequency-specific
tone-burst ABR with both bone and air conduction testing.
ABRs are powerful noninvasive tools allowing the estimation of
pure-tone thresholds through comparison of the waveform outputs
with normative data and the child's contralateral ear.41 The lowest
intensity level that elicits the ABR indicates the pure-tone
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2890 PART VIII Pediatric Otolaryngology
TABLE 193.2 Joint Committee on Infant Hearing Recommendations
for Diagnostic Audiometric Testing by Patient Age
Birth to 6 Months of Age 6–36 Months of Age
Child and family history Child and family history
Frequency-specific ABR with Parental report of audit/visual
air and bone tone bursts behaviors and communication
milestones
Click-evoked ABR (especially if Behavioral audiometry (visually
“no response” to tone reinforced vs. conditioned play)
burst)
Distortion product or transient Pure-tone audiometry with speech
evoked OAEs detection/recognition
Tympanometry with 1000-Hz OAE
probe tone
Clinical observation of audit Tympanometry/reflexes
behavior (as a cross check)
ABR testing if behavioral testing not
reliable or not previously
performed
ABR, Auditory brainstem response; OAEs, otoacoustic emissions.
threshold in the tested child. ABR testing is ideally performed during
natural sleep to avoid additional resources (ie, operating room time,
personnel, and monitoring) and risks associated with sedation. Most
children under 6 months of age can be tested during natural sleep.
Scheduling of tests near nap times, preventing sleep during
transportation to the appointment and the night before, absence of
siblings at the appointment, and feeding on arrival may all increase
the likelihood that the infant will be sleeping at the time of
testing.42,43 ABRs are performed by specific placement of
electrodes on the forehead and mastoid processes and either
headphones or inserts for the child's ears. The protocol for ABR
varies by institution and audiologist, but the goal is to obtain
thresholds at as many useful frequencies as possible while the
child remains asleep. If the child is sleeping, testing is often started
at 50 to 60 dB to avoid waking the child. Then these stimuli are
sequentially increased by 10 dB threshold untils can be estimated.44
A survey by Munoz et al. indicates that, despite the EHDI
guidelines, parents may have difficulty accessing the recommended
diagnostic tools and appropriately trained personnel.42 Of the
surveyed institutions, almost half, despite being identified as
hospitals with pediatric capability, were unable to offer the complete
battery recommended by the Joint Committee. The complete list of
recommended tests by patient age is included in Table 193.2.
The tests with limited availability included bone-conduction ABR,
cochlear microphonic obtained through click ABR, and behaviorally
observed audiometry. Wait time to access these appointments also
tended to be unacceptably long, with some delays ranging up to 3
to 5 months. Changes in practice and resource utilization are still
needed to meet the Joint Committee's recommendations.
Although the ABR is considered the gold standard among
diagnostic tests for newborn hearing assessment, it requires time
and specialized training for interpretation. When testing cannot be
completed during natural sleep, sedation or general anesthesia
may be necessary, which can be a significant burden in terms of
resources in addition to subjecting the child to additional risks.
AUDITORY STEADY-STATE RESPONSE
An attractive but less studied alternative to the ABR is audit steady-
state response (ASSR) testing. ASSR delivers continuous sinusoids
rather than tone bursts, as in the diagnostic ABR.45 ASSR may
provide some advantages over ABR in that a statistical algorithm
determines whether a response is present. Thus, most of the
subjectivity needed for conventional methods of reading
waveforms elicited from broad-spectrum click or tone-burst stimuli
is removed.46 It also allows delivery of simultaneous frequencies,
potentially decreasing the time required for testing.45 Recent
studies comparing ASSR with ABR, however, have reported varying results.
A 2016 study by Celik et al. demonstrated moderate threshold
correlation between ASSR and ABR, whereas previous studies
have shown a stronger correlation.47 Data validating ASSR for
bone conduction specifically are also limited, but they may be useful
in patients with conductive hearing loss between 0.5 and 4 kHz.48
At this point ASSR is not recommended as an alternative to ABR,
but it may serve as a complementary test.
BEHAVIORAL TESTING
Visually reinforced audiometry (VRA) is the behavioral diagnostic
method of choice in children who are developmentally 6 months to
2 years of age.49 Very young infants (<5 months of age) are not
developmentally ready to perform behavioral testing.50 VRA
involves presenting a sound to the child and rewarding appropriately
timed head turns with a picture or other visual stimulus.51 Inserts
or headphones can be used to obtain ear-specific information, with
inserts being preferred to avoid collapsing of the channels.
Inserts are more reliably tolerated by children above 18 months of
age, although a number of pediatric centers have reported excellent
success in obtaining individual thresholds in younger children.52
Ideally 500-, 1000-, 2000-, and 4000-Hz thresholds should be
obtained if possible. A positive response generally requires a 90-
degree head turn, and normative data by age are available for
interpretation.50
Conditioned play audiometry (CPA) is a technique available to
children who are developmentally 2 to 5 years of age. In this
technique, the child is first briefly conditioned to ensure that he or
she understands the task and can reliably participate. The chosen
task may vary based on the child's interest and cooperation—for
example, putting a peg in a board, tossing a block in a box, or a
digital task in response to hearing a sound.53 Again, frequencies
are chosen to maximize the useful information obtained prior to
patient fatigue.
COMPARISON OF METHODS: STRENGTHS
AND LIMITATIONS
The various diagnostic testing methods are complementary. By
combining several methods of assessment, one reduces the
limitations of any one test. OAEs are quick and require minimal
cooperation, but they will fail to detect auditory neuropathy. ABRs
require more time but give more detailed information, including ear-
specific thresholds. Behavioral observation is noninvasive but
unlikely to give ear-specific thresholds until the child can tolerate
inserts or headphones. It also requires a relatively cooperative child.
Testing options vary significantly depending on the age and
developmental maturity of the child. VRA and, more likely, CPA
may allow assessment of ear-specific thresholds, and an older child
(over the age of 5 years) may be able to participate in conventional
pure-tone audiometric testing. It is important to use age-appropriate
testing as soon as hearing loss is identified through screening. If a
center cannot perform the appropriate testing, the child should be
referred, as delay is unacceptable.
EVALUATION OF THE INFANT WITH
SENSORINEURAL HEARING LOSS
A multidisciplinary hearing assessment clinic was established at the
University of Utah in 2006 to help families whose child had been
diagnosed with hearing loss. The core team includes pediatric
genetics, audiology and otolaryngology, with additional specialists
as needed, including neurology, ophthalmology, infectious disease,
and child development. The diagnostic approach is based on early
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CHAPTER 193 Early Detection and Diagnosis of Infant Hearing Impairment 2891

screening for cytomegalovirus (CMV), followed by genetic testing and heterochromia iridis. The standard otolaryngology physical
or imaging as informed by the child's presentation. examination of the pinna for abnormalities includes microtia, pits, 193
In 2014 we proposed that CMV testing should be performed and tags; the caliber of the ear canal; and the appearance of the
first for the child who presents with idiopathic SNHL.54 Early CMV tympanic membrane. The presence or absence of middle ear
testing was found to be of high yield; it also reduced costs based effusion should be noted. Nasal examination should be per
on the avoidance of unnecessary genetic testing or temporal bone formed. Examination of the oral cavity should focus on the size of
imaging. If CMV testing is negative, additional testing is the jaw and the presence of clefts. The neck exam should
recommended based on the laterality of the hearing loss. For specifically assess for branchial anomalies and size of the thyroid.
bilateral hearing loss, genetic testing is recommended. For Cranial examination should also be performed, with particular
focus on facial nerve function.
unilateral or asymmetric hearing loss, imaging is recommended. Fig. 193.1
presents a proposed flowchart developed by an international
pediatric otolaryngology group.55 INTERPRETATION OF MIDDLE EAR FLUID
All patients presenting with hearing loss should be examined
by an otolaryngologist. Initial assessment includes a general IN THE INFANT
examination for obvious abnormal facies, dysmorphic features, Otitis media with effusion (OME) is a common finding in infants
asymmetry, or pigmentary abnormalities such as hair color changes who fail their NHS. Several large studies have reported that between

Sensorineural hearing
loss

Unilateral Bilateral

CMV Testing

Comprehensive
genetic testing (if
available) or single
Progressive or gene testing*
Asymmetric loss
No evidence of
associated genetics
syndrome on physical Temporal bone imaging
exam

Consider
Negative Positive

Not additional Additional Nonsyndromic

physical findings physical findings hearings

Consider:
1. Novel genetics
causes Genetics evaluation;
consider directed Pos Syndromic
2. Other risk factors hearings
genetic testing
for acquired
hearings
3. Enlarged
vestibular
aqueduct Negative

Habilitation, follow up

Fig. 193.1 Flowsheet outlining the recommended testing for the child who presents with sensorineural
hearing loss. Regardless of the laterality, we recommend that cytomegalovirus (CMV) testing be performed
first. If the CMV test is negative, one should consider a gene panel or testing for the connexin 26 mutation in the
child with bilateral sensorineural hearing loss. For unilateral sensorineural hearing loss and no evidence of a
syndromic condition, one should consider obtaining imaging.
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2892 PART VIII Pediatric Otolaryngology
55% and 65% of infants who failed their NHS have OME.56,57
OME may provide false reassurance to the primary care provider
and family as an explanation of why the newborn was referred on
the hearing screening test. One study found that none of the 64
infants with OME who were referred on NHS were found to have
an underlying SNHL.57 In contrast, Boone et al. detected an
underlying SNHL in 11% of infants who presented with a failed
NHS and middle ear fluid.56 Clearly the family should be informed
that the presence of a middle ear effusion does not rule out the
possibility of SNHL. As stated in a clinical practice guideline from
the American Academy of Otolaryngology–Head and Neck
Surgery Foundation, “Clinicians should document in the medical
record [when] counseling [of] parents of infants with OME who
fail a newborn hearing screen the importance of following -up to
ensure that hearing is normal when OME resolves and to exclude
an underlying SNHL.”58
The best approach to the infant with OME and failed NHS is
unclear, as a prolonged period of surveillance may not be ideal.
Boudewyns et al. noted that only 15 of 64 infants with middle ear
effusion presenting at an average age of 49 days had resolution
of their fluid by 4.8 months of age.57 Doyle et al. have noted that
neonatal OME is a risk factor for subsequent chronic otitis media
through the first year of life.59 In addition, the need for repeated
clinical visits and delays in treatment are sources of significant
parental dissatisfaction with the NHS process,60 which likely
contributes to the high rates of infants lost to follow-up in many
programs.7,61
The approach at our institution is to allow 3 months for OME
to resolve, proceeding with tympanostomy tube placement if
unilateral or bilateral fluid persists. Infants at high risk for SNHL, imaging had the lowest cost.
such as those with Down syndrome or NICU graduates, also
undergo tympanostomy tube insertion at this time. The infant is
typically evaluated 3 to 4 weeks after tube placement and
undergoes OAE testing. Although OAEs may be absent in the
presence of a patent tympanostomy tube, a normal result will
obviate the need for follow-up ABR, and the child will return in 6
months for behavioral hearing testing. If the test is abnormal,
there is still adequate time for the infant to undergo a diagnosed
ABR without the need for sedation. Further evaluation and
treatment is determined by the results of the ABR.
CONGENITAL CYTOMEGALOVIRUS
CMV is the most frequent congenital viral infection in the world.
The incidence for congenital CMV (cCMV) infection ranges from
0.5% to 1.7% of all newborns.62–64 Of those with cCMV, up to
20% have permanent disabilities, among which hearing loss is
the most common. The spectrum of presentation ranges from
asymptomatic (aCMV) infection, with no clinically apparent
disease, to symptomatic (sCMV), with clinically apparent disease
in one or more organ systems. The definition of symptomatic
infection has been confusing, as some authors have included
SNHL as a “symptom,” whereas others have not. For the
purposes of this chapter, we define symptomatic disease to
include evidence of thrombocytopenia, petechiae,
hepatosplenomegaly, intrauterine growth restriction, hepatitis,
central nervous system (CNS) involving ment, and chorioretinitis.
We separate those with isolated SNHL as a distinct category.
Hearing loss has been reported in up to 75% of children with
symptomatic disease, whereas the incidence of hearing loss in
infants with aCMV is 10% to 15%.65 Over half of cCMV-infected
infants who present with hearing loss at birth will develop progressive hearings.65
Since the majority of congenital CMV infections are
asymptomatic, the diagnosis relies on culture-based or polymerase survey of US parents, 84% of respondents stated that they would
chain reaction (PCR) methods. To distinguish between congenital
and postnatal CMV infection, a urine or saliva PCR or culture
should be obtained within the first 3 weeks of life. Wet saliva CMV
PCR was previously shown to be 100% sensitive and 99.9% specific, cCMV even if he or she never developed problems and that they would be
whereas dry saliva CMV PCR has a sensitivity and specificity of
97.4% and 99.9%, respectively.21 However, a prospective study
of 20,000 newborns in Finland reported that 15 of the 56 infants
with a positive saliva CMV PCR had a subsequent negative urine
CMV PCR result.66 Presumably breast milk from the seropositive
mothers resulted in the abnormal result. Therefore we recommend
waiting at least 90 minutes after breastfeeding to obtain a saliva
sample; if that is positive, a urine sample should be obtained to
confirm the diagnosis.
As archived dried blood spots (DBS) are obtained in most
newborns within the first week of life, the DBS can be tested for
CMV DNA when the child is diagnosed with hearing loss after the
first 3 weeks of life. However, the sensitivity of DBS testing is
only 34%, which is likely attributable to the lower CMV viral load
found in blood compared with urine or saliva.67–69 The poor
sensitivity of CMV PCR from DBS makes it unsuitable for mass
screening for congenital CMV. However, the test's high specificity
of 99.9% is clinically useful, since a positive DBS result is
diagnosis of congenital CMV infection.67
Although previous algorithms for the evaluation of idiopathic
pediatric SNHL have focused on genetic testing or temporal bone
imaging,70,71 we developed a sequential diagnostic paradigm
that incorporates CMV testing as the first step.54 Eighty-three
children underwent CMV testing, imaging, and a genetic
evaluation. Those with confirmed or probable CMV-induced
SNHL comprised 30% of all children tested. A cost-estimate
analysis demonstrated that early CMV testing had the lowest cost
per positive diagnosis for all types of hearing loss except for
auditory neuropathy spectrum disorder (ANSD). For ANSD,
As shown in Fig. 193.2, it is difficult to incorporate CMV testing
for idiopathic SNHL because a urine sample must be obtained by
3 weeks of age. It is simpler to perform CMV testing for any infant
who fails the NHS before that age (Fig. 193.3).
Stehel et al.72 instituted a protocol at a large birthing hospital to
perform a urine CMV culture or PCR assay for any infant who did
not pass an AABR before discharge. Over a 5-year period, 24 of
572 (5%) infants who did not pass the inpatient NHS tested
positive for cCMV. Notably, these children would have been
unlikely to have been diagnosed otherwise. Identification of these
children also provides an opportunity for audiologic rescreening
to monitor for the development of late-onset hearing deficits that
could affect language acquisition and educational achievement.
A hearing-targeted CMV (HT-CMV) screening approach has
been used in Utah since 2013. A CMV PCR or culture is
performed whenever an infant fails the NHS and is less than 3
weeks of age.73 Identifying cCMV is important, since at least
50% of cCMV-infected hearing-impaired infants are at risk for
developing progressively worse hearing over time.73–75 Utah
became the first state in the country to implement HT-CMV when
the bill was signed into law in July 2013, based on the efforts of
our CMV working group.76
Results from the Utah statewide program found that 62% of
infants who did not pass their hearing screening underwent CMV
screening.77 Over the subsequent 5 years, the compliance rate
has improved to over 90%. In addition, 77% of all infants born
after the legislation received timely diagnostic hearing evaluation
compared with 56% in the 24 months before the legislation.
Delays in the diagnosis and treatment of hearing loss are major
challenges for universal NHS programs. Thus HT-CMV screening
has positive implications for all infants with hearing loss.
CMV screening addresses a major concern for families whose
child has recently been diagnosed with SNHL. In a national
want to have their baby tested for CMV even if their doctor or
hospital did not perform the test routinely.78 An identical
percentage of respondents would want to know if their child had
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CHAPTER 193 Early Detection and Diagnosis of Infant Hearing Impairment 2893

SNHL 193

History and physical examination,

audiologic findings

Apparent diagnosis Idiopathic diagnosis

CMV urine PCR or

culture
POSITIVE
NEGATIVE
>3 weeks old
POSITIVE
<3 weeks old

Idiopathic
Possible or probable diagnosis
CMV-induced SNHL
Definitive
CMV-induced
SNHL
Genetic testing, imaging,
DBS PCR CMV Assay ophthalmology and EKG

NEGATIVE POSITIVE POSITIVE NEGATIVE

Definitive Genetic or Idiopathic

Possible or probable CMV-induced diagnosis
CMV-induced SNHL inner ear
SNHL dysplasia

MRI brain AND temporal bone; serial audiologic testing

POSITIVE NEGATIVE

Probable CMV Idiopathic

induced SNHL diagnosis

Fig. 193.2 Flowchart illustrating a sequential diagnostic paradigm that incorporates cytomegalovirus (CMV)
and ancillary testing depending on the age of the child. The level of complexity increases when the child is
older than 3 weeks of age. DBS, Dried blood spots; PCR, polymerase chain reaction; SNHL, sensorineural
hearing loss.

willing to pay for screening. In a review of all infants tested for hearing-impaired and one was a twin with normal hearing.80 It is
cCMV in British Columbia over an 8-year period,79 14 of 701 essential to identify sCMV patients in order to provide the option
infants, or approximately 4.2 per 100,000 live births, had a positive of therapy.
test for symptomatic CMV. As 50 cases per 100,000 births would Ganciclovir has been the most studied antiviral medication to
be expected, these results indicate that more than 90% of treat cCMV. It is a nucleoside analog of guanosine that is
expected sCMV infections were not diagnosed when testing was structurally related to acyclovir and blocks viral replication.
based on clinical suspicion. In our series, we detected 4 infants Valganciclovir is converted to ganciclovir via hepatic and intestinal
with cCMV and CNS abnormalities who were not diagnosed clinically; 3esterase
were and has the advantage of oral administration, whereas ganciclovir m
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2894 PART VIII Pediatric Otolaryngology
Newborn hearing
screen:
PASSED FAILED
CMV CMV
Positive Negative
Hearing Hearing
NORMAL LOSS
Fig. 193.3 Flowchart showing how a hearing-targeted early screening
approach for cytomegalovirus (CMV) can facilitate the diagnosis of
congenital CMV infection.
be administered intravenously. The National Institute of Allergy
and Infectious Disease Collaborative Antiviral Study Group (CASG)
presented a large randomized controlled study comparing 6 weeks
of intravenous ganciclovir with no treatment in infants less than 30
days of age with CNS involvement.81 They found that infants
treated with ganciclovir were more likely to have stable hearing or
even hearing improvement compared with those infants who
received no treatment. None of the treated infants had hearing
deterioration at 6 months compared with 41% of the untreated
infants. At the 1-year follow-up, 21% infants in the treated group
had some hearing deterioration in the better ear compared with
68% in the untreated group.
Amir et al. reported their results in 23 infants with culture
proven congenital CMV treated with ganciclovir for 6 weeks
followed by oral valganciclovir given until age 12 months.82
Within these 23 children (46 ears), none of the 25 children with
normally hearing ears developed worsening of hearing by 1 year
of age. For the 21 ears presenting with hearing loss, 12 (57%)
had improved hearing, 8 (38%) had no change, and 1 (5%) had a
worse threshold at 1-year follow-up. These preliminary results
indicate potential efficacy with longer duration of therapy.
A recent clinical trial by the National Institute of Allergy and
Infectious Disease CASG confirmed greater efficacy with longer
therapy.83 A 6-month course of valganciclovir antiviral treatment
began before the end of the first month of life improved hearing
and neurocognitive outcomes in infants with clinically apparent
symptomatic infection as compared with those treated for only 6
weeks.83
The major toxicities associated with ganciclovir and valgan
cyclovir are bone marrow depression, specifically neutropenia.81
Of the 46 (63%) ganciclovir-treated patients, 29 developed Grade
3 or 4 neutropenia. Of the 29 ganciclovir-treated patients
developing neutropenia, 14 required dosage adjustment and 4
had the drug permanently discontinued. Neutropenia was observed
only during the first 3 months of treatment, mainly during the
intravenous ganciclovir administration in the study by Amir et al.
Of the 12 patients who developed neutropenia, 2 required
discontinuation of treatment for 2 to 3 days until the absolute
neutrophil count normalized. Renal toxicity has also
Universal CMV screening
(Uni-CMV)
CMV CMV
Positive Negative
Hearing Hearing
NORMAL LOSS
Fig. 193.4 Flowchart illustrating how a universal cytomegalovirus
(CMV) screening approach would facilitate a diagnosis of
congenital CMV.
been documented with ganciclovir; However, these patients were
frequently taking other nephrotoxic medications, making it difficult
to ascribe the toxicity to ganciclovir.84 Studies have demonstrated
impaired fertility and carcinogenic properties following ganciclovir
exposure in mice.85 Infertility or cancer has not been reported to
be associated with ganciclovir or Valganciclovir use in any pediatric
patient despite its widespread use in CMV treatment for pediatric
transplant recipients.
A major question is whether cCMV infected children with mild
disease or those with isolated SNHL would benefit from
valganciclovir therapy. A number of consensus and review papers
have recommended no treatment for this group of children, given
the lack of evidence-based data.86–88 A double-blind placebo
controlled clinical trial has been funded by the NIH to determine
the efficacy and safety of valganciclovir therapy for cCMV-infected
infants with isolated SNHL. Infants between 1 and 6 months of age
diagnosed with cCMV and isolated SNHL will be invited to
participate at one of 30 sites in the United States.
A European consensus statement recommends targeted CMV
screening for infants less than 3 weeks of age with signs or
symptoms of sCMV such as microcephaly, intrauterine growth
retardation, hepatosplenomegaly, elevated transaminases,
petechiae, unexplained thrombocytopenia, or intracranial abnormalities.87
By implementing these recommendations in only three NICUs, we
diagnosed eight cCMV-infected infants over the past 2 years.
Universal CMV screening has also been advocated in a recent
consensus statement (Fig. 193.4)89 to identify all cCMV-infected
newborns, including those who pass the NHS. Fowler and col
leagues reported that a targeted CMV approach that tests
newborns who fail their NHS identified the majority (57%) of infants
with CMV-related SNHL at birth. However, this approach failed to
identify 43% of the infants with CMV-related SNHL in the neonatal
period as well as cCMV-infected infants who are at risk for late-
onset SNHL.90 In this study, the type of NHS and sub sequent
behavioral hearing testing were not presented. Such early
progressive loss is surprising, since an earlier study by Fowler et
al. reported a smaller percentage of cCMV infants with neonatal
SNHL.75 As the HT-CMV approach becomes more widely
adopted, better data will be available.
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CHAPTER 193 Early Detection and Diagnosis of Infant Hearing Impairment 2895
If universal CMV screening were to be implemented,
approximately 4 million newborns in the United States would have
to be screened. Currently there are no data to support early
identification of asymptomatic CMV-infected infants with normal
hearing at birth, especially since most will never develop SNHL.91
For those who develop late-onset SNHL, it is unclear whether early
diagnosis would improve their speech and language outcomes.
However, there may be value to patients and families in identifying
the etiology of hearing loss, if only to obviate the need for genetic
testing. A HT-CMV approach capitalizes on the success of an
ongoing NHS program and would involve additional testing of a
much smaller number of infants. Assuming a 1.5% referral rate,
approximately 60,000 newborns in the United States would have to
undergo CMV testing to identify those at greatest risk to develop
progressive SNHL.
Gantt et al. recently estimated the cost-effectiveness of universal
and targeted newborn cCMV screening programs compared with no
cCMV screening.92 They reported that among all infants born in the
United States, identification of one case of cCMV infection by
universal screening has approximately five times the cost of targeted
screening. This disparity between the two approaches reaches 28-
fold compared with the cost of identifying one case of hearing loss
from cCMV infection. Assuming a screening cost of $10 per case,
identifying one case of hearing loss due to cCMV would be $27,460
by universal screening or $975 by targeted screening. Unfortunately,
at least in Utah, the cost per case is closer to $300, which makes
universal screening prohibitively expensive. We also performed an
ex ante cost-benefit analysis of the Utah law directed at HT-CMV
screening. We found, from a societal perspective, that if antiviral
therapy was successful in preventing a cochlear implant in one
infant per year, the savings would offset the costs associated with
screening and treatment for those on public insurance.93
Once a child is diagnosed with cCMV, a multidisciplinary
approach is recommended to determine the severity and extent of
disease. A head ultrasound is performed in children without obvious
CNS involvement; MRI is performed if ultrasound is abnormal or for
children with CNS signs. The battery includes a complete blood
count with differential, comprehensive metabolic profile,
ophthalmology evaluation, plus early intervention and diagnostic
ABR study. We categorize the groups into asymptomatic, isolated
SNHL, or symptomatic (Fig. 193.5).
One of the most exciting areas of CMV investigation has been in
therapy. One provocative paper by Nigro et al. in 2003 reported
positive results from using passive immune globulin during pregnancy
to prevent transmission of CMV from mother to fetus.94
Unfortunately a phase III double-blind randomized clinical trial using
hyperimmune globulin failed to demonstrate efficacy in the course
of primary CMV infection during pregnancy.95 Two future studies,
one sponsored by Biotest and the other by the Eunice Kennedy
Shriver National Institute of Child Health and Human Development
(ClinicalTrials.gov NCT01376778), may provide further insight into
the possible role of treatment for CMV infection during pregnancy.
Another approach uses pre-conception immunity to human CMV
to reduce the impact of congenital HCMV infection.96–98
An Institute of Medicine (IOM) report, “Vaccines for the 21st Century,”
characterized HCMV vaccines as the highest-level (Level 1) priority
for vaccines in the new millennium.99,100 Pass et al. reported
results of their Phase II clinical trial comparing a recombinant CMV
envelope glycoprotein B administered with MF59 adjuvant with
placebo.101 The recombinant vaccine demonstrated an efficacy of
50% for protection against acquisition of a primary HCMV infection
in young women. Kaplan-Meier analysis showed that the vaccine
group was more likely to remain uninfected during a 42-month period
than the placebo group (P
= .02). However, a major challenge with this approach is that prior
immunity to cCMV does not confer complete protection.
against transmission to the fetus.64 An effective vaccine must
provide protection for both seronegative and seropositive mothers. 193
There fore a clinically effective vaccine for cCMV is probably years
to decades away.
GENETIC MUTATION
Genetic factors are a common cause of hearing loss (see Chapters
149 and 150). It is estimated that 50% of congenital hearing loss is
genetic in nature, among which 70% of cases are nonsyndromic.
In syndromic cases, hearing loss is one of a constellation of
coexisting signs and symptoms in the patient. Over 500 syndromes
are associated with hearing loss; therefore it is not possible to
screen for every genetic etiology. The appropriate screening
technique remains a topic of debate among experts, with some
advocating for a directed approach and others for screening with
larger panels. In general, patients with bilateral congenital hearing
loss without an obvious inciting factor should undergo genetic
testing.102
IMAGING
In children with congenital hearing loss, imaging detects inner ear
abnormalities (see Chapter 194) in 27.4% to 39% of cases.70,103,104
The most common radiographic abnormality is an enlarged vestibular
aqueduct, which is associated with progressive SNHL or Pendred
syndrome. The most common radiographic abnormality for unilateral
SNHL is a hypoplastic cochlear nerve. Imaging abnormalities are
typically seen more frequently in children with asymmetric or
unilateral SNHL compared with those who have bilateral loss.
HRCT has historically been considered the investigation of choice
for patients with hearing loss.105 It is able to identify cochlear
dysplasia, labyrinthine ossification, dehiscence of the semicircular
canals, the position of the tegmen and sigmoid sinus, as well as the
course of the facial nerve and possible dehiscence.106,107
However, approximately 57% of soft tissue abnormalities of the
inner ear may not be identified with CT scan,108 which is especially
important when the presence or absence of the cochlear nerve is to
be determined.107 Clemmens et al . reported that 26% of children
with unilateral SNHL will have a hypoplastic cochlear nerve.109
The cochlear nerve is defined as abnormally small if, on a sagittal
projection of the internal auditory nerve bundle, the nerve is found
to have a smaller diameter than the facial nerve or if the color of the
nerve is a lighter gray than the color of the facial nerve.109 Although
stenosis of the cochlear nerve canal as measured on HRCT is used
to indirectly predict cochlear nerve aplasia, it may not be a sensitive
enough modality.106,110 A bony cochlear nerve canal that is less
than 4.7 mm in diameter is a strong predictor of cochlear hypoplasia.
Currently MRI temporal bone imaging is the imaging modality of
choice. Although imaging takes longer and is more expensive than
HRCT, the ability to measure the cochlear nerve's diameter and the
avoidance of ionizing radiation are compelling reasons to prefer
MRI. The diameter of the cochlear nerve is especially important
when a cochlear implant is being considered. An absent cochlear
nerve is a relative contraindication for cochlear implantation, since
a functioning cochlear nerve is critical for a successful outcome.
Children with hypoplastic cochlear nerves will have poorer hearing
outcomes compared with those who have normal sized nerves.111
AUDITORY NEUROPATHY SPECTRUM DISORDER
ANSD is a heterogeneous disease characterized by behavioral
thresholds that do not match with other auditory measures such as
ABR or speech discrimination scores. There are multiple etiologies,
including genetic (eg mutation of the otoferlin [OTOF]
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2896 PART VIII Pediatric Otolaryngology

If any of the following present:

1) Mother positive for CMV infection
during pregnancy
2) Abnormal head size (OFC <10th %ile
OR >90th %ile at birth)
3) Intrauterine growth restriction (weight
<10th %ile for gestational age)
4) Unexplained hydrops
5) Intracranial OR intraabdominal
calcifications on first imaging exam
6) Unexplained hepatomegaly OR
splenomegaly (>1cm below the right or
left costal margin)
7) AST or ALT >100 U/L OR unexplained
direct bilirubin >1.0 mg/dL
8) Petechial rash or blueberry muffin
rash at any time
9) Leukomalacia, polymicrogyria,
lissencephaly, pachygyria, schizencephaly
10) Unexplained persistent
thrombocytopenia (platelets < 100k/mm3)
11) Failed hearing screen

Send urine CMV PCR

(obtained by 21 days of life when possible)

If CMV +, perform all of the following tests:

• CBC + differential • Head ultrasound
• CMP • Hearing: Diagnostic ABR, OAE
• Ophthalmology (inpatient or outpatient) (Tympanometry and Bone if indicated)
within 2 weeks of + test • Refer to Early Intervention

ASYMPTOMATIC if all of: SYMPTOMATIC if ÿ one of:

• Normal • Normal platelet Isolated • Thrombo • Abnormal HUS
ophthalmology count Sensorineural cytopenia • Hepatitis
exam • Non-megaly Hearing Loss • Hepatomegaly • Sensorineural
• Normal ABR* hepatosplen • Splenomegaly the hearings (if
• Normal head • Normal liver • IUGR/SGA also ÿ one of
ultrasound functions • Microcephaly above

*Normal ABR ÿ25 dBHL at all test frequencies (500,

1k, 2k, and 4k whenever possible) with present OAEs

At 3 months of age:
By 4 weeks of age:
Follow-up with audiology • Consult Pediatric ID to discuss antiviral
and otolaryngology treatment
• Contact Pediatric Neurology if abnormal
HUS or microcephaly

Fig. 193.5 Recommended workup for the child diagnosed with congenital cytomegalovirus (cCMV) infection.
The tests can help determine the severity of infection (asymptomatic, isolated sensorineural hearing loss, or symptomatic).
We recommend diagnostic testing of the auditory brainstem response in any child diagnosed with cCMV regardless of the
status of the newborn hearing screening test. ABR, Auditory brainstem response; ALT, alanine aminotransferase;
AST, aspartate aminotransferase; CBC, complete blood count; CMP, comprehensive metabolic panel; dBHL, decibel
hearing level; HUS, head ultrasound; IUGR, intrauterine growth retardation; OAE, otoacoustic emission; OFC, occipital
frontal circumference; PCR, polymerase chain reaction; SGA, small for gestational age.

gene) factors, ototoxic drugs, and anatomic (eg, cochlear nerve
hypoplasia) irregularities. The earliest cases of ANSD were
attributed to “high-risk” infants, specifically premature infants
admitted to the NICU or those who sustained a prolonged or
difficult delivery. As noted earlier, identification of ANSD requires
testing by AABR or diagnostic ABR, since TEOAEs may be present.
Unlike the typical case of a child with SNHL, hearing aids may
not be indicated for the treatment of a child with ANSD.
Early intervention and regular audiologic assessments are crucial.
If the child has normal behavioral and speech reception thresholds,
hearing aids are not indicated. If behavioral responses are poor,
then hearing aids may be considered at a conservative gain to
avoid high-intensity amplification. Some of these children will
become candidates for cochlear implantation, whereas others will
demonstrate hearing threshold improvement over time.112,113
Harrison et al. reported that of 75 ANSD patients evaluated at the
Hospital for Sick Children in Toronto, one in five showed some
threshold recovery that allowed adequate speech and language
development without the need for amplification.114
SUMMARY
Over the past decade, there has been a revolution in the detection
and diagnosis of pediatric SNHL. Nationally, over 90% of infants
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CHAPTER 193 Early Detection and Diagnosis of Infant Hearing Impairment 2897
are being screened for hearing loss. With the implementation of NHS,
congenital hearing loss is confirmed at an earlier age.
Currently EOAE only, AABR only, or a two-stage combination protocol is
acceptable for NHS. There is no gold standard throughout the United
States or even within each state. Multiple studies have reported limitations
and strengths of each protocol.
In the future, it would be beneficial to have a unified protocol for screening,
with tracking of referral rates from each screening test.
Furthermore, improvements in both the sensitivity and specificity of the
EOAE and AABR tests themselves can decrease the overall cost and
false-positive rates.
Advances in genetic testing, imaging quality, and early CMV screening
are providing families with an etiology for their child's hearing loss.
Unfortunately, loss to follow-up is still occurring at various stages of
patient evaluation. As a result, too many
Children are not receiving timely diagnostic testing or treatment.
Recent initiatives on early CMV screening may help overcome the 193
challenge posed by loss to follow-up. Hearing-targeted early CMV
screening has shown much promise in diagnosing previously missed
cCMV-infected infants and in improving the time to diagnosis and
treatment for all infants who fail their NHS.
Better diagnoses and novel interventions are needed for this condition.
Acknowledgments
The author would like to acknowledge the help of Jill Boettger, Roger
Faix, Stephanie McVicar, Lonnie Miner, Beth Knackstedt, Elizabeth
O'Brien, Betsy Ostrander, Kayla Hirschmugl, and Lindsey Tubaugh.
For a complete list of references, visit ExpertConsult.com.