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Original ResearchPediatric Otolaryngology

Identification of Hearing Loss in Pediatric


Patients with Down Syndrome
Albert H. Park, MD1, Matt A. Wilson, MD1, Paul T. Stevens2,
Richard Harward, AuD3, and Nancy Hohler, AuD4

No sponsorships or competing interests have been disclosed for this article.

Abstract
Objective. To determine the type of hearing loss, incidence of
the lost to follow-up rate, and the time to diagnose sensorineural hearing loss (SNHL) in children with Down syndrome (DS) identified from a statewide database.
Study Design. Case series with chart review.
Setting. Pediatric referral center.
Subjects and Methods. Three hundred forty-four patients
with DS born in Utah between January 2002 and December
2006 were identified using the Utah Department of Healths
Newborn Hearing Screening database and birth defects
registry.
Results. Three hundred thirty-two patients were included in
the study. Eighty-seven infants (26.2%) did not pass their
newborn hearing screening (NBS). Thirty-three of these
children (37.9%) had a conductive hearing loss attributed to
serous otitis media. Five infants had SNHL; 3 children were
diagnosed with a mixed hearing loss (MHL). The average
time to diagnose a sensorineural hearing loss was 485 6
601 days. One child who passed his NBS was subsequently
found to have an SNHL. More than 43% of the newborns
with DS who passed their NBS developed a conductive
hearing loss requiring insertion of ventilation tubes. Eightyfour percent of newborns with DS who did not undergo
NBS did not have any apparent subsequent audiologic
testing.
Conclusion. Patients with DS present with a relatively high
incidence of conductive hearing loss, MHL, and SNHL and a
higher lost to follow-up rate compared to patients without
DS. The authors were not able to diagnose SNHL within
the 90-day period recommended by the Joint Committee
on Infant Hearing.
Keywords
newborn hearing screening, Down syndrome, sensorineural
hearing loss
Received September 20, 2010; revised August 25, 2011; accepted
September 9, 2011.

Otolaryngology
Head and Neck Surgery
146(1) 135140
American Academy of
OtolaryngologyHead and Neck
Surgery Foundation 2012
Reprints and permission:
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DOI: 10.1177/0194599811425156
http://otojournal.org

own syndrome (DS) is estimated to occur in 1 in


700 to 1 in 1000 live births, making it one of the
most common genetic syndromes.1 Common manifestations of this syndrome include external ear canal stenosis, chronic ear disease, and hearing loss, conditions many
otolaryngologists, audiologists, and primary care physicians
regularly face.2 Stenotic ear canals occur in up to 50% of
newborns with DS, making the diagnosis of otitis media
with effusion challenging.3 Several studies have cited the
increased incidence of chronic ear disease in this population.3,4 Estimates of hearing loss range from 38% to 78% of
all DS patients.5-9
Much of this information had been presented before the
advent of universal newborn hearing screening. Because
many of these cited articles reporting the relatively high
incidence of conductive and sensorineural hearing loss
(SNHL) have been in the literature for several decades, it
would be informative to determine whether universal newborn screening programs have been successful in diagnosing
these patients expeditiously. The purpose of this study is to
determine whether a statewide newborn screening program
provides identification of sensorineural hearing loss by 3
months of age, the distribution of hearing loss type in this
program, and the lost to follow-up rate. We hypothesize that
the time to diagnosis of DS infants with sensorineural hearing loss will not be within the guidelines mandated by the
Joint Committee on Infant Hearing (JCIH) and that the incidence of conductive hearing loss, SNHL, mixed hearing
loss, and indeterminant loss, as well as the lost to follow-up
rate, is high.10

1
Division of OtolaryngologyHead and Neck Surgery, University of Utah,
Salt Lake City, Utah, USA
2
University of Utah School of Medicine, Salt Lake City, Utah, USA
3
Utah Department of Health, Salt Lake City, Utah, USA
4
Audiology, Primary Childrens Medical Center, Salt Lake City, Utah, USA

This article was presented at the 2010 AAO-HNSF Annual Meeting & OTO
EXPO; September 26-29, 2010; Boston, Massachusetts.
Corresponding Author:
Albert H. Park, MD, Division of OtolaryngologyHead and Neck Surgery,
University of Utah, 50 North Medical Drive, 3C 120, Salt Lake City, UT
84132, USA
Email: pcapark@ihc.com

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OtolaryngologyHead and Neck Surgery 146(1)

Newborns with DS
Alive
n = 332

DS Failed NBS
n = 87

Normal Hearing
n = 16
(18.4%)

Conductive HL
n = 33
(37.9%)

Sensorineural HL
n=5
(5.7%)

DS Passed NBS
n = 232

Mixed HL
n=3
(3.4%)

DS No NBS
n = 13

Indeterminant
n=8
(9.2%)

No Follow-up
n = 22 (25.3%)

Figure 1. Distribution of normal and hearing loss in the Down syndrome (DS) population. HL, hearing loss; NBS, newborn hearing
screening.

Methods
Subjects
Three hundred forty-four newborns with DS born in Utah
between 2002 and 2006 were identified using the Utah Birth
Defects Registry. Several outcome measures were determined
using the Utah Department of Health Hi*Track information
management system and the Intermountain Healthcare (IHC)
electronic medical record system. The Utah Newborn
Hearing Screening Program has been considered a very successful initiative, with more than 97% of the 53,080 newborns delivered being screened for 2010 with an overall
initial state pass rate of 95.8%. The Utah Department of
Health is responsible for data collection and management,
follow-up, and technical assistance for the state screening
program. It helped establish several audiological diagnostic
sites throughout the state that can provide complete diagnostic services to newborns and infants. The IHC is the largest
health care provider in the Intermountain West. More than 20
hospitals, including the only childrens hospital in Utah,
Primary Childrens Medical Center, are owned by the IHC. It
provides insurance to 19% of all Utah residents.
Outcome measures included newborn hearing screening
results, otoscopic examinations, behavioral audiometry, tympanometry/immitance, otoacoustic emissions, auditory brainstem response (ABR) testing thresholds, magnetic resonance
and computed tomography temporal bone imaging, time to
diagnosis of hearing loss, time to hearing loss treatment, and
surgical treatment. Institutional review board (IRB) approval
was obtained from the Utah Department of Health,
University of Utah, and Primary Childrens Medical Center.
The measures of hearing were categorized as normal hearing, conductive hearing loss, sensorineural hearing loss,
mixed hearing loss, indeterminant hearing result, and lost to
follow-up. Normal hearing results included behavioral thresholds at 500, 1000, 2000, and 4000 Hz better than 20 dB or

ABR thresholds better than 30 dB. Conductive hearing loss


was confirmed with the presence of an air-bone (AB) gap
greater than 10 dB based on ABR or behavior testing.
Sensorineural hearing loss was defined as a greater than a
20-dB threshold on behavioral testing at 500, 1000, 2000,
and 4000 Hz or greater than 30-dB thresholds on ABR click
and/or tone burst thresholds with no AB gap present. Mixed
hearing loss included a combination of sensorineural and conductive hearing loss. Indeterminant hearing loss included subjects whose hearing loss type was not determined (eg, lack of
bone conduction testing). Lost to follow-up patients were
those whose audiologic and otoscopic testing could not be
found in the medical records (or in the Hi*Track database).

Results
Newborn Hearing Screening Data for DS and Non-DS
Newborns in Utah
Of 258,289 children born in the state of Utah between 2002
and 2006, 344 (0.13%) had Down syndrome, including 199
(57.8%) males and 146 females (42.2%). Twelve (3.5%)
died during the newborn period, and no additional data were
collected on these subjects. Three hundred thirty-two children had otoscopic and audiologic data available for analysis. Two hundred thirty-two newborns (69.9%) with DS
passed their newborn hearing screening (NBS; Figure 1).
This percentage is lower than the 92.8% of all infants
(234,545) who passed during this period. Eighty-seven
(26%) failed their screening, and 13 (3.9%) did not undergo
screening. The percentage of all infants not screened was
less than the DS group at 1.8% (4741 infants).

Distribution of Hearing Loss in the DS Newborns Who


Did Not Pass Their NBS
Of the 87 (26.2%) newborns with DS who did not pass their
NBS, 16 newborns with DS (18.4%) were subsequently

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137

Newborns with DS
Alive
n = 332

DS Failed NBS
n = 87

Normal Hearing
n = 124
(53.4%)

Conductive HL
n = 101
(43.5%)

DS Passed NBS
n = 232

DS No NBS
n = 13

Sensorineural HL
n=1
(0.4%)

Indeterminant
n=1
(0.4%)

No Follow-up
n=5
(2.2%)

Figure 2. Distribution of hearing loss in patients with Down syndrome (DS) who passed their newborn hearing screening (NBS). HL, hearing loss.

found to have normal hearing (Figure 1). Thirty-three


(37.9%) newborns with DS were diagnosed with a conductive hearing loss. Twenty-five of these infants had normal
hearing following insertion of ventilation ear tubes. Seven
infants had a persistent conductive hearing loss following
ear tube insertion and following resolution of otorrhea or
middle ear effusion. Audiologic testing for 1 infant was
inconclusive following tube insertion.
Five infants (5.7%) with DS were diagnosed with sensorineural hearing loss. The distribution of hearing loss ranged
from moderate to profound. Three of the 5 infants had unilateral loss. The time from screening to diagnosis of a hearing
loss was 485 6 601 days (range, 16-1185 days). Three of the
5 infants were diagnosed within 3 months of birth. One child
diagnosed 1185 days after birth had a complicated medical history, including DiGeorge syndrome, Robertsonian translocation,
antiphospholipid syndrome, encephalopathy, stroke, seizure disorder, aspiration, and ventilator dependence. Presumably, the
childs numerous hospitalizations and surgical procedures
delayed the diagnosis and treatment of his sensorineural hearing
loss. The other child diagnosed with hearing loss more than 3
months after birth required repair of an esophageal atresia.
During his hospitalization in the neonatal intensive care unit, he
underwent otoacoustic emission (OAE) and ABR testing at 16
days of life. The audiologist documented a concern for a right
moderate to severe hearing loss. The child unfortunately was
not seen for subsequent testing for another 3 years.
Three infants (3.4%) with DS were diagnosed with a
mixed hearing loss. Time from screening to a diagnosis of a
mixed hearing loss was 60 6 77 days. One child was diagnosed later than 90 days. This child had an unbalanced
atrioventricular (AV) canal requiring a pulmonary artery
banding followed by a Fontan procedure. The complex

congenital heart problems may have delayed a timely diagnosis for this infant. Eight children (9.2%) had an indeterminant diagnosis. Twenty-two children (25.3%) were lost to
follow-up. Community otolaryngologists treated some of
these infants, and their audiograms could not be found in
the IHC electronic medical record system.

Distribution of Hearing Loss in the DS Newborns Who


Passed Their NBS
Two hundred thirty-two newborns with DS passed their NBS
(Figure 2). One hundred twenty-four children (53.4%) maintained normal hearing. However, 101 infants developed conductive hearing loss, and 97 (96%) required insertion of
ventilation ear tubes. One child (0.4%) apparently developed a
sensorineural hearing loss. This child was born at 35 weeks
gestation and required admission to the neonatal intensive care
unit shortly after birth for maternal chlamydia, dysphagia, and
cardiomegaly. The chlamydia was treated with antibiotics. His
cardiomegaly resolved following a patent ductus arteriosus
(PDA) ligation; his feedings were transitioned from enteral
feeding to oral by the time he was discharged approximately
14 days later. The mother was concerned about her sons hearing as early as 6 months of age. It is unclear why she did not
obtain audiologic testing for him until he was 4 years old. She
did not know the results of his NBS. Audiologic testing
revealed a right profound and left severe sensorineural hearing
loss. He has been treated with hearing aids.
One child (0.4%) was diagnosed with an indeterminant
hearing loss. ABR testing revealed a mild to moderate bilateral hearing loss. Otoscopic examination showed no evidence of middle ear fluid. No bone conduction testing was
performed to help differentiate the type of hearing loss. He

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OtolaryngologyHead and Neck Surgery 146(1)


Newborns with DS
Alive
n = 332
(100%)

Newborns with DS
Alive
n = 332

DS Normal Hearing
n = 141
(42.5%)

DS Failed NBS
n = 87

DS Passed NBS
n = 232

DS No NBS
n = 13

Conductive HL
n = 135
(88.2%)

DS Hearing Loss
n = 153
(46.1%)

Sensorineural HL
n=6
(3.9%)

DS no follow-up
n = 38
(11.4%)

Mixed HL
n=3
(2.0%)

Indeterminant
n=9
(5.9%)

Figure 4. Distribution of hearing loss in a population with Down


syndrome (DS). HL, hearing loss.
Normal Hearing
n=1
(7.7%)

Conductive HL
n=4
(30.8%)

No Follow-up
n=8
(61.5%)

Figure 3. Distribution of hearing loss in Down syndrome (DS)


patients who did not undergo newborn hearing screening (NBS).
HL, hearing loss.

has been treated with hearing aids. Five newborns (2.2%)


with DS were lost to follow-up.

Distribution of Hearing Loss in the DS Newborns Who


Did Not Have NBS
Thirteen newborns (3.9%) with DS did not undergo newborn hearing screening (Figure 3). Subsequent audiologic
testing indicated 1 child (7.7%) with normal hearing and 1
(7.7%) with a conductive hearing loss. That child underwent
ventilation tube insertion, and a later audiogram demonstrated normal hearing thresholds. Eleven children (84.6%)
had no follow-up audiologic data reported or available.

Overall Breakdown of Hearing Loss Incidence


The overall incidence of hearing loss and hearing loss type
is shown in Figure 4. Of the 332 children with DS evaluated, 141 (42.5%) had normal hearing, 153 (46.1%) had a
hearing loss, and 38 (11.4%) had no audiologic data. Of the
153 with hearing loss, 135 (88.2%) had a conductive hearing loss. Six children with DS (3.9%) had a sensorineural
hearing loss; 3 with DS (2.0%) had a mixed loss. Nine children (5.9%) had an indeterminant hearing loss.

Discussion
Of the 332 children with DS evaluated, 42.5% had normal
hearing, 46.1% had a hearing loss, and 11.4% were lost to
follow-up. SNHL was detected in 3.9% of hearing loss
patients; a mixed hearing loss was less common at 2.0%.
Our reported rate of conductive hearing loss is similar to a
number of prior studies.6,11-14 Our reported rate of SNHL is
slightly lower than Davies 4% rate.14
More than 96% of all infants with DS born in Utah
between 2002 and 2006 underwent NBS. It is not clear why
13 DS infants did not undergo hearing screening. For other

infants born in Utah, we know that parental refusal and


labor and delivery staff failing to perform audiologic testing
are common reasons for missed NBS. Also, nearly 800
births per year are home births involving a midwife and
are less likely to be screened. The opportunity to obtain
NBS is crucial for these patients because our results indicate
that more than 84% of the infants who did not undergo
NBS did not obtain subsequent audiologic testing.
For the children who underwent NBS, we identified 87
(26.2%) who did not pass their hearing screen. Most were
found to have middle ear effusions requiring ear tube insertions. Not all these patients, however, had normal hearing
following tube insertion. Seven children with DS (21.2%)
had a persistent conductive hearing loss after surgery. This
result is slightly lower than the 40% rate of conductive hearing loss not attributable to middle ear effusion or tympanic
membrane perforation reported by Balkany et al15 but supports the need for accurate audiologic testing of all patients
with DS following tube insertion.
Every child with DS identified with a mixed hearing
loss, and all but 1 child identified with SNHL failed their
initial NBS. Unfortunately, the time from screening to diagnosis of an SNHL was not within the 90-day period recommended by the JCIH.10 Multiple factors appear to influence
the time to diagnosis of hearing loss in this population. As
described earlier, at least 2 children had multiple medical
problems that probably delayed the hearing loss diagnosis.
The known high incidence of conductive hearing loss from
middle ear fluid may have clouded the view of some practitioners. The medical records indicated that some physicians
accepted normal sound field responses as sufficient audiologic workup for a possible hearing loss. This view is contrary
to our finding that 3 of 5 patients with SNHL had a unilateral hearing loss. Several studies have also reported on the
adverse effects of unilateral hearing loss on speech development and quality of life of otherwise developmentally
normal children.16,17 Unilateral hearing loss in developmentally delayed children would also be expected to adversely
affect their speech development and quality of life.
Twenty-two infants with DS (25.3%) who did not pass
their NBS were lost to follow-up or lost to documentation.

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139

This rate is unfortunately consistent with many universal


newborn hearing screening and intervention programs.18,19
Shulman et al20 reported that 38% of all infants from 46
states and territories surveyed in need of a diagnostic evaluation did not receive one. They also noted that less than
half of all infants who failed an initial hearing screening
obtained an evaluation by 3 months of age. Improving surveillance data, ensuring a medical home, increasing subspecialty participation, providing family support programs, and
promoting the importance of early detection have been recommended to address this challenge.20
One hundred one infants (43.5%) with DS who initially
passed their NBS developed a conductive hearing loss from
middle ear fluid. Almost all these patients required ear tube
insertions. One can conclude from these numbers that regular otoscopic examination of these patients is critical to
avoid delays in hearing loss diagnosis. The discovery of 1
patient with SNHL following a normal NBS also supports
the need for regular audiologic testing of these children.
Davies14 reported on 1 patient with DS with progressive
SNHL over an 8-year period.
We would advocate a more aggressive and directed
approach toward the evaluation and treatment of children
with DS. Perhaps an approach advocated by Shott et al21
should be implemented. Their group recruited 48 children
with DS for serial otoscopic and audiologic examinations
over a 5-year period. Every child was seen every 6 months;
those with stenotic ear canals (approximately 40% of the
group) were seen every 3 months. Pediatricians were encouraged to send children for otolaryngologic microscopic ear
exams if they were unable to visualize the tympanic membranes. An auditory brainstem response study was performed
at least once for every child. Biweekly phone calls were done
to track patient care. The authors noted that 83% of the
patients required ear tube insertion and that they were able to
achieve a 98% normal hearing rate in these patients. They
also reported that only 1 patient was lost to follow-up.
Primary care physicians need to be aware of the relatively high incidence of hearing loss in their patients with
Down syndrome and our relatively poor success in achieving timely diagnosis and treatment. Perhaps these results are
not surprising because any earlier study by our group
reported a high degree of parental frustration and difficulty
achieving prompt evaluation and intervention in normal
children with hearing loss.18 Perhaps earlier otolaryngology
evaluation is warranted because these children commonly
have very stenotic ear canals, rendering otoscopic examination challenging, and many of these children will eventually
require insertion of tympanostomy tubes to remove chronic
middle ear effusions. The otolaryngologist can address both
conditions.
A strength of this study was the ability to identify a large
number of patients with DS from a statewide Utah registry
and the ability to use the Utah Department of Healths information tracking and management system and IHCs electronic medical record system. An outstanding collaborative
environment with the Utah Early Hearing Detection and

Intervention (EHDI) staff, Primary Childrens Medical Center


audiology and otolaryngology personnel, made this study
possible. The existence of just 1 childrens hospital in the
state also improved our ability to minimize any lost patients
to follow-up. A limitation of this study is its retrospective
design. Not all the patient data with respect to audiology testing or examinations were available. Physicians whose medical records are not kept in the IHC electronic medical record
system saw some patients. When an otolaryngologist outside
the IHC system treated a patient, we attempted to contact the
practice for audiologic and otoscopic data.
In summary, patients with Down syndrome present with
a relatively high incidence of conductive, mixed, and sensorineural hearing loss. Providers caring for this particular
population need to be aware of this high rate of hearing
loss. Unfortunately, there continues to be a shortage of specialists in rural areas who are trained to work with infants
and pediatric patients, and there is a general lack of understanding among most parents regarding hearing screening,
follow-up, and hearing loss. Although there has been significant improvement recently and physician knowledge and
attitudes regarding hearing loss are improving, the waitand-see approach is still pervasive. Therefore, it is not surprising that many state systems, including Utah, have failed
in their ability to consistently meet the national EHDI goals
of screening before 1 month, diagnosis before 3 months,
and referral to appropriate intervention programs before 6
months with these or any other children with special health
care needs.
Author Contributions
Albert H. Park, involved in project conception, analyzed the data,
and rewrote the manuscript; Matt A. Wilson, obtained the data
and wrote the initial manuscript draft; Paul T. Stevens, involved
in the original concept of the project, obtained IRB approval,
obtained the initial data, and involved in reviewing the manuscript;
Richard Harward, involved in the conception of the project and
data acquisition and was instrumental in the analysis and editing of
the article; Nancy Hohler, involved in project conception, data
acquisition, and preparation of the manuscript.

Disclosures
Competing interests: None.
Sponsorships: None.
Funding source: None.

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