Braz J Otorhinolaryngol.
2011;77(6):784-90.
ORIGINAL ARTICLE
BJORL
.org
Audiological and genetics studies in high-risk infants
Maria Francisca Colella-Santos1, Maria de Fátima de Campos Françozo2, Christiane Marques do Couto3,
Maria Cecilia Marconi Pinheiro Lima4, Tatiana Guilhermino Tazinazzio5, Arthur Menino Castilho6, Edi Lucia
Sartorato7
Keywords:
child,
hearing,
hearing loss,
hearing tests.
Abstract
H
earing is one of the main ways with which one person can contact the external world; it plays
a key role in their integration with society.
Aim: The objective of this study was to analyze the results of the hearing, medical and genetic
evaluation of high-risk infants who failed the newborn hearing screening.
Materials and Methods: Clinical and experimental study. We assessed thirty-eight neonates, with ages
between one and six months. The infants underwent the following procedures: medical interview;
immittance testing; Brainstem Auditory Evoked Potential; Transient Evoked Otoacoustic Emission and
otorhinolaryngological evaluation. DNA extraction from the oral mucosa was performed for genetic
studies using the protocol method adapted from the Human Genetics Lab of the CBMEG/UNICAMP.
Results: Regarding gender and presence of risk factors, significant statistically differences were
not found in normal hearing infants and in those with hearing loss. Concerning gestational age,
term infants were more affected by hearing loss. Hearing loss was identified in 58% of the sample,
conduction hearing loss represented 31.5% (12/38) and neurossensory 28.9% of cases. There were
none of the genetic mutations most commonly seen in cases with a genetic etiology.
Conclusion: Hearing loss was identified in the majority of High-risk infants.
Doctoral degree, assistant professor and coordinator of the Speech Therapy Course, Medical School, UNICAMP.
2
Doctoral degree, assistant professor of the Speech Therapy Course, Medical School, UNICAMP.
3
Doctoral degree, assistant professor of the Speech Therapy Course, Medical School, UNICAMP.
4
Doctoral degree, assistant professor of the Speech Therapy Course, Medical School, UNICAMP.
5
Master’s degree, speech therapist of the Neonatology Unit, Prof. Dr. José Aristodemo Pinotti Women’s Hospital (CAISM).
6
Doctoral degree, otorhinolaryngologist of the Ophthalmology/Otorhinolaryngology Department, Medical School, UNICAMP.
7
Doctoral degree, researcher of the Genetics and Molecular Biology Center (Centro de Biologia Molecular e Genética), UNICAMP.
Campinas State University (Universidade Estadual de Campinas) – UNICAMP.
Send correspondence to: Rua Tessalia Vieira de Camargo, 126. Campinas - SP. CEP: 13083-970.
CNPq and FAEPEX/UNICAMP.
Paper submitted to the RBORL-SGP (Publishing Management System) on 19/3/2011. Code 7654.
Accepted on 17/6/2011 23:43:59.
Paper submitted to the BJORL-SGP (Publishing Management System – Brazilian Journal of Otorhinolaryngology) on March 19, 2011;
and accepted on June 17, 2011. cod. 7654
1
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the etiology of deafness be established to define the
prognosis and implement appropriate measures.
There are several causes of congenital hearing
loss – those acquired during the prenatal period or within the first days after delivery. The causes of hearing
loss may be genetic or environmental. The etiology of
genetic origin hearing loss may be syndromic, those
associated with craniofacial or neck malformations, skeletal dysplasia, skin or ocular abnormalities, neurologic
diseases, renal or metabolic dysfunction, and others.
It has been estimated that 30% of cases of prelingual
deafness are syndromic and 70% are non-syndromic16.
Non-syndromic deafness may have several patterns
of inheritance: linked to the X chromosome (DFN) in
1-3% of cases; autosomal dominant forms (DFNA) in
15% of cases; and autosomal recessive forms (DFNB) in
80% of cases. Furthermore, there are cases of maternal
inheritance due to mitochondrial gene mutations16. In
developed countries, about 60% of hearing loss cases
are genetic in origin17.
Environmental factors include congenital infections, perinatal, and postnatal factors.
Thus, the purpose of this study was to investigate the results of an audiologic, otorhinolaryngologic,
and genetic evaluation of high-risk infants that failed
in neonatal hearing screening, taking into account the
variables male/female sex, number of risk indicators,
and gestational age. Hearing loss was also analyzed
according to type, grade, affected side, and possible
etiology.
INTRODUCTION
Hearing is one of the main forms by which individuals establish contact with the external world, and is
thus of utmost importance for integration within society.
The estimated incidence of significant and bilateral hearing loss is one to three for each thousand
newborns at low risk for hearing loss1,2; these numbers
increase to about two to five for each one hundred
newborns in intensive care units (ICUs)1,3,4, or 10.2%
as reported by Lima et al.5,6 According to the Brazilian
Geography and Statistical Institute (IBGE) the incidence
of hearing loss in Brazilians in the year 2000 census was
16.7%; in the state of Sao Paulo, this rate was 16.4%7.
Hearing loss is the most common congenital abnormality; it is more prevalent than other routinely screened
diseases. Hearing loss is 100 times more prevalent than
phenylketonuria and 10 times more prevalent than
hypothyroidism8. Infant hearing loss is considered a
serious public health issue because of its high prevalence and the ensuing consequences, which include
the infant’s language, cognitive, intellectual, cultural,
and social development9,10.
Universal neonatal hearing screening has been
recommended as the main strategy to reduce the age at
which a diagnosis of hearing loss may be made11,12. This
is the first step in a neonatal hearing health program,
and should be part of a multidisciplinary approach to
diagnosis involving mainly speech therapists, otorhinolaryngologists, and even geneticists at specific centers.
After a diagnosis, interventions such as sound amplification and rehabilitation should be started. An early
diagnosis followed by medical and phonoaudiological
interventions may help infants to establish contact with
the world of sound at the time of central nervous system
plasticity in the first year of life, which will increase
nerve connections and allow for improved results in
auditory rehabilitation and general development of
infants with hearing loss13,14.
A test battery with behavioral and electrophysiologic tests is recommended for the diagnosis of hearing
loss, such as: observing auditory behavior relative to calibrated and non calibrated sounds, acoustic immittance
testing, otoacoustic emissions, and brainstem auditory
evoked potential (BAEP). These suggested tests help
define the type, grade, and configuration of hearing loss,
which result in a differential diagnosis, interventions,
and the indication of hearing aids for sensorineural,
mixed, or conductive hearing loss15. It is important that
MATERIALS AND METHODS
A cross-sectional contemporary cohort study was
carried out. It was approved by the institutional review
board of the Research Ethics Committee of the School of
Medical Sciences of the University of Campinas (FCM/
UNICAMP). The reference number was 028/2008.
All infants born at the Women’s Hospital - Prof.
Dr. José Aristodemo Pinotti – CAISM/UNICAMP that
remained in the neonatal ICU and that failed hearing
screening, from February 2009 to March 2010 were
enrolled. Infants born in other hospitals or that did not
undertake all the evaluations within the study period
were excluded. There were 52 infants sent for a diagnostic assessment; this number is close to the sample
size based on the mean monthly delivery number at the
hospital (250 deliveries) and the number of newborns
that are admitted into the ICU (40 per month). Thus,
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there were 500 newborns in 12 months, of which on
average 10% (50 infants) failed in hearing screening6.
The hearing screening test was the automatic brainstem
auditory evoked potential (A-BAEP). An Algo 2e color
NATUS test equipment was used in an acoustic booth.
Infants passed the hearing screening test when the response was present for 35 dB bilaterally on the A-BAEP.
A staff speech therapist of the hospital Audiology Diagnostic Laboratory carried out the audiological
evaluation. The infants were aged 1 to 6 months when
tested; the procedures were as follows: a clinical history, evaluation of the middle ear status, BAEP testing
(electrophysiologic threshold and auditory pathway
integrity), and transient otoacoustic emissions (TOAE).
Infants slept naturally while the procedures were applied.
The clinical history was taken from family members to gather the following data: identification, the
hospital discharge report, and information about motor,
auditory and language development. The JCIH18 risk
factors were used as indicators of risk; these were also
gathered from the neonatologist’s hospital discharge
report.
The electrophysiologic threshold and auditory
pathway status were assessed by BAEP using an Eclipse
EP 25 Interacoustics device with in-ear phones. Auditory pathway status was investigated with non-variable
80 dB clicks presented 19 times per second, which
make it possible to evaluate auditory pathways and
identify issues up to the brainstem. The electrophysiologic threshold was gathered by sloping stimuli until
reaching the lowest stimulus intensity that caused the
V wave to appear. The stimulus was applied twice to
obtain a reproducible tracing and make sure the response was present. Surface electrodes were attached
over the right and left mastoid and the frontoparietal
regions of infants after cleaning the skin with abrasive
paste and applying electrolytic paste. The following
parameters were assessed: presence of waves I, III, and
V; absolute wave I, III, and V latencies; I-V, I-III, and
III-V interpeak latencies; wave V amplitude relative to
wave I amplitude; and I-V interpeak or wave V latency
interaural difference. TOAE were measured by an ILO
292 USBII device.
The tympanometric curve was used to evaluate
the middle ear; the probe tone was set at 1,000 Hz and
the ipsilateral acoustic reflex was measured from 500
to 4,000 Hz. A 235 H, Interacoustics device was used.
Responses in each test were recorded on answer sheets. Normal hearing was considered as a click
electrophysiologic threshold under 30 dB, absolute
and interpeak latencies within expected values for the
gestational age19, the presence of TOAE20, a type A
tympanometric curve, and the presence of an ipsilateral
acoustic reflex21,22.
Infants with abnormal results in at least one
auditory test were sent to an otorhinolaryngologist to
be evaluated. One of the researchers supervised this
assessment, which consisted of otoscopy to examine
the outer ear canal and the tympanic membrane, and
imaging if needed.
Hearing was classified as normal or impaired
depending on the analysis of the audiologic and
otorhinolaryngologic assessments. Hearing loss was
classified according to the type23, the grade (Silman &
Silverman24), and whether unilateral or bilateral. Genetic
screening was done by DNA extraction from oral mucosa sampled by the examiner after performing auditory testing in infants that failed hearing screening. The
35delG mutation was investigated in the DNA sample
by using standardized AS-PCR at the Human Molecular
Genetics Lab - CBMEG. (patent no. P10005340-6; test
method for deafness of genetic origin). The PCR was
used to search for the D(GJB6-D13S1830) and D(GJB6D13S1854) deletions with previously reported primers25.
A single diagnostic test involving both deletions in the
same PCR was done. Mitochondrial mutations were analyzed by amplifying DNAmt fragments of the MTRNR1
gene to detect the A1555G mutation; the abovementioned primer pairs were used. Restriction analysis to
detect mutations was applied to amplification products.
The statistical analysis was made with the SAS
software version 9.1.3. The significance level was 5%,
and was indicated by an asterisk (*).
RESULTS
There were 52 infants that failed hearing screening and that were referred for diagnosis. Of these, 38
infants (73%) participated in the study and underwent
the full diagnostic process. The remaining infants either did not come to scheduled visits or failed to sleep
after BAEP testing, among other factors, thereby not
undergoing the full diagnostic procedure within the
study period.
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Table 1 shows the results for infants with normal
or impaired hearing, related with the variables male/
female sex, indicators in the clinical history, and gestational age.
Table 3. Nursing infants according to the grade and etiology
of sensorineural hearing loss.
Table 1. Nursing infants that failed hearing screening, according
to normal or impaired hearing and the variables sex, gestational
age, and number of risk indicators.
Normal hearing
Hearing loss
n
(%)
n
(%)
F
3
18.8
10
45.5
M
13
81.3
12
54.6
1
1
6.3
0
0
2
8
50
13
59.1
3
2
12.5
2
9.1
3 or +
5
31.3
7
31.8
PTN
11
68.8
8
36.4
TN
5
31.3
14
63.6
p-valuea
0.867
0.7403
GA
0.0487*
Fisher’s exact test / chi-square test.
RI: Risk indicators; GA: Gestational age.
PTN: Preterm newborn; TN: term newborn.
a
Table 2 shows infants distributed according to the
audiologic and otorhinolaryngologic diagnosis.
Table 2. Nursing infants that failed hearing screening, according
to the audiologic and otorhinolaryngologic diagnosis.
Total
Conductive loss
Sensorineural loss
Total
N
%
N
%
16
42.2
16
42.2
12
31.5
Unilateral
2
5.2
Bilateral
10
26.3
Unilateral
1
2,6
Bilateral
9
23.7
10
26.3
38
100
38
100
Total
Moderate
1
0
1
Severe
4
0
4
Profound
5
0
5
Total
10
0
10
Neonatal hearing screening is the main method
to detect early hearing loss. The procedure needs to
be fast, simple, and able to select individuals with the
highest probability of abnormal function26. Newborns
in an neonatal ICU of the Caism/UNICAMP underwent
hearing screening preferably before being discharged
from the hospital; the procedures were automatic.
A-BAEP has been recommended for use mainly in
neonates in ICUs because of a higher incidence in this
population of risk indicators for retrocochlear abnormalities involving inner hair cells, auditory pathways
and/or the brainstem18,27.
Thirty-eight neonates failed the hearing screening, of which 25 (66%) were male and 50% were premature. Most of the children were male, which reflects
the demography of most neonatal ICUs28.
All infants had at least one risk indicator in the
clinical history (Table 1).
There was no statistically significant difference
in normal and impaired hearing neonates in relation
to the variables gender and number of risk indicators.
On the other hand, term neonates were more affected
by hearing loss than premature infants, and this finding
was statistically significant (Table 1). Term neonates
in this study required intensive care because of severe
intercurrences at birth such as anoxia, congenital malformation, syndromes, and congenital infection – all
of which are risk indicators for hearing loss. Published
studies describe neonatal features found in infants with
hearing loss diagnosed by neonatal hearing screening,
which includes gestational age over 37 weeks and birth
at weight over 2,500 grams28.
Analysis of the tests showed that 42% (16/38) of
children had normal results in all tests (Table 2). Their
failure in hearing screening and normal auditory test
results suggests either a temporary conduction type
change in the auditory system that regressed, or delayed
myelination of auditory pathways to the brainstem.
No. of RI
Normal hearing
Genetic causes
DISCUSSION
SEX
Diagnosis
Environmental causes
The 35delG mutation on the conexin 26 (GJB2)
gene was not encountered, neither were the D(GJB6D13S1830) and ∆(GJB6-D13S1854) deletions on the
GJB6 gene and the A1555G mutation on the MTRNR
mitochondrial gene.
Table 3 presents infants with sensorineural hearing loss, considering the grade and etiology.
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Infants with risk indicators in their clinical histories
that might indicate progressive and/or late onset hearing loss were referred for monitoring of hearing and
language development.
Mostly bilateral conductive hearing loss was present in 31.5% (12/38) of the sample (Table 2). Conductive
hearing loss was present in 55% (12/22) of children.
Audiological testing (BAEP) revealed absence of TOAE,
type B tympanometric curve, absence of ipsilateral
acoustic reflexes, and a normal auditory pathway at 80
dB. We found that the Down syndrome was present in
4 of 12 (33.33%) cases of conductive hearing loss; the
external ear and the outer ear canal were malformed in
one of the cases of unilateral conductive hearing loss.
Bone et al.29 published similar results showing
conductive abnormalities in children that failed hearing screening; the most common cause in these cases
was otitis media. These abnormalities were variable,
episodic, ranging from mild to moderate, never beyond
50 dB30. Otitis media is highly prevalent in infancy,
especially in high risk infants; middle ear secretions occur mostly between the 4th and 12th months, and occur
least in the first three months of life30-33. It is multifactorial and associated with lack or early interruption of
breastfeeding, feeding in decubitus, a first episode of
acute otitis media before six months of age, immature
or deficient immune system, stays in nurseries where
common colds and the flu occur frequently, and passive
smoking34. Infants presenting secretory otitis during the
neonatal period are at a highest risk for chronic otitis
media within the first year of life35. Studies on the occurrence and recurrence of middle ear secretion have
shown a higher frequency of recurrences of four or
more episodes in males; the highest incidence of middle
ear secretion was in the first month of life. The authors
also found that infants breastfed until 6 months of age
had a higher recurrence rate – four or more episodes.
The opposite was seen in infants nursed during more
than 10 months. The authors recommended programs
to prevent, diagnose, and treat otitis, especially because
the first years of life are critical for development; they
also suggested that healthcare professionals encourage
breast feeding30.
Preventive measures, such as encouraging breast
feeding, positioning the infants adequately while nursing, avoiding passive smoking, and other initiatives,
may minimize conductive hearing losses. Such losses
impair the development of hearing and language by
causing sensory deprivation fluctuating hearing that is
typical of otitis media.
The incidence of hearing loss in Down syndrome
infants ranges from 2.6% to 67.5%; it has been attributed
mainly to a high rate of secretory otitis media36,37. Strome
et al.37 reported 70% middle ear effusion in 107 Down
syndrome patients aged below 1 year. Several factors
appear to increase the incidence of secretory otitis
media, including: abnormal auditory tube anatomy,
abnormal ossicular chain, dysfunction of muscles that
open the auditory tube, and stenosis of the external
acoustic meatus37.
These infants were receiving otorhinolaryngological treatment, periodic audiologic evaluations, and
were monitored for language and hearing development.
Published reports have shown that some cases of middle
ear involvement resolve spontaneously without harm to
development, whereas in other cases, the disease becomes chronic. In this case it may compromise language
and educational development, and if left untreated,
may progress and involve the mastoid cells or even
the cranial cavity, which leads to serious complications
including inner ear involvement and sensorineural
hearing loss29,33.
We found sensorineural hearing loss in 28.9%
(10/38) of the sample; five cases were moderate to
severe, and five cases were profound loss (Table 3).
These infants were referred for evaluation and fitting
of hearing aids, guidance for parents, and phonoaudiological rehabilitation. The most frequent risk indicators
in the clinical histories were elevated blood bilirubin
levels, perinatal anoxia and mechanical ventilation, and
ICU stay for more than five days.
The results of three infants among the cases of
bilateral profound sensorineural hearing loss were compatible with the auditory neuropathy spectrum disorder
(ANSD), which consist of cochlear microphonism, absence of waves I, III, and V at 100 dB in BAEP testing,
TOAE, a type A tympanometric curve, and absence
of acoustic reflexes. An elevated bilirubin level was a
risk indicator in the three cases – bilirubin levels were
above 28 mg/dL.
Findings in the ANSD include 8th cranial nerve
and/or brainstem dyssynchrony, disordered inner hair
cells, dysfunctional spiral ganglion fibers38, abnormal
synaptic afferent transmission between inner hair cells
and the 8th cranial nerve39, and normally functioning outer hair cells. Most cases present bilateral abnormalities
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ranging from severe to profound loss. However, unilateral cases and moderate losses have been reported,
which suggests an inhomogeneous entity40. The ANSD
may occur in the absence of any other apparent medical
condition; a history of elevated blood bilirubin levels
in the perinatal period and asphyxia or anoxia is frequent40. The ANSD is much more common in infants
admitted into neonatal ICUs40. The reported prevalence
in the literature ranges from 0.2% to 4% in infants at risk
for hearing loss, and 0.5% to 15% in infants with known
hearing loss40,41. The prevalence is lower in studies that
enroll older children or those that study in schools for
the deaf; it is possible that the ANSD is only diagnosed
objectively in the first months of life when otoacoustic
emissions are present because of normal outer hair cell
function. As the disease progresses, these cells become
inactive or may have been injured by hearing aids in
undiagnosed infants. Declau et al.17 reported a diagnosis
of ANSD in two cases (4.2%), one of which had elevated
blood bilirubin levels in the perinatal period and the
other had no risk indicators. It is important to make
the differential diagnosis of sensorineural hearing loss
because approaches will vary compared with measures
taken to treat other forms of permanent hearing loss.
All study subjects were normal for the 35delG
conexin gene 26 (GJB2) mutation. The V27I polymorphism on the GJB2 gene was found in subject 1 in
heterozygosis, which is not relevant for hearing loss,
as is the case for silent mutations. Although the 5delG
mutation was not found in the sample after screening,
it is extremely important since it is present in 70% of
cases of deafness when the GJB2 gene is involved.
The prevalence of carriers of the 35delG mutation in
Brazil, as encountered in a survey of 620 neonates
in Campinas (Sao Paulo state) is 0.97% – about 1:103
heterozygotes42. A negative result for mutations in the
GJB2 gene reduces the empirical risk of a genetic cause
of deafness. Besides the GJB2 gene, ∆(GJB6-D13S1830)
and ∆(GJB6-D13S1854) deletions on the GJB6 gene
were also analyzed. None of our subjects had any of
these deletions. We also tested for the A1555G mitochondrial mutation, which is associated with hearing
loss and use of aminoglycoside antibiotics, and did
not find this abnormality in any of our study subjects.
Declau et al.17 undertook a prospective study
of audiological findings and causes of hearing loss in
170 infants that failed neonatal hearing screening, of
which 13 were admitted to the neonatal ICU. Infants
that failed were referred for electrophysiologic testing
(BAEP, stable state responses and/or behavioral tests).
Permanent hearing loss was present in 61.5% of infants
admitted to a neonatal ICU. The male to female ratio
of hearing loss was 3/0. The mean hearing loss was 60
dBHL. The most prevalent risk factors were mechanical
ventilation, low weight, and elevated blood bilirubin
levels. Environmental causes were the etiology in 39.6%
of hearing loss cases; the most frequent was congenital
cytomegalovirus infection (18.8% of cases).
According to the literature, the cause of hearing
loss is genetic in 50% of cases and environmental in
another 50% of cases in developed countries42,43. Also,
the most important environmental factors for hearing
loss are congenital infections, ototoxicity, prematurity,
and neonatal anoxia43.
In our study, environmental factors in the history of infants were the most likely causes, because
no genetic mutations commonly implicated in hearing
loss were found (Table 3). Identifying the etiology of
hearing loss is a relevant point that provides new information for auditory rehabilitation, the prognosis, and
the family. Furthermore, these studies may help clarify
the epidemiological factors of hearing loss, which may
support preventive and surveillance programs.
CONCLUSION
Analysis of audiologic, otorhinolaryngological,
and genetic findings in high risk nursing infants that
failed hearing screening showed that the frequency of
hearing loss was higher in term neonates compared
to premature neonates. Children with predominantly
bilateral conductive and sensorineural hearing loss had
a similar distribution. The likely causes of sensorineural
hearing loss are environmental factors. The diagnosis
and etiology of deafness are extremely important for
establishing the prognosis and appropriate therapy.
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