CHARLES I.

BERLIN, PHD, THIERRY MORLET, PHD, LINDA HOOD, PHD

Management of Individuals with Auditory

Neuropathy Spectrum Disorder

Appreciation is extended to the following collaborators for their help with the There appears to be an epidemic of these ANSD patients, because we now
materials reported in this article: Carol Fernandez, Carolyn Ford, Ruth Bahr, routinely look for them with otoacoustic emissions and phase reversals of
Ben Russell; Michelle Arnold, Mavie Betancourt, Pat Carr, Nancy Muscato, click stimuli during ABR testing, as well as noting paradoxically absent
Patricia Blake-Rahter (University of South Florida Tampa, FL) middle ear muscle reflexes in the presence of normal otoacoustic emissions
(Berlin et al., 2005; Starr et al.,1996). It is likely that these patients have
Auditory neuropathy/auditory dys-synchrony (AN/AD), renamed by
been with us for years. There may be many, who have been the hearing aid
consensus at this meeting as Auditory Neuropathy Spectrum Disorder
- auditory therapy“failures,”that led to cochlear implantation without
(ANSD), is the quintessential disorder where many professions working
recognizing the ANSD diagnostic criteria. Other misdiagnosed patients
together may serve the patient well. Audiology, speech language
may have been responsible for the“miracles”in which patently deaf
pathology, otolaryngology, neurology, early interventionists, and deaf and
children begin to hear and speak by two or three years of age and appear
special education specialists can do their very best work cooperatively from
to“outgrow”their congenital difficulties. (Deltenre et al., 1999; Berlin et
a common knowledge base, assuming they all understand the unique
al., 2001; Attias and Raveh, 2007; Rance, 2005).
temporally disorganized, static-like, nature of the speech signal perceived
by the ANSD patient. (Zeng et al., 1999). Our goal with these patients, as In some of these patients the auditory brainstem response (ABR) is never
succinctly stated to me by one of my patient’s fathers is to“produce a normal; for others, better labeled“auditory immaturity,”both the ABR and
‘literate taxpayer’”in spite of the uncertain auditory impact and trajectory language acquisition ultimately reach normal values. It is this
of an abnormal auditory system that shows absent ABR and normal unpredictability of ANSD, coupled with the superficially conflicting nature
otoacoustic emissions. of the tests we use that has led to this unique set of problems. The
phonologic, acoustic, auditory linguistic and developmental differences
This paper is based on what we have learned from following 66 of our own
between and among patients becomes clearer as we learn more about the
auditory neuropathy patients at Louisiana State University Health Sciences
pathophysiology and developmental trajectories of this spectrum disorder
Center (New Orleans), from 11 patients referred from the University of
(Zeng et al.,1999; 2005; Starr et al., 2000; Rance et al., 1999; 2004; Rance
Southern Florida (Tampa), and from 194 patients from other audiologists
and Barker, 2008).
added to our data base.
We have collected a large data base of 271 confirmed ANSD adult and child
In regard to the management of patients with ANSD, we do our worst
patients evaluated between 1980 and 2005 at the Louisiana State
work by:
University Medical Center, Kresge Hearing Research Laboratory,
1. Being methodologically rigid; Department of Otolaryngology Head and Neck Surgery in New Orleans, LA
2. Withholding cochlear implantation based on“good audiogram
sensitivity which does not meet (outdated) criteria of profound
deafness”;
3. Failing to evaluate the temporal bone for absent cochleae or
absent VIII nerves;
4. Treating some of these patients for years with hearing aids and
auditory-verbal techniques as though they were any other
patient with a mild-to-moderate sensorineural loss. In the
process, we often fail to involve our Speech-Language colleagues
to test the patient’s current and future language acquisition Figure 1. Language falls along a continuum.
levels and abilities.

35
Management of Individuals with Auditory Neuropathy Spectrum Disorder

and from 2006 to 2008 at the University of South Florida, Departments of situations and has not responded well to the use of hearing aids. According
Communication Sciences and Disorders and Otolaryngology Head and to the patient, aids had been repeatedly suggested by many professionals
Neck Surgery who fit whatever audiogram was available using real ear measures and
NAL targets.
Their language falls along a continuum as shown in Figure 1.
Behavioral audiograms have not been as valuable for management
Overview of Principles and Sample Patients decisions regarding these patients as similar audiograms are for patients
Auditory Neuropathy Spectrum Disorder (ANSD) is as much a speech- with more common types of hearing loss. For example we have two
language and deaf education issue as it is an audiologic and otologic issue. patients with nearly normal pure tone sensitivity audiograms, one of
Eighteen of 260 patients (7%) in our data base with ANSD learned whom is developing speech and language normally [P0-4)] with no
language and speech spontaneously — despite never showing intervention (she is one of the 18 patients mentioned above), and the
synchronous ABR tracings. They were often misdiagnosed as having other who has lost hearing post-lingually. Because of impending blindness
central auditory disorders because of their characteristically poor hearing
abilities in noise and because they show nearly normal audiometric pure
tone sensitivity.
Frequency (Hz)
There may be many such patients among us, born before universal hearing -10
250 500 1000 2000 4000 8000

screening programs were available. These patients would have had no 0

developmental speech, language or hearing complaints. In fact, the first 10

dB Hearing Level
20
patient (NB) we knowingly saw was a 12-year-old“normal”volunteer who
30
presented for a normative ABR research project. We were surprised to find 40
no ABR, no middle ear reflexes accompanied by a near-normal-hearing 50
audiogram which worsened to what we saw 21 years later (Figure 2). Now 60
70
80
90
100
110
1 2 3 4 5 6 7 8 9 10 11
B
C
Figure 3.

from Leber’s Optic Neuropathy she, received a cochlear implant [EDV-3].

EDV-3 and her similarly afflicted father have both benefited enormously
from cochlear implants. Her pre-operative audiogram is shown in Figure 3.
Her pre-operative speech recognition in quiet was 8% in one ear and 0% in
the other ear. Postoperatively, with the cochlear implant, her
discrimination improved to 78% in noise, an exceptional result for any
cochlear implant patient regardless of diagnosis and etiology. The
pragmatic evidence for usefulness of the implant is this: neither could use
a phone before the surgery. Both do so easily now.
Figure 2.
Looking back over many years, were hearing
aids a good choice?
almost 29 years later, this patient still shows no ABR and still has normal
otoacoustic emissions with absent middle ear muscle reflexes. In daily life, Hearing aids seemed initially valuable in some patients who showed
improved audibility and improved speech discrimination in quiet. But
he is a successful attorney and complains only of difficulty hearing in noisy

36
 Management of Individuals with Auditory Neuropathy Spectrum Disorder

retrospectively, poor hearing in noise seemed to preclude strong age Why the Discrepancies Regarding Hearing
appropriate language acquisition by auditory eavesdropping in the young Aid Use?
children. They seemed to be either falling behind or simply not catching up Our hearing aid data do not match those data reported from other
to their normal hearing peers while they used aids. countries where hearing aids and rehabilitation services, as well as
All but the first1 of our 77 patients seen between 1982 and 2008 were cochlear implants, are supplied free of charge to all hearing impaired
offered hearing aids but most did not use them for more than a 30- to 60- patients (Deltenre et al., 1999; Rance, 2005; Berlin et al., 2007). Whether
day trial period. All of the aids accepted were fit with real ear measures to the patients in other countries continue to use their hearing aids
NAL or DSL criteria whenever possible, although often we could not be sure throughout life and have age-appropriate language is not yet clear. Our
of the stability and meaningfulness of the audiogram. data base appears to have the longest time-span (17 years since our first

Hearing Aid Success based on

acquisition of normal language age. Success with Cochlear Implants
80
Number of Children, birth to 12 70
60
70
50
60 40
50 30
20
40 10
30 0
Too Soon Slow or Good
20 to Tell Uncertain Success,
10 Interactive
Use
0
Little Slight Good Figure 5. Success with Cochlear Implants
Success
Interactive
Use
Figure 4. Hearing Aid Success based on acquisition of hearing aid attempt) over which to make such a determination regarding
normal language age. Number of Children, birth to 12 language performance. Hearing aids have not appeared generally
promising to facilitate normal language age development with our 7-10
year overview. Many patients reported in the literature have shown
In analyzing all the collective data retrospectively from all the clinics who
improved audiological sensitivity, and in some cases improved speech
participated, we found that only 5 hearing aid users reached age
discrimination for single syllable words in quiet etc. But the data do not
appropriate language proficiency with this approach. Rance et al. (2008 )
show that the majority of children who showed these audiological
and Deltenre et al. (1999 ) report better hearing aid results based on
improvements in quiet, developed age-appropriate language as measured
improved speech discrimination performance in quiet (See also Berlin,
by speech-language pathologists.
with Rance et al, 2007) and at present we have only conjecture based on
health care system differences and different criteria for“success”to explain By contrast, cochlear implants have been efficient in supporting
the differences in our observations. age-appropriate language development (Shallop et al., 2001;
Peterson et al., 2003).
There are data in the literature that hearing aids have generally not been
useful in adults with ANSD (Deltenre et al., 1999; Rance, 2005) but are of Because our data base is affected by our health care system and the
value in children. These adult ANSD patients seem to have widespread optional choice of our colleagues to send us the results from their patients,
“dead zones”in the cochlea (Moore, 2004). In fact we believe that ANSD we (Berlin, Morlet and Hood) hope to set up and maintain the data base on
may represent a special form of dead zone — perhaps completely or an internet site in an easily accessible format. Thus, we plan to control the
partially penetrating the inner hair cells and auditory nerve fibers data base so that only data from bona fide ANSD patients will be included
(Amatuzzi et al., 2003; Starr et al., 2008). but from all available health care systems, and not just the USA. This

1 He had a normal pure tone audiogram, no clinical complaints, and was a 12 year old“normal”with no ABR He was a volunteer in an ABR study that was designed to outline normal latencies and amplitudes in
various age groups.

37
Management of Individuals with Auditory Neuropathy Spectrum Disorder (ANSD)

should give us a better insight into the long term benefits of various forms It is important to differentiate ANSD from auditory immaturity (Attias and
of management. Raveh, 2007; Psarromatis et al., 2006). In true ANSD, the abnormal ABR
never becomes normal. In auditory immaturity, however, the ABR (and
The Importance of Collaboration with
concurrent speech and language) become normal over time. At present we
Speech-Language Pathologists and Teachers have few diagnostic tools to separate the two disorders other than history,
of the Deaf. watchful waiting and re-testing routinely with ABR during early language
Children diagnosed with ANSD need to be able to eavesdrop on language training and assessment sessions. Two new physiologic approaches might
in the same way as normal hearing children do. We cannot predict in help separate maturational from true ANSD (McMahon et al., 2008; Walton
advance, from any of our current auditory tests, with the possible et al., 2008). Electrical stimulation is also useful if it shows a good
exception of late cortical potentials (Sharma et al., 2005; Rance and response, but hard to evaluate if there is no response. (Runge-Samuelson
Barker, 2008), whether a given child will acquire enough linguistically et al., 2008).
useful input to learn language spontaneously. Therefore, we recommend
Until these new techniques become more commonly used, we
that a speech-language pathologist should monitor the child’s progress
recommend non-invasive, visually supported language training while we
and guide the family as to whether suitable progress is being made during
wait and watch children with histories of prematurity, hypoxia,
rehabilitation. Our goal is to allow the child to be linguistically and socially
hyperbilirubinemia and similar birth dyscrasias. This would do no harm,
interactive during the pre-school years so that they might join normal
but help minimize language delay regardless of the child’s language
hearing peers by kindergarten.
trajectory or the parents’therapeutic and educational choices. However in
How Do We Know the Management is Working? children who have genetic histories such as Otolferlin, implants have been
Insofar as the child makes more than three months progress every quarter, most successful in our patients.
then the therapeutic choices made by the family are salutary. If the child Next we must separate genetic etiologies like Otoferlin and MPZ, from
does not make such progress, changes in the treatment, management and neonatal dyscrasias which can cause ANSD. These two categories of
habilitation programs should be considered. Thus, we encourage regular etiologies lead to different ANSD recovery courses. Taking a complete
monitoring by concerned and informed professionals (i.e., speech- birth history and hearing loss pedigree should be helpful because if
language pathologists, auditory verbal therapists, and/or teachers of the there is no birth history contribution, and there is a putative genetic
deaf) to assure that suitable progress is being made and management cause, early cochlear implantation without waiting for spontaneous
should be adjusted if the child is not progressing as desired. recovery has been shown to be quite powerful (see patients BH-1 and
JH-1 #s 12 and 13–and TH-1 #14 below). When, and if, a genetic chip
The Management Theory Our primary responsibility in planning
becomes available, these ANSD candidate patients should be screened
management of the child with ANSD is to do no harm. What has harmed
for all known genes. If Otoferlin or Pejvakin or MPZ genes are found, the
such children in the past according to our data base? Treating the ANSD
likelihood is lower that this is a form of auditory immaturity, regardless
patient with the immediate application of powerful hearing aids and
of birth history. (See http://webh01.ua. ac.be/hhh/). It is essential to
relentless mouth-covered Auditory-Verbal Therapy (A-VT). This strategy
perform an MRI with special focus on the VIII nerve as Buchman et al.
has been especially detrimental when applied to two different types of
(2006) have shown a surprising incidence of total absence of the VIII
children. In the first example, a child who has“Auditory Immaturity,” will
nerve in children with ANSD signs. This absence of the VIII nerve, of
outgrow the disorder by developing a normal ABR and normal hearing
course, immediately rules out success with cochlear implants and should
audiogram, but may suffer a noise-induced hearing loss secondary to the
be noted as early in the child’s development as possible. If the absence
power hearing aids. The second example is a child whose ANSD dys-
is in one ear only, it makes the choice of ear clear. If it is absent in both
synchrony is so severe, even with a mild-to-moderate pure tone
ears, other routes must be considered including brainstem implants
audiogram, that mouth-covered AVT is of absolutely no help. A
and/or cued speech and/or sign language. (Colletti, 2007).
sophisticated AV Therapist should recognize quickly in this child , that
traditional mouth-covered A-V methods do not work, and other options Protocols for Management Our speech-language team has
with more visual support must be considered. (Personal communication , proposed the following protocol for establishing communication skills
Karen MacIver-Lux , AVT, has had experience with such children, and has baselines. It is recommended to watch and monitor language growth
offered this support and advice in our past discussions). and development every three months. If the child enters the testing

38
 Management of Individuals with Auditory Neuropathy Spectrum Disorder

procedure with significant delay in language acquisition, more than children in their school, were not making the spoken language progress
three month’s progress must be made each quarte r for him to ultimately the parents desired. The children both received cochlear implants,
join his peers academically. although the prevailing wisdom of the time considered ANSD to be a
neural deficit which“would not respond positively to cochlear implants.”
The Speech-Language team has defined and instituted three management
These patients were among many who led us to recommend that“auditory
protocols, based on the age of the child:
neuropathy”have an added indexed term“auditory dys-synchrony”to
Under Three Years of Age. The basic test battery consists of the prevent the conclusion that there was always neural damage that would
Rossetti Infant Toddler Language Scale (RITLS) or the Preschool Language not respond to implants in every patient (Berlin et al., 2000). Two and half
Scale-4 (PLS-4). The Developmental Observation Checklist System may also years following the implants, both were showing superior spoken
be administered to infants under six months of age. The choice depends language and continue to do so now. Both have been implanted
on the maturity of the child. A language sample is also completed. These bilaterally, educated now in regular schools and taught us that the
assessments allow the team to determine the child’s present level of transition from cued speech to cochlear implants can be a very smooth
language development. An analysis of the child’s phonetic inventory, the one. They are patients shared with, and reported by, Shallop et al. (2001)
Goldman-Fristoe - 2 Test of Articulation (GFTA -2) or Structured Photographic and exemplify the value of cued speech. It served as an excellent tool to
Articulation Test-Dudsberry II (SPAT-D II) are administered to determine the maintain normal linguistic, syntactic and phonologic development, while
child’s speech proficiency.
deciding whether or not to implant. Once the implant decision was made
Three-to-Six Years of Age. The test battery consists of the by the parents, segue into grammatical spoken language was seamless.
Preschool Language Scale (PLS-4), a language sample, and the Receptive One
CASE # 3. Patient implanted by 12 months of age, now needs no visual
Word Picture Vocabulary Test – R (ROWPVT-R if the child cannot complete
language support
the PLS-4. These assessments allow the team to determine the child’s
present level of language development. The Structured Photographic This child’s mother opted for pre-linguistic implantation when the child
Articulation Test-Dudsberry II (SPAT-D II), the Hodson Assessment of was 8 months of age, but the team’s approval allowed for her to be
Phonological Patterns - third edition (HAPP-3), or the Goldman-Fristoe - 2 implanted on the day after her first birthday. She had a second implant at
Test of Articulation (GFTA -2) are administered to determine speech 18 months and is mainstreamed in regular school. Her parents describe
production proficiency. her now as“indistinguishable from her normal hearing peers.” (video on
the web page).
Six Years and Older). For children who are of school age, the basic
test battery consists of subtests from the The Woodcock-Johnson III Tests of CASE # 4. This patient’s parents opted only for cued speech, no hearing
Cognitive Abilities (WJ-III ACH) that provide analysis of General Intellectual aids, no implants. Patient KA is 10 years old at the time of this taping and
Ability, Verbal Ability, and Thinking Ability; and the Woodcock-Johnson III in middle school. Her school, which has supplied a cued speech translator,
Tests of Achievement Abilities (WJ-III ACH) that provide analysis of Basic FM systems, classroom modifications for noise reduction, etc. describes her
Reading Ability, Oral Language (Std and Ext), Oral Expression, and as a virtually normal child with mild speech problems. Her parents describe
Listening Comprehension; the Structured Photographic Articulation Test- her as beginning to recognize that she has trouble hearing. We are
Dudsberry II (SPAT-D II) and a language sample analysis. strongly considering an implant but have trouble sacrificing her usable
Video examples which accompanied the narrative on some of these hearing. The family continues to consider cochlear implantation, but, as
patients, are available on our web page: http://csd.usf.edu (no www). long as her support through Cued Speech continues to help her grow both
educationally and linguistically, they do not plan any other interventions.
Patients Raised with Cued Speech followed by (a brief video on our web page shows her at ages 7 and 10).
Cochlear Implants. CASES # 1 AND2. Patient 1 and her brother both
have Otoferlin mutations (Varga et al., 2003). At the time of diagnosis in Summary. These ANSD children should be treated by a team of
1996, Otoferlin was not recognized and the children, who were first started specialists including speech-language pathologists, teachers of the deaf,
with cued speech, were subsequently enrolled in Auditory-Verbal schools otolaryngologists, pediatricians and neurologists and, where necessary,
with hearing aid to facilitate speech production. The hearing aids were occupational and physical therapists. About a third of these patients will
unsuccessful in helping the children learn spoken language. The children, have concomitant neurologic and motor problems; some will not need
who had superior receptive language relative to the other auditory-verbal intervention, and others will benefit from cochlear implants, as much, if

39
Management of Individuals with Auditory Neuropathy Spectrum Disorder

not more so than hearing aid benefits. We have 5 out of 95 patients in our for proper management of the ANSD patient are as follows:
data base who showed good results with hearing aids in both quiet and
1. Treat the child’s language and speech, and not the audiologic test
noise. However, the common 6-8 dB signal-to-noise ratios provided by
results acquired in quiet.
hearing aids in everyday life have not allowed the rest of them to
eavesdrop on language easily. Many of these patients, but not all, moved 2. Do not allow a mild-to-moderate, or even normal, audiogram to
on to cochlear implantation. Some ANSD patients stayed with visual disqualify the child from implant consideration if his/her language is
language support such as cued speech and used FMs to enhance the not developing normally.
signal-to-noise ratio; others chose not to use hearing aids because they
and their teachers and other professionals could observe no differences
between conditions when the hearing aid was used or not. Our mantras

40