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Recommended Procedure

Assessment and Management of


Auditory Neuropathy Spectrum
Disorder (ANSD) in Young Infants
Date: January 2019
Due for review: January 2024

OD104-85 (31/01/2019)
Recommended Procedure
Assessment and Management of Auditory Neuropathy
Spectrum Disorder (ANSD) in Young Infants
BSA
2019

General foreword

This document presents Practice Guidance by the British Society of Audiology (BSA). This Practice
Guidance represents, to the best knowledge of the BSA, the evidence-base and consensus on good
practice, given the stated methodology and scope of the document and at the time of publication.
Although care has been taken in preparing this information, the BSA does not and cannot guarantee the
interpretation and application of it. The BSA cannot be held responsible for any errors or omissions, and
the BSA accepts no liability whatsoever for any loss or damage howsoever arising. This document
supersedes any previous recommended procedure by the BSA and stands until superseded or
withdrawn by the BSA.

Comments on this document are welcomed and should be sent to:

British Society of Audiology


Blackburn House,
Redhouse Road
Seafield,
Bathgate
EH47 7AQ
Tel: +44 (0)118 9660622
bsa@thebsa.org.uk
www.thebsa.org.uk

Published by the British Society of Audiology

© British Society of Audiology, 2019

All rights reserved. This document may be freely reproduced for educational and not-for-profit purposes. No other
reproduction is allowed without the written permission of the British Society of Audiology.

2
Page

© BSA 2019
OD104-85 (31/01/2019)
Practice Guidance
Auditory Neuropathy Spectrum
Disorder (ANSD)
BSA
2018

Authors
Produced by: The Electrophysiology Special Interest Group (EPSIG) and the Professional
Guidance Group

Key Authors:
Constantina Georga Royal Berkshire Hospital
Dr Guy Lightfoot ERA Training & Consultancy Ltd

Declarations of interests
• Declaration of interests by the authors: ERA Training & Consultancy Ltd offer training courses in
ABR & CM testing, training and accreditation in ABR peer review and offer clinical support for
centres performing ABR testing.

With thanks to:


With thanks to others who made contributions to this and earlier versions, including Hannah Cooper,
John Fitzgerald, Jason Smalley, Rachel Feirn, Graham Sutton, Glynnis Parker, Tony Sirimanna, Sally
Wood, Linda Hood, Steve Mason, John Stevens Sally Minchom, Rhys Meredith, Siobhan Brennan, Rachel
Booth, Gwen Carr, Elizabeth Midgley and the late Judy Gravel.
The expert reviewers for their advice and guidance and to BSA members who provided feedback in the
membership consultation.
All of the feedback received in the membership consultation in particular.

Shared Decision-Making
It is implied throughout this document that the service user should be involved in shared decision-
making when undertaking audiological intervention, receiving subsequent information and
understanding how it will impact on the personalisation of care. Individual preferences should be taken
into account and the role of the clinician is to enable a person to make a meaningful and informed
choice. Audiological interventions bring a variety of information for both the clinician and the patient
which can be used for counselling and decision-making regarding technology and anticipated outcomes.

Citation
Please cite this document in the following format:

BRITISH SOCIETY OF AUDIOLOGY, (2019), Recommended Procedure


3

Assessment and Management of Auditory Neuropathy Spectrum Disorder (ANSD) in Young Infants
Page

[Online]. Available from: insert web link. [Accessed date]

© BSA 2019

OD104-85 (31/01/2019)
Contents

1. INTRODUCTION ........................................................................................................................ 7
2. BACKGROUND .......................................................................................................................... 7
2.1. Definitions and Terminology ..................................................................................... 7
2.2. Prevalence ................................................................................................................. 8
2.3. Risk Factors ............................................................................................................... 8
2.4. Aetiologies ................................................................................................................. 9
2.5. Sites of Lesion.......................................................................................................... 10
2.6. Natural History and Prognosis ................................................................................ 10
3. ASSESSMENT .......................................................................................................................... 11
3.1. Core Assessment ..................................................................................................... 11
i. ABR .......................................................................................................... 11
ii. Tests of Outer Hair Cell Function ............................................................ 12
iii. Tympanometry ....................................................................................... 12
iv. Bone Conduction Assessment ................................................................ 12
v. Stapedial reflexes .................................................................................... 12
3.2. Transient ANSD ....................................................................................................... 12
3.3. Order of Testing and Interpretation of Results ....................................................... 13
3.4. Report Writing…………..
4. MANAGEMENT ....................................................................................................................... 17
4.1. Information and Support ........................................................................................ 17
4.2. Ongoing Audiological Assessment .......................................................................... 18
4.3. Monitoring and Assessment of Communication Development .............................. 19
4.4. Intervention / Aids to Communication ................................................................. 19
i. Modes of Communication ...................................................................... 19
ii. Conventional Hearing Aids...................................................................... 20
iii. Radio Aids ............................................................................................... 21
iv. Cochlear Implants (CIs) ........................................................................... 21
4.5. Aetiological Investigations .................................................................................... 22
4.6. Management of Unilateral ANSD ............................................................................ 23
4.7. Management of Transient ANSD............................................................................ 23
5. REFERENCES ........................................................................................................................... 24

OD104-85 (31/01/2019)
6. Appendix A: What Constitutes an Abnormal ABR? ................................................................ 30
7. Appendix B: Delayed Maturation and the Timing of Repeat ABR Testing ............................. 32
8. Appendix C: Additional Tests ................................................................................................. 34
9. Appendix D: Medical Assessment .......................................................................................... 36
10. Appendix E: Case Scenarios .................................................................................................... 37
i. Case example 1:Delayed Maturation...................................................... 37
ii. Case example 2:Bilateral ANSD, Rehabilitated with Hearing Aids.......... 39
iii. Case example 3:Bilateral ANSD Rehabilitated with CIs .......................... 42
11. Appendix F: Document Revision History ................................................................................ 44

Abbreviations
ABR Auditory Brainstem Response

AC Air Conduction

ANSD Auditory Neuropathy Spectrum Disorder

BOA Behavioural Observation Audiometry

BC Bone Conduction

BSA British Society of Audiology

BSA British Society of Audiology

CAEP Cortical Auditory Evoked Potentials

CI Cochlear Implant

ckABR Click Auditory Brainstem Response

CM Cochlear Microphonic

dBeHL Decibel estimated Hearing Level (Estimated PTA from electrophysiological thresholds)

dBHL Decibel Hearing Level

dBnHL Decibel normal Hearing Level

eABR electrically evoked ABR

ECochG Electro-cochleography

OD104-85 (31/01/2019)
kHz Kilo Hertz

MCHAS Modernising Children’s Hearing Aid Service

NDCS National Deaf Children’s Society

NHSP Newborn Hearing Screening Programme

NICU Neonatal Intensive Care Unit

OAE Otoacoustic emission

SNHL Sensorineural Hearing Loss

SR Stapedius Reflex

ESIG Electrophysiology Special Interest Group

tpABR Tone Pip Auditory Brainstem Response

OD104-85 (31/01/2019)
1. INTRODUCTION
This document is a revision of the previous recommendations of the Newborn Hearing Screening
Programme (NHSP) in England for the assessment, diagnosis and management of infants suspected of
having Auditory Neuropathy Spectrum Disorder (ANSD). In more recent years these guidelines have
been adopted by the British Society of Audiology (BSA). The current document should be read in
conjunction with the BSA Recommended Procedure for Cochlear Microphonic Testing January 2019.

This document has been updated in the light of recent work and other published guidelines. Many
controversies and areas of uncertainty remain in the diagnosis and management of ANSD. These
guidelines will be subject to further revision in the light of new evidence in the future.

2. BACKGROUND
2.1. Definitions and Terminology
This document addresses the practical issues in the identification, assessment, diagnosis and
management of infants presenting with the following pattern of test results at the initial audiological
assessment after the newborn screen:

• Auditory Brainstem Response (ABR) absent or with grossly abnormal morphology at high
stimulus levels (Sininger 2002) (see Appendix A for further explanations), with
• Otoacoustic emissions (OAEs) and/or cochlear microphonic (CM) present.

These test results demonstrate the presence of pre-neural responses but absent or abnormal neural
responses. This suggests relatively normal activity in the outer hair cells, but disruption of transmission
at some point from the inner hair cells along the neural pathway to the brainstem. There are two
proposed disruption mechanisms. One is when the neural synchrony is compromised and the other is
when there is a reduction of the activated nerve fibres (Rance and Starr 2015).

Children with absent ABR, might at first sight be thought to have severe/profound sensorineural
(cochlear) hearing loss until tests of cochlear function are carried out. It is important to differentiate
between ANSD and ‘cochlear’ sensorineural loss or conductive hearing loss as prognosis and
management can be substantially different.

The term ‘Auditory Neuropathy’ was originally described by Starr and colleagues in 1996 (Starr et al
1996). Other workers have preferred terms such as ‘Auditory Dys-synchrony’ (Berlin et al. 2002),
‘Auditory De-synchrony’ or ‘Auditory mismatch’, ‘Peri-Synaptic Audiopathy’, ‘Persistent Outer Hair Cell
Function’, ‘Neural Hearing Loss’ feeling that these terms better attempt to describe what is happening in
the auditory system without implying a particular locus of pathology (Rapin et al. 2003). To encompass
these different opinions, the term ‘Auditory Neuropathy/Dys-synchrony (AN/AD)’ came into use and
was used in previous versions of the NHSP guidelines.

OD104-85 (31/01/2019)
At the International Guidelines Development Conference at Como, Italy, in 2008 (Northern Ed. 2008), a
consensus was reached to adopt the term ‘Auditory Neuropathy Spectrum Disorder’ (ANSD). This is a
blanket term to include various possible aetiologies described in a later section. The term ANSD was also
considered helpful as it expresses the wide range of presentations, prognoses and underlying aetiologies
associated with the disorder. However, the abbreviated term Auditory Neuropathy is still used by some.

2.2. Prevalence
Sininger (Sininger 2002) estimates that ANSD occurs in about 1 in 10 children with permanent hearing
loss. A large Australian study confirms this estimate (Ching et al. 2013).

Although the majority of ANSD cases occur among infants who have spent time in special care /
neonatal intensive care unit (NICU), some studies have indicated that a significant number may occur in
the well-baby population (Sininger 2002). Many newborn hearing screening programmes, including the
UK NHSP protocol, currently only screen for evidence of ANSD in infants admitted to NICU 1, and do not
offer ABR screening to all well babies. Cases of ANSD occurring in the well-baby population may
therefore remain undetected. Cases of ANSD may be referred at a later stage, likely due to parental or
professional concerns. Therefore, these referral routes should be maintained for audiological
assessment. The assessment and management of these older cases is outside the scope of this
document.

2.3. Risk Factors


Below are listed some of the perinatal factors that are associated with ANSD.
Risk factors for ANSD from the neonatal history include: (Sininger 2002, Berg et al. 2005, Madden et al.
2002, Rance et al. 1999, Berlin et al. 2010)
• Extreme prematurity <28 weeks gestation.
• Low birth weight / intrauterine growth restriction.
• Severe hyperbilirubinaemia otherwise known as kernicterus, at levels requiring exchange
transfusion.
• Hypoxic ischaemic encephalopathy / intraventricular haemorrhage (as is likely to occur in infants
with prolonged assisted ventilation / severe sepsis).
• Anoxia.
• Artificial ventilation.
• Respiratory distress.
• Ototoxic drugs.

1
In this document ‘SCBU/NICU’ means those infants classified as such by the NHSP screening protocol –i.e. those
who are admitted to special care / neonatal intensive care for over 48 hours.

OD104-85 (31/01/2019)
Due to the above, children with ANSD usually have a history of extensive neonatal intensive care unit
stay (Norrix et al. 2014).

2.4. Aetiologies
ANSD is a label for a pattern of test results as defined above. It is not a diagnosis and further
investigation is needed to ascertain this. It can also be transient (see sections 3.2, and Appendix B).
ANSD may arise from a diverse range of aetiologies. Both genetic and acquired factors can result in
ANSD. Genetic causes can be syndromic or nonsyndromic.

If a diagnosis of the underlying condition that gives rise to ANSD results is made it will be useful for the
management of the child to include the comment ‘ANSD pattern of subjective test results associated
with…’ alongside the diagnosis.

Genetic conditions that may give rise to this pattern of test results include, among others:
• DFNB9 gene mutations (autosomal recessive) (Varga et al. 2003), responsible for the coding of
the protein otoferlin (OTOF).
• DFNB59 gene mutations (autosomal recessive) (Delmaghani et al. 2006), responsible for the
coding of the protein pejvakin.
• DIAPH3 gene mutations, which is another protein coding gene, causing autosomal dominant
non syndromic auditory neuropathy or AUNA1 (Norrix et al. 2014).
• ATP1A3 gene mutations (Han et al. 2017). These mutations are linked with late onset ANSD.
• Familial delayed auditory maturation (Aldosari et al. 2004).
• Neurodegenerative conditions 2: Charcot Marie Tooth, Friedreich’s Ataxia (Starr et al. 1996).
• Metabolic conditions, e.g. Maple syrup urine disease (Spankovich et al. 2007).
• Mitochondrial disorders (Corley et al. 1999).
• OPA1 gene mutation, causing late-onset ANSD together with vision loss due to optic atrophy
(Huang et al., 2009; Santarelli et al., 2015)
• Riboflavin transporter deficiency gene mutations (RFVT2 & RFVT3), causing late-onset
sensorimotor neuropathy with ANSD (Menezes et al., 2016)

Some anatomical anomalies may also give rise to this pattern of test results. Management of such cases
is outside the scope of this document.
Examples include:
• Hydrocephalus 3 (Sininger 2002, Berg et al. 2005).

2
These conditions usually give a delayed onset presentation
3
Note that hydrocephalus may interfere with the recording of the ABR so presenting with wave I only.
ABR thresholds may improve after shunt insertion and it is therefore advisable to wait until after shunt
insertion before performing the ABR assessment.

OD104-85 (31/01/2019)
• Brainstem anomalies (Huang et al. 2010).
• Auditory nerve hypoplasia or aplasia (Buchman et al. 2006).
• Other anatomical brain anomalies, e.g. microcephaly, space-occupying lesions such as cerebellar
tumours.

2.5. Sites of Lesion


Some researchers have attempted to categorise ANSD according to whether the lesion is pre- or post-
synaptic or have tried to identify the structure affected. This holds promise in predicting outcomes and
individualising management. For example better outcomes are expected with pre-synaptic (e.g., OTOF,
hypoxia) than with post-synaptic disorders (e.g., kernicterus, OPA1, auditory nerve malformation) .
When this becomes routine clinical practice, it may make the term ANSD redundant. These lesions have
been categorised as follows (Rance and Starr 2015):
1. Presynaptic disorders affecting inner hair cells and ribbon synapses.
2. Postsynaptic disorders affecting unmyelinated auditory nerve dendrites.
3. Postsynaptic disorders affecting auditory ganglion cells and their myelinated axons and
dendrites.
4. Central neural pathway disorders affecting the auditory brainstem.

2.6. Natural History and Prognosis


The impact of ANSD on a child’s hearing ability varies amongst individuals and to a great extent is
unpredictable. The possible outcomes are listed below.
Electrophysiology outcomes:
• The ABR may not change or may recover totally or partially. On some occasions it can be
consistent with the behavioural threshold and has normal morphology (Psaromattis et al. 2006,
Attias and Raveh 2007).
• ABR is a poor predictor of speech discrimination ability (Rance, 2013)
• OAEs which are present at initial assessment may disappear over time, whether or not the child
is aided (Sininger 2002, Deltenre et al. 1999, Star et al. 2000).
• ABR thresholds can fluctuate with fever (Starr et al., 1998)
Behavioural assessment outcomes:
• Behavioural thresholds may remain stable, fluctuate, deteriorate or improve. If they fluctuate
they are usually consistent within a test session.
• Behavioural thresholds can fluctuate with fever (Marlin et al., 2010).
• In some cases, the behavioural thresholds may appear to be satisfactory, with age-appropriate
speech development, but the child may exhibit features consistent with auditory processing
difficulties (Starr et al. 1996) (Rance et al., 2012). There should be a local protocol for the
ongoing monitoring of such cases.
• Speech discrimination may be poorer than the behavioural audiogram would suggest (Rance,
2013).

OD104-85 (31/01/2019)
• Hearing aids may be of less benefit than the behavioural audiogram would suggest (Rance et al.,
2002).
• Temporal processing and frequency discrimination is poorer compared to individuals with
sensorineural loss and similar puretone audiogram results (Zeng et al., 2005).
Functional assessment outcomes:
• Speech discrimination may range from no difficulties to difficulties listening in noise to disrupted
speech discimination in quiet with difficulties ranging from mild to profound (Rance et al., 2007).
• Speech may develop normally or may be significantly delayed.

3. ASSESSMENT
3.1. Core Assessment
The assessment should include (refer to 3.3 and Figure 1 for interpretation and flow diagram of the
assessment):

i. ABR
In the NHSP early audiological assessment protocol (Stevens et al. 2013), 4kHz tpABR assessment will
usually be the first investigation for babies referred following the screen 4. Note that with babies born
prematurely, the initial ABR assessment should not be performed until the baby has reached 40 weeks
corrected age, to allow some time for neural maturation. Where there is no ABR response at the normal
maximum recommended stimulus levels 5, or a grossly abnormal response, investigations to differentiate
between ANSD and sensorineural hearing loss must be performed (see Appendix A for further notes on
abnormal ABR).

In an infant, abnormal or absent ABR may be due to:


• ‘Conventional’ hearing loss – sensorineural, conductive or mixed
• Transient ANSD, possibly due to delayed neural maturation
• ANSD due to other causes.

It is preferable that ANSD should be excluded before proceeding to hearing aids which are programmed
to a prescriptive formula on the basis of ABR results. However, see section 3.1.3 where clinical
judgement may be required. The ANSD test protocol should be followed as part of the assessment of
every suspected case of permanent hearing loss with absent/grossly abnormal ABR, whether or not

4
For well babies, current NHSP guidance is that it is acceptable to use TEOAEs as the first test. For
babies admitted to NICU > 48 hours, and any baby where there is suspicion of, or a possible risk factor
for, ANSD, ABR must be performed (Stevens, Sutton, Wood Eds. 2013).
5
Refer to the BSA-NHSP ‘Guidelines for early audiological assessment’ (Stevens et al. 2013) for
guidance on maximum recommended stimulus levels. Please note that this guidance is due to be
updated in 2019 under the BSA.

OD104-85 (31/01/2019)
there are known risk factors for ANSD. Refer to BSA-NHSP guidance for the specific tests
(www.thebsa.co.uk/resources).

ii. Tests of Outer Hair Cell Function

Diagnostic (NOT screening) OAEs– transient evoked (TEOAE) are recommended. OAEs are by-products
of the active amplification processes in the cochlea. The presence of OAEs is taken as evidence of outer
hair cell function.

Cochlear Microphonics: Cochlear microphonics are potentials that reflect the activity of both the outer
and inner hair cells. As, however, outer hair cells are considerably more numerous than inner hair cells
they are considered as the main contributors. Refer to the BSA-NHSP Guidelines for Cochlear
Microphonic Testing (BSA 2019) for details. In brief: perform click CM with separate replicated runs of
condensation and rarefaction click stimuli using insert earphones at 85 dBnHL, or, in cases of a grossly
abnormal ABR, at the maximum level at which the ckABR is absent, providing this is no less than 70
dBnHL (see 3.3 for further details). A CM is present when it inverts with click polarity and disappears
upon clamping the insert tubing. When a CM is present and there is still no later true neural ABR
response (i.e. not inverting with click polarity) at the same intensity level, this is taken as evidence of
ANSD.
iii. Tympanometry
A significant overlying conductive loss may prevent the CM from being detected. Even milder conductive
elements can cause OAEs to be absent. When abnormal tympanograms are present it is not possible to
exclude the possibility of ANSD; however, in cases where there is no other evidence for ANSD this
should not delay the management of the child’s hearing loss. High frequency tympanometry should be
carried out for babies under the age of 6 months.

iv. Bone Conduction Assessment


Bone conduction testing allows for the assessment of presence of conductive components.

v. Stapedial reflexes
Optionally include if possible stapedial reflexes (SRs) using 1kHz probe (Mazlan et al. 2009). Stapedial
reflexes appear to be invariably absent or elevated in cases of ANSD (Berlin et al. 2005).

3.2. Transient ANSD


A key issue with ANSD is distinguishing long-term ANSD from delayed maturation (or transient ANSD)
particularly in babies who have been in neonatal intensive care. To help differentiate neural maturation
changes from other causes of ANSD, whenever possible ABR should be repeated before a definitive
initial diagnosis is made; this should preferably be at around 8-10 weeks corrected age (i.e. usually
around 2 months after the first ABR). A further repeat ABR at a later age may be helpful in order to
confirm the diagnosis. If this is felt to be helpful for the management of the individual case, then a re-
test at around 12-18 months of age should be considered. For a discussion of the issues around this
decision, see Appendix B. For advice on management, see section 4.7.

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3.3. Order of Testing and Interpretation of Results
This section describes a recommended order of testing and interpretation of results. The order of testing
however may vary depending on practical considerations.

If 4kHz AC tpABR (see note 1 below) response is absent at the maximum permissible testing level (see
note 2 below) then (refer to Figure 1 for the flow chart of the assessment process):
• Perform a 4kHz tpABR with a bone conductor at the maximum permissible testing
level :
o If an ABR is obtained of normal morphology, then this points towards a
mixed hearing loss and ANSD is not indicated.
o If bone conduction ABR yields a response absent, then:
• Perform a tp air conduction ABR at a low frequency (either 0.5 or 1kHz) to maximum
permissible testing level.
o If this is present and of normal morphology: this pattern is most likely
associated with a sensorineural hearing loss (see Note 3 below).
o If low frequency tpABR is absent, then:
• Perform a ckABR at the maximum permissible testing level:
o If there is a normal morphology ABR this indicates a sensorineural hearing
loss.
If ckABR is absent, then:
• Perform a cochlear microphonic at 85dBnHL and/or an OAE.
o Studies show that a substantial proportion of patients with ANSD and
present CMs do not have recordable OAEs. This could be due to middle ear
conditions. It has also been demonstrated however that OAEs can disappear
over time, with the reasons as to why not being clear as yet. Therefore, all
children with absent OAE responses in the absence or grossly abnormal
appearance of an ABR at maximum stimulus levels should be tested for a
cochlear microphonic.
o If a robust diagnostic OAE has already been recorded, CM testing is not
essential although it may be useful to try and record both OAEs and CM, for
the following reasons:
i. CM appears to be more robust over time as mentioned above.
Therefore, when testing for signs of maturation, a CM may continue
to be recordable (and confirm the persistence of ANSD for
example), although an OAE may disappear over time.
ii. OAEs and CM may provide different perspectives of the
physiological processes of the cochlea and one does not guarantee
the presence of the other (Buchman et al. 2006). Having the
retrospective data of both recordings may help us investigate this
further in the future.
iii. Some clinicians believe it is possible to have features of both ANSD
and SNHL and this likelihood is greater when OAEs are absent and
CM present (Picton 2011).

OD104-85 (31/01/2019)
o If, in combination with the ABR results, a clear response on either the
cochlear microphonic or the OAEs are obtained, then this should be taken
as evidence of ANSD.
o The absence of OAEs and CM (with absent ckABR and no evidence of middle
ear effusion), does not categorically rule out ANSD, but when both are
absent it is reasonable to assume conventional hearing loss. There are
anecdotal reports that in some cases of ANSD the OAE and/or CM can “burn
out” with time.
o If both OAEs and CM are absent and there is evidence of middle ear
effusion, then ANSD cannot be ruled out and further assessment is
recommended. This is because both the cochlear microphonic and OAEs can
be affected by the presence of middle ear effusion.
o It may not be necessary to conduct both a ckABR and a CM test if the
patient does not have ANSD and the two tests do not have to be conducted
in a fixed order. For example, where CM is performed prior to ckABR and it
is absent (with absent OAEs), then there is no need to conduct the ckABR, as
this makes ANSD unlikely.
• If initial or subsequent assessments lead to ANSD, repetition of the assessment may
be necessary to rule out transient ANSD (refer to Appendix B for further guidance).

Note 1: Reference to 4kHz tpABR in this guidance should be read to include the use of 4kHz
narrow-band CE-chirps as an acceptable alternative stimulus. However, only tone pips (not
chirps) should be used at lower frequencies because the latencies of peaks for lower frequency
chirps makes the identification of an abnormal morphology ABR more difficult. The definite
decision regarding waveform abnormality should be based on the ckABR.

Note 2: Where the maximum recommended stimulus level with inserts fail to evoke an ABR, a
switch to supra-aural earphones is suggested for threshold determination. Using supra-aural
earphones the calibration uncertainty associated with neonatal ear canal volumes is not an
issue. Using headphones allows a higher stimulation level to be achieved which may evoke a
response to reveal a sensorineural hearing loss. Refer to the Early Assessment guidance for the
maximum recommended stimulus levels.

Note 3: A pattern of results has been reported where both 4kHz and the ckABR are absent and
with a present low frequency ABR at high stimulus levels and present CM. At this stage there is
no consensus as to how best to categorise or manage this pattern of results. There are
suggestions that it may be associated with a steeply sloping sensorineural hearing loss (Coates &
Martin, 1977), or that features of both ANSD and sensorineural hearing loss may be involved. It
is recommended that this pattern is treated as a sensorineural hearing loss, with close
monitoring for signs of poor speech processing.

OD104-85 (31/01/2019)
If ABR response is grossly abnormal (as described in Appendix A) at 4kHz or with clicks (see note
1 above), the following steps are suggested:
a) Determine the maximum level where ckABR yields a response absent.
b) If this level is ≥70 dBnHL then perform the CM at the level where ABR is
absent. If CM is present, then this should be taken as evidence of ANSD.
c) If this level is <70 then a CM can be performed, but may not be recordable
and its absence should prompt the tester to assess OAEs. If OAEs or CM are
present, then this should be taken as evidence of ANSD.
d) In any other situation, ANSD may or may not be present but cannot be
excluded with confidence. Other tests such as stapedial reflexes or
contralateral suppression of OAEs may help the differential diagnosis. It is
then advised to wait until 10 weeks corrected age, where a repeat
assessment should be carried out. If results remain the same, then the
ANSD label can be adopted for management purposes.

Note 4: Where a unilateral ANSD is suspected, effort should be made to rule out even a mild
hearing loss on the other side, by testing down to 20 dBeHL at both 4kHz and 1kHz. This is
because the effects of ANSD cannot be predicted, the child may need to rely heavily on the non-
ANSD ear for speech access. In this case, even a mild hearing loss or a reverse slope hearing loss
could have a significant effect.

3.4. Writing reports


The Quality Standards in Paediatric Audiology (2000) state that all letters relating to the child’s
assessment results, diagnostic opinions and agreed management plan, should be copied to parents
within 5 working days. Written clinic reports can also help parents with information retention, can raise
any misunderstandings or errors. Effective communication with families via report writing can promote
parental understanding and shared decision making. However below there are some points to consider
when writing a report of a child with ANSD.

• Information should reflect the consultation and results should be discussed with parents before
they are included in a report to avoid distress. Points to include in the report are tabulated in
section 4.1

• In cases of unilateral ANSD it may be necessary to clarify why in one side ABR results give an
estimation of the functional levels whereas on the ANSD side an absent ABR at maximum levels
does NOT mean there is a severe-profound hearing loss when OAEs and/or a CM are present.

• If a diagnosis of the underlying pathology has been made, report should state the diagnosis
along with a comment “…with ANSD pattern of subjective test results”.

OD104-85 (31/01/2019)
Fig 1. Schematic diagram of the assessment for ANSD

AC 4kHz tpABR

Up to max recommended Absent


Present1 level

BC 4kHz tpABR

Up to max available level


Present1
Repeat assessment for maturation5

Absent

AC 1 or 0.5 kHz tpABR


SNHL or Mixed Present1
Hearing Loss Up to max recommended
level

Absent

Present1 ckABR2 @ 85 dBnHL

with inserts

Absent

ANSD OAEs
Both OAE and CM4 absent and
Unless tymps peaked3 and/or
maturation Either OAE or CM present CM2 @ 85 dBnHL with
indicated
inserts

Notes:
1. ABR “present” means identifiable characteristic morphology with expected latencies. If ABR presents with
abnormal morphology, refer to section 3.3 for further guidance.
2. An alternative testing order would be to perform the CM prior to the ckABR.
3. If there is evidence of middle ear effusion, ANSD cannot be excluded.
4. The absence of OAE and CM does not categorically rule out ANSD, but when both are absent it is
reasonable to assume conventional hearing loss. There are anecdotal reports that in some cases of ANSD
the OAE and/or CM can “burn out” with time.
5. See Appendix B for advice on repeat assessments.

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4. MANAGEMENT
Sections 4.1 to 4.5 refer primarily to the management of bilateral ANSD. However, some of this guidance
will also be relevant to the management of unilateral ANSD. Section 4.6 refers to specific considerations
regarding unilateral ANSD.

The management of the child with ANSD requires a multidisciplinary team approach, working in
partnership with the family. Wesuggest the team should include a Paediatric Audiologist, a medical
professional (Audiological Physician, ENT consultant or Paediatrician), a Speech-Language Therapist, a
Teacher of the Deaf, and a Neurologist. The timing and the necessity of involvement of these
professionals will depend on the individual case and the wishes of the family. One member of the team
should be designated to take ultimate responsibility for the management of the case. All the members
should be familiar with and knowledgeable about the condition.

The management of ANSD presents great practical challenges, and the number of cases occurring in any
one geographical area is small. While it is entirely feasible for departments that perform ABR to carry
out CM and OAE testing and raise the initial suspicion of ANSD, we recommend that those with little or
no experience of these cases should seek advice from centres with high levels of expertise and more
experience, to obtain a firm diagnosis and start the management process. Such centres need to be able
to offer support and guidance in diagnosis and management, ensure that families get the best
information and advice, and build confidence in the local staff. In some cases, referral of the patient on
to such centres may be appropriate.

4.1. Information and Support


The lack of certainty around prognosis can make ANSD a particularly difficult diagnosis for parents and
families to deal with. In addition, many infants with ANSD will have other medical issues, meaning that
hearing may not initially present a high priority for parents (Uus et al. 2012).

The confusion that parents are likely to feel may have a negative impact on the relationship between
parents and professionals. Ongoing communication, support, encouragement, and information for
parents are critical to successful management. It is important to provide written information 6 regarding
the condition to families as well as to other professionals involved with the child, such as Health Visitors,
GPs and Paediatricians. ANSD should be described specifically, including what is known and not known
about the condition.

6
Helpful sources of written information may include the relevant NDCS booklets ‘ANSD-Information for
families’ and ‘ANSD To Parents from Parents’.

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Some families find it helpful to get in touch with other families that are in a similar situation. If this is not
possible locally, this option can be explored via the NDCS website which provides various platforms for
communications between families.

Hearing what ANSD sounds like may help parents’ understanding. A simulation of what a person with
various degrees of ANSD may be hearing has been created by Zeng et al. (1999) and can be found online.

During consultation with the family, it is helpful to cover the following points:

• The term ANSD is a label for a pattern of test results; it is not a label for a child.
• It is not immediately possible to predict the impact on the child or even the most successful
form of treatment. However, by pooling test results and observations from parents, audiologists
and other professionals will be able to do as much for the child as possible.
• An absent ABR does not necessarily imply a profound hearing loss.
• Close monitoring is required, as the child may not respond to sound in a typical way.
• Many children with ANSD are able to make good use of their hearing. However, the majority of
children with this pattern of test results do turn out to have hearing problems of some degree
which requires support and management.
• While the impact of ANSD on the child cannot be predicted at an early stage, establishing the
child’s early communication and language skills is important, and use of visual cues is advisable
until the child’s true hearing ability is known.

Families of children with ANSD should be offered referral for early support. Children with ANSD are at
risk for communication difficulties and need to be monitored accordingly. The overall goal is to begin
management as soon as the parents/carers feel ready to proceed (preferably by 6 months) and to
establish a communication method for use by the child and family, and put in place a plan for continuing
assessment of hearing and communication.

4.2. Ongoing Audiological Assessment


The audiological profile of children with ANSD may fluctuate. Therefore, ongoing and regular monitoring
of auditory status (behavioural, functional, electrophysiological and middle ear) and hearing, speech,
language and general development is required.

Audiological assessments should include:

Behavioural thresholds: in each ear determined by an developmentally appropriate method (VRA with
insert earphones, Play Audiometry, conventional Pure Tone Audiometry). These can be acquired from a
developmental age of around 6 months. Behavioural Observational Audiometry (BOA) and informal
observation can start at an earlier age. Any BOA should be carried out and interpreted with extreme
care (BSA-NHSP Guidelines).

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Some children may have complex medical and developmental factors which present a challenge for
behavioural testing. Such children must be assessed by suitably experienced and skilled professionals
and results should be viewed in the context of the child’s developmental status. If reliable results cannot
be obtained because of significant developmental delay, BOA and informal observation may be useful in
guiding management.

Electrophysiology: as discussed in Appendix C.

Tympanometry/Stapedial Reflexes: Monitoring of middle ear status is important as the presence of fluid
in the middle ear will affect other tests, and children with ANSD are as likely as any other to develop
middle ear effusion. This should be done in conjunction with other testing. SRs (using both tonal and
broad band stimuli) should also be measured.

Additional tests that may be appropriate in the ongoing assessment of children with ANSD are discussed
in Appendix C.

4.3. Monitoring and Assessment of Communication Development


Monitoring and assessment of language and communication development is the key determinant of
management options. Close monitoring of communicative and developmental progress by parents and
professionals together should be undertaken using the Early Support Monitoring Protocol for deaf
babies and children (2013) or other appropriate monitoring tools. In addition, regular standardised
assessments of language and communication should be undertaken by qualified Teachers of the Deaf
and specialist Speech and Language Therapists. The development of more sophisticated monitoring
tools would be helpful in the early monitoring and management of infants with ANSD.

Although specific questionnaires for ANSD have not been developed, existing questionnaires can be
used from the first few months. Some modifications may be required, for example sections that are
aimed to evaluate hearing aid usage. Examples of such questionnaires are:
• ELF: Early Listening Function
• IT-MAIS: Infant Toddler Meaningful Auditory Integration Scale
• CAP: Categories of Auditory Performance
• PEACH: Parent Evaluation of Aural/oral performance of Children
• LittlEARs auditory questionnaire.

4.4. Intervention / Aids to Communication


i. Modes of Communication
This should be determined by the needs and desires of the family, taking into account the observed
progress of the child. For most children with ANSD, use of a combination of communication systems that
incorporates visual support is appropriate (e.g. auditory/aural with lip-reading and natural gesture, total

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communication, sign language). On the other hand, an auditory-only approach (such as auditory-verbal
therapy) may not be successful.

Regardless of communication method, it is important that parents become proficient in the method and
use it regularly in the home. Such approaches can be put into place at an early stage, before behavioural
thresholds and the child’s ‘true’ hearing ability are known, in order to lay the foundations of
communication and language development.

ii. Conventional Hearing Aids


There is increasing evidence that a substantial number of children with ANSD derive benefit from
hearing aid fitting if there is a significant behavioural hearing loss (Ching et al., 2013). About 50% of the
children in one study gained significant benefit (Rance et al. 1999), although this is variable with some
clinics reporting much lower success rates (Berlin et al. 2010) and some much higher. Therefore, a trial
of amplification should be undertaken. However, due to doubt as to the benefit in children where
behavioural thresholds are near-normal, the recommendation is to aid a child whose behavioural
thresholds are reliably elevated. A number of other considerations and complications apply – for
further details and discussion please see reference (Northern Ed. 2008).

The decision on whether to aid should be based on behavioural results, cortical auditory evoked
potentials (CAEP) results where available and observations from families and early interventionists
regarding the child’s responses to sound and early communication development. If reliable behavioural
hearing thresholds are not yet available and there is significant concern from the family and early
interventionist, hearing aid fitting can begin based on these concerns and behavioural observation
audiometry (unaided and aided) in the test situation.

Where CAEP measurements are utilised, refer to the Australian protocol on how these measurements
can be incorporated into the fitting protocol (Punch et al. 2016).

The fitting of hearing aids to children with ANSD should be based on a prescriptive method specifically
developed for infants and young children (MCHAS 2003) (e.g. DSL). The behavioural thresholds (not ABR
/ electrophysiological thresholds) should be used to establish amplification targets. In order to provide
the best chance of benefit, it is important that optimal audibility of speech sounds above threshold is
achieved. Therefore, provided reliable behavioural thresholds are available, aids should be fitted to
target based on these thresholds, rather than adopting a ‘conservative’ approach. 7

7
If behavioural thresholds fluctuate from test to test, the lowest thresholds obtained should be used, to
avoid risk of over-amplification.

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Where there is a lack of reliable behavioural thresholds on which to base the prescription, a
conservative approach should be adopted, beginning with low hearing aid gain and increasing the gain
gradually if no responses from the child are observed.

Hearing aid benefit should be determined. Benefit is determined primarily based on the development of
speech perception skills, not on aided detection thresholds. Monitoring of the child’s hearing aid fitting
is essential – refer to the appropriate MCHAS guidelines (2003).

Conventional fitting formulae have been developed mainly for individuals with sensorineural hearing
loss. Individuals with ANSD have poorer temporal processing and reduced frequency discrimination
especially at the lower frequencies. Therefore, their amplification needs may be different. Modified
amplification using low frequency cut or reduction (Prashanth et al. 2017) or enhancement of temporal
and spectral cues (Name and Vanaja 2012) and transposition of low frequencies to high have been
proposed. There is no clear evidence at this stage however, whether any of these strategies have
positive effects on speech intelligibility.

iii. Radio Aids


Radio aids (with or without personal hearing aids) may be beneficial for children with ANSD who have
residual speech recognition in quiet but experience difficulty in noise (Hood et al. 2004). A trial with a
radio aid should be considered as part of the hearing aid fitting process, particularly when the child is
involved in a day care or educational setting in which poor acoustic conditions restrict access to spoken
language.

iv. Cochlear Implants (CIs)


The literature has shown increasing numbers of children with ANSD who benefit from cochlear implants
(Berlin et al. 2004, Northern Ed. 2008, Berlin et al. 2010, Shallop et al. 2001, (Ching, Day et al., 2013)),
and this option should be considered when behavioural responses indicate the child is behaving like a
child with a severe/profound hearing loss, and/or when the child is not making progress with hearing
aids (i.e. they show no or very limited speech discrimination abilities). A trial of conventional
amplification is important prior to cochlear implantation (this is an area where more research is
needed). Behavioural pure tone thresholds are not a good guide to determine CI candidacy. Children
with ANSD who have even relatively mild hearing losses on behavioural testing may be CI candidates if
they do not show good progress with other interventions.

Infants identified with ANSD can be referred to a cochlear implant centre for assessment as soon as
there are significant concerns about behavioural responses to sound and/or
communication/speech/language development. It is not appropriate to refer infants with ANSD for
cochlear implantation based purely on ABR results, and generally behavioural measures will need to
have been obtained. Some cochlear implant centres however, would encourage early contact to initiate
communication for advice and input. In view of the reports of significant improvement in auditory
function in some infants with ANSD over time, the final decision to implant should not be made until
audiological test results are stable and demonstrate unequivocal evidence of permanent ANSD

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(Northern Ed. 2008). However, these tests can be carried out as part of the CI assessment to avoid
delays. The exception to this is where there is a strong suspicion of a genetic cause for the ANSD known
to be associated with profound deafness and good CI outcome (e.g. OTOF mutation); such cases can be
referred and implanted in a similar timescale to infants with profound typical cochlear hearing loss.
There is limited evidence that ATP1A3 mutations associated with late onset ANSD is also linked with
good CI outcomes (Han et al. 2017).

Refer to Appendix C on how CAEP testing may help identify ANSD patients that may benefit from CIs.

Local centres should be able to discuss cases of ANSD with the CI team, and it is important that the CI
team are able to accept referrals on the basis of assessment and advice, rather than on the assumption
that they will be candidates for surgery. The approach and timescale for assessing such cases will be
different from that for cases of conventional SNHL (except in the event of a known genetic cause as
defined above), and assessment for possible delayed maturation must be carried out as part of the
process of CI assessment. It is important to make clear to parents and involved professionals that the
referral at this stage is for assessment and that it is not yet clear whether the child will turn out to be a
candidate for implantation. Responsibility for the ongoing monitoring of hearing and communication
development, with appropriate modification of management strategies, also needs to be clearly agreed
between the CI team and the local service.

Guidelines for cochlear implant assessment of children with ANSD in the UK have been developed by the
British Cochlear Implant Group (Ambler et al. 2013). Cochlear implant funding bodies in the UK have also
reviewed their candidacy criteria for patients with ANSD (NHS England (2014)
http://www.bcig.org.uk/wp-content/uploads/2010/10/SSC1442_ANSD.pdf).

In a large cohort study conducted in Australia (Ching et al. 2013), 451 children diagnosed with a
permanent childhood hearing impairment (of which 44 had ANSD) were managed according to their
national protocols. Results suggested that a delay in cochlear implantation had a significant effect in
global outcomes (speech and language, functional and social measurements). This effect was not
apparent for hearing aids. It is noted that all children had received amplification before the age of 3
years. Results likely suggest that the length of auditory deprivation is detrimental for speech and social
outcomes in children with ANSD, who are candidates for cochlear implants.

However, the challenge for interventionist is how to identify the cases that are likely to benefit from CIs
sooner and how to rule out transient ANSD prior to CI implantation. Gardon et al. (2013) found that a
sensitive period for intervention for children with ANSD that receive CIs is around 2 years.

4.5. Aetiological Investigations


Ongoing medical (and neurological assessment if warranted s essential. Some infants may already have
an established neurological diagnosis. In others, ANSD identified by newborn hearing screening may be
the first indicator of an underlying neurological condition. It is therefore recommended that all children

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who are diagnosed with ANSD are assessed and investigated by an appropriately skilled and experienced
Audiovestibular Physician, Paediatrician or Paediatric Neurologist. There are separate guidelines
underway, that can provide more information regarding the aetiological investigation of children with
ANSD (BAAP 2018). Key elements that should be included in the assessment are listed in Appendix D.
Also refer to section 2.4 for possible aetiologies for ANSD.

Diagnosis of the underlying aetiology may determine the most appropriate further management,
including specific intervention if indicated. In some children however the underlying aetiology may
remain unidentified.

4.6. Management of Unilateral ANSD


a) Neonatal tests indicating unilateral ANSD with SNHL in the contralateral ear
Cases where the contralateral ear has a severe/profound hearing loss (i.e. absent/grossly abnormal ABR
with no evidence of outer hair cell function) should be managed with caution, as it is possible that they
may in fact be cases of bilateral ANSD. Aiding of the “non-ANSD” ear is advised, but decisions about
cochlear implantation of either ear should not be made until there is unequivocal evidence of
permanent profound hearing loss or ANSD on behavioural testing. The above refer to cases where there
is no evidence of middle ear effusion as this would complicate the picture.

b) Unilateral ANSD with normal hearing in the contralateral ear


There is little consensus about the management of unilateral ANSD in young infants. The effects of
unilateral SNHL are fairly well understood, but the impact on speech/language and educational progress
varies between individuals. The effects of unilateral ANSD are less well understood. As discussed above,
monitoring of hearing, communication and speech/language development are important.

Children with unilateral ANSD should also receive a medical referral for aetiological investigation. There
is high prevalence of cochlear nerve deformities in patients with unilateral ANSD (Mohammadi et al.
2015) although not all cases will present with an ANSD phenotype (Buchman et al. 2006). In a study of
17 infants with unilateral ANSD, 59% were found to have cochlear nerve aplasia. In about 17% of those,
the condition was missed with a CT and confirmed with MRI imaging. It is therefore advised that an MRI
should be the first line of imaging investigation for children with unilateral ANSD. A definite diagnosis of
nerve hypoplasia/aplasia can inform management for the individual. Cases of cochlear nerve deficiency
are expected to have poorer outcomes following cochlear implantation. For those diagnosed with nerve
aplasia however, both cochlear implant or brainstem implant options can be investigated, as the
condition is not necessarily associated with complete loss of nerve fibers.

4.7. Management of Transient ANSD


Children with transient ANSD should be monitored for their communication development at least until
they reach school age (Uus K 2017). We recommend that the monitoring occurs annually by the
Audiologist if there are no concerns.

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Varga R, Kelley PM, Keats BJ, Starr A, Leal SM, Cohn E, Kimberling WJ (2003). Non-syndromic
recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene. Journal of
Medical Genetics. 40: 45-50
Zeng FG,Oba S,Garde S, Sininger Y, Starr A, (1999). Temporal and speech processing deficits in
auditory neuropathy. NeuroReport 10(16):3429–3435
Zeng F., Kong Y., Michalewski H.J. & Starr A. (2005). Perceptual Consequences of Disrupted Auditory
Nerve Activity. J Neurophysiol, 93, 3050-3063.

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Additional reading:
Sininger YS, Starr A, (Eds). (2001) Auditory Neuropathy: A New Perspective on Hearing Disorders. Singular
Thompson Learning; San Diego.
Berlin CI, Morlet T, Hood LJ (2003) Auditory neuropathy / dys-synchrony. Its diagnosis and management.
Pediatr clin N Am, 331-340
Franck KH, Rainey MS et al (2002). Developing a multidisciplinary clinical protocol to manage pediatric
patients with Auditory Neuropathy. Seminars in Hearing, Vol. 23(3), 225-237.
Rance G (2005). Auditory neuropathy/Dys-synchrony and its Perceptual Consequences. Trends in
Amplification 9, 1-43.
King AM, Purdy SC, Dillon H, Sharma M, Pearce W (2005). Australian Hearing protocols for the
audiological management of infants who have auditory neuropathy. The Australian and New Zealand
Journal of Audiology. 27(1), 69-77
Guidelines for the identification and management of infants and young children with Auditory
Neropathy Spectrum Disorder available at:
https://www.childrenscolorado.org/globalassets/departments/ear-nose-throat/ansd-monograph.pdf
(last accessed Dec 2017)

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6. Appendix A: What Constitutes an Abnormal ABR?

There is a lack of consensus about the definition of “severely abnormal ABR morphology” and different
practices exist. We suggest that the following: Abnormal ABR at or above 75dBeHL applies to click or
tone pip ABRs and does not include waveforms having a waveform morphology that is typically
consistent with elevated hearing thresholds. Rather, an abnormal waveform is one with grossly
abnormal morphology (for example no wave V in the presence of wave I or wave III), latencies or
amplitudes likely to be seen in cases of ANSD or neurological dysfunction.

In some cases of grossly abnormal ABR, early components may be recognisable, but no clear wave V at
the expected latency, as in Fig 2. Furthermore, any ABR components that do not change in latency with
stimulus level changes should be considered abnormal (Berlin et al. 2010).

Fig 2 Example of a grossly abnormal ABR, which eventually matured to normal morphology at 11 weeks
(corrected age). A possible small wave V can be seen around 8ms.

Below there is another example of a grossly abnormal ABR with an earlier and a later (possibly neural)
component. Both components disappear with clamped insert earphone tube.

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Fig 3 Example of a grossly abnormal ABR with an earlier and a later component but no clear wave V at the
expected latency. “BSR”: a blocked stimulus run where the insert tube was clamped.

Occasionally, babies may present with more moderately raised ABR thresholds (of normal morphology)
and TEOAEs present. Our current advice is that such cases should not be labelled as ANSD and that an
expert paediatric audiology centre should be consulted.

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7. Appendix B: Delayed Maturation and the Timing of Repeat ABR
Testing
For babies in whom their initial ABR/CM tests were performed at a corrected age of up to 6 weeks, it is
recommended that the ABR is repeated at a corrected age of 8-10 weeks. We suggest that a re-test
should be considered at 12-18 months of age. However, the decision whether or not to carry out this re-
test should depend on the circumstances of the individual case. The practical difficulties of performing
an ABR at this age are also recognised. In making this decision, the following factors need to be
considered:

i) Age of maturation of ABR


Anecdotally, any maturation of the ABR occurs by around 18 months of age, but there appear to be few
reported studies in the literature. Attias & Raveh (2007) reported 5 cases of high risk neonates being
considered for cochlear implantation who showed full or partial recovery of the ABR on re-test 7-12
months after diagnosis. Madden et al (2002) reported improved behavioural thresholds 1-15 months
after diagnosis, with a stable audiogram reached by 11-25 months, in 9 out of 18 infants, but do not
report whether any changes in ABR were seen. Psaromattis et al. (2006) reported recovery of the ABR
after 4-6 months in 12 out of 20 NICU babies diagnosed with ANSD although limitations of this study
include no defined lower age limit for conducting ABR, lack of bone conduction testing and lack of CM
testing.

ii) Practicalities of testing


ABR testing under natural sleep is often difficult to achieve in this older age group, and sedation may
well be required. However, co-morbidities in many of these children may mean that sedation is contra-
indicated. Sometimes the child may be undergoing sedation or anaesthesia for treatment of some other
condition, and it may be possible to arrange to repeat the ABR at the same time.

iii) Parent counselling


Experience has shown that careful counselling of parents around the repeating of ABR tests is needed.
As noted above, sleep can be difficult to achieve and the re-test session may prove to be a long and
difficult one for parent and child. In the case of a child who is showing good behavioural responses to
sound, it can be very discouraging to a parent if the repeat ABR still shows an abnormal response. It is
important that parents understand that active monitoring of the child’s behavioural responses and
speech & language development is the key factor in determining their ongoing management and
outcome. It helps if these issues have been discussed with parents to prepare them for the different
possible outcomes of the re-test before this is carried out.

iv) Patient management


The practical issues outlined above need to be weighed up against the likely usefulness of the repeat
ABR result in management of the patient. For example, if the child at this age is showing convincing and
reliable behavioural responses consistent with a severe/profound hearing loss, and poor speech &

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language development, then active audiological management (including consideration of CI referral) is
clearly indicated and a further abnormal ABR test may not add to the picture. Conversely, if the child is
showing good behavioural responses and good speech & language development, whilst it would be
informative and encouraging to demonstrate an improved ABR, ongoing follow-up and monitoring of
the child’s speech & language development would still be recommended until more subtle auditory
processing difficulties have been ruled out. However, ongoing use of the ANSD label in these cases may
not be helpful.

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8. Appendix C: Additional Tests

The following tests may be valuable in the ongoing assessment of infants and children with ANSD.

a) Speech discrimination testing


This should be attempted at as young an age as possible, including testing in noise. In addition to testing
in the clinic, speech discrimination ability should also be evaluated in the child’s natural environment
(e.g. home, nursery) – this may be done in conjunction with education and/or speech-language therapy
colleagues. Further work is needed on developing age-appropriate tools that are sophisticated enough
to look in sufficient detail at early speech/language/communication development in order to inform the
management of young infants with ANSD.

b) Advanced electrophysiological techniques


i) Electrocochleography (ECochG) and Electrically-Evoked ABR (eABR)
Recent studies have indicated that these tests may have a role in narrowing down site of lesion and
helping predict cochlear implant outcome (McMahon et al. 2008). Studies using trans-tympanic
electrocochleography have identified two abnormal potentials in some ANSD patients: an “abnormal
positive potential” (enlarged summating potential) which has been interpreted as indicating a pre-
synaptic disorder and may give a good CI prognosis, and a “dendritic potential” which has been
interpreted as indicating a post-synaptic disorder and therefore likely to indicate poorer CI outcome.
There is some contradicting evidence on whether cases with normal eABR are associated with better
outcomes following implantation, than those cases with an abnormal eABR. Furthermore, these are
invasive techniques which are still at a research stage and further work is needed.

ii) Cortical Auditory Evoked Potentials (CAEPs)


There is emerging evidence (Rance et al. 2002, Cone-Wesson 2004, Sharma et al. 2011, Cardon &
Sharma 2011) that the presence or absence of auditory cortical responses in patients with ANSD might
provide an insight into the degree of an individual’s dys-synchrony and whether hearing aids are likely to
be helpful. The mechanism of this is unclear. Sharma and colleagues (Sharma et al. 2011, Cardon &
Sharma 2011) suggest abnormal, or dys-synchronous, patterns of sub-cortical transmission, which occur
in children with more disabling degrees of ANSD, have the potential to disrupt normal cortical
development and it is this abnormal cortical development that explains the failure to evoke cortical
responses. An alternative basis for the lack of recordable cortical responses in some patients with ANSD
has been proposed by Neary & Lightfoot (2012): it requires only a modest degree of temporal dys-
synchrony to “smear” the relatively short latency responses of the ABR but it takes a correspondingly
greater degree of dys-synchrony to abolish the longer latency cortical response. So, if both the ABR and
CAEPs are absent then it is reasonable to conclude the dys-synchrony is profound and the prognosis
with amplification may be poor. However, caution should be exerted interpreting the absence of CAEPs.
As it has been suggested that even when the stimulus is audible CAEPs are increasingly detectable with
increasing sensation level and their detectability lies in the region of 70% (Van Dun 2012). If the ABR is
absent but cortical responses are present the degree of dys-synchrony is likely to be modest and

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therefore the prognosis for amplification is better. However, the latency of the response is likely to be
significant as well. Sharma et al. (2013) found that the P1 latency was an indicator of the maturation of
central auditory pathway and correlates well with outcomes. The delay of the latency prior to
intervention and the improvement of the latency following intervention were both used to guide
management.

Thus, cortical testing may have potential in informing patient management and could guide the
expectations of patients or their parents. In Australia, a protocol has been devised that incorporates
CAEPs into the management of infants with hearing loss (Punch et al. 2016).

iii) Contralateral OAE suppression


It measures the reduction in the OAE signal that occurs when a masker is presented contralateraly. It
provides an assessment of the efferent pathway from the medial olivocochlear system to the outer hair
cells. It can be abnormal in ANSD.

iv) Acoustic Change Complex (ACC)


ACC is an auditory event-related potential that can provide evidence of discrimination capacity. It can
sometimes be recorded from individuals with ANSD despite the absent or abnormal ABR to assess
temporal processing and is elicited by stimulus changes. It is a promising test in predicting speech
perception performance in patients with ANSD and thus identifying individuals that require additional
support (He et al. 2015).

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9. Appendix D: Medical Assessment

Key elements in the assessment of infants identified with ANSD should include:

• CMV testing.
• Detailed history, including family history, neonatal factors e.g. gestation, hypoxia, assisted
ventilation, hyperbilirubinaemia, intraventricular haemorrhage, hydrocephalus, convulsions.
• Examination, particularly focused on neurological and developmental assessment.
• Imaging – MRI brain and internal auditory meati to assess integrity of the VIIIth and VIIth nerves
(refer to section 4.6 for unilateral ANSD).
• Ophthalmology assessment – particularly looking for evidence of visual cortical dysfunction,
optic disc pathology.
• Peripheral nerve conduction studies –if generalized neuropathy suspected.
• Referral to a geneticist, particularly if a neurodegenerative condition is suspected. It has become
possible recently to test for OTOF in the UK.
• Genetic sequencing:
• Metabolic studies as indicated by relevant clinical features – e.g. urine amino acids.
• Vestibular assessments as vestibular function can be abnormal in individuals with auditory
neuropathy.

Acquired ANSD is particularly associated with a neurodegenerative or metabolic aetiology and these
children especially require detailed neurological assessment and investigation. Neurodevelopmental
history, speech and language development, and neurological abnormalities should be noted in detail.

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10. Appendix E: Case Scenarios

i. Case example 1:Delayed Maturation


History summary:
Born at 26 weeks gestation.
Prolonged assisted ventilation; treatment for repeated episodes of sepsis; phototherapy for jaundice.
Home at 5 months on ambulatory oxygen.

Screen: NICU protocol


TEOAE: CR R&L AABR: NCR R&L

Initial Audiological Assessment:


8 weeks corrected age, shortly after discharge home. Parents unsure about responses to sound.

(R) ear:
4kHz tpABR: no response (RA) at 85 dBeHL
1kHz tpABR: no response (RA) at 100 dBeHL
Switched to ckABR using inserts: no response (RA) at 85 dBeHL.
CM recorded at same level.

(L) ear:
Started with ckABR in view of result obtained on (R) and screen result on (L).
1kHz tpABR recorded to check for low frequency response: No response (RA) at 100 dBeHL
No response (RA) to click at 85 dBeHL
CM recorded at same level.

No obvious behavioural responses observed.

Interpretation
• History: high risk for SNHL and ANSD
• ANSD pattern R&L
• Delayed maturation a possibility, though baby is now post-term.
Management
• Results discussed with parents, including explanation of ANSD and unpredictable outcome.
• Referral to ToD agreed. Encouraged visual input and close monitoring.
• For repeat ABR 8 weeks later, in view of possibility of delayed maturation.
• Results discussed with neonatal paediatrician.

Repeat ABR: 16 weeks Corrected age


TEOAE: present R&L

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Started ABR with click in view of previous lack of response. Click ABR: repeatable responses present
down to 60 dBeHL R&L though delayed waveforms.
4kHz tpABR: repeatable responses present down to 60 dBeHL though delayed waveforms.
BC 4kHz tpABR: no convincing response at 60 dBeHL.
High frequency tymps: normal R&L

Interpretation
• Some signs of maturation; need to continue monitoring.
Management
• Results discussed with parents: signs of improvement; still difficult to predict outcome
• Continue ToD support, visual support for communication, and monitoring
• Review in Audiology for behavioural testing.

Audiology review: 7 months corrected age (i.e. 10 months chronological age)


Seems to respond well to sound at home; babbling tunefully; good physical development – just sitting
unsupported.
Conditioned well for insert VRA:

Minimal response level (dBHL)


Frequency (kHz) 0.5 1 2 4
(L) ear 30 30 N/T 25
(R) ear 30 25 20 30
Tymps: peaked R&L

Interpretation
• Satisfactory VRA responses for developmental age. In view of previous results, need to monitor
to ensure good receptive & expressive speech & language development.
Management
• Discussed with parents: encouraging results; responding well to sound; too young to be sure
how useful hearing is for speech
• Continued support & monitoring by ToD

Audiology review 6 months later


Seems to hear well at home; responds to quiet sounds.
Producing several recognisable words with meaning.
Insert VRA: Minimal response levels at ≤ 20 dBHL R&L at 0.5, 1, 2 & 4 kHz

Ongoing reviews
Repeat ABR successfully obtained under natural sleep at 21 months:
4kHz tpABR: CR R&L ≤ 20 dBeHL with normal waveform morphology (unable to attempt 1kHz recording
as child woke up)

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Hearing and speech development monitored at least annually until aged 6 years
Age-appropriate speech and language development.

Interpretation
• Was ‘transient’ ANSD due to delayed maturation. ‘ANSD’ label no longer appropriate.
Management
• Discharged at 6 years of age after successful start at school. Advised to re-refer if any concerns.

ii. Case example 2:Bilateral ANSD, Rehabilitated with Hearing Aids


History summary:
Born at term by emergency caesarean section due to reduced foetal movements.
Required intensive resuscitation, followed by assisted ventilation for 5 days.
Developed neonatal convulsions. Cranial ultrasound and MRI demonstrated cortical changes consistent
with hypoxic ischaemic encephalopathy.
Home at 6 weeks.

Screen: NICU protocol


TEOAE: CR (R), NCR (L) AABR: NCR R&L
Initial Audiological Assessment: Aged 6½ weeks
Parents feel baby sometimes responds to loud sounds.

(R) ear:
4kHz tpABR: no response (RA) at 85 dBeHL
1kHz tpABR attempted to check for low frequency response: no response (RA) at 100 dBeHL
Switched to ckABR using inserts: no response (RA) at 85 dBeHL.
Cochlear microphonic recorded at same level.

(L) ear:
4kHz tpABR: no response (RA) at 85 dBeHL
No reponse (RA) to click at 85 dBeHL
Woke before 1kHz tpABR and CM recording could be attempted.
Clear TEOAE recorded.

No obvious behavioural responses observed.

Interpretation
• History: high risk for SNHL and ANSD
• ANSD pattern R&L
• Term baby, tested at 6 weeks, so delayed maturation less likely, but wise to repeat ABR to
confirm initial diagnosis.

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Management
• Results discussed with parents, including explanation of ANSD and unpredictable outcome.
• ToD referral offered but parents prefer to wait for now. Encouraged use of visual as well as
auditory stimulation.
• For repeat ABR in 6 weeks
• Neonatal paediatrician informed of results.

Repeat ABR: 12 weeks


Clear TEOAEs recorded R&L
Started with ckABR (inserts) in view of previous results. No repeatable response R or L at 85 dBeHL
Baby still sleeping, so CMs recorded R&L.
High frequency tymps: normal R&L

Interpretation
• Bilateral ANSD with no indication of maturation so far.
Management
• Discussed results with parents and re-iterated importance of support for early communication
as it will be some time before we have an indication of true hearing ability
• Parents agreed to ToD referral
• For regular support & monitoring by ToD, with feedback to Audiology. Audiology review for
behavioural testing.

Audiology review: 7 months


Parents & ToD feel child responds to some louder sounds at home, but little response seen to voices or
quieter toys. Some vocalisations but no real babble. Some developmental delay – not yet sitting
unsupported.

Unable to successfully condition to VRA. Repeatable responses obtained on a combination of


behavioural observation audiometry & distraction testing, as follows:

MRL to soundfield warble tones (dBA)


Frequency (kHz) 0.5 1 2 4
Presented on (L) 70 80 85 85
Presented on (R) 70 75 80 80
Responded to voice at 60-70 dBA; no response to ‘s’ or high frequency rattle at 60 dBA. Tymps: mobile
R&L.

Interpretation
• Behavioural responses and parent/ToD observations consistent with moderate/severe hearing
loss, though responses recorded may not yet be quite threshold
Management

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• Discussed with parents. Agreed to trial hearing aids
• Aids fitted programmed to behavioural responses, slightly conservatively initially in view of lack
of precision over thresholds and lack of ear-specific information. Alerted to sound with aids, but
no sign of loudness discomfort when checked with loud sounds.

Audiology review 6 weeks later


Conditioned to insert VRA using earmoulds:

Minimal response level (dBHL)


Frequency (kHz) 0.5 1 2 4
(L) ear 60 60 N/T 70
(R) ear 65 60 70 70
BC 40 60 70 70
Aids re-programmed to these results – now fitted accurately to target.

Ongoing reviews: every 3 months over next year


Insert VRA thresholds confirmed on subsequent tests – similar to above, with some variation between
assessments.
Parents report good responses to voice with aids. Wearing aids consistently.
Continued support from ToD and Speech & Language Therapist; signing introduced.
Child diagnosed with mild cerebral palsy – under care of paediatric neurologist.
Speech and language development delayed but showing steady progress.

At 2 years
Child had GA for orthopaedic procedure – opportunity used to repeat ABR.
No response R or L to 1 and 4kHz tp or ckABR at 85 dBeHL.
CMs recorded R&L at 85 dBeHL

Interpretation
• Bilateral ANSD confirmed.
• Moderate-to-severe loss on behavioural testing.
• Making good progress with hearing aids.
Management
• Continue with aids and ongoing monitoring.

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iii. Case example 3:Bilateral ANSD Rehabilitated with CIs
History summary:
Born at 35 weeks gestation. Admitted to NICU for 10 days for temperature maintenance and to
establish feeding.
Discharged home well. Discharged from further follow-up by neonatal paediatricians after first
outpatient review.
1st child. No family history of deafness.

Screen: NICU protocol


TEOAE: NCR R&L AABR: NCR R&L

Initial Audiological Assessment:


0 weeks corrected age. Parents concerned about lack of response to sound at home.
Clear TEOAE recorded R&L.
ABR carried out as baby was in NICU > 48 hours:

(L) ear:
4kHz tpABR: no response (RA) at 85 dBeHL
1kHz tpABR: no response (RA) at 100dBeHL
Switched to ckABR: no response (RA) at 85 dBeHL.
CM recorded at the same level

(R) ear:
4kHz tpABR: no response (RA) at 85 dBeHL
1kHz tpABR recorded to check for low frequency response: no reponse (RA) at 100 dBeHL
Switched to ckABR: no response at 85 dBeHL.
CM recorded at same level.

No obvious behavioural responses observed.

Interpretation
• History: slightly premature and in NICU > 48 hours, but no major risk factors for ANSD
• ANSD pattern R&L
• Delayed maturation a possibility – baby only just term – though was only 5 weeks premature.
Management
• Results discussed with parents – fits with their concerns at home. Explained unpredictable
outcome.
• Referral to ToD agreed. Encouraged visual input and close monitoring.
• For repeat ABR in 8 weeks.
• Referred to paediatrician and Audiovestibular physician:
- Satisfactory general and neurological examination

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- Neurological MRI, including internal auditory meati, performed without sedation (under
‘feed and wrap’ protocol). Reported as normal including VIII nerve.
- Possible genetic cause for ANSD considered and referral made to genetic service.

Repeat ABR: 8 weeks CA


No repeatable response to 1kHz tpABR at 100 dBeHL
No obvious behavioural responses to 4kHz at 85 dBeHL.
Still no repeatable response to ckABR at 85 dBeHL
CMs recorded R&L
Interpretation
• Bilateral ANSD with no evidence of maturation
• Possible genetic cause
Management
• Parents commenced home sign language tuition
• For close support & monitoring from ToD
• Review for behavioural testing as early as possible

Audiology review: 5 months CA


Parents & ToD report no observed responses to loud sounds at home.
VRA: Conditioned to vibrotactile stimulation. No response to warble tones using inserts at maximum
levels – 100 dBHL at 0.5 kHz and 120 dBHL at 1,2 & 4 kHz R or L.
Tymps: normal R&L.

Interpretation
• Behavioural testing and parental/ToD observations are all consistent with severe/profound
bilateral hearing loss
• Genetic cause suspected in view of lack of other risk factors
Management
• Discussed with parents and agreed to hearing aid trial. Aids fitted, programmed to behavioural
responses.
• Cochlear implant referral discussed with parents.

At 7 months CA
Insert VRA continues to show profound bilateral hearing loss
Limited response to hearing aids
Producing vibrotactile vowel sounds only. Beginning to show understanding of sign.
Satisfactory developmental progress.

Interpretation
• Bilateral profound hearing loss with no evidence of maturation

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• Genetic cause strongly suspected
Management
• After discussion, referred to cochlear implant programme
- Appropriate to go ahead with CI referral without further delay.

11. Appendix F: Document Revision History


Version Date Amendment History

1.1 2008 First version

2.1 2012 • The name used for the condition was updated from ‘Auditory
Neuropathy / Auditory Dys-synchrony’ to ‘Auditory Neuropathy
Spectrum Disorder’, in accordance with recent international
guidelines.
• A section on Aetiology was added.
• The section on ‘Initial Assessment’ was updated in line with the
NHSP guidelines for Early Audiological Assessment (2011) and
Cochlear Microphonic testing (2011).
• Version 1.1 recommended a repeat ABR assessment at a corrected
age of 9-15 months (to test for possible delayed maturation). In
versions 2.1 & 2.2 the guidance is to consider a repeat ABR at 12-18
months corrected age, depending on the circumstances of the
individual case. Appendix B discusses the issues around this
decision. (Guidance on an earlier repeat ABR at 8-10 weeks
corrected age is unchanged.)
• Section 3.4 on Intervention was re-ordered to highlight the
importance of early communication support, before the age at
which decisions about amplification can be made.
• A brief section on the management of unilateral ANSD was added.
• Some example case scenarios, illustrating the diversity and
spectrum of the disorder, are given in Appendix E.
• Appendices on additional audiological tests (including recent work
in electrophysiology) and on medical assessment were added.
• Previous (version 1.1) Appendices 1 (timeline) and 2 (cochlear
microphonic testing, plus addendum) were removed. This
information is now incorporated into the main document and into
the separate ‘Guidelines for cochlear microphonic testing’.
• The References section was updated.

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Minor changes have been made to clarify some points. In particular, issues
2.2 2013
around the definition and initial diagnosis of ANSD in sections 1&2 and the
timing of possible cochlear implant referral in section 3.4d have been
clarified. Slight changes to section 2 (‘Initial Assessment’) have also been
made for consistency with the 2013 revision of the NHSP Early Assessment
guidelines.

3.0 2019 (this • Advice on testing and interpretation updated


version) • Expansion of testing and interpretation section with specific advice
when ABR has abnormal presentation
• Aetiologies and Risk Factors expanded
• References have been updated
• A new appendix has been added explaining the definition of
abnormal ABR
• Sites of lesion section added
• Initial and ongoing assessment sections merged and a flow chart
incorporated.
• Advice to attempt both OAEs and CM if possible

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