Download Auditory Neuropathy Spectrum Disorder (ANSD)

Auditory Neuropathy Spectrum
Disorder (ANSD)
Sarah Hogan DPhil LSLS Cert AVT
Elizabeth Tyszkiewicz MSc LSLS Cert AVT
© AVUK 2014
Language Learning – the computer analogy
(with thanks to Nancy Caleffe Schenk)
Evidence of communication learning
Hearing technology
Brain
Hard disk/data processor
Keyboard
Evidence of communication learning
Diagnostic criteria
Presence of otoacoustic emissions (OAEs)
Presence of Cochlear Microphonic (CM)
Absent or abnormal morphology of
auditory brainstem response (ABR)
© AVUK 2014
Sub groups of ANSD
Frequency specific ECoG suggests that preand post- synaptic mechanisms of ANSD exist:
Prolonged latency of SP ± CAP activity
Presynaptic lesion
Normal latency of SP followed by a dendritic
potential
Post synaptic lesion
© AVUK 2014
Risk factors:
Acquired ANSD
• Extreme prematurity
• Anoxia
• High jaundice levels
• Viral infection
Genetic ANSD
• Congenital brain anomalies
• Syndromes
– Friederich’s ataxia
– Charcot Marie Tooth
• Genetic factors:
– OTOF
– DFNB59
© AVUK 2014
Genetic causes of non-syndromic ANSD
Inheritance type Genetic markers linked to ANSD
• Autosomal dominant AUNA1
• PCDH9
• Autosomal recessive OTOF/DFNB9
• Pejvakin/DFNB59
• GJB2
• X linked AUNX1
© AVUK 2014
ANSD
“As thresholds bear little relationship to
speech discrimination ability,
management decisions for these children
are based on functional communication
development rather than behavioural or
ABR thresholds, unlike children with
sensorineural (cochlear) hearing loss.”
© AVUK 2014
Temporal coding
Temporal coding of acoustic signals in
auditory nerve fibres is disrupted in ANSD,
resulting in the impairment of auditory
perceptions that rely on temporal cues:
Poor speech perception in noise
© AVUK 2014
ANSD
Herein lies the crux of the problem –
ANSD is not a condition per se – it is a
description of an anomalous set of
symptoms and test results which define
this type of hearing loss as apart from
more common sensorineural or
conductive hearing losses.
© AVUK 2014
Management
“The impact of ANSD on a child’s hearing
ability varies amongst individuals. It is not
possible to predict either a degree of
hearing loss or a prognosis for speech
and
language
development
and
communication ability based on the
diagnosis of ANSD.”
ANSD guidelines Oct 2012 sect 1.4
© AVUK 2014
ANSD Guidelines
“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.”
But……
© AVUK 2014
Dual Goals for Intervention
Enable child to fulfil his or her potential
Establish auditory learning ability, its extent,
and its variability
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The AV approach
Therapy explores and uses auditory
potential
All therapy sessions are diagnostic
Milestones are known, so management
can be adapted in a timely manner
© AVUK 2014
Charles Berlin
“Insofar as the child makes more than three
months’ progress every quarter, then the
therapeutic choices made by the family
are salutary. If the child does not make
such progress, changes in the treatment,
management and habilitation programmes
should be considered”
Management of individuals with ANSD, 2008
© AVUK 2014
Overall goals of intervention
Allow the individual to become a
competent communicator
Fulfil intellectual & social potential
Create positive memories of childhood
experience and learning
© AVUK 2014
Areas for evaluation
Attention/pragmatics
Non verbal communication
Language
Auditory ability
Speech ability
© AVUK 2014
Expected progress
Minimum benchmarks for listening
Minimum benchmarks for speech
The “language gap”
© AVUK 2014
Measuring baseline attainment
for audition
Detection
Discrimination
Identification
Understanding
….then work out what you can aim for
© AVUK 2014
Child A
Born at 27 weeks
NICU for 3 months - stormy neonatal period
Failed NBHS
Diagnosed at 4 mths (1mth corrected age)
Behavioural responses at 5 mths – access to
low, mid and high frequencies 80-120 dBHL
© AVUK 2014
Parents as experts
Listen to parents’ observations
Develop a collaborative approach
© AVUK 2014
Video 1 parents as experts
© AVUK 2014
Diagnostic hearing assessment
Control the environment
Enlist parents as observers
Look for repeatable behaviours linked to the
stimulus
Record responses over time
© AVUK 2014
Video 2 Turning to Dad
© AVUK 2014
Behavioural
responses at 5 mths
Behavioural
thresholds at 8 mths
Behavioural
thresholds at 11 mths
X A/C threshold Left ear dBHL O A/C threshold Right ear dBHL
© AVUK 2014
Language assessments
Pre-School Language Scale (IV) UK
SS Auditory
SS Expressive
SS Total
Comprehension Communication Language Age
2:03 years
110
92
101
2:10 years
114
93
103
Renfrew Action Picture Test
4:04 years
Child A’s score
Average score
± 1 Std Dev
Information
32
27
5.33
Grammar
18
20
5.84
© AVUK 2014
Child M
One of twins
Born at 30 weeks
Twin to twin transfusion in utero
E-Coli sepsis
3 months NICU
Following 3 mths in and out of hospital
© AVUK 2014
Child M
One of twins
Born at 30 weeks
Twin to twin transfusion in utero
E-Coli sepsis
3 months NICU
Following 3 mths in and out of hospital
© AVUK 2014
Child M
Newborn hearing screen
RIGHT
LEFT
AOAE
Not completed
Clear response
AABR
No clear
response
No clear
response
RIGHT
LEFT
CM
Not tested
? present
Diagnostic ABR
> 90dBnHL
= 90dBnHL
Child M
May 2010 Fitted Phonak Eterna 411dAZ hearing
aids (6 mos (3 mos CA))
Sept 2010 Parents report increasing auditory
awareness
Nov 2010 Parents report increasing responsivity
and reluctance to wear h/aids
© AVUK 2014
Child M
Minimal level responses: 3 assessments over 6
months
1;00 year – 1;06 years
Child M
Chronological age 1;11 years
Comprehension 50th
percentile
Corrected age 1;09 years
Comprehension 75th
percentile
Child M
Chronological age 1;11 yrs
Production - 75th percentile
Corrected age 1;09 years
Production - >90th percentile
Child M
Discrimination
• ‘M’ can imitate all Ling sounds except the
following at the right ear
• OO mm but can copy ‘moon’
• EE
mm but can copy ‘weee’
? What speech information is being
encoded at mid frequencies?
Child M
Identification
• Using right aid only can discriminate live
voice presentation of Cambridge
Consonant Confusion Task
• Using left aid only:
Owl
mmm
fan
fen
man
noun
ship
sick
Child M
• Language gap?
150
140
Standarad Score
130
120
110
100
AC
EC
90
TLA
80
70
60
50
18
24
30
Age (months)
36
42
Video 3 Twinkle twinkle
© AVUK 2014
Summary
Parents are key contributors to the management
plan of children with ANSD
As a multi-disciplinary team with parents
coached in critical observation, the expectation
is that children will make time-limited progress in
listening and speech.
If the anticipated progress is not made, change
the plan.
© AVUK 2014
Take Home message
Underneath the
puzzling science, there
is a child and a family
hoping for answers.
© AVUK 2014
Useful reading
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Guidelines for the Assessment and Management of Auditory Neuropathy Spectrum
Disorder in Young Infants (Version 2.1) NHSP Clinical Group, October 2012
Multi-site diagnosis and management of 260 patients with Auditory Neuropathy/Dyssynchrony (Auditory Neuropathy Spectrum Disorder) Berlin C et al (2010) Int J
Audiology
49 (1);30-43
C. M. McMahon, K. M. Bate, A. Al-meqbel and R. B. Patuzzi (2012). Cochlear
Implantation in Auditory Neuropathy Spectrum Disorder, Cochlear Implant Research
Updates, Dr. Cila Umat (Ed.), ISBN: 978-953-51-0582-4, InTech,
http://www.intechopen.com/books/cochlear-implant-researchupdates/cochlearimplantation-in-auditory-neuropathy-spectrum-disorder
Speech and the Hearing-Impaired Child: Theory and Practice (2002) Daniel Ling
Publisher: Alexander Graham Bell Association For The Deaf
G. Rance Speech and Language Development in Children with Auditory
Neuropathy/Dys-synchrony: Long-Term Outcomes for Cases Managed with Cochlear
Implants or Hearing Aids Phonak e Learning Chicago 2007
http://www.phonakpro.com/com/b2b/en/events/proceedings/pediatric_conference_20
07.html
Guidelines for Identification and Management of Infants and Young Children with
Auditory Neuropathy Spectrum Disorder Guidelines Development Conference
at NHS 2008, Como, Italy
Thank you for listening!
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Auditory VerbalUK
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© AVUK 2014
In memory of Jacqueline Stokes,
exceptional AV therapist, teacher and counsellor
© AVUK 2014