Rock around the cochlea: clinical and genetical
aspects of hearing loss.
From lab to bed: the management of hearing impaired
people.
G. Paludetti, P Picciotti, AR Fetoni
,
Università Cattolica del Sacro Cuore, Policlinico A. Gemelli Roma
Department of Otolaryngology, Head and Neck Surgery
Chief Professor Gaetano Paludetti
GOALS OF THE MANAGEMENT OF
HEARING IMPAIRED PEOPLE
• CHILDREN: language development (very early
diagnosis)
• ADULTS: communicative ability (relational and
social competences)
DIAGNOSIS
• CHILDREN
Sofisticated Instrumental Tools:
Otoacustic Emissions (OAEs),
Auditory Brain-stem Evoked
Responses (ABRs), Behavioural
audiometry, Tympanometry,
Electrocochleography (ECochG),
Imaging.
• ADULTS
Pure tone and Speech
audiometry, Tympanometry,
Imaging, rarely OAEs and ABRs
TEST
AGE
CLINICAL APPLICATIONS
DISADVANTAGES
Objective tests
OTOACUSTIC
EMISSIONS
Since the third or fourth day
First option test for newborn hearing screening
of life
No responses obtained in presence of middle
ear disease and hearing loss > 30-40 dB
ABR
Since 26 weeks gestational
age. After 12-18 months,
morphology and parameters
are similar to the adults
Gold standard for screening of infants with
audiological high risk, Comfortable
examination conditions (spontaneous sleep,
sedation)
Threshold evaluations (no more than 80-90
dB) restricted to frequencies between 1 and
4kHz (spectral content of click)
AUDITORY STEADY-STATE
RESPONSE
All ages
Frequential specificity
Results affected by sleep-wake rhythm,
movements of patient and administration of
drugs
ELECTRO
COCHLEOGRAPHY
All ages
Second option after ABR
Invasive method that requires surgery and
general anaesthesia
TYMPANOMETRY
ACOUSTIC REFLEX
All ages
All ages
Non-invasive method, useful to detect middle
ear disease especially in children
Useful in childhood hearing loss for the
evaluation of middle ear function, and for
hearing aid evaluation
Additional tests are required
Additional tests are required
Subjective tests
CRIB-O-GRAM
0-6 months
Useful preliminary test in infants
Non-specific evaluation of side, Interindividual variability, Often mistaken
interpretation of infant’s reactions
BOEL-TEST
6-12 months
Multifunctional test that combines visual to
sound stimuli
Additional tests are required
>6 months
The test can predict an audiometric curve
useful in planning intervention
- Operant discrimination procedure,
Behavioural responses to sound may not
provide an exact auditory threshold
BEHAVIOURAL OBSERVATION
AUDIOMETRY
( BOA)
VISUAL REINFORCEMENT
AUDIOMETRY
(VRA)
CONDITIONED PLAY
AUDIOMETRY
(TRAIN SHOW, PEEP SHOW)
1-3 years
2-5 years
Variability in responses due to several factors
(age, conditioning of the child, emotional
stress caused by environment, technical staff)
Provides a complete hearing test with binaural Variability in responses due to several factors
air and bone threshold and can guide diagnosis (age, conditioning of the child, emotional
stress caused by environment, technical staff)
Test measures binaural hearing thresholds in
free field
Children
-In the last two decades, the application of
universal neonatal hearing screening (UNHS)
compared to the risk factor screening protocols
has improved identification of hearing loss early
in life and facilitates early intervention.
-The proven benefits of early identification and
intervention (at <6 months of age) in terms of
language outcomes and communication have
confirmed the effectiveness and costeffectiveness of UNHS (Grasso et al., 2008).
Children
Neuroplasticity
•In contrast to the cochlea, which is mature by 26 weeks of
gestation, the auditory cortex is immature at birth and it
is highly plastic during the developmental period
(referring to a dynamic process by which changes in synapses,
neurons and neuronal networks depending on behavioral,
environmental or neural processes).
•Studies in neuroplasticity have established the existence of,
and the time limits for, a sensitive period for auditory restoring:
the optimal time is under 2 years of life when central auditory
pathways show the maximum plasticity to sound stimulation.
UNHS
Personal data in WELL BORN BABIES:
(2009-2013)
First TEST pre-dimission
12871
newborns
Diagnostica audiologica
PASS
REFER
11,847
(92,0%)
1024
(7,95%)
Normoacusis
Monolateral
deafness
Bilateral
deafness
59
(53%)
21
(18,91%)
27
(24,32%)
(ABR, OAES, Tympanometry)
111 babies
39 have not carried out
(26% drop-out)
4 waiting control
GENETIC AND DIAGNOSIS
Current role and importance
of genetic findings in
diagnosis of HL:
-aetiological
-early diagnosis
-preconceptional and/or prenatal
-that can direct to therapy in some
cases
-universal genetic screening?
Criticism:
-different relationship between
genotype and phenotype
-current inability to test all the
possible involved genes (structures
and costs)
-lack of knowledge in possible other
involved genes
-ethical problems
-not specific therapy
• Hearing loss classification
DEGREE
TYPE
Mild
Moderate
Severe
Profound
(21-40 dB)
(41-70 dB)
(71-90 dB)
(>90 dB)
Conductive
Sensorineural
Mixed
Auditory
(presence of
(without “air-
(combination of
processing
“air-bone
bone gap”)
conductive and
disorders
gap”)
ONSET TIME
Prenatal
AETIOLOGY
Congenital
SN HL)
Neonatal
Postnatal
Acquired
(genetic or not genetic)
SPEECH
DEVELOPMENT
Prelingual
Postlingual
CAUSES OF HL IN CHILDREN
CONDUCTIVE HL
GENETIC
NON GENETIC
Malformatives syndromes
Foreign body
Trauma
Otitis media (Effusive )
SENSORINEURAL HL
GENETIC
NON GENETIC
-Syndromic disease (Alport syndrome,
-In utero infections
-Neonatal Intensive Care Unit recovery
-Perinatal hypoxia and prematurity
-Hyperbilirubinaemia, Ototoxic drugs
exposure in pregnancy, Anatomic
abnormalities of the cochlea or temporal
bone
-Infections
-use of ototoxic drugs
-trauma
Usher syndrome, Waardeburg syndrome, etc.)
-Genetic non-syndromic hearing loss
(Connexine 26-30, mitochondrial diseases,
other genetic disorders)
CAUSES OF HL IN ADULTS
CONDUCTIVE HL
GENETIC
NON GENETIC
Otosclerosis
Foreign body
Trauma
Chronic otitis media
SENSORINEURAL HL
GENETIC
NON GENETIC
-Genetic hearing loss
-Presbycusis
-Noise exposure
-Ototoxic drugs exposure
-Sudden hearing loss
-Trauma
-Autoimmune diseases
-Chronic otitis media complications
• Hearing loss classification TYPE
Auditory processing disorders (APDs)
It has been defined (ASHA, 2005; BSA, 2005)
as a disorder in the recognition,
discrimination, ordering, grouping and
localization of sounds, ,emphasizing the
processing of non-speech sounds with
major difficulty in speech perception in
noise.
Among the APDs it can be included the
auditory neuropathy (AN), also called
Auditory Neuropathy Spectrum Disorders
(ANSD), consist of a variety of peripheral
disorders due to dys-synchrony of the
auditory peripheral system . The lesion
can involve auditory nerve fibres (presynaptic AN), inner hair cells or the
synapses interposed between axons and
receptors (post-synaptic AN).
Therapy
• Medical (otitis media, sudden hearing loss, Meniere
Disease): corticosteroids, antibiotics, antiviral…
• Surgical (conductive deafness)
• Hearing aid (conductive or sensorineural deafness)
• Coclear implant (sensorineural severe and
profound deafness)
• Auditory Brainstem Implant (retrocochlear
hearing loss)
• Speech therapy
Surgery in children
Surgery in adults
• Otitis media effusive: Myringotomy
• Otosclerosis
and tympanocentesis or insertion of
tympanic tube and adenoidectomy
and/or tonsillectomy.
• Chronic otitis media and
cholesteatoma: in order to
eradicate the pathology, preventing
the recurrence or complications and
preserving the auditory function.
• Malformations (Aural atresia,
Microtia, Ossicular chain anomalies,
Syndromic and complex
craniosynostosis):
• Traumas
(stapedectomy)
• Chronic otitis media and
cholestatoma
• Traumas
• Acoustic neuroma:
different approaches
depending to the site, the
size, the hearing threshold.
Hearing aid
GLASSES
HEARING AID
OPEN/ RITE
(open
ear/ricever in
the ear)
BTE (behind the
ear)
ITC (in the
canal)
CIC (completely
in the canal)
IIC (invisible
in canal)
Analogic and digital tecnology
Implantable Hearing aid
BAHA® Bone Anchored Hearing Aid
-conductive HL
-monolateral sensorineural
or conductive HL
Implantable Hearing aid
TICA
Totally Integrated Cochlear Amplifier
(Implex American Hearing System)
-moderate to severe
high-frequency
sensorineural HL
Implantable Hearing aid
Vibrant Soundbridge System
-moderate to severe
sensorineural HL
Cochlear implant (CI)
At today an estimated 219,000 patients worldwide have received CI
Personal experience:231 CI
Electrodes position
ABI: COMPONENTS
Primo impianto (maggio 1995)
Lille - Prof. Vaneecloo / Dr. Vincent / Prof. Lejeune
Electrodes position
ABI
Therapy-Audiologic Rehabilitation and SpeechLanguage Therapy.
•The services provided will depend on each
child’s individual needs and are based on
the following factors: age of the child, age
of onset of the hearing loss, age when
hearing loss was discovered, degree of
hearing loss, type of hearing loss and age
of child when hearing aids were first used,
familiar needing.
Different skills:
-developing language,
-training in listening
-proper use of hearing aids and
hearing assistive devices.
Therapy-Audiologic Rehabilitation and SpeechLanguage Therapy.
Therapy-Audiologic Rehabilitation and SpeechLanguage Therapy.
In the adults is recommended:
-after cochlear implant
-in APD
The aim of rehabilitation:
•Assessment of auditory and communication skills
•Assessment, counseling and training in the use of
technical aids
•Counseling and training in strategies for improved
communication with family and surroundings
Conclusions
• In the presence of hearing loss, children can
show speech/language development, social
problems and academic difficulties.
• Diagnosis of deafness in children must be early,
accurate and, possibly, aetiologic.
• The most effective treatment consists in early
intervention: early fitting of hearing aids or
cochlear implant and early special educational
programs.
• In adults restoring hearing is essential to
overcome the communicative disability and to
prevent the onset of a subsequent relational and
social handicap
Thank you