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Development of a Multidisciplinary Hearing Assessment Clinic in Utah: The Rationale and Preliminary Outcomes. Albert H. Park, MD; Steve Bleyl, MD; John Carey, MD; Cache Pitt, MS, CCC-A. Evaluation and Management of Pediatric Hearing Loss. Emphasis on Screening of Newborns

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slide1

Development of a Multidisciplinary Hearing Assessment Clinic in Utah: The Rationale and Preliminary Outcomes

Albert H. Park, MD; Steve Bleyl, MD; John Carey, MD; Cache Pitt, MS, CCC-A

evaluation and management of pediatric hearing loss
Evaluation and Management of Pediatric Hearing Loss
  • Emphasis on Screening of Newborns
  • What to do when a child does not pass screening?
  • Parental perspective of the evaluation
  • Rationale for Multidisciplinary clinic
  • Role of Geneticist
  • Role or Audiologist
  • Role of Otolaryngologist
  • Case Presentations
slide3

A Survey of Parental Views Regarding Their Child’s Hearing Loss

Albert H. Park, MD; Jonathon Warner, BS; Nanette Sturgill, MS, CCC-A; Stephen Alder, PhD

Otolaryngology-HNS journal 2006

materials and methods
Materials and Methods:
  • All pediatric SNHL pts (2000-2004)
  • Audiology database @ PCMC
  • Only 30 level peds center Utah
  • Survey query experiences with testing and rx
methods and materials
Methods and Materials:
  • N=389 surveys mailed SNHL families
  • 113 families responded
  • 1 family requested not to be included
  • 4 patients later found normal hearing
  • 108 respondents basis study
methods and materials1
Methods and Materials:
  • Patient population:
  • Some identified via newborn screening
  • Some identified later childhood
  • Statistical analysis when indicated
  • Approval obtained UU IRB
results
Results:
  • Distribution of patients based screening
  • 61% not pass screening
  • 23% passed screening
  • 13% did not know results screening
results2
Results:
  • Information for No Pass Group
  • Audiology and Labor/delivery (L+D) most helpful
  • >15% no one provided information
results3
Results:
  • Primary Care Physician (PCP) involvement mixed
  • 22.4% PCP not aware
results4
Results:
  • Reasons for delay diagnosis
  • Difficulty audio. apt
  • Multiple tests (test)
  • Difficulty getting referral from PCP (refer)
  • Poor medical advice (advice)
results5
Results:
  • Significant % underwent 4 or more tests
results6
Results:
  • 62% families using hearing aids – difficulty obtaining the aids
  • Thirty-one patients underwent cochlear implantation
  • 58% families using cochlear implants – difficulty obtaining devices
results7
Results:
  • Steps to dx child’s hearing loss difficult?
  • 60% families – process difficult
  • Desire more information
  • Importance not be intimidated
  • Importance early rx
  • Need for streamlined process
  • Desire for parental network
discussion
Discussion:
  • Utah Newborn Screening Program-successful
  • > 98% 28,037 newborns born this yr tested
  • Initial state pass rate 93%
  • Utah Dept Health- responsible data collection and management
discussion1
Discussion:
  • Significant degree parental frustration and obstacles
  • 15% comments no information @ newborn screening
  • 22% PCPs not aware hearing loss
  • Delays in diagnosis- apt, testing, referral problems
  • Multiple tests
discussion2
Discussion:
  • Hearing Assessment Clinic (HAC):
  • Provide resources for evaluation and rx
  • Multidisciplinary
  • Genetics, pediatric audiology and otolaryngology
  • Close communication with primary care and outside audiologists
the role of the pediatric audiologist
The Role of the Pediatric Audiologist
  • Resource for parent
    • Review test results
    • Review implications of hearing loss
    • Referral source
    • Rehabilitation recommendations
  • Resource for audiologist
    • Repeat testing as necessary
    • Facilitate communication with the physicians
  • Resource for referring physicians
the role of the pediatric audiologist1
The Role of the Pediatric Audiologist
  • Challenges in pediatric audiology
    • Impact of Diagnosis on family
    • Impact of hearing loss on the child
    • Testing
    • Communication with other professionals
    • Geography
the role of the pediatric audiologist2
The Role of the Pediatric Audiologist
  • Challenges in pediatric audiology
    • Impact of Diagnosis on family
    • Impact of hearing loss on the child
    • Testing
    • Communication with other professionals
    • Geography
the role of the pediatric audiologist3
The Role of the Pediatric Audiologist
  • Impact of Diagnosis on the family
    • Diagnosis is new information for the families
    • Families identified through newborn hearing screening have usually not had indications from the child that they are not hearing
the role of the pediatric audiologist4
The Role of the Pediatric Audiologist
  • At the time of diagnosis the family often stops hearing after they learn that their child has a hearing loss
  • The family may not hear information
  • The family may misunderstand details provided because of the newness and unfamiliarity of hearing loss
  • The amount of information regarding hearing loss and rehabilitation is overwhelming, but must be found first.
the role of the pediatric audiologist5
The Role of the Pediatric Audiologist
  • Challenges in pediatric audiology
    • Impact of Diagnosis on family
    • Impact of hearing loss on the child
    • Testing
    • Communication with other professionals
    • Geography
the role of the pediatric audiologist6
The Role of the Pediatric Audiologist
  • Impact of hearing loss on the child
    • Hearing loss can potentially affect communication, education, socialization, and employment
    • Goal is to aid children as quickly as possible to support the acquisition of spoken language
the role of the pediatric audiologist7
The Role of the Pediatric Audiologist
  • Challenges in pediatric audiology
    • Impact of Diagnosis on family
    • Impact of hearing loss on the child
    • Testing
    • Communication with other professionals
    • Geography
the role of the pediatric audiologist8
The Role of the Pediatric Audiologist
  • Testing
  • Diagnosis of hearing loss in children is accomplished using a battery of tests and repeatable test results
  • Even with a cooperative child, diagnosis of hearing loss is not accomplished off of only one test or one set of test results
  • Non-participatory children will require multiple visits
the role of the pediatric audiologist9
The Role of the Pediatric Audiologist
  • Challenges in pediatric audiology
    • Impact of Diagnosis on family
    • Impact of hearing loss on the child
    • Testing
    • Communication with other professionals
    • Geography
the role of the pediatric audiologist10
The Role of the Pediatric Audiologist
  • Communication with other professionals
  • Sometimes it is very difficult to catch-up with the ENT and other physicians to communicate concerns/results
the role of the pediatric audiologist11
The Role of the Pediatric Audiologist
  • Challenges in pediatric audiology
    • Impact of Diagnosis on family
    • Impact of hearing loss on the child
    • Testing
    • Communication with other professionals
    • Geography
the role of the pediatric audiologist12
The Role of the Pediatric Audiologist
  • Geography
    • Patients often have to travel distances
      • To have access to many professionals at once eases the burden and cost of care on the family
    • Some patients may not have access to a managing audiologist, the HAC audiologist may be their only resource
the role of the pediatric audiologist13
The Role of the Pediatric Audiologist
  • Resource for parent
    • Review test results
    • Review implications of hearing loss
    • Referral source
    • Rehabilitation recommendations/discussion
  • Resource for audiologist
    • Repeat testing as necessary
    • Facilitate communication with the physicians
  • Resource for referring physician
the role of the otolaryngologist in hac
The Role of the Otolaryngologist in HAC:
  • Evolving
  • Detection and treatment of middle ear pathology
  • Seeing patients younger age
  • Involved diagnostic testing
  • Involved coordination or imaging and treatment
the role of imaging for idiopathic sensorineural hearing loss snhl
The Role of Imaging for Idiopathic Sensorineural Hearing Loss (SNHL)
  • n=46 pediatric patients with inner ear anomalies and SNHL
  • 21% patients seen in a multidiscipinary hearing assessment clinic (1987-1996)
  • Most common cochlear abnormalities: cochlear hypoplasia and incomplete partition
  • Enlarged vestibular aqueduct most common radiolographic abnormality

Park et al. Laryngoscope 2000

the role of imaging for idiopathic sensorineural hearing loss snhl1
The Role of Imaging for Idiopathic Sensorineural Hearing Loss (SNHL)
  • Identification insight other genetic conditions (e.g. Pendred’s syndrome)
  • Certain inner ear anomalies associated with progressive sensorineural hearing loss or meningitis (e.g. EVA, cochlear hypoplasia)
  • Early counseling regarding contact sports, genetic testing
role of mri vs ct scan
Role of MRI vs CT scan:
  • Controversial
  • CT scan – faster to obtain, fewer problems with insurance, bony detail
  • MRI- assess cochlear nerve (cochlear implantation)
  • MRI – more sensitive detection of EVA?
role of mri vs ct scan1
Role of MRI vs CT scan:

From Greinwald (2006)

the role of the geneticist in hac
The Role of the Geneticist in HAC:
  • What is the role of the geneticist?
  • What are the key aspects of a genetics evaluation and testing?
  • What is the value of a making a genetic diagnosis?
the parents have questions
The parents have questions…
  • What caused this?
  • Will it happen again?
  • Will our child develop other medical problems? Can those problems be treated?
  • Will my child's hearing loss stay the same or get worse?
  • What can we do about it?
slide41

Infant with

hearing loss

ENT, audiology,

eye exam

consider

EKG, CT / MRI

Known environmental

cause, e.g. CMV

No known

environmental cause

Physical anomalies/

signs  syndrome

No other signs

If positive:

diagnosis

Do Cx26/Cx30

Family history

Positive

Negative

Cryptogenic

Hearing loss

AD, AR

X-linked

Do confirmatory

testing

Other testing

Modified from Rudolph’s Pediatrics

step 1 is there evidence for acquired hearing loss
Step 1: Is there evidence for acquired hearing loss?
  • Prematurity (2-5% of NICU graduates)
    • Birth wt <1500g
  • Jaundice
  • Gentamycin
  • Intracranial bleeding
  • ECMO
  • Low APGAR scores
  • In utero infections : CMV, Rubella, toxoplasmosis
step 1 is there evidence for acquired hearing loss1
Step 1: Is there evidence for acquired hearing loss?
  • Basic screening Labs:
    • Urine/saliva -- culture
    • Blood -- serology
    • DNA -- PCR
  • Further investigation:
    • CT: periventricular calcifications
    • Eye exam: CMV chorioretinitis

Univ Toronto, Dept of Ophthalmology

step 2 syndromic or nonsyndromic
Step 2: Syndromic or Nonsyndromic?
  • Syndrome: A pattern of multiple primary malformations (or dysfunctions) resulting from a single underlying cause.
  • Is this an isolated problem? Or is this an element of a more widespread condition?
slide45
Case
  • Growth retardation
  • Squared-shaped auricles
  • Coloboma
  • Cochlear abnormalities
  • CHARGE syndrome
  • CHD7 mutations in 60%
slide47
Case
  • SGA, microcephaly
  • Atretic ear canals
  • Wide nasal root
  • Broad forehead
  • Down turned corners of the mouth
  • Deletion 18q
  • ~30% of syndromic cases were chromosomal
step 3 consider a genetic cause of nonsyndromic hearing loss
Step 3: Consider a genetic cause of nonsyndromic hearing loss
  • 15% of all bilateral prelingual hearing loss is caused by mutations in the GJB2 (Cx26) gene
  • ~150 other single gene causes of nonsyndromic hearing loss

No signs of syndrome

If positive:

diagnosis

Do Cx26/Cx30

Family history

Positive

Negative

Cryptogenic

Hearing loss

AD, AR

X-linked

Other testing

what is gained by a positive genetic diagnosis
What is gained by a positive genetic diagnosis?
  • Direct (or avoid) further diagnostic testing
    • No CT or MRI if Cx26 mutation found
  • Define recurrence risk
    • Autosomal recessive? Sporadic?
  • Predict the clinical course
    • Progressive?
    • Associated deficits (blindness) or malformations?
pendred s syndrome
Pendred’s syndrome:
  • Autosomal recessive condition associated with SNHL, goiter
  • Gene associated with transport chloride and iodide within the ear and thyroid gland
  • 1/3 patients with ELV have mutation for Pendred syndrome (SLC26A4 gene)
  • Risk for progressive SNHL, vestibular dysfunction and goiter
slide51

Distribution of CX26 Deafness

GJB2 mutations

(n=66)

NoGJB2 mutations

(n=158)

prognosis in cx26 related deafness
Prognosis in Cx26 related deafness
  • Little or no progression of hearing loss
  • Normal intellect
  • Good response to cochlear implantation
genetic diagnosis future
Genetic diagnosis: future
  • Connecting Connexin26 testing to newborn metabolic screening
  • Offer genetic testing a broader array of syndromic and nonsyndromic hearing loss
a future deafness screening protocol

Nonsyndromic

Syndromic

GJB2/GJB6 Testing

Appropriate Gene(s)

Usher Syndrome

MYO7A

USH1C

CDH23

PCDH15

Aminoglycosides

Family Hx

No Family Hx

SANS

USH2A

VLGR1

USH3

Mitochondrial

12S rRNA

tRNA ser

X-linked

POU3F4

Dominant

Recessive

MYO6

ACTG1

DSPP

TECTA

EYA4

MYO7A

COL11A2

POU4F3

TMC1

MYO1A

DIAPH1

WFS1

GJB3

KCNQ4

DFNA5

MYH9

COCH

TFCP2L3

MYO7A

MYO15

SLC26A4

OTOF

TMPRSS3

TECTA

CLDN14

TMC

STRC

GJA1

TMIE

CDH23

USH1C

OTOA

MYO3A

PCDH15

WHRN

ESPN

MYO6

PRES

(Courtesy of C. Morton, PhD)

A future deafness screening protocol
case histories1
Case Histories:
  • 3 mo infant not pass 5 OAE tests
  • Exam notable for bilateral serous otitis media
  • Otherwise healthy
  • Placed ear tubes
  • Repeat OAEs- normal
  • Child has done well speech and language FU 2 years
case histories2
Case Histories:
  • 7 year old with primary ciliary dysmotility
  • s/p t-tube insertion
  • Chronic otorrhea and moderate conductive hearing loss
  • Problems in school
  • Cannot wear hearing aids because of otorrhea
  • Bone anchored hearing aids
rationale
Rationale
  • Skull bone
  • Skin and subcutaneous tissue
  • Implanted titanium fixture
  • Titanium abutment
case histories3
Case Histories:
  • 3 mo with periorbital swelling and cutaneous lesions
  • Right profound SNHL
  • See ophthalmology
  • MRI t-bone and neck
case histories6
Case Histories:
  • 7 mo old child with moderate to severe SNHL
  • Presented with failed hearing screening
  • CMV PCR testing – normal
  • Exam- serous otitis media
  • Temporal bone CT scan
operculum midpoint

Tangent line

A = B

B

A

90O angle

Operculum Midpoint

From Greinwald (2006)

enlarged vestibular aqueduct
Enlarged Vestibular Aqueduct
  • EVA definition (>97.5%)
    • Abnormal-Midpoint->1.0mm
    • Operculum->2.0mm
  • (from Greinwald et al. 2006)
efficacy of steroids for progressive snhl associated with eva
Efficacy of Steroids for Progressive SNHL associated with EVA:
  • Lin et al. – prednisolone for EVA progressive SNHL.
  • 11/13 patients responded to steroids
  • Grimmer et al.
  • 8/12 w LVA responded to steroid therapy
case histories8
Case Histories:
  • Blood test to University of Iowa positive SLC26A4 (Pendred syndrome)
  • Hearing thresholds have been stable x 3 mo.
conclusion
Conclusion:
  • Insight into exciting and evolving field
  • Multidisciplinary clinic for HAC helpful
  • Role of team members
  • Important to understand nuances of newborn hearing loss- audiologic tests, genetic and imaging options