division of otolaryngology ~ head & neck surgery, university of utah development of a...

Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

Development of a Multidisciplinary Development of a Multidisciplinary Hearing Assessment Clinic in Utah: Hearing Assessment Clinic in Utah:

The Rationale and Preliminary The Rationale and Preliminary OutcomesOutcomes

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


Evaluation and Management of Evaluation and Management of Pediatric Hearing LossPediatric Hearing Loss

Emphasis on Screening of NewbornsEmphasis on Screening of Newborns

What to do when a child does not pass screening?What to do when a child does not pass screening?

Parental perspective of the evaluation Parental perspective of the evaluation

Rationale for Multidisciplinary clinicRationale for Multidisciplinary clinic

Role of GeneticistRole of Geneticist

Role or AudiologistRole or Audiologist

Role of OtolaryngologistRole of Otolaryngologist

Case PresentationsCase Presentations


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

LossLoss

Albert H. Park, MD; Jonathon Warner, BS; Nanette Sturgill, Albert H. Park, MD; Jonathon Warner, BS; Nanette Sturgill,

MS, CCC-A; Stephen Alder, PhDMS, CCC-A; Stephen Alder, PhD

Otolaryngology-HNS journal 2006


Materials and Methods:

All pediatric SNHL pts (2000-2004)All pediatric SNHL pts (2000-2004)

Audiology database @ PCMCAudiology database @ PCMC

Only 3Only 30 0 level peds center Utah level peds center Utah

Survey query experiences with testing and rxSurvey query experiences with testing and rx


Methods and Materials:

N=389 surveys mailed SNHL familiesN=389 surveys mailed SNHL families

113 families responded113 families responded

1 family requested not to be included1 family requested not to be included

4 patients later found normal hearing4 patients later found normal hearing

108 respondents basis study108 respondents basis study


Methods and Materials:

Patient population:Patient population:

Some identified via newborn screeningSome identified via newborn screening

Some identified later childhoodSome identified later childhood

Statistical analysis when indicatedStatistical analysis when indicated

Approval obtained UU IRBApproval obtained UU IRB


Results:

Distribution of patients Distribution of patients based screeningbased screening

61% not pass screening61% not pass screening

23% passed screening23% passed screening

13% did not know results screening

Newborn Screening Results

0

10

20

30

40

50

60

70

notpassed

passed not know not done

Screening categories

Per

cen

t o

f P

atie

nts

not passed

passed

not know

not done


Results:

Status Newborn Status Newborn ScreeningScreening

Age of Diagnosis of Age of Diagnosis of Hearing Loss [mo]Hearing Loss [mo]

Not passedNot passed 7.1± 12.6 7.1± 12.6

Not KnowNot Know 42.0 ± 29.842.0 ± 29.8

PassedPassed 26.8 ± 17.926.8 ± 17.9


Results:

Information for No Pass Information for No Pass GroupGroup

Audiology and Audiology and Labor/delivery (L+D) Labor/delivery (L+D) most helpfulmost helpful

>15% no one provided >15% no one provided informationinformation

Informants for No Pass Group

0

5

10

15

20

25

30

35

40

Audio L+D ? No one Other

Informants

Per

cent

Pat

ient

s Audio

L+D

?

No one

Other


Results:

Primary Care Physician Primary Care Physician (PCP) involvement (PCP) involvement mixedmixed

22.4%22.4% PCP not aware PCP not aware

PCP involved in Hearing Evaluation?

0

10

20

30

40

50

60

70

80

not know no yes

PCP involved?Pe

rcen

t Pat

ient

s not know

no

yes


Results:

Reasons for delay Reasons for delay diagnosisdiagnosis

Difficulty audio. aptDifficulty audio. apt

Multiple tests (test)Multiple tests (test)

Difficulty getting referral Difficulty getting referral from PCP (refer)from PCP (refer)

Poor medical advice Poor medical advice (advice)(advice)

Reasons for Delay in Diagnosis

0

5

10

15

20

25

30

apt test refer advice

Reasons for DelayPe

rcen

t Pat

ient

s

Reasons for Delay


Results:

Significant % underwent 4 or Significant % underwent 4 or more testsmore tests

Number of Tests Prior to Diagnosis

0

5

10

15

20

25

30

35

40

1 2 3 4 >4

Number of Tests

Percen

t P

ati

en

ts

Passed Screen

Not Passed Screen


Results:

62%62% families using hearing aids – difficulty families using hearing aids – difficulty obtaining the aidsobtaining the aids

Thirty-one patients underwent cochlear Thirty-one patients underwent cochlear implantationimplantation

58%58% families using cochlear implants – difficulty families using cochlear implants – difficulty obtaining devicesobtaining devices


Results:

Steps to dx child’s hearing loss difficult?Steps to dx child’s hearing loss difficult?

60%60% families – process difficult families – process difficult

Desire more information Desire more information

Importance not be intimidated Importance not be intimidated

Importance early rx Importance early rx

Need for streamlined processNeed for streamlined process

Desire for parental network Desire for parental network


Discussion:

Utah Newborn Screening Program-successfulUtah Newborn Screening Program-successful

> 98% 28,037 newborns born this yr tested> 98% 28,037 newborns born this yr tested

Initial state pass rate 93%Initial state pass rate 93%

Utah Dept Health- responsible data collection Utah Dept Health- responsible data collection and managementand management


Discussion:

Significant degree parental frustration and Significant degree parental frustration and obstaclesobstacles

15% comments no information @ newborn 15% comments no information @ newborn screeningscreening

22% PCPs not aware hearing loss22% PCPs not aware hearing loss

Delays in diagnosis- apt, testing, referral Delays in diagnosis- apt, testing, referral problemsproblems

Multiple testsMultiple tests


Discussion:

Hearing Assessment Clinic (HAC): Hearing Assessment Clinic (HAC):

Provide resources for evaluation and rxProvide resources for evaluation and rx

MultidisciplinaryMultidisciplinary

Genetics, pediatric audiology and Genetics, pediatric audiology and otolaryngologyotolaryngology

Close communication with primary care and Close communication with primary care and outside audiologistsoutside audiologists


The Role of the Pediatric Audiologist

Resource for parent Resource for parent Review test results

Review implications of hearing loss

Referral source

Rehabilitation recommendations

Resource for audiologistResource for audiologist Repeat testing as necessary

Facilitate communication with the physicians

Resource for referring physiciansResource for referring physicians


Challenges in

Challenges in

Pediatric

Pediatric

Audiology

Audiology



Challenges in pediatric audiology Challenges in pediatric audiology Impact of Diagnosis on family

Impact of hearing loss on the child

Testing

Communication with other professionals

Geography



Challenges in pediatric audiologyChallenges in pediatric audiology Impact of Diagnosis on family

Impact of hearing loss on the child Testing Communication with other professionals Geography



Impact of Diagnosis on the familyImpact 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



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.





Testing


Geography



Impact of hearing loss on the childImpact 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





Testing


Geography



TestingTesting

Diagnosis of hearing loss in children is accomplished Diagnosis of hearing loss in children is accomplished using a battery of tests and repeatable test results using a battery of tests and repeatable test results

Even with a cooperative child, diagnosis of hearing Even with a cooperative child, diagnosis of hearing loss is not accomplished off of only one test or one set loss is not accomplished off of only one test or one set of test resultsof test results

Non-participatory children will require multiple visitsNon-participatory children will require multiple visits





Testing


Geography



Communication with other professionalsCommunication with other professionals

Sometimes it is very difficult to catch-up with Sometimes it is very difficult to catch-up with the ENT and other physicians to communicate the ENT and other physicians to communicate concerns/resultsconcerns/results





Testing


Geography



GeographyGeography 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



Resource for parent Resource for parent Review test results

Review implications of hearing loss

Referral source

Rehabilitation recommendations/discussion

Resource for audiologistResource for audiologist Repeat testing as necessary

Facilitate communication with the physicians

Resource for referring physicianResource for referring physician


The Role of the Otolaryngologist in HAC:

EvolvingEvolving

Detection and treatment of middle ear Detection and treatment of middle ear pathologypathology

Seeing patients younger ageSeeing patients younger age

Involved diagnostic testingInvolved diagnostic testing

Involved coordination or imaging and treatmentInvolved coordination or imaging and treatment


The Role of Imaging for Idiopathic Sensorineural Hearing Loss (SNHL)

n=46 pediatric patients with inner ear n=46 pediatric patients with inner ear anomalies and SNHLanomalies and SNHL

21% patients seen in a multidiscipinary hearing 21% patients seen in a multidiscipinary hearing assessment clinic (1987-1996)assessment clinic (1987-1996)

Most common cochlear abnormalities: cochlear Most common cochlear abnormalities: cochlear hypoplasia and incomplete partitionhypoplasia and incomplete partition

Enlarged vestibular aqueduct most common Enlarged vestibular aqueduct most common radiolographic abnormalityradiolographic abnormality

Park et al. Laryngoscope 2000


The Role of Imaging for Idiopathic Sensorineural Hearing Loss (SNHL)

Identification insight other genetic conditions Identification insight other genetic conditions (e.g. Pendred’s syndrome)(e.g. Pendred’s syndrome)

Certain inner ear anomalies associated with Certain inner ear anomalies associated with progressive sensorineural hearing loss or progressive sensorineural hearing loss or meningitis (e.g. EVA, cochlear hypoplasia)meningitis (e.g. EVA, cochlear hypoplasia)

Early counseling regarding contact sports, Early counseling regarding contact sports, genetic testinggenetic testing


Role of MRI vs CT scan:

ControversialControversial

CT scan – faster to obtain, fewer problems with CT scan – faster to obtain, fewer problems with insurance, bony detailinsurance, bony detail

MRI- assess cochlear nerve (cochlear MRI- assess cochlear nerve (cochlear implantation) implantation)

MRI – more sensitive detection of EVA? MRI – more sensitive detection of EVA?


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 is the role of the geneticist?

What are the key aspects of a genetics evaluation and What are the key aspects of a genetics evaluation and testing?testing?

What is the value of a making a genetic diagnosis?What is the value of a making a genetic diagnosis?


The parents have questions…The parents have questions…

What caused this?What caused this?

Will it happen again?Will it happen again?

Will our child develop other medical problems? Can those Will our child develop other medical problems? Can those problems be treated?problems be treated?

Will my child's hearing loss stay the same or get worse?Will my child's hearing loss stay the same or get worse?

What can we do about it?What can we do about it?


Congenital DeafnessCongenital Deafness


Infant withhearing loss

No knownenvironmental cause

Do confirmatorytesting

No other signs

ENT, audiology,eye examconsider

EKG, CT / MRI

Family history

Do Cx26/Cx30

Known environmental cause, e.g. CMV

If positive:diagnosis

PositivePositive NegativeNegative

Modified from Rudolph’s Pediatrics

Other testing

AD, AR X-linkedCryptogenicHearing loss

Physical anomalies/signs syndrome


Step 1: Is there evidence for Step 1: Is there evidence for acquired hearing loss?acquired hearing loss?

Prematurity (2-5% of NICU graduates)Prematurity (2-5% of NICU graduates) Birth wt <1500g

JaundiceJaundice GentamycinGentamycin Intracranial bleedingIntracranial bleeding ECMOECMO Low APGAR scoresLow APGAR scores

In uteroIn utero infections : CMV, Rubella, toxoplasmosis infections : CMV, Rubella, toxoplasmosis


Step 1: Is there evidence for Step 1: Is there evidence for acquired hearing loss?acquired hearing loss?

Basic screening Labs:Basic screening Labs: Urine/saliva -- culture

Blood -- serology

DNA -- PCR

Further investigation:Further investigation: CT: periventricular

calcifications

Eye exam: CMV chorioretinitis

Univ Toronto, Dept of OphthalmologyUniv Toronto, Dept of Ophthalmology


Step 2: Syndromic or Nonsyndromic?Step 2: Syndromic or Nonsyndromic?

Syndrome:Syndrome: A pattern of multiple primary A pattern of multiple primary malformations (or dysfunctions) resulting from malformations (or dysfunctions) resulting from a single underlying cause.a single underlying cause.

Is this an isolated problem? Or is this an Is this an isolated problem? Or is this an element of a more widespread condition?element of a more widespread condition?


CaseCase

Growth retardationGrowth retardation Squared-shaped auriclesSquared-shaped auricles ColobomaColoboma Cochlear abnormalitiesCochlear abnormalities

CHARGE syndromeCHARGE syndrome

CHD7 mutations in 60%CHD7 mutations in 60%


Case Histories:


CaseCase

SGA, microcephalySGA, microcephaly Atretic ear canalsAtretic ear canals Wide nasal rootWide nasal root Broad foreheadBroad forehead Down turned corners of Down turned corners of

the mouththe mouth

Deletion 18qDeletion 18q

~30% of syndromic cases were ~30% of syndromic cases were chromosomalchromosomal


Step 3: Consider a genetic cause of Step 3: Consider a genetic cause of nonsyndromic hearing lossnonsyndromic hearing loss

15% of all bilateral 15% of all bilateral prelingual hearing loss prelingual hearing loss is caused by mutations is caused by mutations in the GJB2 (Cx26) in the GJB2 (Cx26) genegene

~150 other single gene ~150 other single gene causes of nonsyndromic causes of nonsyndromic hearing losshearing loss

No signs of syndrome

Family history

Do Cx26/Cx30If positive:diagnosis

PositivePositive NegativeNegative

Other testing

AD, AR X-linkedCryptogenicHearing loss


What is gained by a positive What is gained by a positive genetic diagnosis?genetic diagnosis?

Direct (or avoid) further diagnostic testingDirect (or avoid) further diagnostic testing No CT or MRI if Cx26 mutation found

Define recurrence riskDefine recurrence risk Autosomal recessive? Sporadic?

Predict the clinical coursePredict the clinical course Progressive? Associated deficits (blindness) or malformations?


Pendred’s syndrome:

Autosomal recessive condition associated with Autosomal recessive condition associated with SNHL, goiterSNHL, goiter

Gene associated with transport chloride and Gene associated with transport chloride and iodide within the ear and thyroid glandiodide within the ear and thyroid gland

1/3 patients with ELV have mutation for 1/3 patients with ELV have mutation for Pendred syndrome (SLC26A4 gene)Pendred syndrome (SLC26A4 gene)

Risk for progressive SNHL, vestibular Risk for progressive SNHL, vestibular dysfunction and goiterdysfunction and goiter


Distribution of Distribution of CX26 CX26 DeafnessDeafness

NoNo GJB2GJB2 mutations mutations (n=158)(n=158)

GJB2GJB2 mutations mutations (n=66)(n=66)


Prognosis in Prognosis in Cx26Cx26 related deafness related deafness

Little or no progression of hearing lossLittle or no progression of hearing loss

Normal intellectNormal intellect

Good response to cochlear implantationGood response to cochlear implantation


Genetic diagnosis: futureGenetic diagnosis: future

Connecting Connexin26 testing to newborn Connecting Connexin26 testing to newborn metabolic screeningmetabolic screening

Offer genetic testing a broader array of Offer genetic testing a broader array of syndromic and nonsyndromic hearing losssyndromic and nonsyndromic hearing loss


A future deafness screening protocolA future deafness screening protocol

MYO6MYO6ACTG1ACTG1DSPPDSPPTECTATECTAEYA4EYA4MYO7AMYO7ACOL11A2COL11A2POU4F3POU4F3TMC1 TMC1 MYO1AMYO1A

DIAPH1DIAPH1WFS1WFS1GJB3GJB3KCNQ4KCNQ4DFNA5DFNA5MYH9MYH9COCHCOCHTFCP2L3TFCP2L3

SyndromicSyndromicNonsyndromicNonsyndromic

GJB2/GJB6 GJB2/GJB6 TestingTesting Appropriate Gene(s)Appropriate Gene(s)

Family HxFamily Hx No Family HxNo Family Hx

MitochondrialMitochondrial12S rRNA12S rRNAtRNA sertRNA ser

AminoglycosidesAminoglycosides

X-linkedX-linked POU3F4POU3F4

DominantDominant RecessiveRecessiveTMIETMIECDH23CDH23USH1CUSH1COTOAOTOAMYO3AMYO3APCDH15PCDH15WHRNWHRNESPNESPNMYO6MYO6PRESPRES

MYO7AMYO7AMYO15MYO15SLC26A4SLC26A4OTOFOTOFTMPRSS3TMPRSS3TECTATECTACLDN14CLDN14TMCTMCSTRCSTRCGJA1GJA1

Usher SyndromeUsher SyndromeMYO7AMYO7AUSH1CUSH1CCDH23 CDH23 PCDH15PCDH15

SANSSANSUSH2A USH2A VLGR1 VLGR1 USH3USH3

(Courtesy of C. Morton, PhD)(Courtesy of C. Morton, PhD)


Case Histories:

3 mo infant not pass 5 OAE tests3 mo infant not pass 5 OAE tests

Exam notable for bilateral serous otitis mediaExam notable for bilateral serous otitis media

Otherwise healthyOtherwise healthy

Placed ear tubesPlaced ear tubes

Repeat OAEs- normalRepeat OAEs- normal

Child has done well speech and language FU Child has done well speech and language FU 2 years2 years


Case Histories:

7 year old with primary ciliary dysmotility7 year old with primary ciliary dysmotility

s/p t-tube insertions/p t-tube insertion

Chronic otorrhea and moderate conductive Chronic otorrhea and moderate conductive hearing losshearing loss

Problems in schoolProblems in school

Cannot wear hearing aids because of otorrheaCannot wear hearing aids because of otorrhea

Bone anchored hearing aidsBone anchored hearing aids


Bone Anchored Hearing Aids:


Skull bone

Skin and subcutaneous tissue

Implanted titanium fixture

Titanium abutment

Rationale


Follow-up and Skin Status (Papsin et al. 2003)

(N=32 Children, 37 implants) (N=32 Children, 37 implants)

0 0.25 0.5 0.75 1 1.5 2 2.5 3 3.5 4 4.50

10

20

30

40

50

60 Skin Status

Grade 0

Grade 1

Grade 2

Grade 3

Grade 4


Case Histories:

3 mo with periorbital 3 mo with periorbital swelling and swelling and cutaneous lesionscutaneous lesions

Right profound SNHLRight profound SNHL

See ophthalmologySee ophthalmology

MRI t-bone and neckMRI t-bone and neck


Case Histories:


Case Histories:

7 mo old child with moderate to severe SNHL7 mo old child with moderate to severe SNHL

Presented with failed hearing screeningPresented with failed hearing screening

CMV PCR testing – normalCMV PCR testing – normal

Exam- serous otitis mediaExam- serous otitis media

Temporal bone CT scan Temporal bone CT scan


Case Histories:


Operculum MidpointOperculum Midpoint

ABA = B

Tangent line

90O angle

From Greinwald (2006)


Enlarged Vestibular AqueductEnlarged Vestibular Aqueduct

• EVA definition (>97.5%)EVA definition (>97.5%)• Abnormal-Midpoint->1.0mm

• Operculum->2.0mm

• (from Greinwald et al. 2006)(from Greinwald et al. 2006)


Efficacy of Steroids for Progressive SNHL associated with EVA:

Lin et alLin et al. – prednisolone for EVA progressive . – prednisolone for EVA progressive SNHL.SNHL.

11/13 patients responded to steroids11/13 patients responded to steroids

Grimmer et al.Grimmer et al.

8/12 w LVA responded to steroid therapy8/12 w LVA responded to steroid therapy


Case Histories:

Blood test to University of Iowa positive Blood test to University of Iowa positive SLC26A4 (Pendred syndrome)SLC26A4 (Pendred syndrome)

Hearing thresholds have been stable x 3 mo.Hearing thresholds have been stable x 3 mo.


Conclusion:Conclusion:

Insight into exciting and evolving fieldInsight into exciting and evolving field

Multidisciplinary clinic for HAC helpfulMultidisciplinary clinic for HAC helpful

Role of team membersRole of team members

Important to understand nuances of newborn Important to understand nuances of newborn hearing loss- audiologic tests, genetic and hearing loss- audiologic tests, genetic and imaging optionsimaging options

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