1. Development of a Multidisciplinary Hearing Assessment Clinic in Utah: The Rationale and Preliminary Outcomes
Thank audience
Acknowledge – pediatric otolaryngology committee…
Members of the panel – recognized experts in the field of newborn hearing loss.
Purpose
Albert H. Park, MD; Steve Bleyl, MD; John Carey, MD; Cache Pitt, MS, CCC-A

2. 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
Purpose of this presentation to shift focus of the screening of newborns with hearing loss to the diagnosis and treatment of these patients. I will start by discussing parental perception to the diagnosis and treatment of their children in Utah, the rationale for our multidisciplinary clinid, the role of the key members and some case presentations.

3. 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

4. Materials and Methods:
All pediatric SNHL pts ( )
Audiology PCMC
Only 30 level peds center Utah
Survey query experiences with testing and rx

5. 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

6. Methods and Materials:
Patient population:
Some identified via newborn screening
Some identified later childhood
Statistical analysis when indicated
Approval obtained UU IRB

7. Results: Distribution of patients based screening
61% not pass screening
23% passed screening
13% did not know results screening

8. Results: Status Newborn Screening
Age of Diagnosis of Hearing Loss [mo]
Not passed
7.1± 12.6
Not Know
42.0 ± 29.8
Passed
26.8 ± 17.9

9. Results: Information for No Pass Group
Audiology and Labor/delivery (L+D) most helpful
>15% no one provided information

10. Results: Primary Care Physician (PCP) involvement mixed
22.4% PCP not aware

11. Results: Reasons for delay diagnosis Difficulty audio. apt
Multiple tests (test)
Difficulty getting referral from PCP (refer)
Poor medical advice (advice)

12. Results:
Significant % underwent 4 or more tests

13. Results:
62% families using hearing aids – difficulty obtaining the aids
Thirty-one patients underwent cochlear implantation
58% families using cochlear implants – difficulty obtaining devices

14. 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

15. 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

16. Discussion: Significant degree parental frustration and obstacles
15% comments no newborn screening
22% PCPs not aware hearing loss
Delays in diagnosis- apt, testing, referral problems
Multiple tests

17. 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

18. 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

19. Challenges in Pediatric Audiology

20. 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

21. 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

22. 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

23. 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.

24. 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

25. 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

26. 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

27. 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

28. 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

29. 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

30. 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

31. 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

32. 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

33. 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

34. 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 ( )
Most common cochlear abnormalities: cochlear hypoplasia and incomplete partition
Enlarged vestibular aqueduct most common radiolographic abnormality
Park et al. Laryngoscope 2000

35. 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

36. 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?

37. Role of MRI vs CT scan:
From Greinwald (2006)

38. 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?

39. 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?

40. Congenital Deafness
If we consider congenital deafness again, the most common genetic cause is due to mutations at a DFNB1 locus in the gene called GJB2.

41. Infant with ENT, audiology, hearing loss 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

42. 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

43. 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

44. 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?

45. Case Growth retardation Squared-shaped auricles Coloboma
Cochlear abnormalities
CHARGE syndrome
CHD7 mutations in 60%

46. Case Histories:

47. 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

48. Step 3: Consider a genetic cause of nonsyndromic hearing loss
No signs of syndrome
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
If positive:
diagnosis
Do Cx26/Cx30
Family history
Positive
Negative
Cryptogenic
Hearing loss
AD, AR
X-linked
Other testing

49. 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?

50. 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

51. Distribution of CX26 Deafness
This shows the spectrum of hearing loss in persons with GJB2 related deafness. You can see that more often than not the hearing loss is severe to profound in degree.
GJB2 mutations
(n=66)
No GJB2 mutations
(n=158)

52. Prognosis in Cx26 related deafness
Little or no progression of hearing loss
Normal intellect
Good response to cochlear implantation

53. Genetic diagnosis: future
Connecting Connexin26 testing to newborn metabolic screening
Offer genetic testing a broader array of syndromic and nonsyndromic hearing loss

54. A future deafness screening protocol
MYO6
ACTG1
DSPP
TECTA
EYA4
MYO7A
COL11A2
POU4F3
TMC1
MYO1A
DIAPH1
WFS1
GJB3
KCNQ4
DFNA5
MYH9
COCH
TFCP2L3
Syndromic
Nonsyndromic
GJB2/GJB6 Testing
Appropriate Gene(s)
Family Hx
No Family Hx
Mitochondrial
12S rRNA
tRNA ser
Aminoglycosides
X-linked
POU3F4
Dominant
Recessive
TMIE
CDH23
USH1C
OTOA
MYO3A
PCDH15
WHRN
ESPN
PRES
MYO15
SLC26A4
OTOF
TMPRSS3
CLDN14
TMC
STRC
GJA1
Usher Syndrome
SANS
USH2A
VLGR1
USH3
(Courtesy of C. Morton, PhD)

55. 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

56. 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

57. Bone Anchored Hearing Aids:

58. Bone Anchored Hearing Aids:

59. Rationale Skull bone Skin and subcutaneous tissue
Implanted titanium fixture
Titanium abutment

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

61. Case Histories: 3 mo with periorbital swelling and cutaneous lesions
Right profound SNHL
See ophthalmology
MRI t-bone and neck

62. Case Histories:

63. Case Histories:

64. 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

65. Case Histories:

66. Operculum Midpoint From Greinwald (2006) B A Tangent line A = B
90O angle A B
A = B
From Greinwald (2006)

67. Enlarged Vestibular Aqueduct
EVA definition (>97.5%)
Abnormal-Midpoint->1.0mm
Operculum->2.0mm
(from Greinwald et al. 2006)

68. 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

69. Case Histories:
Blood test to University of Iowa positive SLC26A4 (Pendred syndrome)
Hearing thresholds have been stable x 3 mo.

70. 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