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Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Development of a Multidisciplinary Hearing Assessment Clinic in Utah: The Rationale.

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Presentation on theme: "Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Development of a Multidisciplinary Hearing Assessment Clinic in Utah: The Rationale."— Presentation transcript:

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

2 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Evaluation and Management of Pediatric Hearing Loss Emphasis on Screening of Newborns Emphasis 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 clinic Rationale for Multidisciplinary clinic Role of Geneticist Role of Geneticist Role or Audiologist Role or Audiologist Role of Otolaryngologist Role of Otolaryngologist Case Presentations Case Presentations

3 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah A Survey of Parental Views Regarding Their Childs Hearing Loss Albert H. Park, MD; Jonathon Warner, BS; Nanette Sturgill, MS, CCC-A; Stephen Alder, PhD Otolaryngology-HNS journal 2006

4 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Materials and Methods: All pediatric SNHL pts ( ) All pediatric SNHL pts ( ) Audiology PCMC Audiology PCMC Only 3 0 level peds center Utah Only 3 0 level peds center Utah Survey query experiences with testing and rx Survey query experiences with testing and rx

5 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Methods and Materials: N=389 surveys mailed SNHL families N=389 surveys mailed SNHL families 113 families responded 113 families responded 1 family requested not to be included 1 family requested not to be included 4 patients later found normal hearing 4 patients later found normal hearing 108 respondents basis study 108 respondents basis study

6 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Methods and Materials: Patient population: Patient population: Some identified via newborn screening Some identified via newborn screening Some identified later childhood Some identified later childhood Statistical analysis when indicated Statistical analysis when indicated Approval obtained UU IRB Approval obtained UU IRB

7 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Results: Distribution of patients based screening Distribution of patients based screening 61% not pass screening 61% not pass screening 23% passed screening 23% passed screening 13% did not know results screening

8 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Results: Information for No Pass Group Information for No Pass Group Audiology and Labor/delivery (L+D) most helpful Audiology and Labor/delivery (L+D) most helpful >15% no one provided information >15% no one provided information

10 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Results: Primary Care Physician (PCP) involvement mixed Primary Care Physician (PCP) involvement mixed 22.4% PCP not aware 22.4% PCP not aware

11 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Results: Reasons for delay diagnosis Reasons for delay diagnosis Difficulty audio. apt Difficulty audio. apt Multiple tests (test) Multiple tests (test) Difficulty getting referral from PCP (refer) Difficulty getting referral from PCP (refer) Poor medical advice (advice) Poor medical advice (advice)

12 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Results: Significant % underwent 4 or more tests Significant % underwent 4 or more tests

13 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Results: 62% families using hearing aids – difficulty obtaining the aids 62% families using hearing aids – difficulty obtaining the aids Thirty-one patients underwent cochlear implantation Thirty-one patients underwent cochlear implantation 58% families using cochlear implants – difficulty obtaining devices 58% families using cochlear implants – difficulty obtaining devices

14 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Results: Steps to dx childs hearing loss difficult? Steps to dx childs hearing loss difficult? 60% families – process difficult 60% 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 process Need for streamlined process Desire for parental network Desire for parental network

15 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Discussion: Utah Newborn Screening Program-successful Utah 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 and management Utah Dept Health- responsible data collection and management

16 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Discussion: Significant degree parental frustration and obstacles Significant degree parental frustration and obstacles 15% comments no newborn screening 15% comments no newborn screening 22% PCPs not aware hearing loss 22% PCPs not aware hearing loss Delays in diagnosis- apt, testing, referral problems Delays in diagnosis- apt, testing, referral problems Multiple tests Multiple tests

17 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Discussion: Hearing Assessment Clinic (HAC): Hearing Assessment Clinic (HAC): Provide resources for evaluation and rx Provide resources for evaluation and rx Multidisciplinary Multidisciplinary Genetics, pediatric audiology and otolaryngology Genetics, pediatric audiology and otolaryngology Close communication with primary care and outside audiologists Close communication with primary care and outside audiologists

18 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 audiologist Resource for audiologist Repeat testing as necessary Facilitate communication with the physicians Resource for referring physicians Resource for referring physicians

19 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Challenges in Pediatric Audiology

20 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah The Role of the Pediatric Audiologist 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

21 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah The Role of the Pediatric Audiologist 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

22 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah The Role of the Pediatric Audiologist Impact of Diagnosis on the family 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 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah The Role of the Pediatric Audiologist 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

25 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah The Role of the Pediatric Audiologist Impact of hearing loss on the child 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 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah The Role of the Pediatric Audiologist 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

27 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah The Role of the Pediatric Audiologist Testing Testing Diagnosis of hearing loss in children is accomplished using a battery of tests and repeatable test results 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 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 Non-participatory children will require multiple visits

28 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah The Role of the Pediatric Audiologist 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

29 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah The Role of the Pediatric Audiologist Communication with other professionals Communication with other professionals Sometimes it is very difficult to catch-up with the ENT and other physicians to communicate concerns/results Sometimes it is very difficult to catch-up with the ENT and other physicians to communicate concerns/results

30 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah The Role of the Pediatric Audiologist 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

31 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah The Role of the Pediatric Audiologist Geography 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 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah The Role of the Pediatric Audiologist Resource for parent Resource for parent Review test results Review implications of hearing loss Referral source Rehabilitation recommendations/discussion Resource for audiologist Resource for audiologist Repeat testing as necessary Facilitate communication with the physicians Resource for referring physician Resource for referring physician

33 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah The Role of the Otolaryngologist in HAC: Evolving Evolving Detection and treatment of middle ear pathology Detection and treatment of middle ear pathology Seeing patients younger age Seeing patients younger age Involved diagnostic testing Involved diagnostic testing Involved coordination or imaging and treatment Involved coordination or imaging and treatment

34 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah The Role of Imaging for Idiopathic Sensorineural Hearing Loss (SNHL) n=46 pediatric patients with inner ear anomalies and SNHL n=46 pediatric patients with inner ear anomalies and SNHL 21% patients seen in a multidiscipinary hearing assessment clinic ( ) 21% patients seen in a multidiscipinary hearing assessment clinic ( ) Most common cochlear abnormalities: cochlear hypoplasia and incomplete partition Most common cochlear abnormalities: cochlear hypoplasia and incomplete partition Enlarged vestibular aqueduct most common radiolographic abnormality Enlarged vestibular aqueduct most common radiolographic abnormality Park et al. Laryngoscope 2000

35 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah The Role of Imaging for Idiopathic Sensorineural Hearing Loss (SNHL) Identification insight other genetic conditions (e.g. Pendreds syndrome) Identification insight other genetic conditions (e.g. Pendreds syndrome) Certain inner ear anomalies associated with progressive sensorineural hearing loss or meningitis (e.g. EVA, cochlear hypoplasia) Certain inner ear anomalies associated with progressive sensorineural hearing loss or meningitis (e.g. EVA, cochlear hypoplasia) Early counseling regarding contact sports, genetic testing Early counseling regarding contact sports, genetic testing

36 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Role of MRI vs CT scan: Controversial Controversial CT scan – faster to obtain, fewer problems with insurance, bony detail CT scan – faster to obtain, fewer problems with insurance, bony detail MRI- assess cochlear nerve (cochlear implantation) MRI- assess cochlear nerve (cochlear implantation) MRI – more sensitive detection of EVA? MRI – more sensitive detection of EVA?

37 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Role of MRI vs CT scan: From Greinwald (2006)

38 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 testing? What are the key aspects of a genetics evaluation and testing? What is the value of a making a genetic diagnosis? What is the value of a making a genetic diagnosis?

39 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah The parents have questions… uWhat caused this? uWill it happen again? uWill our child develop other medical problems? Can those problems be treated? uWill my child's hearing loss stay the same or get worse? uWhat can we do about it?

40 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Congenital Deafness

41 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Infant with hearing loss No known environmental cause Do confirmatory testing No other signs ENT, audiology, eye exam consider EKG, CT / MRI Family history Do Cx26/Cx30 Known environmental cause, e.g. CMV If positive: diagnosis PositiveNegative Modified from Rudolphs Pediatrics Other testing AD, AR X-linked Cryptogenic Hearing loss Physical anomalies/ signs syndrome

42 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Step 1: Is there evidence for acquired hearing loss? uPrematurity (2-5% of NICU graduates) uBirth wt <1500g uJaundice uGentamycin uIntracranial bleeding uECMO uLow APGAR scores uIn utero infections : CMV, Rubella, toxoplasmosis

43 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Step 1: Is there evidence for acquired hearing loss? uBasic screening Labs: uUrine/saliva -- culture uBlood -- serology uDNA -- PCR uFurther investigation: uCT: periventricular calcifications uEye exam: CMV chorioretinitis Univ Toronto, Dept of Ophthalmology

44 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Step 2: Syndromic or Nonsyndromic? uSyndrome: A pattern of multiple primary malformations (or dysfunctions) resulting from a single underlying cause. uIs this an isolated problem? Or is this an element of a more widespread condition?

45 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Case uGrowth retardation uSquared-shaped auricles uColoboma uCochlear abnormalities uCHARGE syndrome uCHD7 mutations in 60%

46 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Case Histories:

47 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Case uSGA, microcephaly uAtretic ear canals uWide nasal root uBroad forehead uDown turned corners of the mouth uDeletion 18q u~30% of syndromic cases were chromosomal

48 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 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 ~150 other single gene causes of nonsyndromic hearing loss No signs of syndrome Family history Do Cx26/Cx30 If positive: diagnosis PositiveNegative Other testing AD, AR X-linked Cryptogenic Hearing loss

49 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah What is gained by a positive genetic diagnosis? Direct (or avoid) further diagnostic testing Direct (or avoid) further diagnostic testing No CT or MRI if Cx26 mutation found Define recurrence risk Define recurrence risk Autosomal recessive? Sporadic? Predict the clinical course Predict the clinical course Progressive? Associated deficits (blindness) or malformations?

50 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Pendreds syndrome: Autosomal recessive condition associated with SNHL, goiter Autosomal recessive condition associated with SNHL, goiter Gene associated with transport chloride and iodide within the ear and thyroid gland 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) 1/3 patients with ELV have mutation for Pendred syndrome (SLC26A4 gene) Risk for progressive SNHL, vestibular dysfunction and goiter Risk for progressive SNHL, vestibular dysfunction and goiter

51 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Distribution of CX26 Deafness No GJB2 mutations (n=158) GJB2 mutations (n=66)

52 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Prognosis in Cx26 related deafness Little or no progression of hearing loss Little or no progression of hearing loss Normal intellect Normal intellect Good response to cochlear implantation Good response to cochlear implantation

53 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Genetic diagnosis: future Connecting Connexin26 testing to newborn metabolic screening Connecting Connexin26 testing to newborn metabolic screening Offer genetic testing a broader array of syndromic and nonsyndromic hearing loss Offer genetic testing a broader array of syndromic and nonsyndromic hearing loss

54 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah A future deafness screening protocol MYO6ACTG1DSPPTECTAEYA4MYO7ACOL11A2POU4F3TMC1MYO1ADIAPH1WFS1GJB3KCNQ4DFNA5MYH9COCHTFCP2L3SyndromicNonsyndromic GJB2/GJB6 Testing Appropriate Gene(s) Family Hx No Family Hx Mitochondrial 12S rRNA tRNA ser Aminoglycosides X-linked POU3F4 POU3F4DominantRecessive TMIECDH23USH1COTOAMYO3APCDH15WHRNESPNMYO6PRESMYO7AMYO15SLC26A4OTOFTMPRSS3TECTACLDN14TMCSTRCGJA1 Usher Syndrome MYO7AUSH1CCDH23PCDH15 SANSUSH2AVLGR1USH3 (Courtesy of C. Morton, PhD)

55 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Case Histories: 3 mo infant not pass 5 OAE tests 3 mo infant not pass 5 OAE tests Exam notable for bilateral serous otitis media Exam notable for bilateral serous otitis media Otherwise healthy Otherwise healthy Placed ear tubes Placed ear tubes Repeat OAEs- normal Repeat OAEs- normal Child has done well speech and language FU 2 years Child has done well speech and language FU 2 years

56 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Case Histories: 7 year old with primary ciliary dysmotility 7 year old with primary ciliary dysmotility s/p t-tube insertion s/p t-tube insertion Chronic otorrhea and moderate conductive hearing loss Chronic otorrhea and moderate conductive hearing loss Problems in school Problems in school Cannot wear hearing aids because of otorrhea Cannot wear hearing aids because of otorrhea Bone anchored hearing aids Bone anchored hearing aids

57 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Bone Anchored Hearing Aids:

58 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Bone Anchored Hearing Aids:

59 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Skull bone Skin and subcutaneous tissue Implanted titanium fixture Titanium abutment Rationale

60 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Follow-up and Skin Status (Papsin et al. 2003)

61 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Case Histories: 3 mo with periorbital swelling and cutaneous lesions 3 mo with periorbital swelling and cutaneous lesions Right profound SNHL Right profound SNHL See ophthalmology See ophthalmology MRI t-bone and neck MRI t-bone and neck

62 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Case Histories:

63 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Case Histories:

64 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Case Histories: 7 mo old child with moderate to severe SNHL 7 mo old child with moderate to severe SNHL Presented with failed hearing screening Presented with failed hearing screening CMV PCR testing – normal CMV PCR testing – normal Exam- serous otitis media Exam- serous otitis media Temporal bone CT scan Temporal bone CT scan

65 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Case Histories:

66 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Operculum Midpoint A B A = B Tangent line 90 O angle From Greinwald (2006)

67 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Enlarged 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)

68 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Efficacy of Steroids for Progressive SNHL associated with EVA: Lin et al. – prednisolone for EVA progressive SNHL. Lin et al. – prednisolone for EVA progressive SNHL. 11/13 patients responded to steroids 11/13 patients responded to steroids Grimmer et al. Grimmer et al. 8/12 w LVA responded to steroid therapy 8/12 w LVA responded to steroid therapy

69 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Case Histories: Blood test to University of Iowa positive SLC26A4 (Pendred syndrome) Blood test to University of Iowa positive SLC26A4 (Pendred syndrome) Hearing thresholds have been stable x 3 mo. Hearing thresholds have been stable x 3 mo.

70 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Conclusion: Insight into exciting and evolving field Insight into exciting and evolving field Multidisciplinary clinic for HAC helpful Multidisciplinary clinic for HAC helpful Role of team members Role of team members Important to understand nuances of newborn hearing loss- audiologic tests, genetic and imaging options Important to understand nuances of newborn hearing loss- audiologic tests, genetic and imaging options


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