Multidisciplinary Hearing Assessment Clinic in Utah: Rationale and Preliminary Outcomes

1. 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. 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

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 (2000-2004) • Audiology database @ 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:

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 information @ 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 (1987-1996) • 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

41. 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

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 • 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

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