Development of a Multidisciplinary Hearing Assessment Clinic in

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

Evaluation and Management of Pediatric Hearing Loss u Emphasis on Screening of Newborns u What to do when a child does not pass screening? u Parental perspective of the evaluation u Rationale for Multidisciplinary clinic u Role of Geneticist u Role or Audiologist u Role of Otolaryngologist u Case Presentations Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

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, Ph. D Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Otolaryngology-HNS journal 2006

Materials and Methods: u. All pediatric SNHL pts (2000 -2004) u. Audiology database @ PCMC u. Only 30 level peds center Utah u. Survey query experiences with testing and rx Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

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

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

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

Results: Status Newborn Screening Not passed Age of Diagnosis of Hearing Loss [mo] 7. 1± 12. 6 Not Know 42. 0 ± 29. 8 Passed 26. 8 ± 17. 9 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

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

Results: u Primary Care Physician (PCP) involvement mixed u 22. 4% PCP not aware Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

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

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

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

Results: u Steps to dx child’s hearing loss difficult? u 60% families – process difficult u Desire more information u Importance not be intimidated u Importance early rx u Need for streamlined process u Desire for parental network Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

Discussion: u. Utah Newborn Screening Program-successful u> 98% 28, 037 newborns born this yr tested u. Initial state pass rate 93% u. Utah Dept Health- responsible data collection and management Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

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

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

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

n i s e g n e tric l l a ia gy h C ed iolo P d u A Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

The Role of the Pediatric Audiologist u. Challenges in pediatric audiology u Impact of Diagnosis on family u Impact of hearing loss on the child u Testing u Communication with other professionals u Geography Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

The Role of the Pediatric Audiologist u. Challenges in pediatric audiology u Impact of Diagnosis on family u. Impact of hearing loss on the child u. Testing u. Communication with other professionals u. Geography Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

The Role of the Pediatric Audiologist u. Impact of Diagnosis on the family u Diagnosis is new information for the families u Families identified through newborn hearing screening have usually not had indications from the child that they are not hearing Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

The Role of the Pediatric Audiologist u At the time of diagnosis the family often stops hearing after they learn that their child has a hearing loss u The family may not hear information u The family may misunderstand details provided because of the newness and unfamiliarity of hearing loss u The amount of information regarding hearing loss and rehabilitation is overwhelming, but must be found first. Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

The Role of the Pediatric Audiologist u. Challenges in pediatric audiology u Impact of Diagnosis on family u Impact of hearing loss on the child u Testing u Communication with other professionals u Geography Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

The Role of the Pediatric Audiologist u. Impact of hearing loss on the child u Hearing loss can potentially affect communication, education, socialization, and employment u Goal is to aid children as quickly as possible to support the acquisition of spoken language Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

The Role of the Pediatric Audiologist u. Challenges in pediatric audiology u Impact of Diagnosis on family u Impact of hearing loss on the child u Testing u Communication with other professionals u Geography Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

The Role of the Pediatric Audiologist u Testing u Diagnosis of hearing loss in children is accomplished using a battery of tests and repeatable test results u Even with a cooperative child, diagnosis of hearing loss is not accomplished off of only one test or one set of test results u Non-participatory children will require multiple visits Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

The Role of the Pediatric Audiologist u. Challenges in pediatric audiology u Impact of Diagnosis on family u Impact of hearing loss on the child u Testing u Communication with other professionals u Geography Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

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

The Role of the Pediatric Audiologist u. Challenges in pediatric audiology u Impact of Diagnosis on family u Impact of hearing loss on the child u Testing u Communication with other professionals u Geography Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

The Role of the Pediatric Audiologist u. Geography u Patients often have to travel distances • To have access to many professionals at once eases the burden and cost of care on the family u Some patients may not have access to a managing audiologist, the HAC audiologist may be their only resource Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

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

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

The Role of Imaging for Idiopathic Sensorineural Hearing Loss (SNHL) u n=46 pediatric patients with inner ear anomalies and SNHL u 21% patients seen in a multidiscipinary hearing assessment clinic (1987 -1996) u. Most common cochlear abnormalities: cochlear hypoplasia and incomplete partition u. Enlarged vestibular aqueduct most common radiolographic abnormality Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Park et al. Laryngoscope 2000

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

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

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

The Role of the Geneticist in HAC: u What is the role of the geneticist? u What are the key aspects of a genetics evaluation and testing? u What is the value of a making a genetic diagnosis? Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

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

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

Infant with hearing loss Known environmental cause, e. g. CMV ENT, audiology, eye exam consider EKG, CT / MRI No known environmental cause Physical anomalies/ signs syndrome No other signs If positive: diagnosis Do Cx 26/Cx 30 Family history Positive AD, AR Negative X-linked Cryptogenic Hearing loss Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Do confirmatory testing Other testing Modified from Rudolph’s Pediatrics

Step 1: Is there evidence for acquired hearing loss? u Prematurity (2 -5% of NICU graduates) u. Birth wt <1500 g u Jaundice u Gentamycin u Intracranial bleeding u ECMO u Low APGAR scores u In utero infections : CMV, Rubella, toxoplasmosis Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

Step 1: Is there evidence for acquired hearing loss? u Basic screening Labs: u Urine/saliva -- culture u Blood -- serology u DNA -- PCR u Further investigation: u CT: periventricular calcifications u Eye exam: CMV chorioretinitis Univ Toronto, Dept of Ophthalmology Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

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

Case u Growth retardation u Squared-shaped auricles u Coloboma u Cochlear abnormalities u CHARGE syndrome u CHD 7 mutations in 60% Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

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

Case u SGA, microcephaly u Atretic ear canals u Wide nasal root u Broad forehead u Down turned corners of the mouth u Deletion 18 q u ~30% of syndromic cases were chromosomal Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

Step 3: Consider a genetic cause of nonsyndromic hearing loss No signs of syndrome If positive: diagnosis Do Cx 26/Cx 30 u 15% of all bilateral prelingual hearing loss is caused by mutations in the GJB 2 (Cx 26) gene Family history Positive AD, AR Negative X-linked Cryptogenic Hearing loss u ~150 other single gene causes of nonsyndromic hearing loss Other testing Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

What is gained by a positive genetic diagnosis? u Direct (or avoid) further diagnostic testing u No CT or MRI if Cx 26 mutation found u Define recurrence risk u Autosomal recessive? Sporadic? u Predict the clinical course u Progressive? u Associated deficits (blindness) or malformations? Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

Pendred’s syndrome: u. Autosomal recessive condition associated with SNHL, goiter u. Gene associated with transport chloride and iodide within the ear and thyroid gland u 1/3 patients with ELV have mutation for Pendred syndrome (SLC 26 A 4 gene) u. Risk for progressive SNHL, vestibular dysfunction and goiter Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

Distribution of CX 26 Deafness GJB 2 mutations (n=66) No GJB 2 mutations (n=158) Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

Prognosis in Cx 26 related deafness u. Little or no progression of hearing loss u. Normal intellect u. Good response to cochlear implantation Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

Genetic diagnosis: future u. Connecting Connexin 26 testing to newborn metabolic screening u. Offer genetic testing a broader array of syndromic and nonsyndromic hearing loss Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

A future deafness screening protocol Nonsyndromic Syndromic GJB 2/GJB 6 Testing Aminoglycosides Mitochondrial 12 S r. RNA t. RNA ser Family Hx X-linked POU 3 F 4 (Courtesy of C. Morton, Ph. D) No Family Hx Dominant MYO 6 ACTG 1 DSPP TECTA EYA 4 MYO 7 A COL 11 A 2 POU 4 F 3 TMC 1 MYO 1 A Appropriate Gene(s) DIAPH 1 WFS 1 GJB 3 KCNQ 4 DFNA 5 MYH 9 COCH TFCP 2 L 3 Usher Syndrome MYO 7 A SANS USH 1 C USH 2 A CDH 23 VLGR 1 PCDH 15 USH 3 Recessive MYO 7 A TMIE MYO 15 CDH 23 SLC 26 A 4 USH 1 C OTOF OTOA TMPRSS 3 MYO 3 A TECTA PCDH 15 CLDN 14 WHRN TMC ESPN Division of Otolaryngology Neck Surgery, University of STRC~ Head & MYO 6 GJA 1 PRES Utah

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

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

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

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

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

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

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

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

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

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

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

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

Enlarged Vestibular Aqueduct • EVA definition (>97. 5%) • • • Abnormal-Midpoint->1. 0 mm Operculum->2. 0 mm (from Greinwald et al. 2006) Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

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

Case Histories: u Blood test to University of Iowa positive SLC 26 A 4 (Pendred syndrome) u. Hearing thresholds have been stable x 3 mo. Division of Otolaryngology ~ Head & Neck Surgery, University of Utah

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