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

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.

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

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

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

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

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

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

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

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

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

Results: Significant % underwent 4 or more tests

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

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

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

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

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

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

Challenges in Pediatric Audiology

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

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

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

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.

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

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

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

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

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

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

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

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

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

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

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

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

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?

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

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?

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?

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.

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

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

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

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?

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

Case Histories:

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

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

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?

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

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)

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

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

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)

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

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

Bone Anchored Hearing Aids:

Bone Anchored Hearing Aids:

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

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

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

Case Histories:

Case Histories:

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

Case Histories:

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

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

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

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

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