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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 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 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, PhD Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Methods and Materials: Patient population: Some identified via newborn screening Some identified later childhood Statistical analysis when indicated Approval obtained UU IRB Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Results: Distribution of patients based screening 23% passed screening 13% did not know results screening 70 Percent of Patients 61% not pass screening Newborn Screening Results 60 50 not passed 40 passed 30 not know 20 not done 10 0 not passed passed not know not done Screening categories 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: Information for No Pass Group >15% no one provided information 40 35 Percent Patients Audiology and Labor/delivery (L+D) most helpful Informants for No Pass Group 30 Audio 25 L+D 20 ? 15 No one 10 Other 5 0 Audio L+D ? No one Other Informants Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Results: Primary Care Physician (PCP) involvement mixed 80 70 Percent Patients 22.4% PCP not aware PCP involved in Hearing Evaluation? 60 50 not know 40 no 30 yes 20 10 0 not know no yes PCP involved? Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Results: Reasons for delay diagnosis Reasons for Delay in Diagnosis Difficulty audio. apt Difficulty getting referral from PCP (refer) Poor medical advice (advice) Percent Patients Multiple tests (test) 30 25 20 15 Reasons for Delay 10 5 0 apt test refer advice Reasons for Delay Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Results: Significant % underwent 4 or more tests Number of Tests Prior to Diagnosis 40 Percent Patients 35 30 25 20 Passed Screen Not Passed Screen 15 10 5 0 1 2 3 Number of Tests Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 4 >4 Results: 62% families using hearing aids – difficulty obtaining the aids Thirty-one patients underwent cochlear implantation 58% families using cochlear implants – difficulty obtaining devices Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 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. Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 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 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 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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? 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: 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? Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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? 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 Cx26/Cx30 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? Prematurity (2-5% of NICU graduates) Birth wt <1500g Jaundice Gentamycin Intracranial bleeding ECMO Low APGAR scores In utero infections : CMV, Rubella, toxoplasmosis Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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? Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Case Growth retardation Squared-shaped auricles Coloboma Cochlear abnormalities CHARGE syndrome CHD7 mutations in 60% Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Case Histories: Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 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 Cx26/Cx30 Family history Positive AD, AR 15% of all bilateral prelingual hearing loss is caused by mutations in the GJB2 (Cx26) gene Negative X-linked Cryptogenic Hearing loss ~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? 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? Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah ild-mod Distribution of CX26 Deafness 2% 30% 2% 14% 19% 15% 14% 30% 3% 3% 8% 16% 8% 22% 21% 43% mod 7% GJB2 mutations mod-sev sev (n=66) sev-prof No GJB2 mutations (n=158) prof 43% Division of Otolaryngology ~ Head & Neck Surgery, University of Utah mild-mod mod mod-sev sev sev-prof prof Prognosis in Cx26 related deafness Little or no progression of hearing loss Normal intellect Good response to cochlear implantation Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Genetic diagnosis: future Connecting Connexin26 testing to newborn metabolic screening 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 GJB2/GJB6 Testing Aminoglycosides Mitochondrial 12S rRNA tRNA ser Family Hx X-linked POU3F4 (Courtesy of C. Morton, PhD) Appropriate Gene(s) No Family Hx Dominant MYO6 ACTG1 DSPP TECTA EYA4 MYO7A COL11A2 POU4F3 TMC1 MYO1A Usher Syndrome MYO7A SANS USH1C USH2A CDH23 VLGR1 PCDH15 USH3 Recessive DIAPH1 WFS1 GJB3 KCNQ4 DFNA5 MYH9 COCH TFCP2L3 MYO7A TMIE MYO15 CDH23 SLC26A4 USH1C OTOF OTOA TMPRSS3 MYO3A TECTA PCDH15 CLDN14 WHRN TMC ESPN Division of Otolaryngology Neck Surgery, University of STRC~ Head & MYO6 GJA1 PRES Utah 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 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 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: 3 mo with periorbital swelling and cutaneous lesions Right profound SNHL See ophthalmology 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: 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 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Case Histories: Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Operculum Midpoint A B 90O angle From Greinwald (2006) Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Enlarged Vestibular Aqueduct • EVA definition (>97.5%) • Abnormal-Midpoint->1.0mm • Operculum->2.0mm • (from Greinwald et al. 2006) 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. 11/13 patients responded to steroids Grimmer et al. 8/12 w LVA responded to steroid therapy Division of Otolaryngology ~ Head & Neck Surgery, University of Utah Case Histories: Blood test to University of Iowa positive SLC26A4 (Pendred syndrome) Hearing thresholds have been stable x 3 mo. Division of Otolaryngology ~ Head & Neck Surgery, University of Utah 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 Division of Otolaryngology ~ Head & Neck Surgery, University of Utah
