Presentation on theme: "Development of a Multidisciplinary Hearing Assessment Clinic in Utah: The Rationale and Preliminary Outcomes Thank audience Acknowledge – pediatric otolaryngology."— Presentation transcript:
1 Development of a Multidisciplinary Hearing Assessment Clinic in Utah: The Rationale and Preliminary OutcomesThank audienceAcknowledge – pediatric otolaryngology committee…Members of the panel – recognized experts in the field of newborn hearing loss.PurposeAlbert 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 NewbornsWhat to do when a child does not pass screening?Parental perspective of the evaluationRationale for Multidisciplinary clinicRole of GeneticistRole or AudiologistRole of OtolaryngologistCase PresentationsPurpose 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.
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, PhDOtolaryngology-HNS journal 2006
4 Materials and Methods: All pediatric SNHL pts ( )Audiology PCMCOnly 30 level peds center UtahSurvey query experiences with testing and rx
5 Methods and Materials: N=389 surveys mailed SNHL families113 families responded1 family requested not to be included4 patients later found normal hearing108 respondents basis study
6 Methods and Materials: Patient population:Some identified via newborn screeningSome identified later childhoodStatistical analysis when indicatedApproval obtained UU IRB
7 Results: Distribution of patients based screening 61% not pass screening23% passed screening13% did not know results screening
8 Results: Status Newborn Screening Age of Diagnosis of Hearing Loss [mo]Not passed7.1± 12.6Not Know42.0 ± 29.8Passed26.8 ± 17.9
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 aidsThirty-one patients underwent cochlear implantation58% families using cochlear implants – difficulty obtaining devices
14 Results: Steps to dx child’s hearing loss difficult? 60% families – process difficultDesire more informationImportance not be intimidatedImportance early rxNeed for streamlined processDesire for parental network
15 Discussion: Utah Newborn Screening Program-successful > 98% 28,037 newborns born this yr testedInitial state pass rate 93%Utah Dept Health- responsible data collection and management
16 Discussion: Significant degree parental frustration and obstacles 15% comments no newborn screening22% PCPs not aware hearing lossDelays in diagnosis- apt, testing, referral problemsMultiple tests
17 Discussion: Hearing Assessment Clinic (HAC): Provide resources for evaluation and rxMultidisciplinaryGenetics, pediatric audiology and otolaryngologyClose communication with primary care and outside audiologists
18 The Role of the Pediatric Audiologist Resource for parentReview test resultsReview implications of hearing lossReferral sourceRehabilitation recommendationsResource for audiologistRepeat testing as necessaryFacilitate communication with the physiciansResource for referring physicians
20 The Role of the Pediatric Audiologist Challenges in pediatric audiologyImpact of Diagnosis on familyImpact of hearing loss on the childTestingCommunication with other professionalsGeography
21 The Role of the Pediatric Audiologist Challenges in pediatric audiologyImpact of Diagnosis on familyImpact of hearing loss on the childTestingCommunication with other professionalsGeography
22 The Role of the Pediatric Audiologist Impact of Diagnosis on the familyDiagnosis is new information for the familiesFamilies 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 lossThe family may not hear informationThe family may misunderstand details provided because of the newness and unfamiliarity of hearing lossThe 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 audiologyImpact of Diagnosis on familyImpact of hearing loss on the childTestingCommunication with other professionalsGeography
25 The Role of the Pediatric Audiologist Impact of hearing loss on the childHearing loss can potentially affect communication, education, socialization, and employmentGoal 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 audiologyImpact of Diagnosis on familyImpact of hearing loss on the childTestingCommunication with other professionalsGeography
27 The Role of the Pediatric Audiologist TestingDiagnosis of hearing loss in children is accomplished using a battery of tests and repeatable test resultsEven with a cooperative child, diagnosis of hearing loss is not accomplished off of only one test or one set of test resultsNon-participatory children will require multiple visits
28 The Role of the Pediatric Audiologist Challenges in pediatric audiologyImpact of Diagnosis on familyImpact of hearing loss on the childTestingCommunication with other professionalsGeography
29 The Role of the Pediatric Audiologist Communication with other professionalsSometimes 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 audiologyImpact of Diagnosis on familyImpact of hearing loss on the childTestingCommunication with other professionalsGeography
31 The Role of the Pediatric Audiologist GeographyPatients often have to travel distancesTo have access to many professionals at once eases the burden and cost of care on the familySome 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 parentReview test resultsReview implications of hearing lossReferral sourceRehabilitation recommendations/discussionResource for audiologistRepeat testing as necessaryFacilitate communication with the physiciansResource for referring physician
33 The Role of the Otolaryngologist in HAC: EvolvingDetection and treatment of middle ear pathologySeeing patients younger ageInvolved diagnostic testingInvolved 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 SNHL21% patients seen in a multidiscipinary hearing assessment clinic ( )Most common cochlear abnormalities: cochlear hypoplasia and incomplete partitionEnlarged vestibular aqueduct most common radiolographic abnormalityPark 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 detailMRI- assess cochlear nerve (cochlear implantation)MRI – more sensitive detection of EVA?
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 DeafnessIf we consider congenital deafness again, the most common genetic cause is due to mutations at a DFNB1 locus in the gene called GJB2.
41 Infant with ENT, audiology, hearing loss eye exam consider EKG, CT / MRIKnown environmentalcause, e.g. CMVNo knownenvironmental causePhysical anomalies/signs syndromeNo other signsIf positive:diagnosisDo Cx26/Cx30Family historyPositiveNegativeCryptogenicHearing lossAD, ARX-linkedDo confirmatorytestingOther testingModified from Rudolph’s Pediatrics
42 Step 1: Is there evidence for acquired hearing loss? Prematurity (2-5% of NICU graduates)Birth wt <1500gJaundiceGentamycinIntracranial bleedingECMOLow APGAR scoresIn utero infections : CMV, Rubella, toxoplasmosis
43 Step 1: Is there evidence for acquired hearing loss? Basic screening Labs:Urine/saliva -- cultureBlood -- serologyDNA -- PCRFurther investigation:CT: periventricular calcificationsEye exam: CMV chorioretinitisUniv 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 abnormalitiesCHARGE syndromeCHD7 mutations in 60%
47 Case SGA, microcephaly Atretic ear canals Wide nasal root Broad foreheadDown turned corners of the mouthDeletion 18q~30% of syndromic cases were chromosomal
48 Step 3: Consider a genetic cause of nonsyndromic hearing loss No signs of syndrome15% of all bilateral prelingual hearing loss is caused by mutations in the GJB2 (Cx26) gene~150 other single gene causes of nonsyndromic hearing lossIf positive:diagnosisDo Cx26/Cx30Family historyPositiveNegativeCryptogenicHearing lossAD, ARX-linkedOther testing
49 What is gained by a positive genetic diagnosis? Direct (or avoid) further diagnostic testingNo CT or MRI if Cx26 mutation foundDefine recurrence riskAutosomal recessive? Sporadic?Predict the clinical courseProgressive?Associated deficits (blindness) or malformations?
50 Pendred’s syndrome:Autosomal recessive condition associated with SNHL, goiterGene associated with transport chloride and iodide within the ear and thyroid gland1/3 patients with ELV have mutation for Pendred syndrome (SLC26A4 gene)Risk for progressive SNHL, vestibular dysfunction and goiter
51 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)
52 Prognosis in Cx26 related deafness Little or no progression of hearing lossNormal intellectGood response to cochlear implantation
53 Genetic diagnosis: future Connecting Connexin26 testing to newborn metabolic screeningOffer genetic testing a broader array of syndromic and nonsyndromic hearing loss
54 A future deafness screening protocol MYO6ACTG1DSPPTECTAEYA4MYO7ACOL11A2POU4F3TMC1MYO1ADIAPH1WFS1GJB3KCNQ4DFNA5MYH9COCHTFCP2L3SyndromicNonsyndromicGJB2/GJB6 TestingAppropriate Gene(s)Family HxNo Family HxMitochondrial12S rRNAtRNA serAminoglycosidesX-linkedPOU3F4DominantRecessiveTMIECDH23USH1COTOAMYO3APCDH15WHRNESPNPRESMYO15SLC26A4OTOFTMPRSS3CLDN14TMCSTRCGJA1Usher SyndromeSANSUSH2AVLGR1USH3(Courtesy of C. Morton, PhD)
55 Case Histories: 3 mo infant not pass 5 OAE tests Exam notable for bilateral serous otitis mediaOtherwise healthyPlaced ear tubesRepeat OAEs- normalChild has done well speech and language FU 2 years
56 Case Histories: 7 year old with primary ciliary dysmotility s/p t-tube insertionChronic otorrhea and moderate conductive hearing lossProblems in schoolCannot wear hearing aids because of otorrheaBone anchored hearing aids
66 Operculum Midpoint From Greinwald (2006) B A Tangent line A = B 90O angleABA = BFrom Greinwald (2006)
67 Enlarged Vestibular Aqueduct EVA definition (>97.5%)Abnormal-Midpoint->1.0mmOperculum->2.0mm(from Greinwald et al. 2006)
68 Efficacy of Steroids for Progressive SNHL associated with EVA: Lin et al. – prednisolone for EVA progressive SNHL.11/13 patients responded to steroidsGrimmer et al.8/12 w LVA responded to steroid therapy
69 Case Histories:Blood test to University of Iowa positive SLC26A4 (Pendred syndrome)Hearing thresholds have been stable x 3 mo.
70 Conclusion: Insight into exciting and evolving field Multidisciplinary clinic for HAC helpfulRole of team membersImportant to understand nuances of newborn hearing loss- audiologic tests, genetic and imaging options