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ENT for the PA-C, Apr 2012 Pediatric Hearing Loss and Testing Techniques Diego A Preciado MD PhD Pediatric Otolaryngology Childrens National Medical Center.

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Presentation on theme: "ENT for the PA-C, Apr 2012 Pediatric Hearing Loss and Testing Techniques Diego A Preciado MD PhD Pediatric Otolaryngology Childrens National Medical Center."— Presentation transcript:

1 ENT for the PA-C, Apr 2012 Pediatric Hearing Loss and Testing Techniques Diego A Preciado MD PhD Pediatric Otolaryngology Childrens National Medical Center George Washington University Washington, DC

2 ENT for the PA-C, Apr 2012 11 month child seems to hear well at home, but daycare provider concerned with ability to respond to verbal stimuli at times

3 A) Child can only be tested asleep B) Child can be tested awake C) Child can only be screened for hearing loss at his age D) Child can only be tested by the old rub/snap your fingers next to the ear trick

4 ENT for the PA-C, Apr 2012 Childhood Hearing Loss Moderate to profound congenital hearing impairment occurs in 4 per 1000 live births Recommendations specify that All children screened at birth All children diagnosed by 3 months of age All children treated by 6 months 43 states have mandated Universal Newborn Hearing Screening (UNHS) programs

5 ENT for the PA-C, Apr 2012 Types of Hearing Tests Screening (PASS OR FAIL) (electrophysiological) –Otoacoustic Emissions (OAE) –Automated ABR Diagnostic (NOT PASS OR FAIL) –ABR (electrophysiological; all ages) –Pure Tone Audiometry (>4 yrs of age) –Infant Audiometry (>6 mo of age)

6 Heres the clinical challenge we are faced with….. UNHS Infants with HL 061218 Optimal Age for CI Target Age Language behaviors age in months ENT HA, Rehab, SLP

7 Electrophysiologic Testing Use in neonates, uncooperative patients, brain injury Otoacoustic emissions (OAEs) Originates in cochlea, evoked with sound stimulation Absent suggests > 30 dB HL

8 ENT for the PA-C, Apr 2012 Electrophysiologic Testing Evoked auditory brainstem response (ABR or BAER) Auditory electrical responses Diagnoses presence, degree and type of HL

9 ENT for the PA-C, Apr 2012 Hearing Loss Types Conductive –measured by air stimulation on audiogram Sensorineural –measured by bone stimulation on audiogram Mixed

10 ENT for the PA-C, Apr 2012 Conductive Loss Conductive loss (CHL) results from increase in impedance (resistance) Audiometric profile of conductive hearing loss is threshold for air conduction is worse than for bone conduction i.e. large air- bone gap

11 ENT for the PA-C, Apr 2012 Conductive Hearing Loss Generally reversible Middle or External Ear Pathology External auditory canal (EAC) obstruction Cerumen impactions, foreign body, otitis externa, EAC atresia Abnormality of ear drum Perforation, retraction ME conditions AOM, OM with effusion, cholesteatoma, tumor Ossicular chain anomalies Disruption - associated with trauma Fixation – often congenital

12 ENT for the PA-C, Apr 2012 Tympanometry Not a hearing test! Objective measure of middle ear (ME) compliance Complements ear exam

13 Tympanograms COMPLIANCE/Admitance Volume

14 ENT for the PA-C, Apr 2012 Tympanograms Type A- Normal

15 ENT for the PA-C, Apr 2012 Tympanograms Type B- High Volume Perforation or PE tube Type B- Low Volume Fluid

16 ENT for the PA-C, Apr 2012 Tympanograms Type C- Negative Pressure Retraction

17 ENT for the PA-C, Apr 2012 Sensorineural Loss Sensorineural hearing loss (SNHL) results because of lesions in the auditory nerves and/or cochlea Audiometric profile of sensorineural hearing loss demonstrates air conduction and bone conduction reduced without an air-bone gap

18 ENT for the PA-C, Apr 2012 Etiology of SNHL 70% recessive 25% dominant 5% X-linked

19 ENT for the PA-C, Apr 2012 SNHL – Associated Conditions Usually irreversible Family history – congenital, delayed onset childhood SNHL Congential infections – CMV, rubella Bacterial meningitis Loop diuretics, aminoglycosides, aspirin Hyperbilirubinemia Severe depression at birth (asphyxia) Anomalies of external and middle ear

20 ENT for the PA-C, Apr 2012 Mixed Hearing Loss Mixed hearing loss results from BOTH a conductive and sensorineural hearing loss Audiometric profile shows a drop in air and bone conduction with an air-bone gap

21 ENT for the PA-C, Apr 2012 Audiogram

22 ENT for the PA-C, Apr 2012 Behavioral Audiometry Test Techniques: Behavioral Observation Audiometry (BOA) Visual reinforcement audiometry (VRA) Conditioned play audiometry (CPA) Conventional hand-raising procedures

23 ENT for the PA-C, Apr 2012 Behavioral Observation Audiometry

24 ENT for the PA-C, Apr 2012 Behavioral Observation Audiometry (BOA) Children aged ~5 months to 2 years –Individuals with neurological/developmental involvements Primarily sound field testing Subjective observation by the clinician Stimuli may include speech, warble tones, narrowband noise (NBN), parents voice

25 ENT for the PA-C, Apr 2012 Audiometry during infancy S S S S Age-appropriate responses for infants aged ~5 – 9 months Speech = 20 NBN or warbled tones = 20-50 Symbols Sound field S

26 ENT for the PA-C, Apr 2012 Visual reinforcement audiometry (VRA) Employs lighted transparent-boxed toys to reinforce childs localized response to onset of acoustic stimuli

27 ENT for the PA-C, Apr 2012

28 Visual reinforcement audiometry (VRA) Children aged 6 mo - ~ 3 years Technique consists of conditioning & testing phases Responses may include localizations or BOA responses Disadvantages –Dependent on conditioning child to task –Habituation to acoustic stimuli –Poor test reliability

29 ENT for the PA-C, Apr 2012 Conditioned Play Audiometry (CPA) Child is taught a play task in response to the onset of an acoustic stimulus Children aged ~ 2-2.5 - 5 years

30 ENT for the PA-C, Apr 2012

31 Audiometry Conventional audiometry: 5 yrs Zero-20 dB is normal range Not absolute, but normalized scale Hearing threshold measured for air and bone conduction in decibels from 250 Hz – 8 KHz

32 Pure Tone Audiograms loudness

33 ENT for the PA-C, Apr 2012 Audiograms Bracket = Bone, Right SideCircle = Air, Right Side NORMAL

34 ENT for the PA-C, Apr 2012 Audiograms Bracket = Bone, Right SideCircle = Air, Right Side CHL A-B gap

35 ENT for the PA-C, Apr 2012 Audiograms Bracket = Bone, Right SideCircle = Air, Right Side SNHL

36 ENT for the PA-C, Apr 2012 Audiograms Bracket = Bone, Right SideCircle = Air, Right Side MIXED HL

37 A 3 year old child presents with low volume, Type B tympanogram, and 20 dB Air Bone gap Most likely diagnosis is A- Cholesteatoma B- TM perforation C- OM with effusion D- Sensorineural hearing loss

38 A 3 year old child presents with low volume, Type B tympanogram, and 20 dB Air Bone gap Most likely diagnosis is A- Cholesteatoma B- TM perforation C- OM with effusion D- Sensorineural hearing loss

39 ENT for the PA-C, Apr 2012 Hereditary Hearing Impairment Dominant –progressive, milder, late onset, penetrance/expressivity Recessive –stable, severe, congenital, more symmetric

40 SYNDROMES

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42 ENT for the PA-C, Apr 2012 Waardenburg Syndrome Autosomal dominant –Variable expressivity Associated with pigmentary abnormalities White forelock (20-30%) Premature graying Vitiligo Heterochromia irdis

43 Treacher Collins Syndrome (Mandibulofacial Dystostosis) Inheritance: Autosomal dominant with variable expressivity Molecular basis:Caused by mutations in Treacle gene (TCOF1)

44 ENT for the PA-C, Apr 2012 Branchiootorenal Syndrome Autosomal dominant Branchial cleft sinuses/fistulas Renal anomalies –These range from mild hypoplasia to bilateral renal agenesis External, middle and inner ear deformities Estimated at about 2% of childhood deafness

45 ENT for the PA-C, Apr 2012 Autosomal Recessive Syndromes

46 ENT for the PA-C, Apr 2012 Pendred Syndrome Autosomal recessive Abnormal incorporation of iodine Perchlorate or thiocyanate tests are rarely performed Goiter and hypothyroidism usually present by about 8 years of age

47 ENT for the PA-C, Apr 2012 Pendred Syndrome Associated with enlarged vestibular aqueduct Histologic evidence of hydrops and degenerated changes of the stria vascularis have been described Treatment – –amplification –exogenous thyroid hormone

48 ENT for the PA-C, Apr 2012

49 Ushers Syndrome Ushers Syndrome Type I (7 loci-MYO7A) –Autosomal recessive –Severe to profound hearing loss –Absence of vestibular response –Slow progression –Slowly progressive visual field deficits beginning as early as age 9-10

50 ENT for the PA-C, Apr 2012 Jervell and Lange-Nielson Autosomal recessive –Severe-to-profound Bilateral Cardiac conduction defects –Enlarged T-waves –Prolongation of the Q-T interval –Syncopal episodes –Sudden death

51 ENT for the PA-C, Apr 2012 Clinical Genetics Not all that is genetic is a syndrome… Malformation: morphologic defect of an organ, part of organ resulting from an intrinsically abnormal developmental process Sequence: multiple defects from a single defect Syndrome: pattern of multiple anomalies pathogenetically related

52 ENT for the PA-C, Apr 2012 Connexin 26 Mutations in GJB2 (DFNB1) reported at ~30% (20%-70%) of severe to profound hearing loss Carrier rate-3.0% (Caucasian) 35delG, M34T -Caucasian 167delT-Ashkenazi Jewish 235delC-Japanese

53 ENT for the PA-C, Apr 2012 Connexin 26 GJB2

54 ENT for the PA-C, Apr 2012 EVA Sensorineural Hearing Loss Low Frequency Conductive Hearing Loss Component Usually stable hearing level Occasionally Progressive Although a congenital malformation of the inner ear, frequently a later onset hearing loss

55 ENT for the PA-C, Apr 2012 EVA Syndromic –Associated with SLC26A4 mutation (DFNB4) –Pendreds –More severe phenotype Non-syndromic –More heterogenous hearing level

56 ENT for the PA-C, Apr 2012 VA Size Boston M, et al. Oto-HNS, 2007

57 SLC26A4 mutations and hearing loss Asaiez H, et al. Human Genetics, 2007

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59 ENT for the PA-C, Apr 2012 Clinical Evaluation History and Physical Syndromic findings –Cutaneous, musculoskeletal, visceral (cardiac, thyroid, renal, visual/balance, cervical) Neonatal risk factors Others-noise, head trauma, autoimmune, Menieres, Lues Extended family history –pedigree

60 ENT for the PA-C, Apr 2012 Clinical Evaluation Audiometric evaluation-Diagnosis –Behavioral –ABR

61 ENT for the PA-C, Apr 2012 Results GJB2 and Imaging yield vs. SNHL

62 GJB2 screen + CT scan + _ _ Genetic Counseling CT scan GJB2 screen Lab tests as indicated ECG History, Physical examination, Audiologic work-up Diagnosis uncertain BilateralUnilateral MRI, Preferential seating, Serial audiograms Appropriate treatment Diagnosis apparent Sev-to-ProfMod-SevMild-to-Mod Appropriate treatment Preciado D, et al. Otol Neurotol. 2005 Jul;26(4):610-5

63 ENT for the PA-C, Apr 2012 Conclusions You can screen or diagnose AT ANY AGE! Screen for HL at birth, diagnose by 3 months You can test awake starting at 6 months Follow a logical sequential diagnostic work-up paradigm based on history and physical Laboratory investigation should be based on these results and on clinical history

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