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Pediatric Hearing Loss UCLA Head & Neck Surgery Ontario Lau MD.

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1 Pediatric Hearing Loss UCLA Head & Neck Surgery Ontario Lau MD

2 Epidemiology congenital SNHL 1-3 per 1000 per live birthscongenital SNHL 1-3 per 1000 per live births 10x greater for infants with 1 or more risk factor than those with no risk factors, ie 2% to 5%.10x greater for infants with 1 or more risk factor than those with no risk factors, ie 2% to 5%. late-onset and acquired hearing loss in childhood 6x higher than the incidence of hearing loss in the neonatal periodlate-onset and acquired hearing loss in childhood 6x higher than the incidence of hearing loss in the neonatal period  1% all children have HL  1% all children have HL

3 Evaluation History:History: –intrauterine infections (most commmon prenatal cause) –perinatal infection, maternal drug abuse, low Apgar score (most common perinatal causes) –Prematurity, NICU stay, bilirubinemia,family history. –Meningitis (most commmon postnatal cause) Physical: microscopic exam; auricle, periauricular pits, craniofacial abnormalities,Physical: microscopic exam; auricle, periauricular pits, craniofacial abnormalities, +/- ocular, thyroid, skin, limb exams  look for syndromic cause+/- ocular, thyroid, skin, limb exams  look for syndromic cause

4 Evaluation OAEOAE ABRABR –TORCH, meningitis, family hx, craniofacial abnormalities, birth weight <1.5kg, neonatal hyperbilirubinemia, Apgar <4 at 1 minutes, <6 at 5 minutes, prolonged NICU stay or ECMO or mechanical vent, exposure to ototoxic meds. Behavior observation audiometry (birth to 6 mos)Behavior observation audiometry (birth to 6 mos) Visual Reinforcement Audiometry (6mos-3yrs)Visual Reinforcement Audiometry (6mos-3yrs) Conventional play audiometry (3-6 yrs)Conventional play audiometry (3-6 yrs) Standard Audiometry (6 yrs+)Standard Audiometry (6 yrs+)

5 Ancillary Tests Imaging: CT temporal bone: inner ear disorders, cholesteatoma, & osteodysplasias. CBC, lipid profile, IgM assay for TORCH (Toxoplasmosis, Other[syphilis], Rubella, Cytomegalovirus, Herpes simplex) Connexin-26 test Other tests as indicated by ddx.

6 Causes of HL 5-10% prenatal causes (TORCH, teratogens)5-10% prenatal causes (TORCH, teratogens) 5-15% perinatal causes (hypoxemia etc)5-15% perinatal causes (hypoxemia etc) 10-20% postnatal causes (meningitis etc)10-20% postnatal causes (meningitis etc) 20-30% UNKNOWN20-30% UNKNOWN 30-50% genetic30-50% genetic

7 Acquired prenatal hearing loss Congenital Cytomegalovirus most common infectious cause, >4000 annual casesmost common infectious cause, >4000 annual cases Incidence of infection: 1-2 cases/100 live birthIncidence of infection: 1-2 cases/100 live birth  <5% develop multiorgan dx  50% of those develop HL  5-15% silently infected infants eventually develop HL Oto SSx: B progressive high freq SNHLOto SSx: B progressive high freq SNHL Other SSx: Cerebral calcification, microcephaly, mental retardation, hepatosplenomegaly, jaundice.Other SSx: Cerebral calcification, microcephaly, mental retardation, hepatosplenomegaly, jaundice.

8 Acquired prenatal hearing loss Congenital Cytomegalovirus Dx: serum anti-CMV IgM, CMV DNA from body fluid,+ intranuclear inclusions (owl eyes) in renal tubular cells in urinary sediment (1 to 2 weeks of life)Dx: serum anti-CMV IgM, CMV DNA from body fluid,+ intranuclear inclusions (owl eyes) in renal tubular cells in urinary sediment (1 to 2 weeks of life) Rx: Ganciclovir—little effect for HL since damage happened already in uteroRx: Ganciclovir—little effect for HL since damage happened already in utero

9 Acquired prenatal hearing loss Congenital Syphilis Pathophysio: transplacental transmission, 100% inoculation ratePathophysio: transplacental transmission, 100% inoculation rate 40% perinatal death40% perinatal death Oto SSx: frequent +Hennebert sign (aka +fistula sign)Oto SSx: frequent +Hennebert sign (aka +fistula sign) –Early deafness birth to 3 yo –delayed 8-20 yo. Other SSx: Hutchinson triad: abnormal central incisors (aka Hutchinson teeth), interstitial keratitis of the eye, bony abnormalitiesOther SSx: Hutchinson triad: abnormal central incisors (aka Hutchinson teeth), interstitial keratitis of the eye, bony abnormalities Dx: RPR,VDRL(sensitive);FTA-ABS(specific) Dx: RPR,VDRL(sensitive);FTA-ABS(specific) Tx: PCNTx: PCN

10 Acquired prenatal hearing loss Congenital Rubella Rare since vaccination (0-3 per year now in USA)Rare since vaccination (0-3 per year now in USA) Pathophysio: vasculitis resulting in tissue necrosisPathophysio: vasculitis resulting in tissue necrosis Oto SSx: B often asymmetric severe to profound SNHLOto SSx: B often asymmetric severe to profound SNHL Other SSx: growth delay, learning disability, congenital heart disease, and ocular, endocrinologic, and neurologic abnormalities.Other SSx: growth delay, learning disability, congenital heart disease, and ocular, endocrinologic, and neurologic abnormalities. Dx: urine/throat/amniotic fluid clx, antirubella IgMDx: urine/throat/amniotic fluid clx, antirubella IgM

11 Inner Ear Dysmorphologies Time frame: membranous labyrinth is interrupted during 1st trimesterTime frame: membranous labyrinth is interrupted during 1st trimester Etiologies: Genetic or teratogenic exposureEtiologies: Genetic or teratogenic exposure ClassificationsClassifications –membranous labyrinth ONLY (seen at autopsy) –Osseous & membranous labyrinth ( seen in CT)

12 Inner Ear Dysmorphologies Incidence: 20% congenital SNHL will show abnormal inner ear on CT temporal boneIncidence: 20% congenital SNHL will show abnormal inner ear on CT temporal bone –Bony: Dilated Vestibular aqueduct >cochlea>SCC (as reflected by modern imaging technology)

13 Inner Ear Dysmorphologies membranous labyrinth ONLY Complete membranous labyrinthine dysplasia (Siebenmann-Bing)Complete membranous labyrinthine dysplasia (Siebenmann-Bing) Limited membranous labyrinthine dysplasiaLimited membranous labyrinthine dysplasia –Scheibe dysplasia (cochleosaccular dysplasia) MOST common membranous labyrinthine dysplasia –Cochlear basal turn dysplasia

14 Bing-Siebenmann Extremely rareExtremely rare Associated with Jervell and Lange-Nielsen syndrome and Usher syndrome.Associated with Jervell and Lange-Nielsen syndrome and Usher syndrome.

15 Scheibe dysplasia cochleosaccular dysplasia Pathophysio: incomplete development of the pars inferiorPathophysio: incomplete development of the pars inferior –Cochlea dysplasia: severa in the basal turn, lessen toward apex, or severe throughout –Saccule: collapsed –Organ of Corti: partial or completely missing –SCCs & utricle: NORMAL OtoSSx: SNHLOtoSSx: SNHL Associated w/ Usher syndrome & Waardenburg syndromeAssociated w/ Usher syndrome & Waardenburg syndrome

16 2. Cochleosaccular Dysplasia: A Morphometric and Histopathologic Study in a Series of Temporal Bones. Sampaio, Andre; Cureoglu, Sebahattin; Schachern, Patricia; Kusunoki, Takeshi; Paparella, Michael; Oliveira, Carlos Otology & Neurotology. 25(4): , July FIG. 1. (A) In the apical turn of this right temporal bone from case 10, there is a large cystic area (arrow) in the stria that intersects in its apical portion with a hydropic Reissner's membrane (arrowhead). O, organ of Corti represented by supporting cells; T, deformed tectorial membrane; S, atrophic stria vascularis. (B) There are strial cysts (arrow) in the lower basal turn of this left temporal bone from case 2. (C) In the lower basal turn of this right temporal bone from case 8, there is a strial concretion (short arrow), a collapsed Reissner's membrane (arrowhead), and an amorphous substance (long arrow) within a rolled tectorial membrane.

17 Inner Ear Dysmorphologies osseous & membranous labyrinth Complete labyrinthine aplasia (Michel) 1%Complete labyrinthine aplasia (Michel) 1% Cochlear anomaliesCochlear anomalies –Cochlear aplasia 3% –cochlear hypoplasia 15% –Incomplete partition (Mondini) 55% – Common cavity 26%* *Jackler RK, Luxford WM, House WF: Congenital malformations of the inner ear: a classification based on embryogenesis, Laryngoscope Suppl 97:2, 1987

18 Michel: complete labyrinthine Aplasia Exceedingly rare.Exceedingly rare. Associated w/ anencephaly & thalidomide exposure.Associated w/ anencephaly & thalidomide exposure. Overestimated due to confusion with acquired labyrinthine ossification.Overestimated due to confusion with acquired labyrinthine ossification.

19 Mondini: incomplete partition Pathphysio: arrest at 7 th week gestation  1.5 turn cochleaPathphysio: arrest at 7 th week gestation  1.5 turn cochlea Oto SSx: normal to profound SNHLOto SSx: normal to profound SNHL Other SSx:Other SSx: –20% SCC deformities; –dilated cochlear aquaduct: perilymphatic gushers & meningitis

20 Mondini: incomplete partition CT/MRI findings:CT/MRI findings: –smaller cochlea (5-6mm vs 8-10mm vertical dimension of normal cochlea) –absence of a scalar septum

21 Common Cavity Pathphysio: arrest at 4 th week otocyst stage or laterPathphysio: arrest at 4 th week otocyst stage or later CT/MRI findings:CT/MRI findings: –Empty ovoid space (average 7mm vertically, 10mm horizontally) –Common cavity cochlear ANTERIOR to the IAC on axial CT Oto SSx: variable SNHL, usually poorOto SSx: variable SNHL, usually poor

22 2 Common Cavity Implanting Common Cavity Malformations Using Intraoperative Fluoroscopy. Coelho, Daniel; Waltzman, Susan; Roland, J Otology & Neurotology. 29(7): , October DOI: /MAO.0b013e FIG. 2. A transorbital plain x-ray intraoperative view. Note that the array has passed into the IAC. The arrow denotes the junction between the common cavity and the IAC as seen in this orientation. Inset outlines the lumen of the common cavity (cc) and the IAC. Reprinted with permission from Fishman AJ, Roland JT Jr, Alexiades G, Mierzwinski J, Cohen NL. Fluoroscopically assisted cochlear implantation. Otol Neurotol 2003;24:882-6.

23 Inner Ear Dysmorphologies osseous & membranous labyrinth Labyrinthine anomaliesLabyrinthine anomalies –Semicircular canal dysplasia – Semicircular canal aplasia Aqueductal anomaliesAqueductal anomalies –Enlargement of the vestibular aqueduct –Enlargement of the cochlear aqueduct Internal auditory canal anomalies Internal auditory canal anomalies –Narrow IAC – Wide IAC *Jackler RK, Luxford WM, House WF: Congenital malformations of the inner ear: a classification based on embryogenesis, Laryngoscope Suppl 97:2, 1987

24 Semicircular Canal Dysplasia 40% malformed cochlea a/w dysplasia of lateral SCC40% malformed cochlea a/w dysplasia of lateral SCC –Lateral>>post/superi or Pathphysio: arrest at 6 th weekPathphysio: arrest at 6 th week CT/MRI findings : short, broad cystic space confluent with the vestibuleCT/MRI findings : short, broad cystic space confluent with the vestibule

25 Enlargement of the Vestibular Aqueduct Epid: most common radiographically detectable malformation of the inner earEpid: most common radiographically detectable malformation of the inner ear Pathphysio: Acquired abnormal communication between the subarachnoid space and the fluid chambers of the inner earPathphysio: Acquired abnormal communication between the subarachnoid space and the fluid chambers of the inner ear Oto SSx:Oto SSx: – born w/ normal or mildly impaired hearing that gradually worsens; – hearing variable, 40% profound SNHL –CHL possible: AVOID STAPEDECTOMY! (a/w perilymphatic gusher)

26 Enlargement of the Vestibular Aqueduct CT/MRI findings :CT/MRI findings : –CT: VA> 2mm (normal 0.4-1mm) –a/w cochlea or SCC malformation –MRI: Dilated endolymphatic sac, sometimes >2cm –Usually bilateral RX: CI, avoid endolymphatic surgery/stapedectomyRX: CI, avoid endolymphatic surgery/stapedectomy

27 Wide Internal Auditory Canal Usually incidental finding in normal hearing subjectsUsually incidental finding in normal hearing subjects CT/MRI findings : IAC>10mmCT/MRI findings : IAC>10mm a/w spontaenous CSF otorrhea & gusher during stapes surgery  obtain CT for congenital CHL!a/w spontaenous CSF otorrhea & gusher during stapes surgery  obtain CT for congenital CHL!

28 Narrow Internal Auditory Canal Pathphysio : agenesis of CN VIIIPathphysio : agenesis of CN VIII CT/MRI findings : IAC<3 mm, bony canal only transmits CN VIICT/MRI findings : IAC<3 mm, bony canal only transmits CN VII Relative contraindication to CIRelative contraindication to CI

29 GENETIC HL >50% non-syndromic>50% non-syndromic –75% to 80% autosomal recessive –15% to 20% autosomal dominant –1% to 2% is X-linked. –<<1% mitochondrial inheritance

30 Autosomal Recessive Disorders Usher syndrome Most common cause of congenital deafnessMost common cause of congenital deafness 50% deaf-blind in USA50% deaf-blind in USA Pathophy: unknown, could also be autosomal dominant, X-linkedPathophy: unknown, could also be autosomal dominant, X-linked SSx:Variable SNHL, progressive retinitis pigmentosaSSx:Variable SNHL, progressive retinitis pigmentosa Dx: ElectroretinographyDx: Electroretinography

31 Usher syndrome subtypes I: profound congenital SNHL, No vestibular response Blind by childhood, most commonI: profound congenital SNHL, No vestibular response Blind by childhood, most common II: moderate to severe SNHL, normal vestibular response, blind by early adulthoodII: moderate to severe SNHL, normal vestibular response, blind by early adulthood III: progressive SNHL, progressive vestibular dysfunction, varied progression in blindnessIII: progressive SNHL, progressive vestibular dysfunction, varied progression in blindness

32 Autosomal Recessive Disorders Pendred syndrome Pathophy: Defect in tyrosine iodination from pendrin (chloride/iodide transporter)Pathophy: Defect in tyrosine iodination from pendrin (chloride/iodide transporter) OtoSSx: severe to profound SNHL, a/w Mondini deformity, dilated vestibular aqueducts.OtoSSx: severe to profound SNHL, a/w Mondini deformity, dilated vestibular aqueducts. Other SSx: multinodular goiter in 8-14 yoOther SSx: multinodular goiter in 8-14 yo Dx: + perchlorate testDx: + perchlorate test Rx: Thyroid supplementRx: Thyroid supplement

33 Autosomal Recessive Disorders Jervell and Lange-Nielsen Syndrome Pathophy: mutation in potassium channelPathophy: mutation in potassium channel OtoSSx: B severe to profound SNHLOtoSSx: B severe to profound SNHL Other SSx: cardiac abnormalities, recurrent syncope, sudden deathOther SSx: cardiac abnormalities, recurrent syncope, sudden death Dx: EKG ( prolonged QT, large T-wave)Dx: EKG ( prolonged QT, large T-wave) Rx: beta-blocker, HARx: beta-blocker, HA

34 Autosomal Recessive Disorders Goldenhar Syndrome aka Hemifacial Microsomia/ Oculoauriculovertebral spectrumaka Hemifacial Microsomia/ Oculoauriculovertebral spectrum Pathophy: uncertain, malformation of 1 st and 2 nd arch derivativesPathophy: uncertain, malformation of 1 st and 2 nd arch derivatives OtoSSx:OtoSSx: –microtia/EAC atresia, ossicular malformation  CHL –abnormal CN VII, SCC, oval window  SNHL

35 Autosomal Recessive Disorders Goldenhar Syndrome Other SSx:Other SSx: –Ocular: epibulbar dermoids, colobomas of upper eyelids –Vertebral: fusion or absence of cervical vertebrae –Facial asymmetry –Mild mental retardation Dx: PEDx: PE

36 Autosomal Dominant Disorders Waardenberg Syndrome Pathophy: abnormal tyrosine metabolismPathophy: abnormal tyrosine metabolism OtoSSx: U/B SNHL, +/- vestibular dysfunctionOtoSSx: U/B SNHL, +/- vestibular dysfunction Other SSx:Other SSx: –Pigmentary abnormalities (heterchromic iriditis, white forelock, patch skin depigmentation –Dystopia canthorum –Synophrys –Flat nasal root, –Hypoplastic alae

37 Autosomal Dominant Disorders Waardenberg Syndrome SubtypesSubtypes I: + telecanthus, % SNHLI: + telecanthus, % SNHL II: -telecanthus, 57-85% SNHLII: -telecanthus, 57-85% SNHL III: type 1 + hypoplasia or contracture of the upper limbs. (=Klein-Waardenburg syndrome)III: type 1 + hypoplasia or contracture of the upper limbs. (=Klein-Waardenburg syndrome) IV: WS + Hirschsprung disease ( Waardenburg-Shah syndrome)  autosomal recessiveIV: WS + Hirschsprung disease ( Waardenburg-Shah syndrome)  autosomal recessive Dx: clinical H&P, family HxDx: clinical H&P, family Hx

38 Autosomal Dominant Disorders Stickler Syndrome =Progressive Arthro-Ophthalmpathy=Progressive Arthro-Ophthalmpathy Pathophy: mutation in type II and type XI collagen, variable phenotype; 1:10,000Pathophy: mutation in type II and type XI collagen, variable phenotype; 1:10,000 OtoSSx: progressive SNHL, MHL ( from ETD of clefting)OtoSSx: progressive SNHL, MHL ( from ETD of clefting) Other SSx:Other SSx: –myopia, retinal detachment –Marfanoid habitus –joint hypermobilities –Midline clefting Dx: clinical H&P, family HxDx: clinical H&P, family Hx

39 Autosomal Dominant Disorders Branchio-Oto-Renal Syndrome =Melnick Fraser Syndrome, 1 in 40,000 newborns=Melnick Fraser Syndrome, 1 in 40,000 newborns Pathophy: branchial arches, otic & renal abnormal developmentPathophy: branchial arches, otic & renal abnormal development OtoSSx:OtoSSx: –preauricular ear pits/tags, microtia, EAC stenosis; middle/inner ear anomalites –50% MHL, 30% CHL, 20% SNHL Other SSx: varied renal abnormalities (agenesis to mild dysplasia)Other SSx: varied renal abnormalities (agenesis to mild dysplasia) Dx: Renal US or pyelography; renal abnormalities frequently asymptomaticDx: Renal US or pyelography; renal abnormalities frequently asymptomatic

40 Autosomal Dominant Disorders Treacher Collins Syndrome =Mandibulofacial dysostosis=Mandibulofacial dysostosis Pathophy: uncertain.Pathophy: uncertain. OtoSSx: microtia/EAC atresia, preauricular fistulas, malformed ossicle  CHL, widened aqueduct, aberrant CN VIIOtoSSx: microtia/EAC atresia, preauricular fistulas, malformed ossicle  CHL, widened aqueduct, aberrant CN VII Other SSx: mandibular hypoplasia-fishmouth; downward slanting palpebral fissures, coloboma of lower eyelids, palate defects. Choanal atresiaOther SSx: mandibular hypoplasia-fishmouth; downward slanting palpebral fissures, coloboma of lower eyelids, palate defects. Choanal atresia Dx: clinical H&P, family HxDx: clinical H&P, family Hx Rx: BAHA, possible atresia repairRx: BAHA, possible atresia repair

41 Autosomal Dominant Disorders Neurofibromatosis I =Von Recklinghausen disease=Von Recklinghausen disease Pathophy: NF 1 in chromosome 17Pathophy: NF 1 in chromosome 17 OtoSSx: retrocochlear HLOtoSSx: retrocochlear HL NF 1 (2/7 characters)NF 1 (2/7 characters) –>6 café-au-lait spots –2 or more neurofibromas or 1 plexiform neurofibroma –Axillary or groin freckling –Optic nerve glioma –Lisch nodules (eye hamartomas) –Bony lesions –+family Hx 5% risk of U vestibular schwannoma5% risk of U vestibular schwannoma

42 Autosomal Dominant Disorders Neurofibromatosis 2 Pathophy: mutation in Merlin ( tumor suppressor gene) in chromosome 22Pathophy: mutation in Merlin ( tumor suppressor gene) in chromosome 22 OtoSSx: retrocochlear HLOtoSSx: retrocochlear HL NF 2NF 2 –B vestibular schwannoma by 2 nd decade of life –Family h/o NFII in a 1 st degree relative PLUS –A) unilateral vestibular schwannoma at <30 yo –B) 2 neurofibroma + other intracranial & spinal cord tumors (gliomas/schwannomas/meningiomas)

43 Autosomal Dominant Disorders Apert Syndrome =Acrocephalosyndactyly=Acrocephalosyndactyly Pathophy: autosomal dominant or sporadicPathophy: autosomal dominant or sporadic OtoSSx: Stapes fixation  CHL, patent cochlear aqueduct, large subarcuate fossaOtoSSx: Stapes fixation  CHL, patent cochlear aqueduct, large subarcuate fossa Other SSx:Other SSx: –lobster claw hands –midface abnormalites (hypertelorism, proptosis, saddle nose, high-arched palate) –craniofacial dysostosis – trapezoid mouth

44 Autosomal Dominant Disorders Crouzon Syndrome = Craniofacial dysostosis, Pathophy: unknown= Craniofacial dysostosis, Pathophy: unknown OtoSSx: microtia/EAC atresia, malformed ossicle  CHL,OtoSSx: microtia/EAC atresia, malformed ossicle  CHL, Other SSx: midface abnormalites (hypertelorism, small maxilla, exophthalmos, parrot nose, short upper lip, craniofacial dysostosis, mandibular prognathismOther SSx: midface abnormalites (hypertelorism, small maxilla, exophthalmos, parrot nose, short upper lip, craniofacial dysostosis, mandibular prognathism

45 Sex-linked Disorders Alport Disease Pathophy: 80% X-linked or autosomal dominant/recessive. Abnormal Type IV collagen formation in glomerular basement  renal failurePathophy: 80% X-linked or autosomal dominant/recessive. Abnormal Type IV collagen formation in glomerular basement  renal failure OtoSSx: B degeneration of organ of Corti and stria  slowly progressive SNHLOtoSSx: B degeneration of organ of Corti and stria  slowly progressive SNHL Other SSx: hematuria, progressive nephritis, macular/corneal lesionsOther SSx: hematuria, progressive nephritis, macular/corneal lesions Dx: skin or renal bx w/ electron microscopy, UADx: skin or renal bx w/ electron microscopy, UA Rx: HD, renal transplant.Rx: HD, renal transplant.


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