Sensorineural hearing loss in children & Cochlear Implant.

Sensorineural hearing loss in children & Cochlear Implant

Sensorineural hearing loss in children

1 non genetic SNHL1 non genetic SNHL 2 genetic SNHL2 genetic SNHL

syndromicsyndromic

non-syndromicnon-syndromic

SNHL in childrenSNHL in children

Permanent Permanent congenital or early congenital or early onset hearing loss onset hearing loss in the in the moderate to moderate to profound rangeprofound range (41 to 100 dB) (41 to 100 dB) Intervention Intervention

instituted < 6 instituted < 6 monthsmonths of age of age lead to poor lead to poor academic academic performance & performance & school behavior school behavior problemsproblems

30% - 40%30% - 40% of children with hearing loss of children with hearing loss => health-related developmental + => health-related developmental + communicative development communicative development

Early Hearing Detection& Intervention Early Hearing Detection& Intervention (EHDI)(EHDI) studies of universal newborn studies of universal newborn hearing screening hearing screening

- evoked otoacoustic emissions (EOAE) - evoked otoacoustic emissions (EOAE)

- automated auditory brainstem response - automated auditory brainstem response (AABR) (AABR)

National EHDI goalsNational EHDI goals (a)(a) all newborns will be screened for all newborns will be screened for

hearing loss < 1 month of age hearing loss < 1 month of age

(b)(b) all infants who screen positive will all infants who screen positive will have a diagnostic audiologic assess < 3 have a diagnostic audiologic assess < 3 months of agemonths of age

(c)(c) infants identified with a hearing loss infants identified with a hearing loss will begin receiving early intervention will begin receiving early intervention services < 6 months of ageservices < 6 months of age

EVALUATIONEVALUATION Multidisciplinary teamMultidisciplinary team HxHx - - prenatal, birth& postnatal history prenatal, birth& postnatal history

& FH for hearing loss & FH for hearing loss

- - speech or language disorders;ENT speech or language disorders;ENT disorders & craniofacial deformities, disorders & craniofacial deformities, such syndromic featuressuch syndromic features ( kidney disorders, ( kidney disorders, sudden death of a family member at a young age, sudden death of a family member at a young age, thyroid disease, intracranial tumors, progressive thyroid disease, intracranial tumors, progressive blindness and cafe au lait spots )blindness and cafe au lait spots )

- - marital pedigreemarital pedigree

PEPE HL syndromesHL syndromes ( auricular ( auricular

displacement or malformation, displacement or malformation, preauricular or branchial pits, white preauricular or branchial pits, white forelock, heterochromia irides, blue forelock, heterochromia irides, blue sclerae, dystopia canthorum, facial sclerae, dystopia canthorum, facial asymmetry, and cafe aulait spots ) asymmetry, and cafe aulait spots ) & & vision testvision test

ECG, hemato & chem, TFT, ECG, hemato & chem, TFT, tests for congenital infection tests for congenital infection

[e.g., toxoplasmosis, [e.g., toxoplasmosis, syphilils,CMV], renal U/S & temporal syphilils,CMV], renal U/S & temporal bone imagingbone imaging

Childhood deafness, confirm lab Childhood deafness, confirm lab within within first 2 - 3 weeks of lifefirst 2 - 3 weeks of life

NONGENETIC DXNONGENETIC DX

Cytomegalovirus InfectionCytomegalovirus Infection

Most prevalent cause of Most prevalent cause of intrauterine viral intrauterine viral infectioninfection

Direct transmission of CMV Direct transmission of CMV - - vertically or horizontallyvertically or horizontally

Primary infection can lead to Primary infection can lead to months or months or yearsyears of viral shedding in saliva, urine, of viral shedding in saliva, urine, semen & cervical or vaginal fluidssemen & cervical or vaginal fluids

Particular CMV => Particular CMV => VIII th nerveVIII th nerve


Congenital CMV infection rate - high Congenital CMV infection rate - high (20% to 25%) (20% to 25%)

- - lower socioeconomic lower socioeconomic

- mothers < 20 years- mothers < 20 years of age, most of age, most of whom are of whom are unmarried unmarried (80% in one (80% in one study)study)

Cytomegalovirus InfectionCytomegalovirus Infection Perinatally infected infants - pneumonitis, Perinatally infected infants - pneumonitis,

slow weight gain, adenopathy, rash, slow weight gain, adenopathy, rash, jaundice, anemia & atypical lymphocytosis jaundice, anemia & atypical lymphocytosis

shed virus in bodily secretions shed virus in bodily secretions from birth from birth and peri-postnatallyand peri-postnatally infected infants can infected infants can begin excreting virus between begin excreting virus between 3 and 12 3 and 12 weeks of ageweeks of age

Definitive DxDefinitive Dx - viral isolation from urine or - viral isolation from urine or saliva e.g saliva e.g PCRPCR within the within the first 2 weeks of first 2 weeks of lifelife

10% - 15%10% - 15% symptomatic symptomatic CMVCMV

90%90% having having cytomegalic inclusion cytomegalic inclusion diseasedisease (CID)(CID), with involve CNS & , with involve CNS & RE system, hepatosplenomegaly, RE system, hepatosplenomegaly, petechiae & jaundice petechiae & jaundice


2 years2 years of age=> of age=> nearly all infants nearly all infants with CID with CID

- Severe mental& - Severe mental& perceptual deficits, perceptual deficits, with with severe to severe to profound SNHLprofound SNHL & & chorioretinitis & chorioretinitis & optic atrophy in 25% optic atrophy in 25% to 30% of cases to 30% of cases

90%90% of CMV-infected of CMV-infected neonates who are neonates who are asymptomatic at asymptomatic at birth-birth- improved improved prognosis ( neuro prognosis ( neuro development), but development), but other sequelae, other sequelae, including including SNHL (10% SNHL (10% to 15% of cases), can to 15% of cases), can developdevelop


Congenital Congenital CMVCMV infection – infection – 1/31/3 of of sensorineural impairments in young sensorineural impairments in young children children

develop develop permanent CMVpermanent CMV - related hearing - related hearing impairment, which can be impairment, which can be delayed months delayed months or years or years

Fluctuate & progressFluctuate & progress in severity over time in severity over time


Limited antiviral therapy trials Limited antiviral therapy trials (ganciclovir-treated group) After 6 (ganciclovir-treated group) After 6 months of F/U with ABR months of F/U with ABR

-84% improved hearing /maintained -84% improved hearing /maintained normal ABR normal ABR

- 59% of nontreated controls- 59% of nontreated controls

At 1 year, At 1 year, 21% of the treatment group did have 21% of the treatment group did have

more hearing loss more hearing loss full 68% of controls also showed a full 68% of controls also showed a

worsening of auditory thresholdsworsening of auditory thresholds

Congenital ToxoplasmosisCongenital Toxoplasmosis

Congenital ToxoplasmosisCongenital Toxoplasmosis Fetal infectionFetal infection varies varies 15% in the 115% in the 1stst trimester trimester 30% in 230% in 2ndnd trimester trimester 60% in 360% in 3rdrd trimester trimester

Highest riskHighest risk of severe of severe congenital congenital toxoplasmosistoxoplasmosis associated with primary associated with primary maternal infection maternal infection (weeks 10 - 24 of preg) (weeks 10 - 24 of preg)

Spiramycin Spiramycin administered to expectant administered to expectant mothers with documented primary infection mothers with documented primary infection during pregnancy can reduce transmission during pregnancy can reduce transmission to the fetus to the fetus up to 60%up to 60%


75% - 80% - asymptomatic at birth75% - 80% - asymptomatic at birth 15%- eye findings15%- eye findings 10% - severely involved 10% - severely involved

UntreatedUntreated neonates with subclinical infection neonates with subclinical infection are at high risk for are at high risk for later chorioretinitis with later chorioretinitis with decreasing VAdecreasing VA (up to 85% by age 20) (up to 85% by age 20)

- progressive CNS involvement with - progressive CNS involvement with decreased intellectual function, deafness & decreased intellectual function, deafness & precocious puberty precocious puberty


Studies of prenatal treatment of infected Studies of prenatal treatment of infected mothers reveal a 0.6% fetal infection rate mothers reveal a 0.6% fetal infection rate - in early pregnancy - in early pregnancy

- 3.7% during the 6th to 16- 3.7% during the 6th to 16thth wk(GA) wk(GA)

- 20% in 16th through the 25th wk- 20% in 16th through the 25th wk

- 70% in untreated mothers- 70% in untreated mothers

1 1 spiramycinspiramycin - - 1st-2nd trimester1st-2nd trimester 2 2 pyrimethamine & sulfadiazinepyrimethamine & sulfadiazine late second trimester may reduce the frequency of late second trimester may reduce the frequency of

transplacental transmission & serious fetal sequelaetransplacental transmission & serious fetal sequelae

3 3 folinic acidfolinic acid – – ameliorate bone marrow suppressionameliorate bone marrow suppression

U/S U/S fetal infection =>intracranial fetal infection =>intracranial calcifications, ventricular dilatation, calcifications, ventricular dilatation, hepatic enlargement, ascites, & hepatic enlargement, ascites, & increased placental thicknessincreased placental thickness


S/SS/S

may be may be hydrocephalus, hydrocephalus, microcephalymicrocephaly, , intracranial intracranial calcifications, calcifications, chorioretinitischorioretinitis, , strabismus, strabismus, blindnessblindness, , epilepsy, epilepsy, psychomotorpsychomotor, , thrombocytopenia c thrombocytopenia c petechiae petechiae & anemia & anemia

Congenital ToxoplasmosisCongenital Toxoplasmosis PCR confirmsPCR confirms detect T. gondii DNA detect T. gondii DNA

Offspring Offspring of mothers with maternal of mothers with maternal infection should be infection should be treated for up to 1 treated for up to 1 yearyear

F/UF/U - - CT scansCT scans to assess CNS status? to assess CNS status? - - ophthalmoophthalmo. exam for chorioretinitis? . exam for chorioretinitis? - - audio evaluation to audio evaluation to detect delayed onset detect delayed onset hearing loss?hearing loss?


15% - 25%15% - 25% of untreated => of untreated => develope develope SNHLSNHL

A Chicago-based study of treated infants with A Chicago-based study of treated infants with

longitudinal ABR & behavioral audiologic tests - longitudinal ABR & behavioral audiologic tests -

no hearing loss among 57 infected infants no hearing loss among 57 infected infants

Congenital SyphilisCongenital Syphilis

CS caused by CS caused by transplacental transmissiontransplacental transmission of spirochete of spirochete Treponema pallidumTreponema pallidum

may be obvious at birth or may be obvious at birth or late as the fifth late as the fifth decade of life decade of life

mostmost likely during likely during - - primary syphilis (70% to 100%)primary syphilis (70% to 100%) - late stage (30%) - late stage (30%)

CS ,early-onset(first 3 CS ,early-onset(first 3 months of life)months of life) associated with associated with

maternal infection maternal infection early in pregnancyearly in pregnancy

infants = LBW infants = LBW with with hepatosplenomegaly hepatosplenomegaly & mucocutaneous & & mucocutaneous & rhinitis (“snuffles”) rhinitis (“snuffles”)

diffuse, diffuse, maculopapular, maculopapular, desquamating skin desquamating skin rash + palms & rash + palms & soles of the feetsoles of the feet

Classic stigmata of Classic stigmata of congenital syphiliscongenital syphilis

SNHLSNHL, interstitial keratitis, , interstitial keratitis, Hutchinson Hutchinson teeth (notched incisors),teeth (notched incisors), mulberry molars, mulberry molars, Clutton joints (bilateral painless knee Clutton joints (bilateral painless knee effusionseffusions), nasal septal perforation & ), nasal septal perforation & saddle deformitysaddle deformity& frontal bossing. & frontal bossing. Skeletal findings Skeletal findings osteochondritis& osteochondritis& periostitisperiostitis of long bones of long bones

radiographicradiographic evidence (particularly in the evidence (particularly in the humerus and femur) of symmetric changes- humerus and femur) of symmetric changes- serrated metaohyseal ends thickened periosteum serrated metaohyseal ends thickened periosteum & metaphyseal defects of the upper medial tibia& metaphyseal defects of the upper medial tibia


Offspring Offspring of seroreactive mothers should of seroreactive mothers should undergo scrutiny for undergo scrutiny for signs of CSsigns of CS, in addition , in addition to to histopathologic examhistopathologic exam of the placenta or of the placenta or umbilical cord using umbilical cord using fluorescent fluorescent antitreponemal antibody staining techniquesantitreponemal antibody staining techniques

If maternal syphilis had been treated by an If maternal syphilis had been treated by an adequate regimen, the adequate regimen, the infant should be infant should be treated unless a fourfold decrease in treated unless a fourfold decrease in nontreponemal maternal antibody was nontreponemal maternal antibody was documenteddocumented


Prevalence Prevalence hearing losshearing loss with CS = with CS = 3%- 38%3%- 38%

- 37% of cases < age 10- 37% of cases < age 10

- - 51% between 25 - 35 years of 51% between 25 - 35 years of ageage

- 12% even later in life- 12% even later in life

Audiologic follow-upAudiologic follow-up


Audiometric configuration=Audiometric configuration=

bilateral, flat SNHLbilateral, flat SNHL, which can , which can present in children as a present in children as a sudden, sudden, bilateral profound impairment, bilateral profound impairment, usually without vertigousually without vertigo


Late CSLate CS, the hearing loss can be sudden, , the hearing loss can be sudden, asymmetric, fluctuating, and progressiveasymmetric, fluctuating, and progressive, , accompanied often by accompanied often by episodic tinnitus and episodic tinnitus and vertigo vertigo

Poor SDSPoor SDS are typically, loudness are typically, loudness recruitment recruitment severe & caloric response weak to absentsevere & caloric response weak to absent

A positive labyrinththine fistula test may be A positive labyrinththine fistula test may be present (Hennebert sign) & Tullio present (Hennebert sign) & Tullio phenomenon, disequilibriumphenomenon, disequilibrium


FTA-ABSFTA-ABS = = high sensitivity & specificity rate high sensitivity & specificity rate 98% 98%

False-positiveFalse-positive findings => findings => Pt. with Pt. with autoimmune or drug-induced collagen vascular autoimmune or drug-induced collagen vascular DzDz

Confirmatory testsConfirmatory tests – – microhemagglutination assay for T. microhemagglutination assay for T.

pallidum pallidum (MHA-TP(MHA-TP)& the )& the T. pallidum inhibition T. pallidum inhibition test (TPI),test (TPI), which is highly specific (99%) which is highly specific (99%)


Offspring Offspring of seropositive mother should be of seropositive mother should be monitored with nontreponemal antibody monitored with nontreponemal antibody tests at 1, 2, 4, 6, and 12 months of age tests at 1, 2, 4, 6, and 12 months of age

Stable or rising titers by 6 months age = Stable or rising titers by 6 months age = indication for reevaluation & treatment indication for reevaluation & treatment

Infants with neurosyphilis should have Infants with neurosyphilis should have serial LP at 6-month intervalsserial LP at 6-month intervals until the until the spinal fluid is normalspinal fluid is normal


The treatment of choice = The treatment of choice = high dose high dose parenteral penicillinparenteral penicillin

Systemic corticosteroidsSystemic corticosteroids (oral prednisone) (oral prednisone) may be effective in stabilizing or may be effective in stabilizing or improving hearing in approximately 50% improving hearing in approximately 50% of patients with syphilitic deafness of patients with syphilitic deafness

SDSSDS may show greater improvement than may show greater improvement than pure tone thresholds pure tone thresholds

Neonatal SepsisNeonatal Sepsis Group streptococcal Group streptococcal

(GBS)(GBS) major major pathogen pathogen

- - 80%80% presenting presenting during the during the 11stst week week of lifeof life

GBS associated GBS associated include hearing loss, include hearing loss, vision problems& vision problems& developmental delay developmental delay

MeningitisMeningitis = = common outcome common outcome

hearing loss hearing loss should be ruled out should be ruled out by by ABRABR in all in all survivors of survivors of neonatal neonatal meningitismeningitis

Neonatal SepsisNeonatal Sepsis MostMost neonatal neonatal

infections involve infections involve maternal-to-infant maternal-to-infant transmission of transmission of organisms organisms during during labor& deliverylabor& delivery

Risk increasesRisk increases with with prolonged labor +early prolonged labor +early membrane rupture, membrane rupture, preterm delivery & preterm delivery & maternal intrapartum maternal intrapartum fever fever

Positive maternal Positive maternal vaginal & rectal vaginal & rectal cultures within 5 weeks cultures within 5 weeks (35 to 37 weeks of GA)(35 to 37 weeks of GA) of expected delivery => of expected delivery => intrapartum antibioticsintrapartum antibiotics

Herpes Simplex Herpes Simplex EncephalitisEncephalitis

HSV-1 & HSV-2 serotypes( most recurrent HSV-1 & HSV-2 serotypes( most recurrent genital herpes)genital herpes)

An An initial clinicalinitial clinical episode of genital herpes episode of genital herpes during pregnancy should be treated with during pregnancy should be treated with oral acycloviroral acyclovir, but , but recurrentrecurrent episodes episodes during pregnancy during pregnancy should not be treatedshould not be treated


riskrisk of transmission from infected of transmission from infected mother to neonate is mother to neonate is highhigh => =>near near time of delivery (30%- 50%)time of delivery (30%- 50%)

- Delivery by - Delivery by cesarean sectioncesarean section serves serves to minimize the infant’s exposure to HSV to minimize the infant’s exposure to HSV if the mother has symptomatic infectionif the mother has symptomatic infection

Herpes simplex encephalitis Herpes simplex encephalitis (HSE)(HSE)

1:2,500 to 1:20,000 1:2,500 to 1:20,000 live birthslive births

Incubation period Incubation period up to 4 wksup to 4 wks, , neonatal herpes neonatal herpes simplex simplex meningoencephalitmeningoencephalitis is (HSE) during (HSE) during the 2the 2ndnd-3-3rdrd postpartum wkspostpartum wks

Nonspecific Nonspecific clinical findings clinical findings can coexist with can coexist with abnormal CSFabnormal CSF results in results in > 90%> 90% of of patientspatients

Neonatal HSV present withNeonatal HSV present with - mucocutaneous involvement or disseminated - mucocutaneous involvement or disseminated infectioninfection - 1/4 - 1/3 + meningoencephalitis- 1/4 - 1/3 + meningoencephalitis


EEG& imaging studies, CT& MRIEEG& imaging studies, CT& MRI detect focal meningoencephalitis & the detect focal meningoencephalitis & the

only only definitive DXdefinitive DX brain biopsybrain biopsy


In children In children with focal encephalitiswith focal encephalitis of of uncertain cause should addition to uncertain cause should addition to acycloviracyclovir, until a definitive Dx has been , until a definitive Dx has been reachedreached

Recommended therapyRecommended therapy for all infants having for all infants having evidence of neonatal herpes evidence of neonatal herpes - - IV acyclovirIV acyclovir (20 mg/kg body weight) q 8 hrs (20 mg/kg body weight) q 8 hrs - - 21 days (disseminated disease) 21 days (disseminated disease) - 14 days for isolated involvement of the skin and - 14 days for isolated involvement of the skin and mucous membranesmucous membranes

RubellaRubella Rubella virus - transmitted by a Rubella virus - transmitted by a

respiratory routerespiratory route

congenital rubella congenital rubella triadtriad of of deafness, deafness, congenital cataracts & heart defectscongenital cataracts & heart defects

SequelaeSequelaeinfants with prenatal rubella infants with prenatal rubella

infectioninfection Up to 90% during Up to 90% during

11stst GA < 11 wks GA < 11 wks

50% GA 11- 20 wks 50% GA 11- 20 wks may acquire the may acquire the infectioninfection (25% to 50%) => (25% to 50%) => primarily hearing primarily hearing lossloss

33rdrd trimester (> trimester (> GA 20th wk) =>GA 20th wk) => unlikelyunlikely to occur to occur

Congenital rubella syndrome Congenital rubella syndrome (CRS)(CRS)

NowNow includes includes cataracts or congenital cataracts or congenital glaucoma, congenital heart disease glaucoma, congenital heart disease (e.g. (e.g. patent ductus arteriosus or peripheral patent ductus arteriosus or peripheral pulmonary artery stenosispulmonary artery stenosis), hearing loss ), hearing loss & pigmentary retinopathy & pigmentary retinopathy

RubellaRubella Associated Associated purpura, purpura,

jaundice, jaundice, microcephaly, microcephaly, splenomegaly, mental splenomegaly, mental retardation, retardation, meningoencephalitis, meningoencephalitis, or radiologic evidence or radiologic evidence of long bone lucency of long bone lucency

Hearing loss, the most Hearing loss, the most prevalent disability in prevalent disability in CRSCRS,,

RubellaRubella

MostMost infants with asymptomatic infants with asymptomatic congenital rubella manifest sequelae congenital rubella manifest sequelae by by age 5 yearsage 5 years & & hearing loss is the hearing loss is the most common findingmost common finding

SNHLSNHL :variable in severity & :variable in severity & asymmetric asymmetric & audiogram => & audiogram => most most commonly( 500- 2,000 Hz)commonly( 500- 2,000 Hz)

Mumps and MeaslesMumps and Measles Spread by Spread by respiratory droplets respiratory droplets

During viremia, 12 to 25 days after During viremia, 12 to 25 days after exposure, exposure, salivary glands & meningessalivary glands & meninges can can be involved be involved

20% of mumps - asymptomatic20% of mumps - asymptomatic 40% to 50%40% to 50% limited primarily to limited primarily to

respiratory S/Srespiratory S/S

TypicalTypical parotitis parotitis ( 30% to 40% of cases) & ( 30% to 40% of cases) & aseptic meningitisaseptic meningitis

Mumps and MeaslesMumps and Measles 5/10,000 pts with5/10,000 pts with

mumps mumps => => hearing loss, hearing loss, sudden in onsetsudden in onset

- 80% => - 80% => unilateralunilateral, often + , often + tinnitus, vertigo, tinnitus, vertigo, N/VN/V

most commonmost common patients patients < 5 years< 5 years and and >20 years>20 years of age of age

15% - 25%15% - 25% of of survivors => survivors => neurologic neurologic sequelae +SNHLsequelae +SNHL

EIA & radial EIA & radial hemolysis hemolysis antibody testsantibody tests, , can also can also confirm confirm DXDX

Mumps and MeaslesMumps and Measles

most commonmost common patients patients < 5 years< 5 years and and >20 years>20 years of age of age

15% - 25%15% - 25% of survivors => of survivors => neurologic sequelae +SNHLneurologic sequelae +SNHL

Bacterial Meningitis & Vaccine Bacterial Meningitis & Vaccine DevelopmentDevelopment

19901990, , newer Hib conjugate vaccinesnewer Hib conjugate vaccines - - administration to administration to infants >2 months of infants >2 months of age age have decreased the incidence of have decreased the incidence of invasive Hib Dzinvasive Hib Dz

- - contraindicatedcontraindicated for for infants < 6 weeks infants < 6 weeks of ageof age to avoid inducing immunologic tolerance, to avoid inducing immunologic tolerance, rendering the child unresponsive to subsequent rendering the child unresponsive to subsequent dosesdoses

permanent neurologic sequelae, including permanent neurologic sequelae, including SNHL, in 10% to 15%SNHL, in 10% to 15% of survivors of survivors

Bacterial Meningitis & Vaccine Bacterial Meningitis & Vaccine DevelopmentDevelopment

Children Children < 2 years< 2 years => => mortality mortality rate highrate high (25%) & high incidence of (25%) & high incidence of SNHLSNHL

heptavalent pneumococcal vaccine is heptavalent pneumococcal vaccine is recommend for recommend for all children aged 2 to 23 all children aged 2 to 23 momo.& also for patients having .& also for patients having cochlear cochlear implant SXimplant SX

Postmeningitic Hearing Loss: Postmeningitic Hearing Loss: incidenceincidence

15%- 20%,15%- 20%, most = most = permanent, permanent, bilateralbilateral, often , often asymmetricasymmetric, severe to , severe to profound losses profound losses

- unilateral losses - 1/3 - unilateral losses - 1/3

Onset early in the clinical courseOnset early in the clinical course and and does not appear to be ameliorated by does not appear to be ameliorated by any specific antibioticany specific antibiotic

Postmeningitic Hearing Postmeningitic Hearing LossLoss

- administered - administered 2 hrs before 2 hrs before initiate ATB therapyinitiate ATB therapy

- preventing moderate to severe - preventing moderate to severe hearing loss in pediatric patients hearing loss in pediatric patients with Hib meningitis with Hib meningitis but not in cases but not in cases of pneumococcal etiologyof pneumococcal etiology

DexamethasoneDexamethasone

Anoxia and HypoxiaAnoxia and Hypoxia

Losses with onset Losses with onset > age 2> age 2 were were less severeless severe than later onset lossesthan later onset losses

Neonates with Neonates with chronic hypoxemiachronic hypoxemia related related to persistent fetal circulation experience a to persistent fetal circulation experience a 20% incidence of SNHL, 20% incidence of SNHL,

- ¾ moderate to severe range - ¾ moderate to severe range

- ¼ is profound- ¼ is profound

2 yrs age 35% had SNHL 2 yrs age 35% had SNHL 4 yrs age 53% : SNHL4 yrs age 53% : SNHL

HyperbilirubinemiaHyperbilirubinemia Manifestations of Manifestations of chronic chronic

postkernictericpostkernicteric - bilirubin encephalopathy, athetosis, - bilirubin encephalopathy, athetosis,

intellectual deficits, gaze disturbance & intellectual deficits, gaze disturbance & limitation of upward gaze & limitation of upward gaze & SNHLSNHL

ABR changesABR changes reflective of reflective of hearing losshearing loss

prolongation of wave V latency prolongation of wave V latency compared with the previous ABRcompared with the previous ABR

Noise-Induced Hearing LossNoise-Induced Hearing Loss

Often accompanied byOften accompanied by tinnitus tinnitus

Typically, initial Typically, initial + 3,000 -6,000 Hz+ 3,000 -6,000 Hz

““notch”notch” audiometric configuration audiometric configuration

Genetic SNHLGenetic SNHL

AutosomalAutosomal--Dominant Dominant Syndromic Hearing Syndromic Hearing

ImpairmentImpairment

- - Branchio Oto Renal Syndrome- - Branchio Oto Renal Syndrome

- External ear anomalies- External ear anomalies : preauricular pits : preauricular pits ((82%82%)), preauricular tags, auricular , preauricular tags, auricular malformations malformations ((32%32%)), microtia & EAC , microtia & EAC narrowingnarrowing

- - MM iddle ear anomalies iddle ear anomalies:: ossicular malformatio ossicular malformatio

n , facial nerve dehiscence, absence of the oval n , facial nerve dehiscence, absence of the oval window window && reduction in size of the middle ear cle reduction in size of the middle ear cle

ftft - - II nner ear anomalies nner ear anomalies : : cochlear hypoplasia cochlear hypoplasia &&

dysplasia Enlargement of the cochlear or vestib dysplasia Enlargement of the cochlear or vestib ular aqueducts may be hypoplasia of the lateral ular aqueducts may be hypoplasia of the lateral

semicircular canal semicircular canal

- - Branchio Oto Renal Syndrome- - Branchio Oto Renal Syndrome

Hearing impairment is the most Hearing impairment is the most commoncommon feature of BOR syndrome feature of BOR syndrome (close to 90%)(close to 90%)

- conductive - conductive ((30%30%))

- sensorineural - sensorineural ((20%20% ) ) - - mixed mixed ((50%50%)) :Severe: 1/3 of persons :Severe: 1/3 of persons

Progressive: 1/4Progressive: 1/4

- - Branchio Oto Renal Syndrome- - Branchio Oto Renal Syndrome Branchial anomaliesBranchial anomalies

occur in laterocervical occur in laterocervical fistulas, sinuses & fistulas, sinuses & cysts cysts & renal & renal anomaliesanomalies ranging ranging from agenesis to from agenesis to dysplasia (25% of dysplasia (25% of persons)persons)

Less common => Less common => lacrimal duct aplasia, short lacrimal duct aplasia, short palate & retrognathiapalate & retrognathia

Neurofibromatosis Type IINeurofibromatosis Type II development of development of bilateral vestibular bilateral vestibular

schwannomas & other intracranial & schwannomas & other intracranial & spinal tumorsspinal tumors ((schwannomas, schwannomas, meningiomas, gliomas, and ependymomasmeningiomas, gliomas, and ependymomas ) )

DX criteria :NF type IIDX criteria :NF type II

((11)) bilateral vestibular schwannomasbilateral vestibular schwannomas that usually that usually develop by develop by 2nd decade of life2nd decade of life; or ; or ((22)) FH of NFIIFH of NFII in a first in a first--degree relative, degree relative, plus oneplus one of the of the followingfollowing: : (a(a)) unilateral vestibular schwannomas at <30 yrs of ageunilateral vestibular schwannomas at <30 yrs of age ((bb)) any two of any two of meningiomameningioma, glioma, , glioma, schwannomaschwannoma, or juvenile , or juvenile posterior subcapsular lenticular opacitiesposterior subcapsular lenticular opacities//juvenile cortical cataractjuvenile cortical cataract

Neurofibromatosis Type IINeurofibromatosis Type II Hearing lossHearing loss is usually is usually high frequency SNHLhigh frequency SNHL

and and vertigo, tinnitus & facial nerve paralysisvertigo, tinnitus & facial nerve paralysis

+ imaging studies + imaging studies ((MRI)MRI)

Treatment of schwannomas usually =>Treatment of schwannomas usually => surgerysurgery

gamma knife is considered in select casesgamma knife is considered in select cases

Auditory brain stem implantsAuditory brain stem implants

DX:Stickler SyndromeDX:Stickler Syndrome ((11)) congenital vitreous anomalycongenital vitreous anomaly ((22)) any threeany three of of

((aa)) myopia with onset myopia with onset < 6 yrs< 6 yrs

((bb)) rhegmatogenous retinal detachment rhegmatogenous retinal detachment or paravascular pigmented lattice or paravascular pigmented lattice degenerationdegeneration

((cc)) joint hypermobility with abnormal joint hypermobility with abnormal Beighton scoreBeighton score

((dd)) SNHL SNHL ((audiometric confirmationaudiometric confirmation))

((ee)) midline cleftingmidline clefting

Stickler SyndromeStickler Syndrome Other - Other - craniofacial craniofacial

anomalies like midfacial anomalies like midfacial flattening, mandibular flattening, mandibular hypoplasia, short hypoplasia, short upturned nose, or a upturned nose, or a long philtrumlong philtrum

MicrognathiaMicrognathia= common = common => Robin sequence => Robin sequence with cleft palate with cleft palate ((28–28–65%65%)) , limited to a , limited to a submucous cleftsubmucous cleft

Stickler SyndromeStickler Syndrome

SNHLSNHL is more is more common in the common in the older ageolder age groups groups

SS SS type Itype I have have either either normal normal hearing or only a hearing or only a mild impairmentmild impairment

- SS - SS type IItype II fall in fall in

betweenbetween - SS - SS type IIItype III tend to tend to

have have moderatemoderate--toto--severe hearing losssevere hearing loss

Stickler SyndromeStickler Syndrome

Ocular findingsOcular findings in SS are its in SS are its most most prevalentprevalent feature feature

MostMost => => myopicmyopic

others= vitreoretinal degeneration, others= vitreoretinal degeneration, retinal detachment, cataract, & blindnessretinal detachment, cataract, & blindness

Waardenburg SyndromeWaardenburg Syndrome WS type IWS type I

=>=> SNHL SNHL, white forelock, , white forelock, pigmentary pigmentary disturbances of the irisdisturbances of the iris, & dystopia , & dystopia canthorum, canthorum, displacement of the inner displacement of the inner canthi & lacrimal canthi & lacrimal punctipuncti

Other Other == synophryssynophrys , broad nasal root, , broad nasal root, hyhy poplasia of the alae nasi poplasia of the alae nasi , patent metopic su , patent metopic su

tureture & & square jaw square jaw

Waardenburg SyndromeWaardenburg Syndrome WS type IIWS type II is distinguished from WS type is distinguished from WS type

I by the I by the absence of dystopia canthorumabsence of dystopia canthorum

WS type IIIWS type III (Klein (Klein--Waardenburg Waardenburg syndrome) by WS type I syndrome) by WS type I + hypoplasia or + hypoplasia or contracture of the upper limbscontracture of the upper limbs

WS type IVWS type IV (Waardenburg (Waardenburg--Shah Shah syndrome) & involves the association of syndrome) & involves the association of WS WS with Hirschsprung diseasewith Hirschsprung disease

WS: congenital hearing WS: congenital hearing impairmentimpairment

WS WS type Itype I : 36% to 66.7% : 36% to 66.7%

WS WS type IItype II : 57% to 85% : 57% to 85%

Most commonlyMost commonly, the loss affects persons , the loss affects persons with with more than one pigmentation more than one pigmentation abnormality & profound, bilateral, and abnormality & profound, bilateral, and stablestable

Audiogram Audiogram = variable, with = variable, with lowlow--frequency frequency lossloss (more common) (more common)

TreacherTreacher--Collins SyndromeCollins Syndrome Abnormalities of Abnormalities of

craniofacialcraniofacial developmentdevelopment

Maldevelopment of Maldevelopment of the maxilla & the maxilla & mandiblemandible, with , with abnormal canthi abnormal canthi placement, placement, ocular ocular colobomascolobomas, choanal , choanal atresia & atresia & CHL CHL secondary to ossicular secondary to ossicular fixationfixation

AutosomalAutosomal--Recessive Recessive Syndromic Hearing Syndromic Hearing

ImpairmentImpairment

Pendred SyndromePendred Syndrome associate associate

congenital congenital deafness with deafness with thyroid goiterthyroid goiter

75 10. to per 75 10. to per 100000, pe 100000, pe

uu uu , uu uu , 10% of he 10% of he redi t ary deaf nes redi t ary deaf nes

ss

develop in develop in second decadesecond decade

Pendred SyndromePendred Syndrome usually usually prelingual , prelingual ,

bilateral & profoundbilateral & profound, , although it can be although it can be progressiveprogressive

RadiologicRadiologic studies studies :: - - temporal bone ano temporal bone ano

maly, either maly, either dilated ve dilated ve stibular aqueducts (D stibular aqueducts (D

VAs) VAs) oror

-- Mondini dysplasia Mondini dysplasia

Jervell and LangeJervell and Lange--Nielsen Nielsen SyndromeSyndrome

CC ongenital deafness, prolonged QT int ongenital deafness, prolonged QT int erval erval && syncopal attacks syncopal attacks

The The dominant dominant diseasedisease(( - Romano Ward s- Romano Ward syndromeyndrome)) does does not not include the deafnes include the deafnes s phenotype s phenotype

The The recessiverecessive disease is disease is Jervell and La Jervell and La- nge Nielsen syndrome (JLNS)- nge Nielsen syndrome (JLNS)

Jervell and LangeJervell and Lange--Nielsen Nielsen SyndromeSyndrome

congenital, bilateral & severe to congenital, bilateral & severe to profoundprofound

The prolonged QT interval can lead The prolonged QT interval can lead to to ventricular arrhythmias, syncopal ventricular arrhythmias, syncopal episodes & deathepisodes & death in childhood in childhood

Effective treatment with Effective treatment with beta-adrenergic blockerbeta-adrenergic blockerss reduces mortality from reduces mortality from 71% to 6%71% to 6%

Usher SyndromeUsher Syndrome SNHLSNHL , retinitis pigm , retinitis pigm

entosaentosa && often often vestibvestib ular dysfunction ular dysfunction

Prevalence 4.4/ 100,000 Prevalence 4.4/ 100,000 USAUSA

- 3% to 6%- 3% to 6% of of congenitally congenitally deafdeaf persons carrying this persons carrying this DXDX

- cause of - cause of 50% of deaf50% of deaf--blindness in the United blindness in the United StatesStates

Usher SyndromeUsher Syndrome :types I, II and :types I, II and IIIIII

Type IType I = severe = severe--toto--profound SNHL, profound SNHL, vestibular vestibular dysfunctiondysfunction, retinitis pigmentosa , retinitis pigmentosa

type IItype II = moderate = moderate--toto--severe congenital severe congenital SNHL, with uncertainty related to SNHL, with uncertainty related to progression, progression, no vestibular dysfunctionno vestibular dysfunction, and , and retinal degeneration that begins in the retinal degeneration that begins in the third to third to fourth decadefourth decade

type IIItype III = = progressive hearing lossprogressive hearing loss, variable , variable vestibular dysfunction, and variable onset of vestibular dysfunction, and variable onset of retinitis pigmentosaretinitis pigmentosa

XX--Linked SyndromesLinked Syndromes

Alport SyndromeAlport Syndrome hematuric nephr hematuric nephr

itis, hearing itis, hearingimpairment impairment && ocular changesocular changes

symmetric, highsymmetric, high--frequency SNHLfrequency SNHL that can be that can be detected by detected by late late childhoodchildhood & & progresses => progresses => all frequenciesall frequencies

Alport SyndromeAlport Syndrome

controlling high controlling high BP &BP & restricting salt, pr restricting salt, pr ot ei n ot ei n && phosphat e i n t he di et phosphat e i n t he di et => => dialdial

ysis and kidney transplant may be neces ysis and kidney transplant may be necessarysary

Diagnostic criteria include Diagnostic criteria include at least threeat least three of the following of the following four characteristicsfour characteristics ((11)) positive FHpositive FH of hematuria with or without CRF of hematuria with or without CRF (2(2)) progressive highprogressive high--tone tone SN deafnessSN deafness ((33)) typical typical eye lesioneye lesion ((anterior lenticonus, andanterior lenticonus, and//or or macular flecksmacular flecks)) ((44)) histologic changes of the histologic changes of the glomerular BMglomerular BM of the of the kidneykidney

Mitochondrial SyndromesMitochondrial Syndromes multisystemic, with multisystemic, with hearing losshearing loss

present in present in 70%70% of affected persons of affected persons

AutosomalAutosomal--Recessive Recessive Nonsyndromic Hearing Nonsyndromic Hearing

ImpairmentImpairment usually usually prelingual & severe prelingual & severe

to profound across all to profound across all frequenciesfrequencies

PATIENT MANAGEMENTPATIENT MANAGEMENT TeamTeam of health care of health care

II nheritance patterns, nheritance patterns, aa udiometric characteristics udiometric characteristics

, , syndromic vs syndromic vs nonsyndromic features nonsyndromic features are necessaryare necessary

Directed at providing Directed at providing appropriate appropriate amplification as soon amplification as soon as possibleas possible

Cochlear Cochlear implantationimplantation => => option for persons option for persons with severewith severe--toto--profound deafnessprofound deafness

Deaf cul t ure Deaf cul t ure con con sider themselves sider themselves

Sensorineural hearing loss in children & Cochlear Implant.

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