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Sensorineural hearing loss in children & Cochlear Implant.

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1 Sensorineural hearing loss in children & Cochlear Implant

2 Sensorineural hearing loss in children 1 non genetic SNHL 1 non genetic SNHL 2 genetic SNHL 2 genetic SNHL syndromic syndromic non-syndromic non-syndromic

3 SNHL in children Permanent congenital or early onset hearing loss in the moderate to profound range (41 to 100 dB) Permanent congenital or early onset hearing loss in the moderate to profound range (41 to 100 dB) Intervention instituted < 6 months of age lead to poor academic performance & school behavior problems

4 30% - 40% of children with hearing loss => health-related developmental + communicative development 30% - 40% of children with hearing loss => health-related developmental + communicative development Early Hearing Detection& Intervention (EHDI) studies of universal newborn hearing screening Early Hearing Detection& Intervention (EHDI) studies of universal newborn hearing screening - evoked otoacoustic emissions (EOAE) - evoked otoacoustic emissions (EOAE) - automated auditory brainstem response (AABR) - automated auditory brainstem response (AABR)

5 National EHDI goals (a) all newborns will be screened for hearing loss < 1 month of age (a) all newborns will be screened for hearing loss < 1 month of age (b) all infants who screen positive will have a diagnostic audiologic assess < 3 months of age (b) all infants who screen positive will have a diagnostic audiologic assess < 3 months of age (c) infants identified with a hearing loss will begin receiving early intervention services < 6 months of age (c) infants identified with a hearing loss will begin receiving early intervention services < 6 months of age

6 EVALUATION Multidisciplinary team Multidisciplinary team Hx Hx - prenatal, birth& postnatal history & FH for hearing loss - prenatal, birth& postnatal history & FH for hearing loss - speech or language disorders;ENT disorders & craniofacial deformities, such syndromic features ( kidney disorders, sudden death of a family member at a young age, thyroid disease, intracranial tumors, progressive blindness and cafe au lait spots ) - speech or language disorders;ENT disorders & craniofacial deformities, such syndromic features ( kidney disorders, sudden death of a family member at a young age, thyroid disease, intracranial tumors, progressive blindness and cafe au lait spots ) - marital pedigree - marital pedigree

7 PE HL syndromes ( auricular displacement or malformation, preauricular or branchial pits, white forelock, heterochromia irides, blue sclerae, dystopia canthorum, facial asymmetry, and cafe aulait spots ) & vision test HL syndromes ( auricular displacement or malformation, preauricular or branchial pits, white forelock, heterochromia irides, blue sclerae, dystopia canthorum, facial asymmetry, and cafe aulait spots ) & vision test

8 ECG, hemato & chem, TFT, tests for congenital infection ECG, hemato & chem, TFT, tests for congenital infection [e.g., toxoplasmosis, syphilils,CMV], renal U/S & temporal bone imaging [e.g., toxoplasmosis, syphilils,CMV], renal U/S & temporal bone imaging Childhood deafness, confirm lab within first weeks of life Childhood deafness, confirm lab within first weeks of life

9 NONGENETIC DX

10 Cytomegalovirus Infection Most prevalent cause of intrauterine viral infection Most prevalent cause of intrauterine viral infection Direct transmission of CMV Direct transmission of CMV - vertically or horizontally - vertically or horizontally Primary infection can lead to months or years of viral shedding in saliva, urine, semen & cervical or vaginal fluids Primary infection can lead to months or years of viral shedding in saliva, urine, semen & cervical or vaginal fluids Particular CMV => VIII th nerve Particular CMV => VIII th nerve

11 Cytomegalovirus Infection Congenital CMV infection rate - high (20% to 25%) Congenital CMV infection rate - high (20% to 25%) - lower socioeconomic - lower socioeconomic - mothers < 20 years of age, most of whom are unmarried (80% in one study) - mothers < 20 years of age, most of whom are unmarried (80% in one study)

12 Cytomegalovirus Infection Perinatally infected infants - pneumonitis, slow weight gain, adenopathy, rash, jaundice, anemia & atypical lymphocytosis Perinatally infected infants - pneumonitis, slow weight gain, adenopathy, rash, jaundice, anemia & atypical lymphocytosis shed virus in bodily secretions from birth and peri- postnatally infected infants can begin excreting virus between 3 and 12 weeks of age shed virus in bodily secretions from birth and peri- postnatally infected infants can begin excreting virus between 3 and 12 weeks of age Definitive Dx - viral isolation from urine or saliva e.g PCR within the first 2 weeks of life Definitive Dx - viral isolation from urine or saliva e.g PCR within the first 2 weeks of life

13 10% - 15% symptomatic CMV 10% - 15% symptomatic CMV 90% having cytomegalic inclusion disease (CID), with involve CNS & RE system, hepatosplenomegaly, petechiae & jaundice 90% having cytomegalic inclusion disease (CID), with involve CNS & RE system, hepatosplenomegaly, petechiae & jaundice

14 Cytomegalovirus Infection 2 years of age=> nearly all infants with CID 2 years of age=> nearly all infants with CID - Severe mental& perceptual deficits, with severe to profound SNHL & chorioretinitis & optic atrophy in 25% to 30% of cases - Severe mental& perceptual deficits, with severe to profound SNHL & chorioretinitis & optic atrophy in 25% to 30% of cases 90% of CMV-infected neonates who are asymptomatic at birth- improved prognosis ( neuro development), but other sequelae, including SNHL (10% to 15% of cases), can develop

15 Cytomegalovirus Infection Congenital CMV infection – 1/3 of sensorineural impairments in young children Congenital CMV infection – 1/3 of sensorineural impairments in young children develop permanent CMV - related hearing impairment, which can be delayed months or years develop permanent CMV - related hearing impairment, which can be delayed months or years Fluctuate & progress in severity over time Fluctuate & progress in severity over time

16 Cytomegalovirus Infection Limited antiviral therapy trials (ganciclovir- treated group) After 6 months of F/U with ABR Limited antiviral therapy trials (ganciclovir- treated group) After 6 months of F/U with ABR -84% improved hearing /maintained normal ABR -84% improved hearing /maintained normal ABR - 59% of nontreated controls - 59% of nontreated controls At 1 year, At 1 year, 21% of the treatment group did have more hearing loss 21% of the treatment group did have more hearing loss full 68% of controls also showed a worsening of auditory thresholds full 68% of controls also showed a worsening of auditory thresholds

17 Congenital Toxoplasmosis

18 reproduce, and disseminate to infect tissues such as the CNS, eye, skeletal & cardiac muscle & placenta reproduce, and disseminate to infect tissues such as the CNS, eye, skeletal & cardiac muscle & placenta

19 Congenital Toxoplasmosis Fetal infection varies Fetal infection varies 15% in the 1 st trimester 15% in the 1 st trimester 30% in 2 nd trimester 30% in 2 nd trimester 60% in 3 rd trimester 60% in 3 rd trimester Highest risk of severe congenital toxoplasmosis associated with primary maternal infection (weeks of preg) Highest risk of severe congenital toxoplasmosis associated with primary maternal infection (weeks of preg) Spiramycin administered to expectant mothers with documented primary infection during pregnancy can reduce transmission to the fetus up to 60% Spiramycin administered to expectant mothers with documented primary infection during pregnancy can reduce transmission to the fetus up to 60%

20 Congenital Toxoplasmosis 75% - 80% - asymptomatic at birth 75% - 80% - asymptomatic at birth 15%- eye findings 15%- eye findings 10% - severely involved 10% - severely involved Untreated neonates with subclinical infection are at high risk for later chorioretinitis with decreasing VA (up to 85% by age 20) Untreated neonates with subclinical infection are at high risk for later chorioretinitis with decreasing VA (up to 85% by age 20) - progressive CNS involvement with decreased intellectual function, deafness & precocious puberty - progressive CNS involvement with decreased intellectual function, deafness & precocious puberty

21 Congenital Toxoplasmosis Studies of prenatal treatment of infected mothers reveal a 0.6% fetal infection rate - in early pregnancy Studies of prenatal treatment of infected mothers reveal a 0.6% fetal infection rate - in early pregnancy - 3.7% during the 6th to 16 th wk(GA) - 3.7% during the 6th to 16 th 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 spiramycin - 1st-2nd trimester 2 pyrimethamine & sulfadiazine late second trimester may reduce the frequency of transplacental transmission & serious fetal sequelae late second trimester may reduce the frequency of transplacental transmission & serious fetal sequelae 3 folinic acid – ameliorate bone marrow suppression

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

23 Congenital Toxoplasmosis S/S S/S may be hydrocephalus, microcephaly, intracranial calcifications, chorioretinitis, strabismus, blindness, epilepsy, psychomotor, thrombocytopenia c petechiae & anemia may be hydrocephalus, microcephaly, intracranial calcifications, chorioretinitis, strabismus, blindness, epilepsy, psychomotor, thrombocytopenia c petechiae & anemia

24 Congenital Toxoplasmosis PCR confirms detect T. gondii DNA PCR confirms detect T. gondii DNA Offspring of mothers with maternal infection should be treated for up to 1 year Offspring of mothers with maternal infection should be treated for up to 1 year F/U - CT scans to assess CNS status? - CT scans to assess CNS status? - ophthalmo. exam for chorioretinitis? - ophthalmo. exam for chorioretinitis? - audio evaluation to detect delayed onset hearing loss? - audio evaluation to detect delayed onset hearing loss?

25 Congenital Toxoplasmosis 15% - 25% of untreated => develope SNHL 15% - 25% of untreated => develope SNHL 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

26 Congenital Syphilis CS caused by transplacental transmission of spirochete Treponema pallidum CS caused by transplacental transmission of spirochete Treponema pallidum may be obvious at birth or late as the fifth decade of life may be obvious at birth or late as the fifth decade of life most likely during most likely during - primary syphilis (70% to 100%) - primary syphilis (70% to 100%) - late stage (30%) - late stage (30%)

27 CS,early-onset(first 3 months of life) associated with maternal infection early in pregnancy associated with maternal infection early in pregnancy infants = LBW with hepatosplenomegaly & mucocutaneous & rhinitis (snuffles) infants = LBW with hepatosplenomegaly & mucocutaneous & rhinitis (snuffles) diffuse, maculopapular, desquamating skin rash + palms & soles of the feet

28 Classic stigmata of congenital syphilis SNHL, interstitial keratitis, Hutchinson teeth (notched incisors), mulberry molars, Clutton joints (bilateral painless knee effusions), nasal septal perforation & saddle deformity& frontal bossing. Skeletal findings osteochondritis& periostitis of long bones SNHL, interstitial keratitis, Hutchinson teeth (notched incisors), mulberry molars, Clutton joints (bilateral painless knee effusions), nasal septal perforation & saddle deformity& frontal bossing. Skeletal findings osteochondritis& periostitis of long bones

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

30 Congenital Syphilis Offspring of seroreactive mothers should undergo scrutiny for signs of CS, in addition to histopathologic exam of the placenta or umbilical cord using fluorescent antitreponemal antibody staining techniques Offspring of seroreactive mothers should undergo scrutiny for signs of CS, in addition to histopathologic exam of the placenta or umbilical cord using fluorescent antitreponemal antibody staining techniques If maternal syphilis had been treated by an adequate regimen, the infant should be treated unless a fourfold decrease in nontreponemal maternal antibody was documented If maternal syphilis had been treated by an adequate regimen, the infant should be treated unless a fourfold decrease in nontreponemal maternal antibody was documented

31 Congenital Syphilis Prevalence hearing loss with CS = 3%- 38% Prevalence hearing loss with CS = 3%- 38% - 37% of cases < age % of cases < age % between years of age - 51% between years of age - 12% even later in life - 12% even later in life Audiologic follow-up Audiologic follow-up

32 Congenital Syphilis Audiometric configuration= Audiometric configuration= bilateral, flat SNHL, which can present in children as a sudden, bilateral profound impairment, usually without vertigo bilateral, flat SNHL, which can present in children as a sudden, bilateral profound impairment, usually without vertigo

33 Congenital Syphilis Late CS, the hearing loss can be sudden, asymmetric, fluctuating, and progressive, accompanied often by episodic tinnitus and vertigo Late CS, the hearing loss can be sudden, asymmetric, fluctuating, and progressive, accompanied often by episodic tinnitus and vertigo Poor SDS are typically, loudness recruitment severe & caloric response weak to absent Poor SDS are typically, loudness recruitment severe & caloric response weak to absent A positive labyrinththine fistula test may be present (Hennebert sign) & Tullio phenomenon, disequilibrium A positive labyrinththine fistula test may be present (Hennebert sign) & Tullio phenomenon, disequilibrium

34 Congenital Syphilis FTA-ABS = high sensitivity & specificity rate 98% FTA-ABS = high sensitivity & specificity rate 98% False-positive findings => Pt. with autoimmune or drug-induced collagen vascular Dz False-positive findings => Pt. with autoimmune or drug-induced collagen vascular Dz Confirmatory tests Confirmatory tests – microhemagglutination assay for T. pallidum (MHA-TP)& the T. pallidum inhibition test (TPI), which is highly specific (99%) – microhemagglutination assay for T. pallidum (MHA-TP)& the T. pallidum inhibition test (TPI), which is highly specific (99%)

35 Congenital Syphilis Offspring of seropositive mother should be monitored with nontreponemal antibody tests at 1, 2, 4, 6, and 12 months of age Offspring of seropositive mother should be monitored with nontreponemal antibody tests at 1, 2, 4, 6, and 12 months of age Stable or rising titers by 6 months age = indication for reevaluation & treatment Stable or rising titers by 6 months age = indication for reevaluation & treatment Infants with neurosyphilis should have serial LP at 6- month intervals until the spinal fluid is normal Infants with neurosyphilis should have serial LP at 6- month intervals until the spinal fluid is normal

36 Congenital Syphilis The treatment of choice = high dose parenteral penicillin The treatment of choice = high dose parenteral penicillin Systemic corticosteroids (oral prednisone) may be effective in stabilizing or improving hearing in approximately 50% of patients with syphilitic deafness Systemic corticosteroids (oral prednisone) may be effective in stabilizing or improving hearing in approximately 50% of patients with syphilitic deafness SDS may show greater improvement than pure tone thresholds SDS may show greater improvement than pure tone thresholds

37 Neonatal Sepsis Group streptococcal (GBS) major pathogen Group streptococcal (GBS) major pathogen - 80% presenting during the 1 st week of life - 80% presenting during the 1 st week of life GBS associated include hearing loss, vision problems& developmental delay GBS associated include hearing loss, vision problems& developmental delay Meningitis = common outcome hearing loss should be ruled out by ABR in all survivors of neonatal meningitis

38 Neonatal Sepsis Most neonatal infections involve maternal-to- infant transmission of organisms during labor& delivery Most neonatal infections involve maternal-to- infant transmission of organisms during labor& delivery Risk increases with prolonged labor +early membrane rupture, preterm delivery & maternal intrapartum fever Positive maternal vaginal & rectal cultures within 5 weeks (35 to 37 weeks of GA) of expected delivery => intrapartum antibiotics

39 Herpes Simplex Encephalitis HSV-1 & HSV-2 serotypes( most recurrent genital herpes) HSV-1 & HSV-2 serotypes( most recurrent genital herpes) An initial clinical episode of genital herpes during pregnancy should be treated with oral acyclovir, but recurrent episodes during pregnancy should not be treated An initial clinical episode of genital herpes during pregnancy should be treated with oral acyclovir, but recurrent episodes during pregnancy should not be treated

40 Herpes Simplex Encephalitis risk of transmission from infected mother to neonate is high =>near time of delivery (30%- 50%) risk of transmission from infected mother to neonate is high =>near time of delivery (30%- 50%) - Delivery by cesarean section serves to minimize the infants exposure to HSV if the mother has symptomatic infection - Delivery by cesarean section serves to minimize the infants exposure to HSV if the mother has symptomatic infection

41 Herpes simplex encephalitis (HSE) 1:2,500 to 1:20,000 live births 1:2,500 to 1:20,000 live births Incubation period up to 4 wks, neonatal herpes simplex meningoencephalitis (HSE) during the 2 nd -3 rd postpartum wks Incubation period up to 4 wks, neonatal herpes simplex meningoencephalitis (HSE) during the 2 nd -3 rd postpartum wks Nonspecific clinical findings can coexist with abnormal CSF results in > 90% of patients Neonatal HSV present with - mucocutaneous involvement or disseminated infection - mucocutaneous involvement or disseminated infection - 1/4 - 1/3 + meningoencephalitis - 1/4 - 1/3 + meningoencephalitis

42 Herpes Simplex Encephalitis EEG& imaging studies, CT& MRI EEG& imaging studies, CT& MRI detect focal meningoencephalitis & the only definitive DX brain biopsy detect focal meningoencephalitis & the only definitive DX brain biopsy

43 Herpes Simplex Encephalitis In children with focal encephalitis of uncertain cause should addition to acyclovir, until a definitive Dx has been reached In children with focal encephalitis of uncertain cause should addition to acyclovir, until a definitive Dx has been reached Recommended therapy for all infants having evidence of neonatal herpes - IV acyclovir (20 mg/kg body weight) q 8 hrs - IV acyclovir (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 mucous membranes - 14 days for isolated involvement of the skin and mucous membranes

44 Rubella Rubella virus - transmitted by a respiratory route Rubella virus - transmitted by a respiratory route congenital rubella triad of deafness, congenital cataracts & heart defects congenital rubella triad of deafness, congenital cataracts & heart defects

45 Sequelae infants with prenatal rubella infection Sequelae infants with prenatal rubella infection Up to 90% during 1 st GA < 11 wks Up to 90% during 1 st GA < 11 wks 50% GA wks may acquire the infection (25% to 50%) => primarily hearing loss 50% GA wks may acquire the infection (25% to 50%) => primarily hearing loss 3 rd trimester (> GA 20th wk) => unlikely to occur

46 Congenital rubella syndrome (CRS) Now includes cataracts or congenital glaucoma, congenital heart disease (e.g. patent ductus arteriosus or peripheral pulmonary artery stenosis), hearing loss & pigmentary retinopathy Now includes cataracts or congenital glaucoma, congenital heart disease (e.g. patent ductus arteriosus or peripheral pulmonary artery stenosis), hearing loss & pigmentary retinopathy

47 Rubella Associated purpura, jaundice, microcephaly, splenomegaly, mental retardation, meningoencephalitis, or radiologic evidence of long bone lucency Associated purpura, jaundice, microcephaly, splenomegaly, mental retardation, meningoencephalitis, or radiologic evidence of long bone lucency Hearing loss, the most prevalent disability in CRS, Hearing loss, the most prevalent disability in CRS,

48 Rubella Most infants with asymptomatic congenital rubella manifest sequelae by age 5 years & hearing loss is the most common finding Most infants with asymptomatic congenital rubella manifest sequelae by age 5 years & hearing loss is the most common finding SNHL :variable in severity & asymmetric & audiogram => most commonly( ,000 Hz) SNHL :variable in severity & asymmetric & audiogram => most commonly( ,000 Hz)

49 Mumps and Measles Spread by respiratory droplets Spread by respiratory droplets During viremia, 12 to 25 days after exposure, salivary glands & meninges can be involved During viremia, 12 to 25 days after exposure, salivary glands & meninges can be involved 20% of mumps - asymptomatic 20% of mumps - asymptomatic 40% to 50% limited primarily to respiratory S/S 40% to 50% limited primarily to respiratory S/S Typical parotitis ( 30% to 40% of cases) & aseptic meningitis Typical parotitis ( 30% to 40% of cases) & aseptic meningitis

50 Mumps and Measles 5/10,000 pts with mumps => hearing loss, sudden in onset 5/10,000 pts with mumps => hearing loss, sudden in onset - 80% => unilateral, often + tinnitus, vertigo, N/V - 80% => unilateral, often + tinnitus, vertigo, N/V most common patients 20 years of age most common patients 20 years of age 15% - 25% of survivors => neurologic sequelae +SNHL EIA & radial hemolysis antibody tests, can also confirm DX

51 Mumps and Measles most common patients 20 years of age most common patients 20 years of age 15% - 25% of survivors => neurologic sequelae +SNHL 15% - 25% of survivors => neurologic sequelae +SNHL

52 Bacterial Meningitis & Vaccine Development 1990, newer Hib conjugate vaccines - administration to infants >2 months of age have decreased the incidence of invasive Hib Dz 1990, newer Hib conjugate vaccines - administration to infants >2 months of age have decreased the incidence of invasive Hib Dz - contraindicated for infants < 6 weeks of age to avoid inducing immunologic tolerance, rendering the child unresponsive to subsequent doses - contraindicated for infants < 6 weeks of age to avoid inducing immunologic tolerance, rendering the child unresponsive to subsequent doses permanent neurologic sequelae, including SNHL, in 10% to 15% of survivors permanent neurologic sequelae, including SNHL, in 10% to 15% of survivors

53 Bacterial Meningitis & Vaccine Development Children mortality rate high (25%) & high incidence of SNHL Children mortality rate high (25%) & high incidence of SNHL heptavalent pneumococcal vaccine is recommend for all children aged 2 to 23 mo.& also for patients having cochlear implant SX heptavalent pneumococcal vaccine is recommend for all children aged 2 to 23 mo.& also for patients having cochlear implant SX

54 Postmeningitic Hearing Loss: incidence 15%- 20%, most = permanent, bilateral, often asymmetric, severe to profound losses 15%- 20%, most = permanent, bilateral, often asymmetric, severe to profound losses - unilateral losses - 1/3 - unilateral losses - 1/3 Onset early in the clinical course and does not appear to be ameliorated by any specific antibiotic Onset early in the clinical course and does not appear to be ameliorated by any specific antibiotic

55 Postmeningitic Hearing Loss - administered 2 hrs before initiate ATB therapy - administered 2 hrs before initiate ATB therapy - preventing moderate to severe hearing loss in pediatric patients with Hib meningitis but not in cases of pneumococcal etiology - preventing moderate to severe hearing loss in pediatric patients with Hib meningitis but not in cases of pneumococcal etiology Dexamethasone Dexamethasone

56 Anoxia and Hypoxia Losses with onset > age 2 were less severe than later onset losses Losses with onset > age 2 were less severe than later onset losses Neonates with chronic hypoxemia related to persistent fetal circulation experience a 20% incidence of SNHL, Neonates with chronic hypoxemia related to persistent fetal circulation experience a 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% : SNHL 4 yrs age 53% : SNHL

57 Hyperbilirubinemia Manifestations of chronic postkernicteric Manifestations of chronic postkernicteric - bilirubin encephalopathy, athetosis, intellectual deficits, gaze disturbance & limitation of upward gaze & SNHL - bilirubin encephalopathy, athetosis, intellectual deficits, gaze disturbance & limitation of upward gaze & SNHL ABR changes reflective of hearing loss ABR changes reflective of hearing loss prolongation of wave V latency compared with the previous ABR prolongation of wave V latency compared with the previous ABR

58 Noise-Induced Hearing Loss Often accompanied by tinnitus Often accompanied by tinnitus Typically, initial + 3,000 -6,000 Hz Typically, initial + 3,000 -6,000 Hz notch audiometric configuration notch audiometric configuration

59 Genetic SNHL

60 Autosomal-Dominant Syndromic Hearing Impairment

61 Branchio-Oto-Renal Syndrome - External ear anomalies : preauricular pits (82%), preauricular tags, auricular malformations (32%), microtia & EAC narrowing - External ear anomalies : preauricular pits (82%), preauricular tags, auricular malformations (32%), microtia & EAC narrowing - Middle ear anomalies: ossicular malformation, facial nerve dehiscence, absence of the oval window & reduction in size of the middle ear cleft - Middle ear anomalies: ossicular malformation, facial nerve dehiscence, absence of the oval window & reduction in size of the middle ear cleft - Inner ear anomalies : cochlear hypoplasia & dysplasia Enlargement of the cochlear or vestibular aqueducts may be hypoplasia of the lateral semicircular canal - Inner ear anomalies : cochlear hypoplasia & dysplasia Enlargement of the cochlear or vestibular aqueducts may be hypoplasia of the lateral semicircular canal

62 Branchio-Oto-Renal Syndrome Hearing impairment is the most common feature of BOR syndrome (close to 90%) Hearing impairment is the most common feature of BOR syndrome (close to 90%) - conductive (30%) - conductive (30%) - sensorineural (20%) - sensorineural (20%) - mixed (50%) - mixed (50%) :Severe: 1/3 of persons :Severe: 1/3 of persons Progressive: 1/4 Progressive: 1/4

63 Branchio-Oto-Renal Syndrome Branchial anomalies occur in laterocervical fistulas, sinuses & cysts & renal anomalies ranging from agenesis to dysplasia (25% of persons) Branchial anomalies occur in laterocervical fistulas, sinuses & cysts & renal anomalies ranging from agenesis to dysplasia (25% of persons) Less common => lacrimal duct aplasia, short palate & retrognathia Less common => lacrimal duct aplasia, short palate & retrognathia

64 Neurofibromatosis Type II development of bilateral vestibular schwannomas & other intracranial & spinal tumors (schwannomas, meningiomas, gliomas, and ependymomas) development of bilateral vestibular schwannomas & other intracranial & spinal tumors (schwannomas, meningiomas, gliomas, and ependymomas)

65 DX criteria :NF type II (1) bilateral vestibular schwannomas that usually develop by 2nd decade of life; or (2) FH of NFII in a first-degree relative, plus one of the following: (a) unilateral vestibular schwannomas at <30 yrs of age (a) unilateral vestibular schwannomas at <30 yrs of age (b) any two of meningioma, glioma, schwannoma, or juvenile posterior subcapsular lenticular opacities/juvenile cortical cataract (b) any two of meningioma, glioma, schwannoma, or juvenile posterior subcapsular lenticular opacities/juvenile cortical cataract

66 Neurofibromatosis Type II Hearing loss is usually high frequency SNHL and vertigo, tinnitus & facial nerve paralysis Hearing loss is usually high frequency SNHL and vertigo, tinnitus & facial nerve paralysis + imaging studies (MRI) + imaging studies (MRI) Treatment of schwannomas usually => surgery Treatment of schwannomas usually => surgery gamma knife is considered in select cases gamma knife is considered in select cases Auditory brain stem implants Auditory brain stem implants

67 DX:Stickler Syndrome (1) congenital vitreous anomaly (1) congenital vitreous anomaly (2) any three of (2) any three of (a) myopia with onset < 6 yrs (a) myopia with onset < 6 yrs (b) rhegmatogenous retinal detachment or paravascular pigmented lattice degeneration (b) rhegmatogenous retinal detachment or paravascular pigmented lattice degeneration (c) joint hypermobility with abnormal Beighton score (c) joint hypermobility with abnormal Beighton score (d) SNHL (audiometric confirmation) (d) SNHL (audiometric confirmation) (e) midline clefting (e) midline clefting

68 Stickler Syndrome Other - craniofacial anomalies like midfacial flattening, mandibular hypoplasia, short upturned nose, or a long philtrum Other - craniofacial anomalies like midfacial flattening, mandibular hypoplasia, short upturned nose, or a long philtrum Micrognathia= common => Robin sequence with cleft palate (28–65%), limited to a submucous cleft Micrognathia= common => Robin sequence with cleft palate (28–65%), limited to a submucous cleft

69 Stickler Syndrome SNHL is more common in the older age groups SNHL is more common in the older age groups SS type I have either normal hearing or only a mild impairment - SS type II fall in between - SS type III tend to have moderate-to-severe hearing loss

70 Stickler Syndrome Ocular findings in SS are its most prevalent feature Ocular findings in SS are its most prevalent feature Most => myopic Most => myopic others= vitreoretinal degeneration, retinal detachment, cataract, & blindness others= vitreoretinal degeneration, retinal detachment, cataract, & blindness

71 Waardenburg Syndrome WS type I WS type I => SNHL, white forelock, pigmentary disturbances of the iris, & dystopia canthorum, displacement of the inner canthi & lacrimal puncti => SNHL, white forelock, pigmentary disturbances of the iris, & dystopia canthorum, displacement of the inner canthi & lacrimal puncti Other = synophrys, broad nasal root, hypoplasia of the alae nasi, patent metopic suture & square jaw Other = synophrys, broad nasal root, hypoplasia of the alae nasi, patent metopic suture & square jaw

72 Waardenburg Syndrome WS type II is distinguished from WS type I by the absence of dystopia canthorum WS type II is distinguished from WS type I by the absence of dystopia canthorum WS type III (Klein-Waardenburg syndrome) by WS type I + hypoplasia or contracture of the upper limbs WS type III (Klein-Waardenburg syndrome) by WS type I + hypoplasia or contracture of the upper limbs WS type IV (Waardenburg-Shah syndrome) & involves the association of WS with Hirschsprung disease WS type IV (Waardenburg-Shah syndrome) & involves the association of WS with Hirschsprung disease

73 WS: congenital hearing impairment WS type I : 36% to 66.7% WS type I : 36% to 66.7% WS type II : 57% to 85% WS type II : 57% to 85% Most commonly, the loss affects persons with more than one pigmentation abnormality & profound, bilateral, and stable Most commonly, the loss affects persons with more than one pigmentation abnormality & profound, bilateral, and stable Audiogram = variable, with low-frequency loss (more common) Audiogram = variable, with low-frequency loss (more common)

74 Treacher-Collins Syndrome Abnormalities of craniofacial development Abnormalities of craniofacial development Maldevelopment of the maxilla & mandible, with abnormal canthi placement, ocular colobomas, choanal atresia & CHL secondary to ossicular fixation Maldevelopment of the maxilla & mandible, with abnormal canthi placement, ocular colobomas, choanal atresia & CHL secondary to ossicular fixation

75 Autosomal-Recessive Syndromic Hearing Impairment

76 Pendred Syndrome associate congenital deafness with thyroid goiter associate congenital deafness with thyroid goiter 7.5 to 10 per 100,000 persons, up to 10% of hereditary deafness 7.5 to 10 per 100,000 persons, up to 10% of hereditary deafness develop in second decade

77 Pendred Syndrome usually prelingual, bilateral & profound, although it can be progressive usually prelingual, bilateral & profound, although it can be progressive Radiologic studies : Radiologic studies : - temporal bone anomaly, either dilated vestibular aqueducts (DVAs) or - temporal bone anomaly, either dilated vestibular aqueducts (DVAs) or - Mondini dysplasia - Mondini dysplasia

78 Jervell and Lange-Nielsen Syndrome Congenital deafness, prolonged QT interval & syncopal attacks Congenital deafness, prolonged QT interval & syncopal attacks The dominant disease(Romano-Ward syndrome) does not include the deafness phenotype The dominant disease(Romano-Ward syndrome) does not include the deafness phenotype The recessive disease is Jervell and Lange- Nielsen syndrome (JLNS) The recessive disease is Jervell and Lange- Nielsen syndrome (JLNS)

79 Jervell and Lange-Nielsen Syndrome congenital, bilateral & severe to profound congenital, bilateral & severe to profound The prolonged QT interval can lead to ventricular arrhythmias, syncopal episodes & death in childhood The prolonged QT interval can lead to ventricular arrhythmias, syncopal episodes & death in childhood Effective treatment with beta-adrenergic blockers reduces mortality from 71% to 6% Effective treatment with beta-adrenergic blockers reduces mortality from 71% to 6%

80 Usher Syndrome SNHL, retinitis pigmentosa & often vestibular dysfunction SNHL, retinitis pigmentosa & often vestibular dysfunction Prevalence 4.4/ 100,000 USA Prevalence 4.4/ 100,000 USA - 3% to 6% of congenitally deaf persons carrying this DX - 3% to 6% of congenitally deaf persons carrying this DX - cause of 50% of deaf- blindness in the United States - cause of 50% of deaf- blindness in the United States

81 Usher Syndrome :types I, II and III Type I = severe-to-profound SNHL, vestibular dysfunction, retinitis pigmentosa Type I = severe-to-profound SNHL, vestibular dysfunction, retinitis pigmentosa type II = moderate-to-severe congenital SNHL, with uncertainty related to progression, no vestibular dysfunction, and retinal degeneration that begins in the third to fourth decade type II = moderate-to-severe congenital SNHL, with uncertainty related to progression, no vestibular dysfunction, and retinal degeneration that begins in the third to fourth decade type III = progressive hearing loss, variable vestibular dysfunction, and variable onset of retinitis pigmentosa type III = progressive hearing loss, variable vestibular dysfunction, and variable onset of retinitis pigmentosa

82 X-Linked Syndromes

83 Alport Syndrome hematuric nephritis, hearing impairment & ocular changes hematuric nephritis, hearing impairment & ocular changes symmetric, high- frequency SNHL that can be detected by late childhood & progresses => all frequencies

84 Alport Syndrome controlling high BP & restricting salt, protein & phosphate in the diet => dialysis and kidney transplant may be necessary controlling high BP & restricting salt, protein & phosphate in the diet => dialysis and kidney transplant may be necessary Diagnostic criteria include at least three of the following four characteristics Diagnostic criteria include at least three of the following four characteristics (1) positive FH of hematuria with or without CRF (1) positive FH of hematuria with or without CRF (2) progressive high-tone SN deafness (2) progressive high-tone SN deafness (3) typical eye lesion (anterior lenticonus, and/or macular flecks) (3) typical eye lesion (anterior lenticonus, and/or macular flecks) (4) histologic changes of the glomerular BM of the kidney (4) histologic changes of the glomerular BM of the kidney

85 Mitochondrial Syndromes multisystemic, with hearing loss present in 70% of affected persons multisystemic, with hearing loss present in 70% of affected persons

86 Autosomal-Recessive Nonsyndromic Hearing Impairment usually prelingual & severe to profound across all frequencies

87 PATIENT MANAGEMENT Team of health care Team of health care Inheritance patterns, audiometric characteristics, syndromic vs nonsyndromic features are necessary Inheritance patterns, audiometric characteristics, syndromic vs nonsyndromic features are necessary Directed at providing appropriate amplification as soon as possible Directed at providing appropriate amplification as soon as possible Cochlear implantation => option for persons with severe- to-profound deafness Deaf culture consider themselves


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