1. Sensorineural hearing loss in children & Cochlear Implant
Kiatisak Tantavichian
อ สมชาย ศรีร่มโพธิ์ทอง

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

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

5. National EHDI goals
(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
(c) infants identified with a hearing loss will begin receiving early intervention services < 6 months of age

6. EVALUATION Hx Multidisciplinary team
- 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 )
- 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

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

9. NONGENETIC DX

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

11. Cytomegalovirus Infection
Congenital CMV infection rate - high (20% to 25%)
- lower socioeconomic
- 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
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

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

14. Cytomegalovirus Infection
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
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

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

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

19. Congenital Toxoplasmosis
Fetal infection varies
15% in the 1st trimester
30% in 2nd trimester
60% in 3rd trimester
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%

20. Congenital Toxoplasmosis
75% - 80% - asymptomatic at birth
15%- eye findings
10% - severely involved
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

21. Congenital Toxoplasmosis
1 spiramycin - 1st-2nd trimester
2 pyrimethamine & sulfadiazine
late second trimester may reduce the frequency of transplacental transmission & serious fetal sequelae
3 folinic acid – ameliorate bone marrow suppression
Studies of prenatal treatment of infected mothers reveal a 0.6% fetal infection rate - in early pregnancy
- 3.7% during the 6th to 16th wk(GA)
- 20% in 16th through the 25th wk
- 70% in untreated mothers

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

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

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

25. Congenital Toxoplasmosis
15% - 25% of untreated => develope SNHL
A Chicago-based study of treated infants with
longitudinal ABR & behavioral audiologic tests -
no hearing loss among 57 infected infants

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

27. CS ,early-onset(first 3 months of life)
associated with maternal infection early in pregnancy
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

29. 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
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%
- 37% of cases < age 10
- 51% between years of age
- 12% even later in life
Audiologic follow-up

32. Congenital Syphilis Audiometric configuration=
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
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

34. Congenital Syphilis FTA-ABS = high sensitivity & specificity rate 98%
False-positive findings => Pt. with autoimmune or drug-induced collagen vascular Dz
Confirmatory tests
– 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
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

36. Congenital Syphilis
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
SDS may show greater improvement than pure tone thresholds

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

38. Neonatal Sepsis
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
Most neonatal infections involve maternal-to-infant transmission of organisms during labor& delivery

39. Herpes Simplex Encephalitis
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

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

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

42. Herpes Simplex Encephalitis
EEG& imaging studies, CT& MRI
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
Recommended therapy for all infants having evidence of neonatal herpes
- IV acyclovir (20 mg/kg body weight) q 8 hrs
- 21 days (disseminated disease)
- 14 days for isolated involvement of the skin and mucous membranes

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

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

47. Rubella
Associated purpura, jaundice, microcephaly, splenomegaly, mental retardation, meningoencephalitis, or radiologic evidence of long bone lucency
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
SNHL :variable in severity & asymmetric & audiogram => most commonly( ,000 Hz)

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

50. Mumps and Measles
5/10,000 pts with mumps => hearing loss, sudden in onset
- 80% => unilateral, often + tinnitus, vertigo, N/V
most common patients < 5 years and >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 < 5 years and >20 years of age
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
- 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

53. Bacterial Meningitis & Vaccine Development
Children < 2 years => 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

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

55. Postmeningitic Hearing Loss
Dexamethasone
- 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

56. Anoxia and Hypoxia 2 yrs age 35% had SNHL 4 yrs age 53% : SNHL
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,
- ¾ moderate to severe range
- ¼ is profound

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

58. Noise-Induced Hearing Loss
Often accompanied by tinnitus
Typically, initial + 3,000 -6,000 Hz
“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
- 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

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

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
(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
+ imaging studies (MRI)
Treatment of schwannomas usually => surgery
gamma knife is considered in select cases
Auditory brain stem implants

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

68. Stickler Syndrome
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

69. Stickler Syndrome 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
Most => myopic
others= vitreoretinal degeneration, retinal detachment, cataract, & blindness

71. Waardenburg Syndrome WS type I
=> 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

72. Waardenburg Syndrome
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 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 II : 57% to 85%
Most commonly, the loss affects persons with more than one pigmentation abnormality & profound, bilateral, and stable
Audiogram = variable, with low-frequency loss (more common)

74. Treacher-Collins Syndrome
Abnormalities of craniofacial development
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
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
Radiologic studies :
- temporal bone anomaly, either dilated vestibular aqueducts (DVAs) or
- Mondini dysplasia

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

79. Jervell and Lange-Nielsen Syndrome
congenital, bilateral & severe to profound
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%

80. Usher Syndrome
SNHL, retinitis pigmentosa & often vestibular dysfunction
Prevalence 4.4/ 100,000 USA
- 3% to 6% of congenitally deaf persons carrying this DX
- 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 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

82. X-Linked Syndromes

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

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

85. Mitochondrial Syndromes
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
Inheritance patterns, audiometric characteristics, syndromic vs nonsyndromic features are necessary
Directed at providing appropriate amplification as soon as possible
Cochlear implantation => option for persons with severe-to-profound deafness
Deaf culture consider themselves