Transcript ภาพนิ่ง 1

Sensorineural hearing loss in children &
Cochlear Implant
Sensorineural hearing loss in children


1 non genetic SNHL
2 genetic SNHL
syndromic
non-syndromic
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

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)
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
EVALUATION

Multidisciplinary team

Hx
- 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
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

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 2 - 3 weeks of life
NONGENETIC DX
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
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)
Cytomegalovirus Infection

Perinatally infected infants - pneumonitis, slow weight
gain, adenopathy, rash, jaundice, anemia & atypical
lymphocytosis

shed virus in bodily secretions from birth and peripostnatally 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

10% - 15% symptomatic CMV
90% having cytomegalic inclusion disease
(CID), with involve CNS & RE system,
hepatosplenomegaly, petechiae & jaundice
Cytomegalovirus Infection


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
90% of CMV-infected
neonates who are
asymptomatic at birthimproved prognosis ( neuro
development), but other
sequelae, including SNHL
(10% to 15% of cases), can
develop
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
Cytomegalovirus Infection

Limited antiviral therapy trials (ganciclovirtreated 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
Congenital Toxoplasmosis
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 10 24 of preg)

Spiramycin administered to expectant mothers with
documented primary infection during pregnancy can
reduce transmission to the fetus up to 60%
Congenital Toxoplasmosis

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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
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

U/S fetal infection =>intracranial calcifications,
ventricular dilatation, hepatic enlargement,
ascites, & increased placental thickness
Congenital Toxoplasmosis

S/S
may be hydrocephalus,
microcephaly, intracranial
calcifications,
chorioretinitis,
strabismus, blindness,
epilepsy, psychomotor,
thrombocytopenia c
petechiae & anemia
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?
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
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%)
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
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

radiographic evidence (particularly in the humerus and femur) of
symmetric changes- serrated metaohyseal ends thickened
periosteum & metaphyseal defects of the upper medial tibia
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
Congenital Syphilis

Prevalence hearing loss with CS = 3%- 38%
- 37% of cases < age 10
- 51% between 25 - 35 years of age
- 12% even later in life

Audiologic follow-up
Congenital Syphilis

Audiometric configuration=
bilateral, flat SNHL, which can present in
children as a sudden, bilateral profound
impairment, usually without vertigo
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
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 (MHATP)& the T. pallidum inhibition test (TPI), which is
highly specific (99%)
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 6month intervals until the spinal fluid is normal
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
Neonatal Sepsis

Group streptococcal
(GBS) major pathogen
- 80% presenting
during the 1st week of
life

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
Neonatal Sepsis

Most neonatal infections
involve maternal-toinfant 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
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
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
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
Herpes Simplex Encephalitis

EEG& imaging studies, CT& MRI
detect focal meningoencephalitis & the only definitive
DX brain biopsy
Herpes Simplex Encephalitis
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

In children with focal encephalitis of uncertain
cause should addition to acyclovir, until a
definitive Dx has been reached
Rubella

Rubella virus - transmitted by a respiratory route

congenital rubella triad of deafness, congenital
cataracts & heart defects
Sequelae
infants with prenatal rubella infection

Up to 90% during 1st
GA < 11 wks

50% GA 11- 20 wks may
acquire the infection
(25% to 50%) =>
primarily hearing loss

3rd trimester (> GA 20th
wk) => unlikely to occur
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
Rubella

Associated purpura,
jaundice, microcephaly,
splenomegaly, mental
retardation,
meningoencephalitis, or
radiologic evidence of
long bone lucency

Hearing loss, the most
prevalent disability in
CRS,
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( 500- 2,000 Hz)
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
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
Mumps and Measles

most common patients < 5 years and >20 years
of age

15% - 25% of survivors => neurologic sequelae
+SNHL
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

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
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
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
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
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
Noise-Induced Hearing Loss

Often accompanied by tinnitus

Typically, initial + 3,000 -6,000 Hz

“notch” audiometric configuration
Genetic SNHL
Autosomal-Dominant Syndromic
Hearing Impairment
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
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
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
Neurofibromatosis Type II

development of bilateral vestibular
schwannomas & other intracranial & spinal
tumors (schwannomas, meningiomas, gliomas, and
ependymomas)
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
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
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
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
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
Stickler Syndrome

Ocular findings in SS are its most prevalent
feature

Most => myopic
others= vitreoretinal degeneration, retinal detachment,
cataract, & blindness
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
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
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)
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
Autosomal-Recessive Syndromic
Hearing Impairment
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
Pendred Syndrome

usually prelingual ,
bilateral & profound,
although it can be
progressive

Radiologic studies :
- temporal bone
anomaly, either dilated
vestibular aqueducts
(DVAs) or
- Mondini dysplasia
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 LangeNielsen syndrome (JLNS)
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%
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
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
X-Linked Syndromes
Alport Syndrome

hematuric nephritis,
hearing impairment &
ocular changes

symmetric, highfrequency SNHL that
can be detected by
late childhood &
progresses => all
frequencies
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
Mitochondrial Syndromes

multisystemic, with hearing loss present in 70%
of affected persons
Autosomal-Recessive
Nonsyndromic Hearing
Impairment
usually prelingual & severe to
profound across all frequencies
PATIENT MANAGEMENT


Team of health care

Cochlear implantation
=> option for
persons with severeto-profound deafness

Deaf culture consider
themselves
Inheritance patterns,
audiometric characteristics,
syndromic vs nonsyndromic
features are necessary

Directed at providing
appropriate amplification
as soon as possible