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Hearing Loss in Children

Hearing loss in children can be frightening and confusing to parents.


Children with otitis media (ear infection) or otitis media with effusion (OME)
(fluid in the ear), may have temporary hearing loss due to the fluid in the middle ear. Upon removal of the flu
hearing usually returns to normal.

This is known as conductive hearing loss. This usually means that sound
waves which hit the ear drum have a difficult time being transmitted from the ear drum into the inner ear (hea
nerve). Sensorineural hearing loss means the
sound reaches the inner ear, but some defect in the hearing organ (cochlea),
nerve, or brain is the cause of the hearing loss.

A less common form of hearing loss is known as mixed hearing loss. In this
form of hearing loss, there are components of both conductive hearing loss and
sensorineural (nerve) hearing loss.

Sensorineural hearing loss is present in about 40,000 newborns each year.


It is estimated that one in every 1,000 newborns has significant hearing loss.
Fifty percent of these children with hearing loss have hereditary hearing loss.
Of these, one third have a syndrome associated with their hearing loss and
usually have identifiable physical features which may alert the parents or
physician to seek evaluation. The remaining two thirds of these children has
a hearing loss for which a cause cannot be discovered.

The joint committee on infant hearing has identified ten risk factors for
newborn hearing loss:

1. Family history of hearing loss,


2. In utero infection,
3. Craniofacial anomalies,
4. Hyperbilirubinemia requiring exchange transfusion,
5. Birth weight less than 1500 grams,
6. Bacterial meningitis,
7. Apgar scores of 0 to 4 at one minute or 0 to 6 at five minutes,
8. Ototoxic medications,
9. Mechanical ventilation (greater than five days),
10. Physical appearance of known syndrome.

Of those children with hearing loss associated with a known syndrome,


advancement in the fields of genetics and molecular biology have allowed us to
identify many of these syndromes. Sixty to 70% of these children have autosomal
recessive hearing impairment, making it the most common pattern of transmission. In these cases, the parents
normal hearing but carry the recessive gene, and there is a 25% chance of the children being affected. The ne
mode of transmission is autosomal dominant inheritance, which accounts for the other 20 - 30% of cases. In t
instance, one parent usually has hearing impairment and carries the abnormal gene, and there is a 50% chance
their children will be affected. A small percentage of hereditary hearing impairment is due to x-linked abnorm
Because girls have two x chromosomes and boys only have one, x-linked disorders are "carried" by girls and
up" in boys. Hearing loss can also be linked to mitochondrial mutations.

The terms hereditary and familial are sometimes confusing to many parents. When a disorder is hereditary, w
to say that there is an identifiable genetic basis for the disorder. There is usually an inheritance pattern that is
recognizable by examining family history and seeing a definite pattern. However, when a disorder appears to
more common in a certain family but shows no definitive pattern of inheritance, we call this familial. In hered
disorders, a percentage of affected children can be predicted. In familial disorders, affected individuals appea
randomly and cannot be predicted.

Common Types of Hereditary Hearing Impairment

1. Autosomal Recessive
o Usher syndrome
o Pendred syndrome
o Jervell and Lang-Nielson syndrome
2. Autosomal Dominant
o Treacher-Collins syndrome
o Goldenhar syndrome
o Waardenburg syndrome
o branchio-oto-renal syndrome
o neurofibromatosis type II
o otosclerosis
o Alport syndrome
o autosomal dominant delayed (late) progressive sensorineural hearing
impairment.
3. X-linked Disorders
o Alport syndrome
o X-linked mixed hearing impairment with stapes fixation and perilymphatic
gusher.

Hereditary causes of hearing loss are suspected in all cases of hearing


impairment. Two factors which increase levels of suspicion are U-shaped audiograms and consanguinity of th
parents (parents related before marriage). In general, the younger the child upon diagnosis and the less appare
alternative causes, the more likely the diagnosis is of hereditary hearing impairment. A hereditary cause, how
must be considered even in adolescents and young adults because hereditary hearing impairment can occur w
delayed onset. When hereditary hearing impairment is suspected, parents and siblings of the affected patient
also have audiologic testing.

Testing for hearing loss

The testing for hearing loss is at an exciting and dynamic period. Because of advances in molecular genetics
have identified specific causes of hearing loss. Identification of this genetic cause (mutation) helps us manage
child’s care, prevents further expensive and invasive tests and gives us information on long term prognosis. A
can imagine, knowing about genetic mutation can help families make decision as parents and help identify ot
family members who may be at risk.

One of our favorite sites for hearing loss is The Hearing and Deafness Center at Cincinnati Children’s Medic
Center. This site will allow you to read their material as a further reference.

In our practice we follow their algorithm for testing as they continually update their processes as new informa
becomes available- (many time through research done there!) .

Testing as follows: If your child has sensorineural hearing loss that affects both ears a Connexin 26 test is ord
positive, patients are clinically followed and genetic testing ordered. If negative, a mitochondrial screen is ord
If heterozygous, a Connexin 30 test is ordered. If either of these are negative, a CT of the temporal bone (ear)
ordered. If an abnormality is found a SLCZ6A4 gene mutation test is ordered to rule out Pendred Syndrome (
loss, temporal bone anomalies and thyroid abnormalities). If your child has sensorineural hearing loss that aff
one ear, a CT scan is ordered to see if the ear was not formed correctly on that side.

Your physician will probably order a hearing assessment by audiogram or ABR (auditory brain stem respons
addition, vestibular testing (testing of the balance system) may also be recommended. Although no specific b
test may identify hearing loss, some testing may be suggested by your physician and may include urinalysis (
syndrome), thyroid function studies (Pendred syndrome), EKG (JLN syndrome), ophthalmologic exam (Ushe
syndrome), computerized tomography (CT scan) or magnetic resonance imaging (MRI).

Selected Disorders

Otosclerosis - Otosclerosis is an autosomal dominant inherited disorder. It is a relatively common progressive


disease of the middle ear. It may first become apparent with conductive hearing loss due to stapes (stirrup bon
fixation, but may progress to include sensorineural hearing loss. Hearing can usually be restored by surgery.

Treacher-Collins syndrome - Treacher-Collins is an autosomal dominant disorder. There is a characteristic


appearance in this syndrome, and usually one parent will closely resemble the child. Abnormalities of the ear
include a small external ear, ear tag or narrowing and/or complete absence of the external ear canal. Other fin
may include malformed middle ear bones. Conductive hearing loss is the most common hearing problem.

Goldenhar syndrome - Physical findings in this case may be one sided and may include the jawbone, ear, pala
the voice box. Hearing loss is usually conductive in nature.

Waardenburg syndrome - This syndrome is an autosomal dominant disorder with some facial findings as wel
hypopigmentation (white forelock or early graying of the hair). Hearing loss in Waardenburg syndrome may
from mild to profound and may be one sided or effects both ears. It is usually sensorineural in character.

Branchio-Oto-Renal syndrome - This syndrome is an autosomal dominant


syndrome with association between ear deformity (40%), hearing impairment and renal dysplasia. Mixed hea
loss (nerve and conductive) is most common.
Usher syndrome - Usher syndrome is autosomal recessive. This disorder usually is characterized by fairly pro
congenital deafness and may or may not have abnormal balance function. These patients may eventually also
severe visual impairment and suffer from rhinitis pigmentosa.
Pendred syndrome - Pendred syndrome an autosomal recessive disorder characterized by thyroid enlargemen
sensorineural type hearing loss. In more than half the patients, hearing loss is severe to profound, progressive
involve both ears.

Jervell and Lang-Nielsen syndrome - In this syndrome which is also autosomal recessive, there may be a hist
syncopal episodes in a congenitally deaf child. Associated abnormalities on an EKG would be diagnostic.
Alport syndrome - Alport syndrome is a x-link disorder that usually involves congenital sensorineural hearing
impairment and nephritis. Because it is x-linked, mothers are usually carriers without the disease, and the syn
is more severe in males.

The diagnoses of these hereditary hearing loss syndromes as well as non-hereditary hearing loss involves car
history taking and physical examination as well as testing. Your physician will suggest selected laboratory an
studies based on the physical examination and history involving your particular child. Only some of the labor
or x-ray studies listed above will be done on your child as not all of these tests may be appropriate in your sit
Therefore, selection of these particular studies is best decided on an individual basis.

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