USHER SYNDROME: What we need to know Annette Hurley, PhD LSU Health Sciences Center
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- USHER SYNDROME: What we need to know Annette Hurley, PhD LSU
Health Sciences Center
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- Audience?
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- What is Usher Syndrome? A syndrome which affects both hearing
and vision. It is an inherited condition; both parents must be
carriers About 3-6 percent of all deaf children and perhaps an
equal number of hard-of-hearing children have Usher syndrome
(Boughman, Vernon, Shaver, 1983). Other researchers believe the
prevalence of Usher is closer to 17% (ASHA, 2009). At present there
is no treatment for this condition.
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- Types of Usher Syndrome
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- Type 1 (USH1) Marked by profound deafness at birth and severe
balance problems. Many will not benefit from hearing aids May use
sign language to communicate. May be implanted at an early age.
These children begin to develop vision problems by the time they
are 10 and usually start with difficulty seeing at night; this
progresses rapidly until blindness eventually occurs.
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- Type 2 (USH2) Marked by moderate to severe hearing loss at
birth but no balance problems. Most of these children benefit from
hearing aids and will use speech to communicate. The visual
problems tend to progress more slowly than in USH1 and are
characterised by blind spots that begin to appear during the
teenage years. Gradually, the vision deteriorates to
blindness.
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- Type 3 (USH3) These children have normal hearing and near
normal balance. They usually develop hearing problems during their
teenage years and become deaf by mid to late adulthood. Night
blindness usually starts during puberty, blind spots appear in
early adulthood and the individual is usually blind by mid
adulthood. (Least represented in the US- more common in
Finland.)
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- Hearing Loss 95% of infants in the US are evaluated prior to
discharge by early hearing detection and intervention programs.
(NCHAM) lowering the age of identification of hearing loss. Dx of
Usher syndrome, typically lags 5-10 years behind the identification
of the hearing loss (Kimberling & Lindenmuth, 2007). Early
diagnosis might affect management. Genetics: Connexin 26
responsible for 50% of non-syndromic hearing losses. Cost? Affect
Management
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- Genetics If a child has Usher, both parents must carry the
recessive gene. The child will not be affected with the disease
unless both parents are carriers.
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- Dual Sensory Impairment Dual sensory loss, or a combined vision
and hearing deficit are increasing as the number of seniors grows
over the next several decades. It is estimated that 9-21% of people
70 years and older have dual sensory loss. (Atorowitz, Brennan
& Su, 2001). Increase in TBI in Vets. The brain has 2 major
pathways for processing information, the visual and the auditory
cortex.
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- Auditory and Visual Pathway The connections between the brains
auditory and visual regions are carried by neurons that integrate
the two senses together. Listening to sound activates visual
cortex. Seeing a persons lips move helps with actually hearing
speech. We also need to orient our visual and auditory attention to
the same events and to the same place in space. Both of these key
senses are critical to daily life, and while the loss of either can
be debilitating the loss of both affects every moment of every day.
Speed of moving objects Mismatch Scenes.
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- Auditory System Develops in first 20 weeks of gestation Early
onset auditory deprivation can have a profound effect on
development. Brain changes without stimulation Pre/Post lingual
Hearing Age? Vs Chronological Age
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- Types of Hearing Loss Conductive (Disorder in Outer or Middle
ear-otitis media, otosclerosis) Sensorineural (Disorder in the
Inner ear, Syndromes, presbycusis,etc) Mixed- (Combination of
Conductive & Sensorineural Components)
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- Audiogram-a graph of a persons hearing thresholds
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- Audiograms
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- What does a hearing loss sound like Profound Moderate
Normal
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- When did the hearing loss occur? Pre-lingual (95%) Post-lingual
(i.e. Progressive Hearing Loss)
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- Prevalence of Hearing Loss 28 million Americans in the U.S.
have a hearing loss. 27,000 individuals in the US have Usher
(PPNET). Children under 18 years of age have the lowest prevalence,
but greatest educational impact!
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- How Many Children Are Affected? Over 1 million children in the
United States have a hearing loss. For every 1000 children in this
country, 83 have an educationally significant hearing impairment.
Approximately 3-6% of deaf children have Usher Syndrome. Other
researchers believe 17% of Deaf individuals.
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- Treatment for Usher Syndrome Currently no medical treatment to
prevent, slow the progression, or inhibit the transmission of Usher
syndrome.
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- Cochlear Implants A surgically implanted device that brings
sound to the inner ear. This is used only for persons with profound
hearing impairment.
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- Hearing Aids Small instruments that amplify sounds to bring
sound into the normal range.
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- Assistive Devices FM systems System which brings a signal such
as the teachers voice directly to the student by means of frequency
modulated radio waves. Improves the signal to noise ratio
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- Deaf Culture American Sign Language Deaf is a term used to
describe a person who belongs to the Deaf community. They usually
attend Deaf schools and use American Sign Language (ASL) for
communication purposes. 90% of children who are deaf have hearing
parents. Adaptive Hands-On Signing and Finger Spelling.
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- After Amplification -Early amplification is critical for
success. Most kids have some residual hearing Children with severe
and profound hearing loss present a range of listening skills Early
and appropriate amplification is critical for normal speech and
language development.
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- Deafness and Intelligence Same distribution of intelligence
There is potential for abstract thought among deaf & hard of
hearing Educational achievement level of deaf is low Deaf children
of deaf parents score higher on performance IQ tests than deaf
children of hearing parents.
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- Other Disabilities 30% of hearing impaired children have a
disability in addition to hearing loss. Intellectual deficits
Learning Disabilities Attention Deficit Visual Impairment Cerebral
Palsy Orthopedic Problems
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- Individual No two blind people are alike.no two d(D)eaf people
are alike. Refer for counselling, other support We cannot assume
all professionals are familiar with impact of dual sensory
loss.