PowerPoint Presentation

USHER SYNDROME:What we need to knowAnnette Hurley, PhDLSU Health Sciences Center

Carolyn Dew1Audience?

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.

Types of Usher SyndromeType 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.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. 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.)Hearing Loss95% 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 ManagementGeneticsIf 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.

Dual Sensory ImpairmentDual 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.

Auditory and Visual PathwayThe 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 objectsMismatch Scenes.

Auditory SystemDevelops in first 20 weeks of gestationEarly onset auditory deprivation can have a profound effect on development.Brain changes without stimulationPre/Post lingualHearing Age? Vs Chronological Age

Types of Hearing LossConductive (Disorder in Outer or Middle ear-otitis media, otosclerosis)Sensorineural (Disorder in the Inner ear, Syndromes, presbycusis,etc)Mixed- (Combination of Conductive & Sensorineural Components)Audiogram-a graph of a persons hearing thresholds

Audiograms

What does a hearing loss sound likeProfound

Moderate

Normal

When did the hearing loss occur?

Pre-lingual (95%)Post-lingual (i.e. Progressive Hearing Loss)

Prevalence of Hearing Loss28 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!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. Treatment for Usher SyndromeCurrently no medical treatment to prevent, slow the progression, or inhibit the transmission of Usher syndrome.

Cochlear ImplantsA surgically implanted device that brings sound to the inner ear. This is used only for persons with profound hearing impairment. Hearing AidsSmall instruments that amplify sounds to bring sound into the normal range.

Assistive DevicesFM systemsSystem 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 ratioDeaf CultureAmerican Sign LanguageDeaf 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. 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.

Deafness and IntelligenceSame distribution of intelligenceThere is potential for abstract thought among deaf & hard of hearingEducational achievement level of deaf is lowDeaf children of deaf parents score higher on performance IQ tests than deaf children of hearing parents. Other Disabilities30% of hearing impaired children have a disability in addition to hearing loss.Intellectual deficitsLearning DisabilitiesAttention DeficitVisual ImpairmentCerebral PalsyOrthopedic ProblemsIndividualNo 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.

Effect Of Filtering On Articulation Index And Speech IntelligibilityC.I. Berlin, Ph.D.Hair Cells And Hearing AidsiTunes 11.1.5.5Effect Of Filtering On Articulation Index And Speech IntelligibilityC.I. Berlin, Ph.D.Hair Cells And Hearing AidsiTunes 11.1.5.5Effect Of Filtering On Articulation Index And Speech IntelligibilityC.I. Berlin, Ph.D.Hair Cells And Hearing AidsiTunes 11.1.5.5