USHER SYNDROME: What we need to know

1. USHER SYNDROME:What we need to know Annette Hurley, PhD LSU Health Sciences Center

2. Audience?

3. 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.

4. Types of Usher Syndrome

5. 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.

6. 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.

7. 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.)

8. 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

9. 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.

10. 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.

11. Auditory and Visual Pathway • The connections between the brain’s auditory and visual regions are carried by neurons that integrate the two senses together. • Listening to sound activates visual cortex. Seeing a person’s 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.

12. 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

13. 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)

14. Audiogram-a graph of a person’s hearing thresholds

15. Audiograms…

16. What does a hearing loss sound like • Profound • Moderate • Normal

17. When did the hearing loss occur? • Pre-lingual (95%) • Post-lingual (i.e. Progressive Hearing Loss)

18. 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!

19. 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.

20. Treatment for Usher Syndrome • Currently no medical treatment to prevent, slow the progression, or inhibit the transmission of Usher syndrome.

21. Cochlear Implants • A surgically implanted device that brings sound to the inner ear. This is used only for persons with profound hearing impairment.

22. Hearing Aids • Small instruments that amplify sounds to bring sound into the normal range.

23. Assistive DevicesFM systems • System which brings a signal such as the teacher’s voice directly to the student by means of frequency modulated radio waves. • Improves the signal to noise ratio

24. Deaf CultureAmerican 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.

25. 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.

26. 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.

27. 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

28. 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.