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The urgency of interdisciplinary healthcare and support for people with Usher Syndrome
Claes Möller Örebro
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Despair Somebody help me !!!!
I went to the doctor and he told me that I would go deaf and blind. He does not know why, not when, but it might be in the near future. Then the doctor abruptly left the room. No, not my hearing, not my vision!!!! It is not fair! How could God do this to me? Why wasn´t I told until I was grown up? Somebody help me !!!!
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Why is it important to know the cause?
To get a correct diagnose To learn from other experiences To determine the prognosis of the disorder Correct rehabilitation Treatments are specific to the cause One can avoid or justify other expensive tests. Family often want and need a reason for the problem Interdisciplinary work
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Do I have a patient with a problem ??
How is it possible for me as an ophthalmologist to suspect this little guy being an Usher syndrom patient? Parents have just notced him beeing deaf?? He gives very very good eye contact when communicating.
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Does this child have a syndrome?
With a deaf och low hearing child you meet lots of audiology people concentrating on communikation by hearing aids, sign linguage aso. The child doesn´t cooporate quite well when testing. Many children in this age lives in known evironments and it is difficult to get an relevant answer to the questions of visual function. If the child i deaf and has a late walking age, and don´t want to climb, it can be suspicious for Usher type 1. Small children almost ever play in the dark or go out by themselves in the evenings- missing the dark seeing problems is easy.
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After 4-5 years of age the children are capable of telling you about their vision. They also plays outside and notice that their night vision is not so god as their friends night vision. Vision is not so bad that they get other problems. About 12 years of age they often start notising that hey differ from other youngsters in the same age. The night vision problems can be so bad that they have to ask for help by walking outside. Often they tell you this without thinking it is something wrong when you ask them in this age. From here you have to talk directly to the patient and open to be a fried who can give the true answers.
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Early identification of deafblindness Hearing
Universal neonatal hearing screening All children with Usher syndrome are wrongly diagnosed as Non-syndromal hearing loss
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Genetic screening for hearing loss
Assume 200,000 births (Australia?) 400 hearing impaired infants 160 congenital/prelingual profound deafness 240 moderate to severe hearing loss 60 cases will be Cx26 15 Usher type I 25 Usher II 5 Usher III A positive genetic finding for Usher is not Usher until RP is diagnosed
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Otolaryngologist Audiologist Psychologist Teacher
When a child have a hearing loss Otolaryngologist Audiologist Psychologist Teacher Radiologist Geneticist and others Parents CI-Team
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Early identification of deafblindness Vision
Vision care for deaf children and young people It is not just the eye doctor in Usher syndrome Guidelines for professionals
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Children with hearing loss
20% of children (7 years) with normal hearing have visual impairment 50 % of children with HL have visual impairment A small vision loss can be severe in a child with hearing loss/Deafness Mandatory visual examinations
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Retinitis pigmentosa Normal fundus and typical Retinits Pigmentosa pigmentation
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Teenage
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years
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Most adults will have residual vision
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In order to diagnose RP early you need
electroretinography (ERG) In small children under general anesthesia ( sleep)
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Identification of children with possible Usher 1-4 years Vision
General anesthesia Fundus photography not sensitive OCT not sensitive ERG full field highly sensitive ERG multifocal will help Visual acuity often normal near normal Visual field difficult might find scotomas Darkness adaptation difficult parents /preschool Contrast difficult parents/preschool Light sensitivity early sign parents/preschool
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When a child/adult have vision loss due to Usher
Ophtalmologists Ortoptists optricians Low vision clinics Teachers Cataract surgeons and others Parents/family
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Input output
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Balance - Type I
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Balance - type II Sammanställande system
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Walking age Usher type I > 18 months
Usher type II months normal
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Usher type I delayed motor milestones walking age > 18 months
clumsy darkness, uneven surface Physiotherapy bicycle gymnastics, sports no fun no motion sickness
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Mean diagnosis age depending on when you were born
Usher type I Usher type II 1910´s y 1920´s 27y 1930´s 28y 35y 1940´s 24y 29y 1950´s 18y 23y 1960´s 12y 23y 1970´s 9y 19y 1980´s 9y 14y 1990´s 4y 14y 2000´s 2y 12y 2010`s 1y 10y
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Rehabilitation in Usher II
Hearing loss discovered early Vision problems more discrete , I don´t know how other see Difficulties in school– hearing loss! Contrast, light sensitivity, darkness Late diagnosis- denial Teenagers do not want to be different This is what not what I have planned Crisis, depression, anxiety, acceptance Team work with professionals and parents/family essential
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* p ≤0,05
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Agents in deafblind rehabilitation
Tolkcentral Syncentral Rehab.- enhet Grupprehab Dövblindteam Sjukvård Diagnostik Hörselklinik Alternativ telefoni Datagrupp Habiliterings- center Dövpsyk.mottagning Hjälpmedelscentral Ögonsjukv.ögonläkare Hörseldiagn.hörselläkare Vårdcentral Socialtjänsten (LSS) - Ledsagare - Pers.ass - Kontaktperson - Individuell plan LANDSTINGET Folkhögskola Universitet Försäkringskassan Ledarhund Grundvux Komvux Färdtjänst Individ Familj & anhöriga Heminstruktör UTBILDNING KOMMUN Arbetsförmedlingen Socialtjänsten (SOL) - Hemtjänst - Ledsagare - Kontaktperson Bostadsanpassning AF Dövkons. AF Lokalkontor TPB tal och punktskriftsbiblioteket RÄTTSVÄSENDET AF HÖRSEL/DÖV/SYN God man Förvaltningsrätt Utskrivningstjänst Resurscenter Mo Gård Arbetsgivare Kammarrätt Text till teckenspråk Nationellt Expertteam för diagnostisering av dövblinda Dövblindteamet FRITID FSDB m.fl
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What do people with Usher syndrome need
Multidisciplinary team Research Evidenced based medicine Audiology Ophtalmology Psychiatry Genetics Psychology Sociology Education Coordinator Patient/family in cooperation with other professionals Medical and och functional diagnosis Personal knowledge concerning deafblindness Different support depending on age Knowledge among care givers Good follow up hearing, vision , balance, physical, psychological health Communication Activity and participation Research Treatment Cure
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The future (it is here) Clinical- Genetical diagnosis Prognosis
Early habilitation Treatment Cure
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Usher New possibilities
Information technology Inner ear metabolism Treatment Genetics CI Cooperation Communication Knowledge !!!
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Vision, hearing and tactile information work together and help each other
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If I go blind and if CI doesn´t work ?
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Helen Keller ’Although the world is full of suffering, it is full also of the overcoming of it.’ Dövblindteamet
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Research team in deafblindness
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Thank you!!!!
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