EL SINDROME DE USHER EN VENEZUELA - Deafblind International

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FeatureCHD7mut.(n=280)Ext ear anomaly 97% 96%Cranial nerve dysf. 99% 86%Semicircular canalabn94% 100%coloboma 81% 77%Choanal atresia 55% 61%Cleft lip/palate 48% 18%Feeding difficulties 82% 85%Facial palsy 66% 36%Inability to smell(anosmia)80%Genital hypoplasia 81% 36%CHARGE førCHD7-gen (n=124)Zentner GE et al. Molecular and phenotypic aspects ofCHD7 mutation in CHARGE syndrome. Am J Med Genet2010; 152A: 674-686
Alström syndromeHearingInfectionsKidneysSkinVisionHeartLiverMetabolism-diabetes-obesity-cholesterol-etc.
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EL SINDROME DE USHEREN VENEZUELAEST
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SOCIEVENTRAINING ANDCONSULTINGCAPAC
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SORDOCEGUERA EN VENEZUELAUsher a ni
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EL SINDROME DE USHER EN VENEZUELAME
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paulaarreazavielma@yahoo.comEL SIND
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EL SINDROME DE USHER EN VENEZUELARE
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paulaarreazavielma@yahoo.comEL SIND
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¿QUE HACEMOS EN VENEZUELA CON PACI
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MUITO OBRIGADA!!
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FAMILIAEs la unión de un grupo de
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ETAPASPRIMERAETAPA
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BARRERASActitudinalesInformativasEm
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ASPECTOSACEPTACIÓNINFORMACIÓNFORM
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FUNDAPASBárbara Iriarte24Viajes y
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FUNDAPASCONCLUSIONESLos padres que
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Center for DøveWho are we?• Kari
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Center for DøveDeafblindness and d
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Center for DøveShared characterist
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Center for DøveDeafblindness1+1=3
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Center for DøveThe Tactile Mental
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Center for DøveDiscussion5. What d
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Center for DøveAlzheimer’s Disea
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Center for DøveDiagnostic tools•
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Sao Paulo BrasilDEL 27 AL 1 DE ACTU
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Iniciar con unaexperiencia focaliza
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VISIBILIZACIÓN: DEL PROGRAMA NACIO
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ESTRATEGIAS DE FORMACIÓN DEDOCENTE
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Aspectosformativos• Consideran su
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ESTUDIO MANUELA ESPEJODISCAPACIDADT
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ANALISIS DE DATOS• LOS DOCENTES C
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• TOTAL DE PROFESIONALES DE EE194
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TRABAJOINTERSECTORIALPROGRAMANACION
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Asesoramiento provincia de Loja
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Taller padres
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QUE PENSAMOS A FUTURO• UNIVERSALI
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Nordic cooperation
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Mo Gård• Residental homes with d
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About Robert• Born 1970• CHARGE
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“He loves to “bend down and pic
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Page 117 and 118: The swing & the rythm bed
Page 119 and 120: Economic kitchen
Page 121 and 122: Tactile massage
Page 123 and 124: Experience park
Page 125 and 126: ulrica.broddstedt@mogard.se
Page 127 and 128: Deafblind syndromes,diagnostic tool
Page 129 and 130: DespairI went to the doctor and he
Page 131: 98%Schimpans
Page 134 and 135: Why is it important to know the cau
Page 136 and 137: Congenital deafblindnessextremely r
Page 138 and 139: How do we diagnose possible deafbli
Page 140 and 141: Some syndromes with deafblindnessUs
Page 142 and 143: Balance - Type I
Page 144 and 145: Teenage
Page 146 and 147: Around 50 years with cataract
Page 148 and 149: How Frequent Is Usher Syndrome? New
Page 151 and 152: CI and UsherLif long commitmentRapi
Page 153 and 154: If I go blindand if CI don´t work
Page 155 and 156: Prevention may be as simple asweari
Page 157: GenterapiDNA förProtein XProtein X
Page 161 and 162: CHARGEColobomaHeartAtresia of the c
Page 163 and 164: Coloboma
Page 165: Genetic diagnosisMutation in CHD7 g
Page 169 and 170: Anna 12 yearsAnna 21years
Page 171 and 172: En normal mus
Page 173 and 174: OPA1 a ”new” deafblind syndrome
Page 175 and 176: PHARC - acronymPeripheralneuropathy
Page 177 and 178: Multidisciplinarity in hereditary h
Page 179 and 180: Estratégias de Intervençãodo Cen
Page 181 and 182: Modelo curricular para crianças co
Page 183 and 184: Passos para construção do PEI com
Page 185 and 186: Áreas Avaliadas na Avaliação Edu
Page 187 and 188: PEI- Plano Educativo Individualizad
Page 189 and 190: PEI• Planejar comunicação em to
Page 191 and 192: Áreas de DesenvolvimentoAs áreas
Page 193 and 194: Áreas Específicas• Reconhecimen
Page 195 and 196: Educação Inclusiva“ Política N
Page 197 and 198: Formação de Equipe InclusivaFAMÍ
Page 199 and 200: Estratégias de Intervenção• Di
Page 201 and 202: EstratégiasReconhecimento e Orient
Page 203 and 204: Orientações e Acompanhamento• R
Page 205 and 206: Estratégias de Intervenção• Co
Page 207: Definir e priorizar as atividades
Page 210 and 211: Obrigada às famílias, professores
Page 212 and 213: GUATEMALA, UN PAÍS:PluriétnicoMul
Page 214 and 215: REQUIERE INVOLUCRAREn elMinisterio
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APOYO PARA LA CULTURA CONSORDOCEGUE
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SER MODELO DE INCLUSIÓNRESPONSABLE
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Apoyar como centro de recursos alMI
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TOMAR EN CUENTA Escuelas regulares
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TOMAR EN CUENTASe trabaja abarcando
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ETAPA PREPARATORIAProceso oso/estre
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DURANTE EL PROCESOHacer vínculoAco
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LOGROSMejoras significativas en los
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SUCCESSFUL INCLUSIONPRACTICES IN GU
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INCLUSION IN GUATEMALA BYLEGISLATIO
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RESPONSIBLE INCLUSIVE PROCESSSuppor
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BEING RESPONSIBLE INCLUSION MODELSt
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BEING RESPONSIBLE INCLUSION MODEL
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TO BE CONSIDER The country’s cont
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TO BE CONSIDER The teachers’ trai
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OBJECTIVESTo include deafblind stud
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INITIAL STAGEWork with familiesMeet
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ACHIEVEMENTSOpening on behalf the r
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¡GRACIAS! OBRIGADA! THANKS!
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Sweden
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What did we want to achieve?- To cr
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Method- Qualitative Research Method
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Results• The empirical part - rep
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Conclusion• Useful material devel
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UNIVERSIDADE E INCLUSÃO:ACESSIBILI
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Formas de Atuação Espaços de dis
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Características RelevantesSíndrom
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Apoio e Assessoria
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Objetivos específicos:-Formar um g
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•Apoio e suporte a família atrav
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Acessibilidade e Inclusão O acompa
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Rio Cuarto,Córdoba, Argentina.Mend
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EN LATINOAMERICA.ORGANIZACIONESNOGU
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Rio Cuarto, Córdoba, . ArgentinaON
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.DESDE EL AÑO 2001NUESTRA ORGANIZA
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.ASOCIACION CIVIL IDENTIDADESPARA P
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Theory-of-mind in young adults with
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Alström syndrome- An autosomal rec
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Psychomotor and intellectualdevelop
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Theory-of-mind (ToM)To understand y
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Possible explanationsDeviations are
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Some additional diagnoses areoverre
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Theories of development of ToMInnat
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Language - a key to ToMLanguage und
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The Alström studyOur knowledge in
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Records & QuestionnairesMedical rec
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Strange storiesVignettes about ever
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MethodPerformance levels related to
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Preliminary Between groupdifference
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Preliminary Within groupdifferences
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ToM, onset and degree of visual /He
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The use of Hearing aidsDegree of He
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ToM and Educational levelEducationa
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ToM and social relationsA picture i
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Summary and preliminaryconclusionsT
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Hans-erik.frolander@spsm.seAlström
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Motivation• Invitation to partici
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The dentist at work2 januari 2012
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Dental health care plan2 januari 20
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Brushing instructions with anelectr
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Instruction from the dentist2 janua
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QuestionsThanks to: Ted Zuidgeest,
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El instituto Panameño de Habilitac
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La población de alumnos con mayore
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Un Nuevo Camino• Se inicia en 199
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Oportunidades de Capacitación• A
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Modalidades de Atención• Salones
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Logros• Mayor consideración a la
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Proyecciones• Creación del servi
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Gracias a Dios; al Dr. Carlos Brand
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ADEFAV envolvida diretamente com a
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A ADEFAV tem em sua equipe colabora
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Acolhimento
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Alguns relatos:• Falta de humaniz
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A primeira fase do acolhimento é u
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Durante o processo as famílias sã
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O termo colaborativo está ligado a
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Envolvê-las no processo educativo.
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O RELATÓRIO FINAL DA AVALIAÇÃO E
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A elaboração do Mapa e a constru
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Centro de Intervenção Precoce (0
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No AEE III fase em que os jovens es
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Principal objetivo é orientar os p
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Participação em atividades recrea
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Trabalhos desenvolvidos com as fam
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Deficiência visual cortical: Carac
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Princípios básicos1) Informação
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O processamento visual- Percepção
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Funções visuaisO comportamento vi
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Funções visuaisFixação, seguime
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Núcleo GeniculadoLateral do Tálam
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Duas vias conectam o processo visua
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Deficiência visual cortical - DVC
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Características• A visão parece
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Deficiência visual cortical - DVC
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Características de diagnóstico -
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Avaliação funcional visual•Ente
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Avaliação funcional visualHá uma
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Avaliação funcional visualO olhos
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Protocolo de avaliação funcionalA
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Estimulação visualO desenvolvimen
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Estimulação visual•Ofereça apo
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Estimulação visual•A repetiçã
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Considerações finaisAprenda a int
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Posição
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Situações diárias
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Obrigada!!mari@adefav.org.branamarc
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Estabelecer o envolvimento familiar
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A função social da família diz r
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Participante: jovem surdocega & mã
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Mudanças significativasDependênci
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CAMBUZZI, R. C. S. A efetivação d
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Os resultados foram satisfatórios
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experiências de aprendizagem signi
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Ser capaz de responder adequadament
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Rita de Cássia Silveira CambruzziM
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linguagem é um processo dedesenvol
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México es un país con 112millones
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DIAGNOSTICO2005NÚMERO DE PERSONASP
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RED deDiscapacidadMúltiple ySordoc
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SE DIVIDIÓ AL PAÍS EN REGIONES1No
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