Urbach-Wiethe Sindroom (beter bekend as lipo"ied prote"inose of hyalinosis cutis et mucosae) is 'n seldsame, outosomaal-oorerflike siekte. Die kenmerkendste simptome van die siekte is vel- en slymvliesveranderinge wat deur 'n neerslag van ekstrasellulere hialienagtige materiaal van onbekende oorsprong veroorsaak word. Die vel word maklik beseer, genees stadig en lelike, pokagtige letsels ontstaan. 'n Fyn, korrelagtige neerslag op die ooglede, die sogenaamde "kralestringvoorkoms" kenmerk die siekte, sowel as heesheid, die prominentste en lastigste simptoom, wat sedert geboorte teenwoordig kan wees. Radiografie en tomografie toon bilaterale,boontjievormige verkalking op die temporale lobbe van die brein, wat tot epileptiese aanvalle en ander neuropsigiese simptome soos geremde geheue en aggressie lei. Heesheid veroorsaak kommunikatiewe beperkinge vir die lyer,terwyldie opsigtelike velletsels aversiewe- en die verkalkings onsigbare beperkinge meebring. Die lyer aan Urbach-Wiethe Sindroom kan volgens die beginsels en kriteria van die medies-kliniese, die persoonsgeorienteerde en die sosio-omgewingsperspektiewe gestremdheid ondervind. Teoreties kan die lyer se belewinge van sy andersheid en die nie-aanvaardingdeurdie gemeenskap, soos by gestremdes,die handhawing van sy selfagting rem, sodat 'n negatiewe selfkonsep tot skuldgevoelens, angsbelewinge en depressie kan lei. 'n Betekenisvolle verband is in die empiriese ondersoek tussen die graad van aantasting en wanaanpassing in die lyer se leefwereld gevind. Die lyers wat ernstig aangetas is, identifiseer moeilik met hulle fisieke voorkoms. ldentiteitsvorming word gerem en die selfagting is negatief. Hulle openbaar 'n negatiewe selfkonsep en depressiewe gevoelens met selfmoordgedagtes. Hulle relasies en sosialisering is problematies en hulle voel hulle word nie deur die gemeenskap aanvaar nie. Die lyers ondervind 'n algemene wanaanpassing in hulle leefwereld. 'n Geval van paranoia is ook gevind. Alhoewel die ouers vrae oor die toestand het en sekere emosies beleef, kan die meeste van hulle die situasie hanteer. Riglyne vir 'n terapeutiese begeleidingsprogram vir lyers aan Urbach-Wiethe Sindroom, wat op die verbetering van die selfkonsep; die hantering van depressie, aggressie en woedebuie, asook die verbetering van relasies en sosialisering gerig is, is saamgestel. 'n Ondersteuningsgroep waarby lyers en hulle ouers kan inskakel, is gestig. / Urbach-Wiethe Syndrome, also known as lipoid proteinosis or hyalinosis cutis et mucosae, is a rare, recessively inherited, autosomal disorder characterized by lesions of the skin and mucosae, caused by widespread deposition of hyaline material of unknown etiology. The skin injures easily and heals slowly with "pock­ like" lesions. Bead-like deposits on the eyelids, called "string of pearls",are often found. Present since early infancy, hoarseness is the first, and most striking, irritating symptom. Bean-shaped intracranial calcification within the temporallobes of the brain in the area of the hippocampus, shown up by radiography and tomography, may cause epileptic seizures and other neuropsychological complications like impaired memory and aggression. The sufferer experiences communicative impairment through hoarseness, aversive impairment because of the conspicuous lesions, and concealed impairment as a result of the calcifications. According to the medical-clinical,person-orientated and socio-environmental perspectives on disability, a sufferer of Urbach-Wiethe Syndrome may experience disability. Like disabled persons, the sufferer finds it difficult to identify with his physical appearance. Impaired identity formation and low self-esteem cause a negative self­ concept. Feelings of guilt,anxiety and depression result from perceived dissimilarity, social rejection and low self-esteem. Socialising is adversely affected. A significant relationship was found in the empirical study between the extent to which the sufferer is affected and the degree of maladjustment in his life-world. Seriously affected sufferers display a negative self-concept and feelings of depression with suicidal thoughts. Socialisation and relationships are problematic and sufferers feel unaccepted by the community. General maladjustment in the life-world is experienced. A case of paranoia was reported. Except for some questions and unresolved feelings about the disease,most parents are able to cope with the situation. Guidelines have been set for a therapeutic programme for sufferers from Urbach­ Wiethe Syndrome aimed at enhancing self-concept, coping with depression and aggression, and improving relationships and socialising. A support group has been ounded for sufferers and their parents. / Psychology of Education / D. Ed. (Sielkundige Opvoedkunde)

INTRODUÇÃO: A audição é fundamental para aquisição e desenvolvimento da fala. Atualmente, mesmo com o avanço no atendimento ao surdo utilizando a língua de sinais, muitos procuram pelo trabalho oral. OBJETIVO: Avaliar as mudanças na voz e na fala de surdos após a aplicação de um procedimento terapêutico que utiliza como apoio o feedback visual. MÉTODOS: participaram deste estudo 18 indivíduos surdos, com idades entre 12 e 17 anos que realizaram 16 sessões de terapia fonoaudiológica com apoio visual. RESULTADOS E CONCLUSÕES: Encontraram-se valores de freqüência fundamental e tempos de fonação próximos ao esperado para sujeitos com audição normal e melhora da inteligibilidade da fala e do controle do pitch. Esses achados mostraram que o trabalho com surdos deve abranger a parte vocal, pois esta proporciona melhora na voz e na fala. / Hearing is fundamental for the acquisition and development of speech. Nowadays, even with improved assistance to deaf people using sign language, many of them seek oral language. OBJECTIVE: Evaluate the changes in the voice and speech of deaf people after application of a therapy procedure with the support of visual feedback. METHODS: 18 deaf individuals, aged between 12 and 17, took part in this study consisting of 16 speech therapy sessions using visual support. RESULTS AND CONCLUSIONS: The values of fundamental frequency and phonation times were found to be close to expected values for individuals with normal hearing as well as improved speech intelligibility and pitch control. These findings showed that the work with deaf people should encompass the vocal element as it provides an improvement in voice and speech.

En röststörning kan sägas föreligga då rösten inte fungerar eller låter som den brukar så att det påverkar kommunikationen. Prevalensen för röststörningar uppskattas till omkring 6 % av den vuxna befolkningen. När rösten inte fungerar som den ska leder det till emotionella, sociala och funktionella svårigheter för individen och har negativ inverkan på livskvaliteten. Voice- Related Quality of Life (V-RQOL) är ett självskattningsformulär som mäter vilken inverkan en röststörning kan ha på individens livskvalitet. Detta instrument är internationellt välanvänt, men har inte funnits översatt till svenska. Syftet med föreliggande uppsats var att översätta och validera V-RQOL för en svensk population. Översättningen skedde genom så kallad back translation och den svenska versionen fick namnet Röstrelaterad livskvalitet (RRL). RRL och Rösthandikappindex (RHI) distribuerades i pappersformat till en röstpatientgrupp (n = 88) och en röstfrisk grupp (n = 110). Reliabiliteten av domänerna och samtliga tio påståenden på RRL var hög för patientgruppen med Cronbach’s alfa- värden från 0.82 till 0.90. Det fanns en tydlig relation mellan den självskattade röstkvaliteten och poängen på RRL och formuläret kunde även differentiera mellan röstpatienter och röstfriska. Dessa resultat indikerar att formulärets begreppsvaliditet är god. Pearson’s korrelationsanalys visade att det fanns en signifikant negativ korrelation mellan RRL:s och RHI:s domäner och totalpoäng. Detta starka samband mellan ”the gold standard”, RHI, och RRL innebär en god kriterierelaterad validitet för formuläret. Sammanfattningsvis visar resultaten att RRL har hög reliabilitet och god validitet, dessutom är formuläret kort vilket innebär en liten arbetsinsats. Formuläret anses därför vara ett pålitligt och värdefullt tillägg i den kliniska bedömningen av röststörningar. / A voice disorder can be said to exist when the voice does not work or sound as it normally should in a manner so that it interferes with communication. The prevalence of voice disorders is estimated to be about 6 % of the adult population. When the voice does not work as it should it may lead to emotional, social and functional difficulties for the individual and with negative effects on the quality of life. Voice- Related Quality of Life (V-RQOL) is a self-reporting questionnaire which measures the effect of a voice disorder on the quality of life of an individual. The instrument is frequently used internationally, but no Swedish translation has existed. In the present study, the purpose was to translate and validate V-RQOL for a Swedish population. The method for translating the questionnaire was back translation. The translated questionnaire was given the Swedish name Röstrelaterad livskvalitet (RRL). RRL and the Swedish version of The Voice Handicap Index, Rösthandikappindex (RHI), was distributed to a group of voice patients (n = 88) and a group of non-voice patients (n = 110). The reliability of the domains and the combined items of RRL was high according to Cronbach’s alpha with alpha values ranging from 0.82 to 0.90. There was a strong relation between the self–estimated voice quality and the scores on RRL, and the RRL- questionnaire was shown to differentiate between voice patients and non-voice patients. These results indicate that the construct validity of the questionnaire is good. Pearson’s correlation analysis demonstrated a significant negative correlation between the domains and total scores of RRL and RHI. This strong relation between “the gold standard”, RHI, and RRL proved that the criterion validity of the questionnaire is good. In summary the results show that RRL has a high reliability and good validity, in addition to this, the questionnaire is short and requires minimal work. The questionnaire is therefore considered to be a reliable and valuable addition to the clinical assessment of voice disorders.

Urbach-Wiethe Sindroom (beter bekend as lipo"ied prote"inose of hyalinosis cutis et mucosae) is 'n seldsame, outosomaal-oorerflike siekte. Die kenmerkendste simptome van die siekte is vel- en slymvliesveranderinge wat deur 'n neerslag van ekstrasellulere hialienagtige materiaal van onbekende oorsprong veroorsaak word. Die vel word maklik beseer, genees stadig en lelike, pokagtige letsels ontstaan. 'n Fyn, korrelagtige neerslag op die ooglede, die sogenaamde "kralestringvoorkoms" kenmerk die siekte, sowel as heesheid, die prominentste en lastigste simptoom, wat sedert geboorte teenwoordig kan wees. Radiografie en tomografie toon bilaterale,boontjievormige verkalking op die temporale lobbe van die brein, wat tot epileptiese aanvalle en ander neuropsigiese simptome soos geremde geheue en aggressie lei. Heesheid veroorsaak kommunikatiewe beperkinge vir die lyer,terwyldie opsigtelike velletsels aversiewe- en die verkalkings onsigbare beperkinge meebring. Die lyer aan Urbach-Wiethe Sindroom kan volgens die beginsels en kriteria van die medies-kliniese, die persoonsgeorienteerde en die sosio-omgewingsperspektiewe gestremdheid ondervind. Teoreties kan die lyer se belewinge van sy andersheid en die nie-aanvaardingdeurdie gemeenskap, soos by gestremdes,die handhawing van sy selfagting rem, sodat 'n negatiewe selfkonsep tot skuldgevoelens, angsbelewinge en depressie kan lei. 'n Betekenisvolle verband is in die empiriese ondersoek tussen die graad van aantasting en wanaanpassing in die lyer se leefwereld gevind. Die lyers wat ernstig aangetas is, identifiseer moeilik met hulle fisieke voorkoms. ldentiteitsvorming word gerem en die selfagting is negatief. Hulle openbaar 'n negatiewe selfkonsep en depressiewe gevoelens met selfmoordgedagtes. Hulle relasies en sosialisering is problematies en hulle voel hulle word nie deur die gemeenskap aanvaar nie. Die lyers ondervind 'n algemene wanaanpassing in hulle leefwereld. 'n Geval van paranoia is ook gevind. Alhoewel die ouers vrae oor die toestand het en sekere emosies beleef, kan die meeste van hulle die situasie hanteer. Riglyne vir 'n terapeutiese begeleidingsprogram vir lyers aan Urbach-Wiethe Sindroom, wat op die verbetering van die selfkonsep; die hantering van depressie, aggressie en woedebuie, asook die verbetering van relasies en sosialisering gerig is, is saamgestel. 'n Ondersteuningsgroep waarby lyers en hulle ouers kan inskakel, is gestig. / Urbach-Wiethe Syndrome, also known as lipoid proteinosis or hyalinosis cutis et mucosae, is a rare, recessively inherited, autosomal disorder characterized by lesions of the skin and mucosae, caused by widespread deposition of hyaline material of unknown etiology. The skin injures easily and heals slowly with "pock­ like" lesions. Bead-like deposits on the eyelids, called "string of pearls",are often found. Present since early infancy, hoarseness is the first, and most striking, irritating symptom. Bean-shaped intracranial calcification within the temporallobes of the brain in the area of the hippocampus, shown up by radiography and tomography, may cause epileptic seizures and other neuropsychological complications like impaired memory and aggression. The sufferer experiences communicative impairment through hoarseness, aversive impairment because of the conspicuous lesions, and concealed impairment as a result of the calcifications. According to the medical-clinical,person-orientated and socio-environmental perspectives on disability, a sufferer of Urbach-Wiethe Syndrome may experience disability. Like disabled persons, the sufferer finds it difficult to identify with his physical appearance. Impaired identity formation and low self-esteem cause a negative self­ concept. Feelings of guilt,anxiety and depression result from perceived dissimilarity, social rejection and low self-esteem. Socialising is adversely affected. A significant relationship was found in the empirical study between the extent to which the sufferer is affected and the degree of maladjustment in his life-world. Seriously affected sufferers display a negative self-concept and feelings of depression with suicidal thoughts. Socialisation and relationships are problematic and sufferers feel unaccepted by the community. General maladjustment in the life-world is experienced. A case of paranoia was reported. Except for some questions and unresolved feelings about the disease,most parents are able to cope with the situation. Guidelines have been set for a therapeutic programme for sufferers from Urbach­ Wiethe Syndrome aimed at enhancing self-concept, coping with depression and aggression, and improving relationships and socialising. A support group has been ounded for sufferers and their parents. / Psychology of Education / D. Ed. (Sielkundige Opvoedkunde)

Made available in DSpace on 2011-05-04T12:36:31Z (GMT). No. of bitstreams: 0 Previous issue date: 2009 / Introdução: A freqüência, a gravidade e as repercussões sociais dos problemas de voz o transformaram em uma questão relevante para a Saúde Pública e para a Saúde do Trabalhador. A análise dos fatores de risco relacionados à voz profissional deve incluir tanto questões individuais como aspectos ambientais e organizacionais. Seu uso incorreto, originando ajustes inapropriados no modo de produção vocal, e a grande demanda vocal são fatores importantes para o desencadeamento de alterações no aparelho fonador dos professores. Uma parcela significativa deles desenvolve sintomas laríngeos, faríngeos e/ou cervicais de diferentes tipos e graus de severidade, afetando seu desempenho vocal. O absenteísmo e freqüentes pedidos de licença médica, além das incapacidades permanentes neste grupo, sobrecarregam os serviços de saúde e de perícia médica. A Lista Brasileira de Doenças Relacionadas ao Trabalho, produzida pelo Ministério da Saúde e adotada pelo Ministério da Previdência, não incluiu os transtornos da voz relacionados ao trabalho e a legislação vigente sobre aptidão e inaptidão vocal para o trabalho é ainda insuficiente e imprecisa. Objetivos: Avaliar diagnósticos, causas e critérios de readaptação funcional por problemas de voz de professores da rede pública municipal de ensino da cidade do Rio de Janeiro durante o ano de 2007. / Material e método: revisão da literatura técnica e normativa, estudo descritivo observacional com uso de prontuários médicos e entrevistas com profissionais da Gerência de Perícias Médicas (GPM) da Prefeitura da Cidade do Rio de Janeiro. Resultado: 41,73 por cento dos professores foram readaptados em 2007 por disfoniacorrespondendo a 1 por cento de todos os professores da rede pública municipal do RJ; 97,67 por cento do sexo feminino; média de idade: 46,6 + 8,4 anos; média de tempo de magistério: 18,5 + 8,2 anos; tempo médio de readaptação: 3,5 + 4,16 anos; 67,37 por cento de lesões orgânicas(espessamento de bordo livre: 26,02 por cento; nódulos: 24,39 por cento) e 32,63 por cento de funcionais(fendas: 79,46 por cento). Conclusão: O adoecimento vocal apresentado pelos professores deve ser valorizado e incluído no roll das patologias relacionadas ao trabalho. Programas desaúde vocal devem ser introduzidos para a prevenção destes agravos. / Introduction: The frequency, severity and impact of social problems due to voice problems turned into an issue for Public and Occupational Health. The analysis of risk factors related to professional voice use should include not only individual issues but also organizational and environmental aspects. Inappropriate settings for the mode of voice production due to incorrect use of the voice, and high vocal demand are important factors for the triggering of changes in teachers' vocal apparatus. Laryngeal, pharyngeal and/or cervical symptoms of different types and degrees and changes in vocal performance are developed by a significant amount of them. The absences and frequent requests for medical leave, in addition to permanent disability in this group, overwhelm the health services and medical expertise. The List of Brazilian Diseases Related to Work, produced by the Ministry of Health and adopted by the Ministry of Welfare, does not include work related voice disorders and legislation about vocal ability and inability to work are still insufficient and imprecise. Objectives: To assess diagnosis, causes and criteria for functional readaptation of teachers with voice problems in the public schools of Rio de Janeiro City during the year of 2007. Material and method: review of technical and normative literature, descriptive observational study using medical records and interviews with professionals from the Medical Expertise Management (GPM) of the City Hall of Rio de Janeiro. Results: 41.73% of teachers in 2007 were readapted by dysphonia corresponding to 1% of all teachers in the public educational municipal system of RJ; 97.67% female, mean age: 46,6 + 8,4 years, average years of teaching: 18,5 + 8,2 years, mean duration of readaptation: 3,5 + 4,16 years, 67.37% of organic lesions (thickening of free vocal cord edge: 26.02%; nodules: 24.39%) and 32.63% of functional (chink: 79.46%). Conclusion: Teachers’ voice disorders should be worth and included in the roll of occupational diseases. Vocal health programs should be introduced to prevent these problems.

INTRODUÇÃO: A audição é fundamental para aquisição e desenvolvimento da fala. Atualmente, mesmo com o avanço no atendimento ao surdo utilizando a língua de sinais, muitos procuram pelo trabalho oral. OBJETIVO: Avaliar as mudanças na voz e na fala de surdos após a aplicação de um procedimento terapêutico que utiliza como apoio o feedback visual. MÉTODOS: participaram deste estudo 18 indivíduos surdos, com idades entre 12 e 17 anos que realizaram 16 sessões de terapia fonoaudiológica com apoio visual. RESULTADOS E CONCLUSÕES: Encontraram-se valores de freqüência fundamental e tempos de fonação próximos ao esperado para sujeitos com audição normal e melhora da inteligibilidade da fala e do controle do pitch. Esses achados mostraram que o trabalho com surdos deve abranger a parte vocal, pois esta proporciona melhora na voz e na fala. / Hearing is fundamental for the acquisition and development of speech. Nowadays, even with improved assistance to deaf people using sign language, many of them seek oral language. OBJECTIVE: Evaluate the changes in the voice and speech of deaf people after application of a therapy procedure with the support of visual feedback. METHODS: 18 deaf individuals, aged between 12 and 17, took part in this study consisting of 16 speech therapy sessions using visual support. RESULTS AND CONCLUSIONS: The values of fundamental frequency and phonation times were found to be close to expected values for individuals with normal hearing as well as improved speech intelligibility and pitch control. These findings showed that the work with deaf people should encompass the vocal element as it provides an improvement in voice and speech.