Im Frühjahr/Sommer 2002 wurde eine Befragung von 51 erwachsenen Patienten im Raum Berlin-Brandenburg mit seltenen Muskelerkrankungen bzw. neuromuskulären Erkrankungen zu verschiedenen Aspekten der medizinischen Versorgung durchgeführt. Angewandte Methoden waren ein standardisierter Fragebogen sowie ein Leitfadeninterview. Vom ersten Arztbesuch bis zur in 59% der Fälle im Krankenhaus erfolgten Diagnosestellung einer Muskelerkrankung vergingen durchschnittlich 4,1 Jahre (Median: 1 Jahr). Es fanden sich eine unzureichende Anamneseerhebung und körperliche Untersuchung sowie eine mangelnde Überweisungsbereitschaft an Neurologen. Eine signifikante Verzögerung erlitten Patienten, die anstelle eines Hausarztes zunächst einen anderen Facharzt als den Neurologen aufgesucht hatten. 43% der Patienten hatten Schwierigkeiten, im Anschluss einen kompetenten Arzt für die Langzeitbetreuung zu finden. Fragen der Vererbbarkeit sowie der respiratorischen und kardialen Komplikationen wurden unzu! reichend besprochen. Im Verlauf erfolgte eine mangelnde Überwachung der respiratorischen sowie kardialen Funktion. Die Verordnung von Physiotherapie und Hilfsmitteln wurde dagegen gut bewertet. Bei 51% der Patienten kam es auch nach der Diagnosestellung zu Krankenhausaufenthalten. 22% der Patienten mussten wegen Komplikationen stationär behandelt werden. Insgesamt zeigten sich Defizite in der medizinischen Versorgung, wie sie z.T. bereits in Expertenstellungnahmen bzw. wenigen anderen Studien berichtet wurden. Für den Bereich der seltenen Erkrankungen gilt eine Spezialambulanz als geeignetes Versorgungsmodell, welches die spezialisierte, multidisziplinäre Betreuung der Patienten sichern soll. Solche Einrichtungen existieren mittlerweile in Deutschland, Outcome-Studien fehlen jedoch bisher. / In spring/summer 2002 a group of 51 adult patients in Berlin-Brandenburg suffering from a muscle or a neuromuscular disease were questioned concerning various aspects of their medical care. The applied methods were a standardized questionnaire and a qualitative interview. The average time between the first consultation of a physician and the establishment of the diagnosis of a muscle disease was 4,1 years (median: 1 year). 59% of the patients received their diagnosis at a hospital. An insufficient history-taking, lacks in the physical examination and a reluctance to refer the patient to a neurologist could be identified. There was a significant delay for those patients who initially consulted a non-neurological specialist instead of a general physician. 43% of the patients had difficulties in finding a qualified physician for the long-time care. The patients were insufficiently informed about the heredity of their disease and about possible respiratory and cardiac complicati! ons. There was a lack in following up the respiratory and cardiac functions of the patients. The prescription of physiotherapy and aids was rated positively by the patients. 51% of the patients had hospital stays also after having their diagnosis. 22% were admitted to hospital due to complications of their disease. In general, deficits in the medical care for these patients were shown, similar to those described in expert opinions or few preview studies. A specialized hospital-based outpatient centre that should ensure the specialized multidisciplinary care for the patients is regarded as the model for the medical care in the area of rare diseases. Similar centres exist in Germany by now, but there are no outcome-studies yet.

Made available in DSpace on 2017-06-01T18:08:32Z (GMT). No. of bitstreams: 1 dissertacao_everton_calado.pdf: 1245040 bytes, checksum: f1b176f7ece749c7ff2460c71f70682e (MD5) Previous issue date: 2010-02-17 / Fundação de Amparo a Pesquisa do Estado de Alagoas / This research aims to reflect on the expression of the psychic life of the subject affected by Amyotrophic Lateral Sclerosis (ALS), understood the experience of his "body silenced." By this term to designate that peculiar condition of the subject, with the advancement of the disease, tends to lose as much as the articulation of speech movements, with a severeimpairment in their ability to communicate. We want to understand the psychic expression of this subject from the interaction of caregivers, family members and health professionals in contact with this guy at an advanced stage. The method of clinical-qualitative research (Turato, 2005), whose relevance to human health research is to seek to interpret psychological and sociocultural meanings brought by individuals affected by disease as well as the caregivers, families and professionals. The number of participants was determined by the criterion of saturation (Minayo, 1994), in which the researcher closed the group when a number of interviews already reaches the level of expected information. Free collect testimonies of eight participants, four health professionals with experience in caring for ALS patients: a neurologist and a psychologist, a therapist and a physiotherapist, and four caregivers and / or relatives of people affected by ALS: a daughter of patient, a hired caregiver, wife and widow of a patient. Participants were questioned from both aspects of their interaction with the subject affected by ALS, first, ask how, when living with the subject could perceive, interpret and understand their vicissitudes. Then we question what resources used to establish an intersubjective communication between the health professional, family or carer and the individual affected by ALS. Finally, we consider that the expressionunderstanding of the subject's psychic life with ALS encompasses a gradient ranging from the pragmatic elements relational positions by caregivers whose complement has the effect of the seizure of the subjective contents of the patients / Esta pesquisa tem por objeto refletir sobre a expressão da vida psíquica do sujeito acometido pela Esclerose Lateral Amiotrófica (ELA), compreendida na vivência do seu corpo silenciado . Por esse termo designamos a peculiar condição do sujeito que, com o avanço da doença, tende a perder tanto a articulação da fala quanto dos movimentos, com um grave prejuízo em sua capacidade de se comunicar. Pretendemos compreender a expressão psíquica de tal sujeito a partir da interação dos cuidadores, familiares e profissionais de saúde no convívio com esse sujeito na fase avançada da doença. Utilizamos o método clínicoqualitativo de investigação (Turato, 2005), cuja pertinência à pesquisa humana em saúde está em buscar interpretar significados psicológicos e socioculturais trazidos por sujeitos afetados por doença, bem como dos cuidadores, familiares e profissionais. O número de participantes foi determinado pelo critério de saturação (Minayo, 1994), em que o pesquisador fecha o grupo quando determinado número de entrevistas já alcança o nível de informações esperadas. Coletamos depoimentos livres de oito participantes, sendo quatro profissionais de saúde com experiência no atendimento a casos de ELA: um neurologista, uma psicóloga, uma fonoaudióloga e uma fisioterapeuta, e quatro cuidadores e/ou familiares de pessoas acometidas pela ELA: uma filha de paciente, uma cuidadora contratada, uma esposa e uma viúva de paciente. Os participantes foram questionados a partir de dois aspectos de sua interação com o sujeito acometido pela ELA; em primeiro lugar, perguntamos de que modo, no convívio com o sujeito, conseguiam captar, interpretar e compreender suas vicissitudes. Em seguida, questionamos quais os recursos utilizados para o estabelecimento de uma comunicação intersubjetiva entre este profissional de saúde, familiar ou cuidador e o sujeito acometido pela ELA. Consideramos, finalmente, que a expressão-compreensão de vida psíquica do sujeito com ELA abrange uma gradação que vai desde elementos pragmáticos a posições relacionais por parte cuidadores, cuja complementaridade tem por efeito a apreensão dos conteúdos subjetivos dos pacientes