Perfil epidemiológico, sociodemográfico e psicossocial da doença de Charcot-Marie-Tooth

• Autor(a) principal: Santos, Lidiane Carine Lima
• Data de Publicação: 2016
• Tipo de documento: Tese
• Idioma: por
• Título da fonte: Repositório Institucional da UFS
• Texto Completo: https://ri.ufs.br/handle/riufs/3625
• topic: Ciências da saúde; Doença de Charcot-Marie-Tooth; Neuropatia; Epidemiologia; Saúde pública; Prevalência; Sergipe; Charcot-Marie-Tooth disease; Epidemiology; Prevalence and public health; CIENCIAS DA SAUDE

Charcot-Marie-Tooth (CMT) disease is the most common genetically determined neurological condition in the world. It is characterized by a slow and progressive degeneration of the peripheral nerves, leading to weakness and atrophy of distal limb muscles. CMT is classified in two main subgroups: CMT type 1 (CMT1), demyelinating form, and CMT type 2 (CMT2), axonal form. The first objective of this study was to conduct a systematic review of the prevalence of CMT disease in the world and the second was to evaluate the epidemiological, socio-demographic and psychosocial profile of families with CMT disease in the State of Sergipe, Brazil. Methods: a systematic survey of the literature was carried out using the following databases: MEDLINE-PubMed, Web of Science, Scopus and CINAHL (January 1990 to May 2015). Apart from this, a descriptive, observational and cross-sectional epidemiological study was carried out by means of interview and clinical evaluation of patients with the disease (CMT Group or CMTG) and non-affected family members called the control group (CG) in the municipalities of Tobias Barreto, Pedrinhas and Itabaianinha - SE. The collection of data included evaluation of socio-demographic characteristics, anthropometric measurements, lifestyle, clinical conditions, co-morbidities, mental health (levels of anxiety and depression), standards of feminine sexual behavior and gynecological and obstetric profiles. Results: in article 1, 12 studies were included in the systematic review, where the prevalence of CMT varied from 9.7/ 100,000 inhabitants in Serbia to 82.3/ 100,000 in Norway. The frequency of the main subtypes in the countries varied from 37.6% to 84% for CMT1 and from 12% to 35.9% for CMT2. In article 2, 90 individuals from 6 families with CMT were interviewed; the prevalence of CMT in Sergipe was of 62/ 100,000 inhabitants; the prevalence of CMT1 was of 37/ 100,000 inhabitants and of CMT2 was of 25/ 100,000. The majority presented the onset of signs and symptoms in childhood. There was a greater incidence of illiteracy among those affected, with a significant difference between the groups CMTG (19.5%) and CG (6%). Elevated levels of anxiety and depression were observed. Changes in sexual activity were observed in 47% of the women. Of these, 88% related to rarely or never use condoms; the most used contraceptive methods were oral and injectable contraceptives; as to fertility, the CG had on average 1.93 children, while the CMTG had on average 2.47 children. Conclusion: the results reveal the gaps, which still exist in the epidemiological knowledge of CMT across the world. The high prevalence of CMT in Sergipe, the elevated index of illiteracy among the individuals presenting signs and symptoms of CMT and the shorter reproductive cycle of women with CMT indicate the impact of the disease in the state. Future research is needed with a focus on the epidemiological characteristics of CMT in different nations and ethnic groups.