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INTRODUCTION: Huntington disease (HD) is a hereditary neurodegenerative disorder. Thanks to predictive diagnosis, incipient clinical characteristics have been described in the prodromal phase. OBJECTIVE: To compare performance in cognitive tasks of carriers (HDC) and non-carriers (non-HDC) of the huntingtin gene and to analyse the variability in performance as a function of disease burden and proximity to the manifest stage (age of symptom onset). METHOD: A sample of 146 participants in a predictive diagnosis of HD programme were divided into the HDC (41.1%) and non-HDC groups (58.9%). Mathematical formulae were used to calculate disease burden and proximity to the manifest stage in the HDC group; these parameters were correlated with neuropsychological performance. RESULTS: Significant differences were observed between groups in performance on the Mini-Mental State Examination (MMSE), Stroop-B, Symbol-Digit Modalities Test (SDMT), and phonological fluency. In the HDC group, correlations were observed between disease burden and performance on the MMSE, Stroop-B, and SDMT. The group of patients close to the manifest stage scored lowest on the MMSE, Stroop-B, Stroop-C, SDMT, and semantic verbal fluency. According to the multivariate analysis of covariance, the MMSE effect shows statistically significant differences in disease burden and proximity to onset of symptoms. CONCLUSIONS: Members of the HDC group close to the manifest phase performed more poorly on tests assessing information processing speed and attention. Prefrontal cognitive dysfunction appears early, several years before the motor diagnosis of HD.
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Transtornos Cognitivos , Disfunção Cognitiva , Doença de Huntington , Humanos , Doença de Huntington/genética , Cognição , Efeitos Psicossociais da DoençaRESUMO
INTRODUCTION: Percutaneous endoscopic gastrostomy (PEG) is a useful intervention for patients with impaired swallowing and a functional gastrointestinal system. Neurological diseases that cause neuromotor dysphagia, brain tumors, and cerebrovascular disease are the most frequent indications; complications are rare, and morbidity and mortality rates are low. OBJECTIVE: To describe the usefulness of PEG in patients with neurological diseases, and its impact on care, survival, and costs and benefits. MATERIAL AND METHODS: We performed a retrospective observational study, reviewing clinical files of patients hospitalised at the National Institute of Neurology and Neurosurgery (years 2015-2017) who underwent PEG placement. RESULTS: The sample included 51 patients: 62.7% were women and the mean (SD) age was 54.4 (18.6) years (range, 18-86). Diagnosis was tumor in 37.3% of cases and cerebrovascular disease in 33.3%. Sixteen patients (33.3%) died and 11 presented minor complications. The PEG tube remained in place for a mean of 9.14 months; in 52.9% of patients it was removed due to lack of improvement and/or tolerated oral intake, with removal occurring after a mean of 5.1 (4.4) months. Among patients' family members, 78.4% reported a great benefit, 43.1% reported difficulty caring for the PEG, and 45.1% reported complicated care in general. The monthly cost of maintaining the PEG was 175.78 on average (range, 38.38-293.45). DISCUSSION AND CONCLUSIONS: This preliminary study reveals that PEG was well indicated in patients with neurological diseases, with survival rates similar to those reported in other studies with long follow-up periods. In patients with cerebrovascular disease, the PEG tube remained in place a mean of 9.14 months, during recovery of swallowing function; however, the cost is high for our population.
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Neoplasias Encefálicas , Transtornos Cerebrovasculares , Transtornos de Deglutição , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Transtornos de Deglutição/etiologia , Nutrição Enteral/efeitos adversos , Feminino , Gastrostomia/efeitos adversos , Humanos , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
OBJECTIVE: The aim of this work was to evaluate the quality of life of patients with multiple sclerosis and its association with depressive symptoms and physical health. METHOD: A total of 117 patients clinically diagnosed with Multiple Sclerosis (MS) were studied. The MSQOL-54 scale was applied. The depressive symptoms were assessed using the Beck Depression Inventory (BDI), while degree of physical disability was evaluated with the EDSS (Expanded Disability Status Scale). The results of these last two instruments were associated with MSQOL-54 to determine its influence on the perception of quality of life. RESULTS: We evaluated 65 women (56%) and 52 men (44%), with a mean age of 35 years, a mean age of 27 years at the time of diagnosis, and a mean evolution of 8 years. 88% of the patients showed the relapsing-remitting subtype; 42% had paid employment; 29% of the studied patients required help to perform daily activities; 75% took disease-modifying medications. They obtained on average a score of 3.62⯱â¯2.30 on the EDSS and 11.5⯱â¯9.21 on the BDI. The general average in MSQOL-54 was 64.67⯱â¯17.52. CONCLUSIONS: Quality of life, in patients with multiple sclerosis is an issue that worries health personnel, it is essential to implement strategies for reducing the impact of the disease on patients' lives, mainly through the application of programs aimed to decrees depression and improve social support.
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Atividades Cotidianas , Depressão/fisiopatologia , Pessoas com Deficiência , Limitação da Mobilidade , Esclerose Múltipla/fisiopatologia , Qualidade de Vida , Adolescente , Adulto , Idoso , Estudos Transversais , Depressão/etiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/complicações , Esclerose Múltipla Recidivante-Remitente/complicações , Esclerose Múltipla Recidivante-Remitente/fisiopatologia , Adulto JovemRESUMO
INTRODUCTION AND AIMS: This study describes the emotional and personal consequences of providing care to amyotrophic lateral sclerosis (ALS) patients. SUBJECTS AND METHODS: Six caregivers aged from 23 to 67 years old (mean age: 38.2 +/- 15.6), weight interviewed. The Hospital Anxiety and Depression Scale (HAS) and the OARS Activities of Daily Living Questionnaire were applied. The subjects were interviewed with semi-structured questions about medical information, caregiver burden, coping, social support, impact on his/her health, stressor and religious resources. In order to be included in the research, the subject had to be an ALS patient caregiver. Every interview was audio recorded and transcribed, and a content analysis was realized. RESULTS: They show emotions caused by unfavorable life conditions and were classified into seven main categories: 1) defenselessness, 2) negative affection, 3) hope, 4) sadness, 5) depression, 6) isolation and 7) loneliness. CONCLUSION: This study shows that providing care to ALS patient affects the familiar, social and emotional caregiver's system.