Ejecución neuropsicológica y carga de enfermedad en sujetos en riesgo de desarrollar enfermedad de Huntington / Neuropsychological performance and disease burden in individuals at risk of developing Huntington disease

Introducción La enfermedad de Huntington (EH) es un trastorno neurodegenerativo y hereditario. Gracias al diagnóstico predictivo se han descrito características clínicas incipientes en la fase prodrómica. Objetivo Comparar la ejecución en tareas cognitivas de portadores (PEH) del gen de la huntingtina y no portadores (NPEH) y observar la variabilidad en la ejecución, dependiendo de la carga de la enfermedad y cercanía a la etapa manifiesta (edad de inicio de los síntomas). Método Los 146 participantes de un Programa de Diagnóstico Predictivo de EH (PDP-EH) fueron divididos en PEH (41,1%) y NPEH (58,9%). Mediante fórmulas matemáticas se obtuvo la carga de enfermedad y cercanía a la etapa manifiesta en el grupo PEH y se correlacionó con la ejecución neuropsicológica. Resultados Se observaron diferencias significativas entre los grupos con las pruebas Mini-Mental State Examination (MMSE), Stroop-B, SDMT y fluidez fonológica. En el grupo PEH se observaron correlaciones entre la carga de enfermedad con la MMSE, Stroop-B y SDMT. El grupo «Cerca» de la etapa manifiesta es el que obtuvo la puntuación más baja en las pruebas MMSE, Stroop-B, Stroop-C, SDMT y fluidez verbal semántica. De acuerdo al MANCOVA, el efecto MMSE evidencia diferencias estadísticamente significativas entre carga de la enfermedad y la cercanía de inicio de los síntomas. Conclusiones Se observa un nivel menor de desempeño en el grupo PEH con probabilidad de inicio cercano de la fase manifiesta en pruebas que evalúan la velocidad de procesamiento y atención. La disfunción cognitiva prefrontal se altera de manera precoz varios años antes del diagnóstico motor de la EH. (AU)

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. (AU)

Neuropsychological performance and disease burden in individuals at risk of developing Huntington disease.

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.

Psychological discomfort in carriers and non-carriers of the Huntington disease mutation and its relationship with disease burden.

INTRODUCTION: Huntington's disease (HD) is a neurodegenerative and hereditary disorder. Due to the predictive diagnosis, incipient clinical characteristics have been described in the prodromal phase. Several studies have reported an increase in psychiatric symptoms in carriers of the HD gene without motor symptoms. OBJECTIVE: To identify psychological distress in carriers of the mutation that causes HD, without motor symptoms, utilizing the Symptom Checklist 90 (SCL-90), and to correlate with the burden and proximity of the disease. METHOD: A sample of 175 participants in a HD Predictive Diagnostic Program (PDP-HD) was divided into HEP carriers (39.4%) and NPEH non-carriers (61.6%) of the HD-causing mutation. By means of mathematical formulas, the disease burden and proximity to the manifest stage in the PEH group were obtained and it was correlated with the results of the SCL-90-R. RESULTS: Comparing the results obtained in the SCL-90-R of the PEH and NPEH, the difference is observed in the positive somatic male index, where the PEH obtains higher average scores. The correlations between disease burden and psychological distress occur in the domains; obsessions and compulsions, interpersonal sensitivity, hostility, global severity index and positive somatic distress index. A low correlation is observed between the burden of disease and the scores obtained in psychological discomfort. CONCLUSIONS: In general, we found that the PEH group obtained a higher score in the dimensions evaluated with the SCL-90-R, showing a relationship with the burden and differences due to the proximity of the disease. Higher scores on the SCL-90-R dimensions in carriers of the HD gene may suggest an early finding of psychological symptoms in the disease.

Exploratory study on gastrostomy in patients with neurological diseases: usefulness and impact.

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.

Estudio exploratorio sobre gastrostomía en pacientes con enfermedades neurológicas: utilidad e impacto / Exploratory study on gastrostomy in patients with neurological diseases: usefulness and impact

Introducción: La gastrostomía endoscópica percutánea (GEP) es útil para personas con problemas de la vía oral con viabilidad de la vía gástrica. Las enfermedades neurológicas que producen disfagia neuromotora, tumores cerebrales y enfermedad vascular cerebral son las que tienen mayor indicación; las complicaciones son escasas y baja la morbimortalidad. Objetivo: Describir la utilidad de la GEP en pacientes con enfermedades neurológicas y el impacto en el cuidado, sobrevida y coste-beneficio. Material y métodos: Estudio observacional retrospectivo, mediante revisión de expedientes clínicos de pacientes hospitalizados en el Instituto Nacional de Neurología y Neurocirugía (años 2015-2017) que se realizó GEP. Resultados: Se incluyeron 51 pacientes: 62,7% mujeres, edad promedio 54,4 ± 18,6 años (rango; 18 a 86). Diagnósticos: tumor del SNC 37,3% y EVC 33,3%. Mortalidad 33,3% (16 pacientes): 11 presentaron complicaciones menores. Permanencia de la GEP: promedio 9,14 meses. Al 52,9% se le retiró por mejoría y/o toleró la VO, con tiempo promedio 5,1 ± 4,4 meses. El 78,4% de los familiares reportó gran beneficio, el 43,1% percibió difícil el cuidado de la GEP y el 45,1% refirió complicado el cuidado en general. El coste de mantener la GEP mensual fue de 175,78 € en promedio (rango de 38,38 a 293,45 €). Discusión y conclusiones: Este primer estudio revela que la GEP fue bien indicada en pacientes con enfermedades neurológicas, con sobrevida similar a la reportada en otras investigaciones con seguimiento prolongado. En pacientes con EVC la permanencia de la GEP fue de 9,14 meses en promedio, por recuperación de la vía oral; sin embargo, el coste es elevado para nuestra población. (AU)

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. (AU)

Neuropsychological performance and disease burden in individuals at risk of developing Huntington disease. / Ejecución neuropsicológica y carga de enfermedad en sujetos en riesgo de desarrollar enfermedad de Huntington.

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.

Quality of life in patients with multiple sclerosis and its association with depressive symptoms and physical disability.

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.

Exploratory study on gastrostomy in patients with neurological diseases: usefulness and impact. / Estudio exploratorio sobre gastrostomía en pacientes con enfermedades neurológicas: utilidad e impacto.

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.

Debut sexual y conocimientos sobre el usode anticonceptivos en una población adolescente. Programa Forma Joven / No disponible

Es labor importante dentro de la cartera de Atención Primaria la promoción y protección de la salud, especialmente en los sectores depoblación más vulnerables. Entre este colectivo se encuentran los jóvenes adolescentes en la fase educativa ESO y Bachillerato. El ProgramaForma Joven pone en marcha herramientas que, a través de las enfermeras de Atención Primaria, contribuye a proteger la salud y potenciarlos hábitos saludables. Gracias a este programa las enfermeras tenemos ocasión de contactar con la población juvenil y pulsar sus inquietudesy tendencias, analizando situaciones que nos pueden ayudar en nuestra práctica asistencial. Recogemos en este trabajo una seriede elementos que nos ponen en antecedentes sobre el comportamiento sexual de un grupo de jóvenes y sobre los conocimientos quetienen de los anticonceptivos habituales y de urgencia (píldora poscoital). Estos datos tienen una repercusión directa sobre nuestro trabajoen el Programa ya que nos ayudan a aportar conocimientos donde existen lagunas o a enderezar situaciones que detectamos están desviadaspor desconocimiento o información errónea (AU)

Summary: In primary care it is an important task to promote and protect health, especially among those population who are more vulnerable.In this group, there are young teens en the educative period of secondary education. Young shape program provides tools that,through nurses of primary care, helps to protect health and to promote healthy habits. Thanks to that program, nurses have the chanceto establish contact with young population and deal with their worries and tendencies, analyzing actions that can help in our clinical practice.We compile in this study different elements that inform us about sexual behabiours of a group of teens and about the information thatthey have about usual/urgency contraceptives (morning-after pill). These data has direct impact about our work in the Program as theyhelp us to know where there are gaps or to improve situations that are risky because of ignorance or mistaken information (AU)

[Emotional consequences of providing care to amyotrophic lateral sclerosis patients]. / Consecuencias emocionales del cuidado del paciente con esclerosis lateral amiotrófica.

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.

Consecuencias emocionales del cuidado del paciente con esclerosis lateral amiotrófica / Emotional consequences of providing care to amyotrophic lateral sclerosis patients

Introducción y objetivos. Este trabajo estudia las consecuencias que tiene el cuidado de un enfermo con esclerosis lateral amiotrófica (ELA) en la vida emocional y personal del cuidador. Sujetos y métodos. Se entrevistó a seis cuidadores con edades entre 23 y 67 años (x = 38,2 ± 15,6), se les aplicó la escala de ansiedad y depresión hospitalaria (HAS), la escala sobre actividades de la vida diaria (OARS) y una serie de preguntas semiestructuradas sobre información médica, carga del cuidador, afrontamiento, apoyo social, impacto en la salud, agentes estresantes y recursos religiosos. Para ser incluido en la investigación, el participante debía ser el cuidador del paciente con ELA. Todas las entrevistas fueron grabadas y transcritas, y se llevó a cabo un análisis de su contenido. Resultados. El estudio muestra la existencia de emociones provocadas por condiciones de vida desfavorable, que se han agrupado en siete categorías principales: 1) indefensión; 2) afecto negativo; 3) esperanza; 4) tristeza; 5) depresión; 6) aislamiento; y 7) soledad. Conclusión. Se pone de manifiesto que el brindar cuidado a un enfermo con ELA afecta al sistema familiar, social y emocional del cuidador

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