Clinical characteristics and impact on patient-reported outcomes and quality of life of people with ambulatory secondary progressive multiple sclerosis: Discover study.

BACKGROUND: People with secondary progressive multiple sclerosis (pwSPMS) experience increasing disability, which impacts negatively on their health-related quality of life (HRQoL). Our aims were to assess the impact of secondary progressive multiple sclerosis (SPMS) on functional status and HRQoL and describe the clinical profile in this population. METHODS: DISCOVER is an observational, cross-sectional, multicenter study with retrospective data collection in real-world clinical practice in Spain. Sociodemographic and clinical variables, functional and cognitive scales, patient-reported outcomes (PROs), and direct healthcare, and non-healthcare and indirect costs were collected. RESULTS: A total of 297 evaluable pwSPMS with a EDSS score between 3-6.5 participated: 62.3 % were female and 18.9 % had active SPMS. At the study visit, 77 % of them presented an Expanded Disability Scale Score (EDSS) of 6-6.5. Nearly 40 % did not receive any disease-modifying treatment. Regarding the working situation, 61.6 % were inactive due to disability. PROs: 99.3 % showed mobility impairment in EuroQoL-5 Dimensions-5 Levels, and about 60 % reported physical impact on the Multiple Sclerosis Impact Scale-29. Fatigue was present in 76.1 %, and almost 40 % reported anxiety or depression. The Symbol Digit Modalities Test was used to assess cognitive impairment; 80 % of the patients were below the mean score. Participants who presented relapses two years before and had high EDSS scores had a more negative impact on HRQoL. PwSPMS with a negative impact on HRQoL presented a higher cost burden, primarily due to indirect costs. CONCLUSIONS: PwSPMS experience a negative impact on their HRQoL, with a high physical impact, fatigue, cognitive impairment, and a high burden of indirect costs.

SARS-CoV-2 Infection in Multiple Sclerosis: Results of the Spanish Neurology Society Registry.

OBJECTIVE: To understand COVID-19 characteristics in people with multiple sclerosis (MS) and identify high-risk individuals due to their immunocompromised state resulting from the use of disease-modifying treatments. METHODS: Retrospective and multicenter registry in patients with MS with suspected or confirmed COVID-19 diagnosis and available disease course (mild = ambulatory; severe = hospitalization; and critical = intensive care unit/death). Cases were analyzed for associations between MS characteristics and COVID-19 course and for identifying risk factors for a fatal outcome. RESULTS: Of the 326 patients analyzed, 120 were cases confirmed by real-time PCR, 34 by a serologic test, and 205 were suspected. Sixty-nine patients (21.3%) developed severe infection, 10 (3%) critical, and 7 (2.1%) died. Ambulatory patients were higher in relapsing MS forms, treated with injectables and oral first-line agents, whereas more severe cases were observed in patients on pulsed immunosuppressors and critical cases among patients with no therapy. Severe and critical infections were more likely to affect older males with comorbidities, with progressive MS forms, a longer disease course, and higher disability. Fifteen of 33 patients treated with rituximab were hospitalized. Four deceased patients have progressive MS, 5 were not receiving MS therapy, and 2 were treated (natalizumab and rituximab). Multivariate analysis showed age (OR 1.09, 95% CI, 1.04-1.17) as the only independent risk factor for a fatal outcome. CONCLUSIONS: This study has not demonstrated the presumed critical role of MS therapy in the course of COVID-19 but evidenced that people with MS with advanced age and disease, in progressive course, and those who are more disabled have a higher probability of severe and even fatal disease.

Evolving brain functional abnormalities in PSEN1 mutation carriers: a resting and visual encoding fMRI study.

PSEN1 mutations are the most frequent cause of familial Alzheimer's disease and show nearly full penetrance. Here we studied alterations in brain function in a cohort of 19 PSEN1 mutation carriers: 8 symptomatic (SMC) and 11 asymptomatic (AMC). Asymptomatic carriers were, on average, 12 years younger than the predicted age of disease onset. Thirteen healthy subjects were used as a control group (CTR). Subjects underwent a 10-min resting-state functional magnetic resonance imaging (fMRI) scan and also performed a visual encoding task. The analysis of resting-state fMRI data revealed alterations in the default mode network, with increased frontal connectivity and reduced posterior connectivity in AMC and decreased frontal and increased posterior connectivity in SMC. During task-related fMRI, SMC showed reduced activity in regions of the left occipital and left prefrontal cortices, while both AMC and SMC showed increased activity in a region within the precuneus/posterior cingulate, all as compared to CTR. Our findings suggest that fMRI can detect evolving changes in brain mechanisms in PSEN1 mutation carriers and support the use of this technique as a biomarker in Alzheimer's disease, even before the appearance of clinical symptoms.

Riesgo de maltrato hacia el paciente con demencia / Risk of abusive behavior to patients with dementia

Objetivo: Estudiar el riesgo de maltrato en una población de pacientes con demencia por parte de sus cuidadores principales, su correlación con otros factores y sus posibles indicadores predictivos. Metodología: Estudio transversal y observacional sobre 143 pacientes con demencia, con 4-6 en la Escala de Deterioro Global de Reisberg (GDS), y sus cuidadores principales. El riesgo de maltrato por parte del cuidador se evaluó con el Caregiver Abuse Screen (CASE). Se analizaron otras variables demográficas, clínicas, cognitivas, psicopatológicas y funcionales en pacientes y cuidadores. Resultados: La edad media de los pacientes fue de 77,53 ± 7,4 años (67,1% diagnosticados de probable enfermedad de Alzheimer). La edad media de los cuidadores fue de 57,69 ± 15,39 años (68,5% mujeres; 49% hijos del paciente; 30,1% cónyuges). El 21% de los pacientes con demencia tenían riesgo de sufrir maltrato, según el CASE. El estudio de regresión lineal mostró que la sobrecarga del cuidador y su impulsividad, junto a la agresividad y comorbilidad psiquiátrica del paciente, aumentaban el riesgo de maltrato del cuidador al paciente (R2=0,671; p<0,001). Conclusiones: La agresividad en la relación paciente-cuidador dentro de la demencia es bidireccional. La agresividad del paciente, la sobrecarga del cuidador y su impulsividad fueron los principales factores de riesgo de maltrato al paciente en este estudio(AU)

Objective: To study the risk of abuse in a population of patients with dementia by their primary caregivers, its correlation with other factors and possible predictive indicators. Methods: Transversal and observational study on 143 patients with dementia, GDS 4-6, and their primary caregivers. The risk of abuse by the caregiver was assessed with the Caregiver Abuse Screen (CASE). Other demographic, clinical, cognitive, psychopathological and functional variables were analyzed in patients and caregivers. Results: The mean age of patients was 77.53 ± 7.4 years (67.1 % diagnosed with probable Alzheimer's disease). The average age of caregivers was 57.69 ± 15.39 years (68.5% women; 49% children of the patient, 30.1 % spouses). Twenty-one percent of patients with dementia were at risk of being abused, according to CASE. The linear regression analysis showed that caregiver burden and impulsivity, patient’s aggressive behavior and psychiatric comorbidity increased the risk of abuse of the caregiver to the patient (R2=0.671, P<0.001). Conclusions: Aggression in the patient-caregiver relationship in dementia is bidirectional. Patient aggressiveness, and caregiver burden and impulsivity were the main risk factors for patient abuse in this study(AU)

[Acquired brain injury: a proposal for its definition, diagnostic criteria and classification]. / Dano cerebral sobrevenido: propuesta de definicion, criterios diagnosticos y clasificacion.

Acquired brain injury is a heterogeneous clinical concept that goes beyond the limits of the classical medical view, which tends to define processes and diseases on the grounds of a single causation. Although in the medical literature it appears fundamentally associated to traumatic brain injury, there are many other causes and management is similar in all of them, during the post-acute and chronic phases, as regards the measures to be taken concerning rehabilitation and attention to dependence. Yet, despite being an important health issue, today we do not have a set of diagnostic criteria or a classification for this condition. This is a serious handicap when it comes to carrying out epidemiological studies, designing specific care programmes and comparing results among different programmes and centres. Accordingly, the Extremadura Acquired Brain Injury Health Care Plan working group has drawn up these proposed diagnostic criteria, definition and classification. The proposal is intended to be essentially practical, its main purpose being to allow correct identification of the cases that must be attended to and to optimise the use of neurorehabilitation and attention to dependence resources, thereby ensuring attention is provided on a fair basis.

Daño cerebral sobrevenido: propuesta de definición, criterios diagnósticos y clasificación / Acquired brain injury: a proposal for its definition, diagnostic criteria and classification

El daño cerebral sobrevenido es un concepto clínico heterogéneo que supera la clásica visión médica, tendente a definir los procesos y enfermedades a partir de una etiología única. Aunque en la literatura médica aparece asociado fundamentalmente al traumatismo craneoencefálico, existen otras muchas causas y el abordaje de todas ellas es similar, durante las fases postaguda y crónica, en lo referente a las medidas de rehabilitación y atención a la dependencia. Sin embargo, a pesar de ser un importante problema de salud, hoy en día carecemos de unos criterios diagnósticos y de una clasificación para esta entidad. Esto supone un importante hándicap para la elaboración de estudios epidemiológicos, el diseño de programas asistenciales específicos y la comparación de resultados entre diferentes programas y centros. Por ello, el Grupo de Trabajo del Plan de Atención al Daño Cerebral Sobrevenido de Extremadura ha realizado esta propuesta de definición, criterios diagnósticos y clasificación, que tiene un carácter eminentemente práctico, con la finalidad de identificar correctamente los casos que deben ser atendidos y optimizar el uso de los recursos de neurorrehabilitación y atención a la dependencia, garantizando la equidad en la atención (AU)

Acquired brain injury is a heterogeneous clinical concept that goes beyond the limits of the classical medical view, which tends to define processes and diseases on the grounds of a single causation. Although in the medical literature it appears fundamentally associated to traumatic brain injury, there are many other causes and management is similar in all of them, during the post-acute and chronic phases, as regards the measures to be taken concerning rehabilitation and attention to dependence. Yet, despite being an important health issue, today we do not have a set of diagnostic criteria or a classification for this condition. This is a serious handicap when it comes to carrying out epidemiological studies, designing specific care programmes and comparing results among different programmes and centres. Accordingly, the Extremadura Acquired Brain Injury Health Care Plan working group has drawn up these proposed diagnostic criteria, definition and classification. The proposal is intended to be essentially practical, its main purpose being to allow correct identification of the cases that must be attended to and to optimise the use of neurorehabilitation and attention to dependence resources, thereby ensuring attention is provided on a fair basis (AU)

Influence of premorbid psychopathology and lesion location on affective and behavioral disorders after ischemic stroke.

Early recognition of psychopathological symptoms (PSs) after stroke is important because they greatly influence the recovery of patients. The aim of this study was to investigate the predictive factors of PSs occurring in patients with ischemic stroke. Eighty-nine patients were prospectively evaluated upon admission and 4, 12, and 26 weeks later with the Neuropsychiatric Inventory, Hamilton's Rating Scales for Depression and Anxiety, and a battery of neuropsychological and functional scales. Depression and apathy were the most frequent PSs detected after stroke. Premorbid psychopathologies and right-hemisphere location were the main predictive indicators of early and long-term PSs.

[Genetic screening for the LRRK2, G2019S and R1441 codon mutations in Parkinson's disease patients from Extremadura, Spain]. / Prevalencia de las mutaciones G2019S y R1441 de LRRK2 en pacientes con enfermedad de Parkinson en Extremadura, España.

INTRODUCTION: LRRK2 mutations have been described as a common cause of Parkinson's disease (PD) in patients from northern Spain. Here we investigated the prevalence of these mutations in a cohort of Spanish PD patients (n = 96) from Extremadura, a region in southwestern Spain. SUBJECTS AND METHODS: To evaluate the rate of the G2019S and R1441G/C/H LRKK2 mutations in PD patients and healthy controls (n = 163). RESULTS: Here we show that the G2019S mutation is present at a low prevalence in our Spanish cohort, while the R1441G/C/H mutation, which has been reported to be common in northern Spain, was not observed in the PD patients or in the controls. CONCLUSION: LRRK2 mutations do not appear to be a common cause of Parkinson's disease in Extremadura, Spain.

Prevalencia de las mutaciones G2019S y R1441 de LRRK2 en pacientes con enfermedad de Parkinson en Extremadura, España / Genetic screening for the LRRK2, G2019S and R1441 codon mutations in Parkinson’s disease patients from Extremadura, Spain

Introducción. Las mutaciones en el gen que codifica para la proteína LRRK2 se han asociado frecuentemente con la enfermedad de Parkinson (EP) en pacientes en el norte de España. En este artículo se determina la prevalencia de algunas de las mutaciones más frecuentes en una cohorte de pacientes con EP (n = 96) en Extremadura, región situada en el suroeste de España. Sujetos y métodos. Se pretende determinar la presencia de las mutaciones G2019S y R1441G/C/H de LRRK2 en pacientes con EP y en individuos sanos (n = 196). Resultados. La mutación G2019S se presenta con una baja prevalencia en nuestra muestra, mientras que las mutaciones R1441G/C/H, frecuentes en el norte de España, no se han detectado en la muestra de enfermos ni en los controles. Conclusión. Las mutaciones en LRRK2 no parecen ser una causa frecuente de la EP en Extremadura (AU)

Introduction. LRRK2 mutations have been described as a common cause of Parkinson’s disease (PD) in patients from northern Spain. Here we investigated the prevalence of these mutations in a cohort of Spanish PD patients (n = 96) from Extremadura, a region in southwestern Spain. Subjects and methods. To evaluate the rate of the G2019S and R1441G/C/H LRKK2 mutations in PD patients and healthy controls (n = 163). Results. Here we show that the G2019S mutation is present at a low prevalence in our Spanish cohort, while the R1441G/C/H mutation, which has been reported to be common in northern Spain, was not observed in the PD patients or in the controls. Conclusion. LRRK2 mutations do not appear to be a common cause of Parkinson’s disease in Extremadura, Spain (AU)