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.

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.

Effects of deep sedation under mechanical ventilation on cognitive outcome in patients undergoing surgery for oral and maxillofacial cancer and microvascular reconstruction.

OBJECTIVE: Cognitive impairment after intensive care unit (ICU) admission is becoming increasingly recognized. High-dose deep sedation has been suggested to play an important role in the development of cognitive impairment. However, the impact of heavy sedation as a single cause in the development of cognitive impairment in ICU patients remains unclear. In this study we investigated whether a three-day deep sedation protocol could reduce cognitive function in mechanically ventilated non-critical patients. DESIGN: A prospective observational study was carried out. PATIENTS: A total of 17 surgical patients were studied. INTERVENTION: None. VARIABLES OF INTEREST: Cognitive function before and after ICU admission. RESULTS: Thirty-one patients requiring three days of sedation after microvascular reconstruction were initially enrolled in the study. Sedation in the ICU was maintained with propofol and dexmedetomidine combined with fentanyl. Cognitive function was assessed using a battery of 6 neuropsychological tests two days before surgery and three weeks after surgery. Finally, a total of 17 patients were included in the analysis. Cognitive impairment (defined as a decline of >20% from the pre-admission cognitive evaluation scores in at least two of 6 tests) was observed in 5 of the 17 patients (29%). However, there were no significant differences between the pre- and post-admission cognitive evaluations in 6 tests. CONCLUSIONS: Middle-term cognitive function can be impaired in some patients subjected to deep sedation during several days following maxillary-mandibular oral surgery with microvascular reconstruction.

Evaluación de atención y memoria en suje-tos drogodependientes / Attention and memory evaluation in drug-dependent subjects

La exposición a sustancias psicoactivas puede predisponer al individuo a padecer alteraciones de orden cognitivo. La atención y la memoria son las funciones que comúnmente se afectan. Objetivo:El presente estudio evaluó los niveles de atención y memoria en pacientes con trastorno por consumo de sustancia en tres centros especializados. Método:Estudio exploratorio-descriptivo con 60 participantes. La evaluación neuropsicológica se realizó con la batería Neuropsi para atención y memoria. El análisis se realizó mediante estadística descriptiva con frecuencias y porcentajes. Resultados: Se observó que la población investigada presentó un mayor deterioro en el área de memoria con un 70% y en la atención 33.3% de déficit. La memoria de trabajo se encuentra conservada en la mayoría de participantes. Conclusiones:Los resultados indican que el deterioro cognitivo en los niveles de atención y memoria están presentes en sujetos con trastorno por consumo de sustancias, siendo la memoria la función más afectada.

The exposure to psychoactive substances may predispose the individual to suffer alterations cognitive order. Attention and memory are the functions that are commonly affected. Objetive:The present study evaluated the levels of attention and memory in patients with use disorder by substance use in three specialized centers. Method:It is an exploratory-descriptive study with a 60 participants. The neuropsychological evaluation was performed with the Neuropsi battery for attention and memory. The analysis was carried out using descriptive statistics with frequencies and percentages.Results: In this case was observed that the researched population showed a greater deterioration in the area of memory with a 70% of alteration, while in the attention was evidenced 33.3% of deficit. Working memory is preserved in most of the population. Conclusions:The results indicate that cognitive deterioration in attention and memory levels are present in subjects with substance use disorder being the memory the most affected function. There was not a considerable relationship between the time of consumption and cognitive damage.

Alteraciones neuropsicológicas en pacientes con VIH e historia previa de consumo de sustancias. Un estudio preliminar / HIV-related neuropsychological impairment in patients with previous substance use: A preliminary study

El virus de la inmunodeficiencia humana (VIH) puede llegar a producir alteraciones cognitivas que interfieren de forma significativa en la vida diaria de las personas que lo padecen. Estos déficits pueden incrementarse cuando existe historia previa de consumo de sustancias psicoactivas. El objetivo de este trabajo es estudiar el perfil neuropsicológico de un grupo de pacientes con VIH e historia previa de consumo de drogas y compararlo con un grupo de pacientes ex drogodependientes seronegativos. Se administró una batería neuropsicológica a una muestra de 28 sujetos españoles, 14 con VIH y 14 seronegativos, donde se evaluaron los 8 dominios cognitivos que suelen estar más afectados en el VIH: atención/memoria de trabajo, velocidad de procesamiento de la información, memoria/aprendizaje, abstracción/función ejecutiva, lenguaje/verbal y habilidades motoras. Los resultados mostraron peor ejecución del grupo con VIH en todos los dominios cognitivos. El menor rendimiento neuropsicológico del grupo con VIH podría deberse presumiblemente a la acción del virus. Independientemente de cuál sea la etiología del deterioro cognitivo, lo importante es detectar los déficits neuropsicológicos de la forma más precoz posible para mejorar la calidad de vida de los pacientes mediante la intervención neuropsicológica.

Human immunodeficiency virus (HIV) can result in cognitive disorders that significantly interfere with the daily activities of HIV patients. These disorders may be worse when there is a history of psychoactive substance use. Our objective is to assess the neuropsychological profile in a group of HIV patients with previous drug use compared to a group of HIV-negative patients with a history of drug use. The study included a total of 28 Spanish adult subjects, of which 14 were HIV-infected and 14 were HIV-negative. The subjects were assessed using a neuropsychological test battery to evaluate the following 8 most commonly affected cognitive domains in people with HIV: attention and working memory, speed of information processing, memory and learning capacity, abstract thinking and executive functions, speech and language skills, and psychomotor skills. The results showed a worse performance in all the cognitive areas among HIV patients as compared to HIV-negative patients. The worse performance of this group could be a result of the viral infection. Regardless of the cognitive impairment a etiology, the key task here is to diagnose neuropsychological deficits as soon as possible in order to improve the quality of life of HIV patients through neuropsychological intervention.