Spanish Validation of the Problem Behaviors Assessment-Short (PBA-s) for Huntington's Disease.

A prospective, observational multicenter study was carried out assessing neuropsychiatric symptoms in a sample of 117 subjects in order to validate the Spanish version of the Problem Behaviors Assessment-Short (PBA-s). The psychometric properties of this version were analyzed. Inter- and intra-rater reliability were good: the mean weighted Cohen's kappa was 0.90 for severity scores and 0.93 for frequency scores. Four factors accounting for 56% of the total variance were identified after an exploratory factor analysis: apathy, irritability, depression, and perseveration. The PBA-s correlates strongly with the Neuropsychiatric Inventory, demonstrating its accuracy for assessing neuropsychiatric symptoms in patients with Huntington's disease.

Deep brain stimulation in treatment resistant schizophrenia: A pilot randomized cross-over clinical trial.

BACKGROUND: Up to 30% of patients with schizophrenia are resistant to antipsychotic drug treatment, with 60% of such cases also failing to respond to clozapine. Deep brain stimulation (DBS) has been used in treatment resistant patients with other psychiatric disorders, but there is a lack of trials in schizophrenia, partly due to uncertainties over where to site the electrodes. This trial aimed to examine the effectiveness of nucleus accumbens (NAcc) and subgenual anterior cingulate cortex (subgenual ACC) targeted DBS; the primary outcome measure was PANSS total score, as assessed fortnightly. METHODS: Eight patients with schizophrenia, who met criteria for treatment resistance and were also resistant to/intolerant of clozapine, were randomly assigned using central allocation to receive DBS in the NAcc or subgenual ACC. An open stabilization phase lasting at least six months was followed by a randomized double-blind crossover phase lasting 24 weeks in those who met symptomatic improvement criteria. The primary end-point was a 25% improvement in PANSS total score. (ClinicalTrials.gov Identifier: NCT02377505; trial completed). FINDINGS: One implanted patient did not receive DBS due to complications of surgery. Of the remaining 7 patients, 2/3 with NAcc and 2/4 with subgenual ACC electrode placements met the symptomatic improvement criteria (58% and 86%, and 37% and 68% improvement in PANSS total score, respectively). Three of these patients entered the crossover phase and all showed worsening when the stimulation was discontinued. The fourth patient worsened after the current was switched off accidentally without her or the investigators' knowledge. Physical adverse events were uncommon, but two patients developed persistent psychiatric adverse effects (negative symptoms/apathy and mood instability, respectively). INTERPRETATION: These preliminary findings point to the possibility of DBS having therapeutic effects in patients with schizophrenia who do not respond to any other treatment. Larger trials with careful attention to blinding will be necessary to establish the extent of the benefits and whether these can be achieved without psychiatric side-effects.

Terapias no farmacológicas en la enfermedad de Huntington y en el daño cerebral relacionado con el alcohol / No disponible

Las terapias no farmacológicas son protagonistas de los programas de rehabilitación psicosocial del Hospital Mare de Déu de la Mercè. En este artículo se revisa el papel que la terapia física y la equinoterapia desempeñan en la rehabilitación de los pacientes con enfermedad de Huntington y en el daño cerebral relacionado con alcohol, describiéndose los objetivos de trabajo y la metodología empleada (AU)

Non pharmacological therapies are a main component of the psychosocial rehabilitation program of Mare de Déu de la Mercè Hospital. In this paper the use of physical therapy and equine therapy in patients suffering from Huntington disease and brain injury related to alcohol abuse are reviewed, describing their aims and applied methodology (AU)

Modelo de atención a la enfermedad de Huntington en Cataluña / No disponible

La enfermedad de Huntington es una enfermedad neurodegenerativa minoritaria y de base genética con una gran complejidad clínica que implica una gran dificultad para planificar un modelo de atención específico. En este artículo se revisa el proceso de análisis, discusión y elaboración del modelo de atención a la Enfermedad de Huntington llevado a cabo en Cataluña en los últimos año basado en asegurar una adecuada continuidad asistencial en las distintas fases evolutivas y en la existencia de un equipo gestor de casos que sea el responsable de evaluar las necesidades, coordinar los distintos recursos necesarios para atenderlas y que acompañe al paciente y su familia a lo largo de todo el proceso asistencial

Huntington's disease (HD) is a rare genetic neurodegenerative disease. Due to its clinical complexity, planning a specific care model becomes a challenge. In this paper the HD care model in Catalonia development is reviewed. This model is based on assurance of proper care continuity at the different stages of the disease and on existence of a care management team responsible of needs assessment, resource coordination, and patient and relatives accompaniment throughout the continuum of illness

Neuropsiquiatría de la enfermedad de huntington / No disponible

La enfermedad de Huntington es una patología de base genética, neurodegenerativa y con una clínica caracterizada por sintomatología motora, cognitiva, funcional y psiquiátrica. Se revisa la sintomatología neuropsiquiatría presente tanto en personas consideradas portadores asintomáticos (aquellos con un test predictivo positivo, pero sin evidencia de signos motores característicos)como en pacientes con enfermedad de Huntington manifiesta. La apatía, la irritabilidad y la sintomatología depresiva son los síntomas más prevalentes en portadores asintomáticos, pudiendo preceder en años al debut motor. En pacientes con EH manifiesta, se observa la presencia de clústers sintomáticos: depresión, disfunción ejecutiva, irritabilidad y psicosis. Dada la importancia de la ideación suicida y de los suicidios consumados se profundiza en esta sintomatología (AU)

Huntington’s disease is a genetically based disease, neurodegenerative and with clinical symptoms characterized by motor, cognitive, and psychiatric functional. We review the neuropsychiatric symptoms present in both people considered asymptomatic carriers (those with a positive predictive test, but no evidence of characteristic motor signs) and in patients with Huntington’s disease manifests. Apathy, irritability and depressive symptoms are the most prevalent symptoms in asymptomatic carriers and may appear years before the debut motor. In HD patients manifest, revealing the presence of symptomatic clusters: depression, executive dysfunction, irritability and psychosis. Given the importance of suicidal ideation and completed suicides in these symptoms deepens (AU)