Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease.

The p.Arg301Gln variant in the α -galactosidase A gene (GLA) has been poorly described in the literature. The few reports show controversial information, with both classical and nonclassical Anderson-Fabry Disease (AFD) presentation patterns. The aim of this study was to analyze the penetrance, clinical phenotype, and biochemical profile of an international cohort of patients carrying the p.Arg301Gln genetic variant in the GLA gene. This was an observational, international, and retrospective cohort case series study of patients carrying the p.Arg301Gln variant in the GLA gene associated with AFD disease. Forty-nine p.Arg301Gln GLA carriers, 41% male, were analyzed. The penetrance was 63% in the entire cohort and 1.5 times higher in men. The mean age of symptoms onset was 41 years; compared to women, men presented symptoms earlier and with a shorter delay to diagnosis. The typical clinical triad-cornea verticillate, neuropathic pain, and angiokeratomas-affected only 20% of the cohort, with no differences between genders. During follow-up, almost 20% of the patients presented some type of nonfatal cardiovascular and renal event (stroke, need for dialysis, heart failure, and arrhythmias requiring intracardiac devices), predominantly affecting men. Residual levels were the most common finding of α-GAL A enzyme activity, only a few women had a normal level; a small proportion of men had undetectable levels. The incidence of combined outcomes including all causes of death was 33%, and the cumulative incidence of all-cause mortality was 9% at the follow-up. Patients carrying the p.Arg301Gln GLA variant have a high penetrance, with predominantly cardiorenal involvement and clinical onset of the disease in middle age. Only a small proportion showed the classic clinical presentation of AFD. As in other X-linked diseases, males were more affected by severe cardiovascular and renal events. This genotype-phenotype correlation could be useful from a practical clinical point of view and for future decision making.

Cutaneous Mixed Tumour: A Rare Presentation of a Scrotal Lump Mimicking an Accessory Testis.

Cutaneous mixed tumour (CMT), also known as chondroid syringoma (CS), is a rare benign tumour composed of epithelial, myoepithelial, and mesenchymal components with an incidence of less than 0.01% of primary skin tumours. It is more common in males and typically presents as a painless slow-growing firm mass in the subcutis of the head and neck region. Genital regions are very rarely involved. We present the case of a 50-year-old male with a 10-year history of an asymptomatic gradually enlarging mass in the upper scrotum. A surgical excision was performed. Microscopic examination showed features of CMT. This case highlights the diagnostic challenges associated with scrotal CMT and surgical management of these lesions. Additionally, we endorse the recommended terminology of CMT used by the fifth edition of WHO Classification of Skin Tumours (2023).

Val50Met hereditary transthyretin amyloidosis: not just a medical problem, but a psychosocial burden.

BACKGROUND: Hereditary transthyretin (TTR) amyloidosis (ATTRv) is a heterogeneous disease with a clinical presentation that varies according to geographical area and TTR mutation. The symptoms of Val50Met-ATTRv are mainly neuropathic and progress to complete disability and death in most untreated patients within 10 to 15 years of diagnosis. The neurological effects may also be accompanied by gastrointestinal impairment, cardiomyopathy, nephropathy and/or ocular deposition. The disease is thus associated with a high degree of patient disability. Accordingly, we aimed to describe the psychosocial burden associated with ATTRv in a group of patients, asymptomatic Val50Met carriers, relatives and caregivers in the endemic focus of the disease in Majorca via a survey addressing various aspects related to psychosocial burden. We performed a an observational, descriptive, cross-sectional and multicentre study in order to analyze the prevalence of self-reported impact of ATTRv disease upon their daily life. In addition to the self-knowledge, fear and burden related to the disease. The survey was disseminated during the regular follow up at the outpatient clinic of the Hospital Universitario Son Llàtzer and during the meetings organized by the Andrade's Disease patients' advocacy group from the Balearic Islands. These meetings were attended also by subjects followed up by the Hospital Universitario Son Espases and their caregivers and relatives. Survey was self-administrated. No intervention was done by the investigators. 85 subjects completed the survey: 61 carrying the TTR-V50M variant and 24 caregivers or relatives. RESULTS: Our study revealed that, although most of the population studied had had prior contact with ATTRv through affected relatives, there was still a lack of information regarding disease diagnosis. Fear of the genetic test result and psychological issues were common in our population. Moreover, the disease had a stronger impact on the daily life of our patients than that of our asymptomatic carriers. Autonomic symptoms were the main source of burden for relatives and caregivers. CONCLUSION: Our survey results show high psychosocial burden associated with Val50Met-ATTRv in our area.

Differential requirements for Tousled-like kinases 1 and 2 in mammalian development.

The regulation of chromatin structure is critical for a wide range of essential cellular processes. The Tousled-like kinases, TLK1 and TLK2, regulate ASF1, a histone H3/H4 chaperone, and likely other substrates, and their activity has been implicated in transcription, DNA replication, DNA repair, RNA interference, cell cycle progression, viral latency, chromosome segregation and mitosis. However, little is known about the functions of TLK activity in vivo or the relative functions of the highly similar TLK1 and TLK2 in any cell type. To begin to address this, we have generated Tlk1- and Tlk2-deficient mice. We found that while TLK1 was dispensable for murine viability, TLK2 loss led to late embryonic lethality because of placental failure. TLK2 was required for normal trophoblast differentiation and the phosphorylation of ASF1 was reduced in placentas lacking TLK2. Conditional bypass of the placental phenotype allowed the generation of apparently healthy Tlk2-deficient mice, while only the depletion of both TLK1 and TLK2 led to extensive genomic instability, indicating that both activities contribute to genome maintenance. Our data identifies a specific role for TLK2 in placental function during mammalian development and suggests that TLK1 and TLK2 have largely redundant roles in genome maintenance.

Relación entre búsqueda de sensaciones y la toma de decisiones pacientes con daño cerebral adquirido / Relation of sensation seeking and decision making in patients with acquired brain injury

Resumen En este trabajo se evaluó la influencia de la variable cognitiva "búsqueda de sensaciones" en la toma de decisiones en 73 pacientes con daño cerebral adquirido (DCA) a través de un estudio no experimental, transversal y correlacional, mediante la utilización de la Balloon Analogue Risk Task (BART) y la sub escala de búsqueda de sensaciones de la UPPS-P Como grupo control, se aplicaron las pruebas a 30 personas que cumplían con los criterios de inclusión y exclusión propuestos. Se utilizó la BART ya que permite una aplicación más rápida y ofrece una tarea de fácil ejecución y comprensión, que a diferencia de otros instrumentos no requiriere que la persona evaluada presente una capacidad de comprensión verbal compleja bien preservada. Además no existen estudios anteriores que correlacionen ambas pruebas. Como resultado se obtuvieron diferencias significativas entre el grupo clínico y el grupo control donde éste último mostró un nivel mayor de toma de riesgo en la BART y búsqueda de sensaciones en la sub escala UPPS-P. Tomando en cuenta la literatura revisada, los resultados obtenidos y la observación cualitativa del grupo clínico, podríamos sospechar que en la toma de decisionesse halla presente el componente de apatía, y motivación, pudiendo concluir que la búsqueda de sensaciones correlaciona positivamente con el desempeño y elaboración de la toma de decisiones.

Abstract In this paper was evaluated the influence of cognitive variable "sensation-seeking" in decision-making in 73 patients with acquired brain injury (ABI), by means of a non-experimental, cross-sectional and correlational study, through the Balloon Analogue Risk Task (BART) and sensation seeking sub scale of UPPS-P, as control group, test were applied to 30 healthy subjects who met the inclusion and exclusion criteria proposed. The BART is used because allows a faster application and offer a task of easy execution and understanding, unlike others instruments didn't require that evaluated person present a good preserved complex verbal comprehension capability. In addition, there not exist previous studies correlating both tests. As result significant differences between the clinical and the control group where the last one showed a higher level of risk taking in the BART and sensation seeking in the sub scale UPPS-P. Considering the literature reviewed the results and qualitative observation of clinical group. We might suspect that in decision-making is present the apathy and motivation component. Being able to conclude that sensation-seeking correlate positively with elaboration and performance of decision-making.

Combination treatment in the rehabilitación of visuospatial neglect / Tratamiento combinado en la rehabilitación de la negligencia visuo-espacial

BACKGROUND: Visuo-spatial neglect predicts longer hospitalization, poorer recovery of motor skills and greater functional limitation. The aim of the present study was to analyze whether the combined administration of computerized cognitive rehabilitation with right hemifield eye-patching in patients with left spatial neglect following a right hemisphere stroke is more effective than computerized cognitive rehabilitation applied in isolation. METHOD: Randomized clinical trial conducted in 28 patients. These were grouped into two experimental groups: single treatment group (ST) (n= 15) and combined treatment group (CT) (n= 13). All received an average of 15 one-hour sessions of computerized cognitive rehabilitation using the Guttmann, NeuroPersonalTrainer® telerehabilitation platform. Those patients in the TC group performed the sessions wearing a visual device with which the right hemifield of each eye was occluded. RESULTS: Following treatment, both the ST and the TC group showed improvements in neuropsychological examination protocol although there were no differences pre- and post-treatment on the functional scale in either group. Likewise, no statistically significant differences were observed in intergroup comparison. CONCLUSIONS: The results from this study indicate that combination treatment is not more effective than rehabilitation applied in isolation

ANTECEDENTES: la negligencia visuo-espacial predice mayor tiempo de hospitalización, peor recuperación de las habilidades motoras y limitaciones funcionales. El objetivo fue analizar si la administración combinada de rehabilitación cognitiva informatizada junto con el right hemifield eye patching, en participantes que presentan negligencia espacial izquierda como consecuencia de un ictus hemisférico derecho, es más eficaz que la rehabilitación cognitiva informatizada aplicada de forma aislada. MÉTODO: ensayo clínico aleatorizado realizado con 28 participantes. Dos grupos experimentales: grupo tratamiento único (TU) (n= 15) y grupo tratamiento combinado (TC) (n= 13). Todos ellos recibieron una media de 15 sesiones de rehabilitación cognitiva informatizada de una hora de duración mediante la plataforma de telerehabilitación Guttmann, NeuroPersonalTrainer®. Los participantes del grupo TC las ejecutaron con un dispositivo visual que llevaba el hemicampo derecho de cada ojo ocluido. RESULTADOS: tras el tratamiento, tanto el grupo TU como el TC mostraron mejoras en el protocolo de exploración neuropsicológica aunque no hubo diferencias pre- y post-tratamiento en la escala funcional en ninguno de los dos grupos. Asimismo, no se observaron diferencias estadísticamente significativas en la comparación intergrupal. CONCLUSIONES: los resultados derivados de este estudio indican que el tratamiento combinado no es más eficaz que la rehabilitación aplicada de forma aislada

Combination treatment in the rehabilitation of visuo-spatial neglect.

BACKGROUND: Visuo-spatial neglect predicts longer hospitalization, poorer recovery of motor skills and greater functional limitation. The aim of the present study was to analyze whether the combined administration of computerized cognitive rehabilitation with right hemifield eye-patching in patients with left spatial neglect following a right hemisphere stroke is more effective than computerized cognitive rehabilitation applied in isolation. METHOD: Randomized clinical trial conducted in 28 patients. These were grouped into two experimental groups: single treatment group (ST) (n= 15) and combined treatment group (CT) (n= 13). All received an average of 15 one-hour sessions of computerized cognitive rehabilitation using the Guttmann, NeuroPersonalTrainer® telerehabilitation platform. Those patients in the TC group performed the sessions wearing a visual device with which the right hemifield of each eye was occluded. RESULTS: Following treatment, both the ST and the TC group showed improvements in neuropsychological examination protocol although there were no differences pre- and post-treatment on the functional scale in either group. Likewise, no statistically significant differences were observed in intergroup comparison. CONCLUSIONS: The results from this study indicate that combination treatment is not more effective than rehabilitation applied in isolation.

GEMC1 is a critical regulator of multiciliated cell differentiation.

The generation of multiciliated cells (MCCs) is required for the proper function of many tissues, including the respiratory tract, brain, and germline. Defects in MCC development have been demonstrated to cause a subclass of mucociliary clearance disorders termed reduced generation of multiple motile cilia (RGMC). To date, only two genes, Multicilin (MCIDAS) and cyclin O (CCNO) have been identified in this disorder in humans. Here, we describe mice lacking GEMC1 (GMNC), a protein with a similar domain organization as Multicilin that has been implicated in DNA replication control. We have found that GEMC1-deficient mice are growth impaired, develop hydrocephaly with a high penetrance, and are infertile, due to defects in the formation of MCCs in the brain, respiratory tract, and germline. Our data demonstrate that GEMC1 is a critical regulator of MCC differentiation and a candidate gene for human RGMC or related disorders.

[What is hidden behind the Baking Tray Task? Study of sensibility and specificity in right-hemispheric stroke patients]. / Que se esconde tras el Baking Tray Task? Estudio de sensibilidad y especificidad en sujetos con ictus hemisferico derecho.

INTRODUCTION: Tham and Tegner proposed the Baking Tray Task (BTT) as a fast simple assessment test for detecting spatial negligence. However, very few studies have examined its validity as a diagnostic test. AIM: To analyse the diagnostic validity of the BTT by measuring its specificity and sensitivity in a sample of subjects with right hemisphere strokes. SUBJECTS AND METHODS: Forty-eight patients with right hemisphere vascular lesions were distributed in two groups (negligence group, n = 35; non-negligence group, n = 13) according to the scores obtained in a battery of visuospatial examination tests. The participants' performance on the BTT was compared with that of a healthy control group (n = 12). RESULTS: The results showed a high level of sensitivity of the BTT, but low specificity. The performance on the BTT of eight of the 13 members of the non-negligence group was suggestive of negligence. CONCLUSIONS: The BTT has proved to be a sensitive test for the detection of spatial negligence. Yet, based on its low specificity, its use alone as a single diagnostic test is not recommended.

TITLE: Que se esconde tras el Baking Tray Task? Estudio de sensibilidad y especificidad en sujetos con ictus hemisferico derecho.Introduccion. Tham y Tegner propusieron el Baking Tray Task (BTT) como una prueba de evaluacion rapida y simple para la deteccion de negligencia espacial. No obstante, apenas existen estudios que hayan examinado su validez como prueba diagnostica. Objetivo. Analizar la validez diagnostica del BTT, midiendo su especificidad y sensibilidad, en una muestra de sujetos con ictus hemisfericos derechos. Sujetos y metodos. Cuarenta y ocho pacientes con lesiones vasculares hemisfericas derechas distribuidos en dos grupos (grupo negligencia, n = 35; grupo no negligencia, n = 13) en funcion de las puntuaciones obtenidas en una bateria de exploracion visuoespacial. La ejecucion de los participantes en el BTT se comparo con un grupo control sano (n = 12). Resultados. Los resultados mostraron una alta sensibilidad del BTT, pero una baja especificidad. Ocho de los 13 integrantes del grupo no negligencia obtuvieron un rendimiento en el BTT sugestivo de negligencia. Conclusiones. El BTT se muestra como un test sensible para la deteccion de la negligencia espacial. Sin embargo, basandonos en su baja especificidad, no es recomendable su uso aislado como prueba unica de diagnostico.

¿Qué se esconde tras el Baking Tray Task? Estudio de sensibilidad y especificidad en sujetos con ictus hemisférico derecho / What is hidden behind the Baking Tray Task? Study of sensibility and specificity in right-hemispheric stroke patients

Introducción. Tham y Tegnér propusieron el Baking Tray Task (BTT) como una prueba de evaluación rápida y simple para la detección de negligencia espacial. No obstante, apenas existen estudios que hayan examinado su validez como prueba diagnóstica. Objetivo. Analizar la validez diagnóstica del BTT, midiendo su especificidad y sensibilidad, en una muestra de sujetos con ictus hemisféricos derechos. Sujetos y métodos. Cuarenta y ocho pacientes con lesiones vasculares hemisféricas derechas distribuidos en dos grupos (grupo negligencia, n = 35; grupo no negligencia, n = 13) en función de las puntuaciones obtenidas en una batería de exploración visuoespacial. La ejecución de los participantes en el BTT se comparó con un grupo control sano (n = 12). Resultados. Los resultados mostraron una alta sensibilidad del BTT, pero una baja especificidad. Ocho de los 13 integrantes del grupo no negligencia obtuvieron un rendimiento en el BTT sugestivo de negligencia. Conclusiones. El BTT se muestra como un test sensible para la detección de la negligencia espacial. Sin embargo, basándonos en su baja especificidad, no es recomendable su uso aislado como prueba única de diagnóstico (AU)

Introduction. Tham and Tegnér proposed the Baking Tray Task (BTT) as a fast simple assessment test for detecting spatial negligence. However, very few studies have examined its validity as a diagnostic test. Aim. To analyse the diagnostic validity of the BTT by measuring its specificity and sensitivity in a sample of subjects with right hemisphere strokes. Subjects and methods. Forty-eight patients with right hemisphere vascular lesions were distributed in two groups (negligence group, n = 35; non-negligence group, n = 13) according to the scores obtained in a battery of visuospatial examination tests. The participants’ performance on the BTT was compared with that of a healthy control group (n = 12). Results. The results showed a high level of sensitivity of the BTT, but low specificity. The performance on the BTT of eight of the 13 members of the non-negligence group was suggestive of negligence. Conclusions. The BTT has proved to be a sensitive test for the detection of spatial negligence. Yet, based on its low specificity, its use alone as a single diagnostic test is not recommended (AU)

Relación entre el funcionamiento ejecutivo y la conducta en niños con parálisis cerebral / Relationship between executive functioning and behaviour in children with cerebral palsy

Introducción. La parálisis cerebral se define como un grupo de trastornos del desarrollo del movimiento y la postura que cursa con déficits cognitivos, alteraciones emocionales, de conducta y sociales. Objetivo. Estudiar la relación entre el funcionamiento ejecutivo y la conducta en niños con parálisis cerebral a partir de las respuestas aportadas por padres y profesores en el Behavior Rating Inventory of Executive Function (BRIEF) y el sistema de evaluación de la conducta adaptativa (ABAS-II). Pacientes y métodos. La muestra quedó formada por 46 niños con parálisis cerebral, con una edad media de 10,26 ± 2,95 años. Del total, 44 niños se distribuyeron en el Gross Motor Function Classification System (GMFCS) en nivel I (n = 16), nivel II (n = 3), nivel III (n = 11), nivel IV (n = 10) y nivel V (n = 4). Resultados. Los resultados mostraron relación entre el BRIEF y el ABAS-II; además, se obtuvieron discrepancias entre las respuestas aportadas por padres y profesores, tanto en el ABAS-II como en el BRIEF. Asimismo, se halló relación entre el GMFCS y los subíndices de vida en el hogar, índice práctico y autocuidado del ABAS-II. Conclusiones. Se encontró relación entre el funcionamiento ejecutivo y la conducta adaptativa en niños con parálisis cerebral. Se hallaron discrepancias en las respuestas aportadas por padres y profesores. Por último, los datos muestran que, a mayor afectación motora, mayores dificultades en el hogar, en el índice práctico y en el autocuidado (AU)

Introduction. Cerebral palsy is defined as a group of developmental disorders of movement and posture that causes social and cognitive deficits, emotional, and behavior disturbances. Aim. To study the relationship between executive functioning and behavior in children with cerebral palsy from the answers given by parents and teachers on the Behavior Rating Inventory of Executive Function (BRIEF) and on the System Assessment Adaptive Behavior (ABAS-II). Patients and methods. The sample consisted on 46 children with CP with a mean age of 10.26 ± 2.95 years. Forty-four of the 46 children were distributed in Gross Motor Function Classification System (GMFCS) into level I (n = 16), level II (n = 3), level III (n = 11), level IV (n = 10) and level V (n = 4). Results. The results showed a relationship between BRIEF and ABAS-II. Furthermore, discrepancies between the responses from parents and teachers, both in the ABAS-II and in the BRIEF, were obtained. Conclusions. We found a significant relationship between executive functioning in children with cerebral palsy and adaptive behavior. We found discrepancies in the answers given by parents and teachers. Finally, the data showed that the higher motor impairment increases difficulties at home (AU)

Eficacia del tratamiento para la afasia de Wernicke en pacientes con sintomatología grave / Effective treatment for Wernicke's aphasia in patients with severe symptomatology

Introducción. La afasia es un trastorno del lenguaje que en la mayoría de los casos provoca una incapacidad para la comunicación, lo que implica un hándicap no solo para el paciente sino para el entorno familiar. La rehabilitación del paciente se considera, entonces, vital para suplir esta disfunción comunicativa. La terapia logopédica convencional es útil, pero en casos de afasias con graves alteraciones es lenta. Para subsanar este problema, en el ámbito de la afasia de Wernicke se desarrolló el «tratamiento para la afasia de Wernicke» (TAW), que se mostró efectivo en un conjunto específico de candidatos. Objetivo. Valorar el TAW en pacientes diagnosticados con afasia de Wernicke y que presentan una sintomatología grave, aunque no sean candidatos específicos al tratamiento original. Método. Se realizaron 12 sesiones del TAW con un paciente afectado por afasia de Wernicke y se comparó la actuación pre y postratamiento de este paciente con un grupo de pacientes con afasia de Wernicke (uno de ellos con igual etiología y localización) y otro grupo de pacientes con afasia sensorial transcortical (afasia de Wernicke tipo ii). Resultados. Los resultados muestran, en casi todos los ámbitos verbales analizados, una mejora mayor en el paciente que realizó el TAW respecto al resto de pacientes que siguieron una terapia logopédica convencional. Conclusiones. A partir de los resultados obtenidos se concluye que el TAW es un tratamiento terapéutico útil para toda clase de pacientes con afasia de Wernicke, y no solo para los candidatos propuestos en la rehabilitación inicial (AU)

Introduction. Aphasia is a language disorder which causes, in most cases, an inability to communicate, which implies a handicap not only for the patient but also for the family environment. Patient rehabilitation is considered vital to redress this communicative dysfunction. Conventional speech therapy is useful, but for cases of aphasia with severe disturbances it is too slow. To solve this problem, in the field of the Wernicke's aphasia was developed the Treatment for the Wernicke's aphasia (TWA), which it is showed effective in a specific set of candidates. Objective. To assess TWA in Wernicke's aphasia patients who had severe symptoms, although they were not candidates for the original conventional treatment. Method. 12 sessions of TWA were performed with a Wernicke's patient, and pre- and post-treatment results of the patient were compared with a group of Wernicke's patients (one with the same etiology and location) and with a group of transcortical sensory aphasia's patients (Wernicke aphasia type ii). Results. The results show, in almost all the analyzed verbal areas, a greater improvement in the patient who completed the TWA compared to patients who followed conventional speech therapy. Conclusions. From the results obtained in this study it can be concluded that the TWA is an useful therapeutic treatment for all classes of patients with Wernicke's aphasia, and not just for the candidates in initial rehabilitation (AU)

Déficits neuropsicológicos en la hemiplejía alternante infantil: estudio de un caso / Neuropsychological deficits in alternating hemiplegia of childhood: a case study

Introducción. La hemiplejía alternante infantil es un síndrome del neurodesarrollo de etiología incierta, caracterizado por la presencia de ataques transitorios de hemiplejía. Las características adicionales incluyen crisis epilépticas, distonía, anomalías motoras oculares y déficits en el funcionamiento cognitivo. Caso clínico. Niña de 7 años con hemiplejía alternante infantil. Los primeros síntomas comenzaron a los 17 meses en forma de debilidad en los miembros inferiores, migrañas, nistagmo y crisis hemipléjicas que alternaban ambos hemicuerpos. Se administró la escala de inteligencia de Wechsler para niños IV (WISC-IV) y el Conners Continuous Performance Test II (CPT-II), así como las escalas de Conners para padres (CPRS-48) y profesores (CTRS-28) y el Behavior Rating Inventory Executive Function (BRIEF). Conclusiones. En nuestro estudio encontramos déficits en atención sostenida, reducción de la velocidad de procesamiento de la información, y dificultades en la comprensión, expresión verbal y memoria de trabajo. Además, los padres y profesores comunicaron conductas problemáticas, y dificultades en la capacidad de inhibición, en el autocontrol y en la regulación de emociones. (AU)

Introduction. Alternating hemiplegic of childhood is a predominantly sporadic neurodevelopmental syndrome of uncertain etiology, characterized by alternating transient attacks of hemiplegia. Additional features include tonic fits, dystonic posturing, ocular motor abnormalities and deficits in cognitive functioning. Case report. A girl of 7 years-old with alternating hemiplegic of childhood. The first symptoms debut at 17 months of age in the form of lower limb weakness, migraine, nystagmus and hemiplegic crisis alternating both hemibodies. We administrate the Wechsler Intelligence Scale for Children IV (WISC-IV), the Conners Continuous Performance Test II (CPT-II), the Conners scales for parents (CPRS-48) and teachers (CTRS-28) and the Behavior Rating Inventory Executive Function (BRIEF). Conclusions. In our study we found deficits in sustained attention, reduced speed of information processing, and difficulties in understanding, speaking and working memory. In addition, parents and teachers reported behavioral disturbances, difficulties inhibition capability, in self-control and in regulating emotions (AU)

Influencia de la memoria de trabajo y la flexibilidad cognitiva en la ejecución de la tarea balloon analogue risk task / Influence of Working Memory and Cognitive Flexibility in Performance of the Balloon Analogue Risk task

Diversos estudios plantean la importancia que tienen las funciones ejecutivas como la flexibilidad cognitiva, la inhibición y la memoria de trabajo en la toma de decisiones. En este estudio se pretende valorar si la memoria de trabajo y la flexibilidad cognitiva, procesos cognitivos presentes en la toma de decisiones, pueden explicar las alteraciones en el rendimiento de los pacientes con daño cerebral adquirido (DCA) en la Balloon Analogue Risk Task (BART). A 73 pacientes con DCA se les administró la BART, el Trail Making Test (TMTB) y el Wisconsin Card Sorting Test (WCST), para valorar la flexibilidad cognitiva; y el subtest Letras y Números (LN) del WAIS-III para evaluar la memoria de trabajo. Los mismos test fueron administrados a un grupo control de 30 sujetos sin DCA. En el grupo clínico, las variables neuropsicológicas estudiadas incluidas para explicar la variación del BART$ fueron TMTB, p < .001, y WCST, p <.001. Observamos que únicamente la flexibilidad cognitiva valorada con WCST y TMTB pudo explicar las alteraciones en el rendimiento de los pacientes con DCA en la BART. Por tanto, es lógico pensar que si el rendimiento de la BART depende de la flexibilidad cognitiva de estos pacientes, entonces es de esperar que dicha capacidad sea un buen factor predictivo en la toma de decisiones.

A number of studies have raised the importance of certain executive functions such as attention, cognitive flexibility, response inhibition, and working memory in decision-making. The purpose of this study is to prove whether or not working memory and cognitive flexibility, capacities present in decision-making, can explain the changes in the performance of patients with acquired brain damage in Balloon Analogue Risk Task (BART). 73 patients with adult Acquired Brain Injury (ABI) were assessed with the BART, Trail Making Test B (TMTB), Wisconsin Card Sorting Test (WCST) to asses cognitive flexibility; and subtest Letter-Number (LN) of WAIS -III to asses working memory. The same test was administered to a control group of 30 subjects without ABI. In the clinical group, the only variables studied that were included to explain the variation in BART$ were TMTB, p < .001, and WCST, p < .001. We observe that changes in the performance of our patients with ABD in BART could only be explained by cognitive flexibility. Therefore we can conclude that performance in BART depends on the cognitive flexibility of these patients; therefore, it is to be expected that this capacity will be a good predictor of decision-making.

[Neuropsychological deficits in alternating hemiplegia of childhood: a case study]. / Deficits neuropsicologicos en la hemiplejia alternante infantil: estudio de un caso.

INTRODUCTION: Alternating hemiplegic of childhood is a predominantly sporadic neurodevelopmental syndrome of uncertain etiology, characterized by alternating transient attacks of hemiplegia. Additional features include tonic fits, dystonic posturing, ocular motor abnormalities and deficits in cognitive functioning. CASE REPORT: A girl of 7 years-old with alternating hemiplegic of childhood. The first symptoms debut at 17 months of age in the form of lower limb weakness, migraine, nystagmus and hemiplegic crisis alternating both hemibodies. We administrate the Wechsler Intelligence Scale for Children IV (WISC-IV), the Conners Continuous Performance Test II (CPT-II), the Conners scales for parents (CPRS-48) and teachers (CTRS-28) and the Behavior Rating Inventory Executive Function (BRIEF). CONCLUSIONS: In our study we found deficits in sustained attention, reduced speed of information processing, and difficulties in understanding, speaking and working memory. In addition, parents and teachers reported behavioral disturbances, difficulties inhibition capability, in self-control and in regulating emotions.

TITLE: Deficits neuropsicologicos en la hemiplejia alternante infantil: estudio de un caso.Introduccion. La hemiplejia alternante infantil es un sindrome del neurodesarrollo de etiologia incierta, caracterizado por la presencia de ataques transitorios de hemiplejia. Las caracteristicas adicionales incluyen crisis epilepticas, distonia, anomalias motoras oculares y deficits en el funcionamiento cognitivo. Caso clinico. Niña de 7 años con hemiplejia alternante infantil. Los primeros sintomas comenzaron a los 17 meses en forma de debilidad en los miembros inferiores, migrañas, nistagmo y crisis hemiplejicas que alternaban ambos hemicuerpos. Se administro la escala de inteligencia de Wechsler para niños IV (WISC-IV) y el Conners Continuous Performance Test II (CPT-II), asi como las escalas de Conners para padres (CPRS-48) y profesores (CTRS-28) y el Behavior Rating Inventory Executive Function (BRIEF). Conclusiones. En nuestro estudio encontramos deficits en atencion sostenida, reduccion de la velocidad de procesamiento de la informacion, y dificultades en la comprension, expresion verbal y memoria de trabajo. Ademas, los padres y profesores comunicaron conductas problematicas, y dificultades en la capacidad de inhibicion, en el autocontrol y en la regulacion de emociones.

Cognitive rehabilitation with right hemifield eye-patching for patients with sub-acute stroke and visuo-spatial neglect: a randomized controlled trial.

OBJECTIVE: To assess whether, following a right-hemisphere stroke, the combined administration of computer-based cognitive rehabilitation and right hemifield eye-patching in patients with visuo-spatial neglect is more effective than computer-based cognitive rehabilitation alone. METHODS: Twelve patients were randomized into two treatment groups: a single treatment group (n = 7) and a combination treatment group (n = 5). In both cases, the treatment consisted of a mean number of 15 sessions, each lasting 1 hour. Visuo-spatial neglect was assessed using a specific exploration protocol (Bell Cancellation Test, Figure Copying of Odgen, Line Bisection, Baking Tray Task and Reading Task). The functional effects of the treatment were assessed using the Catherine Bergego Scale. RESULTS: Significant between-group differences were observed when comparing the pre- and post-treatment scores for the Reading Task. No differences were observed in either group in the Catherine Bergego Scale administered at baseline and at the final intervention. CONCLUSION: The results obtained do not allow one to conclude that the combination treatment with cognitive rehabilitation and right hemifield eye-patching is more effective than cognitive rehabilitation alone. Although partial improvement in the performance of neuropsychological tests was observed, this improvement is not present at functional level.

Estimulación cognitiva en niños con parálisis cerebral / Cognitive stimulation in children with cerebral palsy

Introducción. La parálisis cerebral a menudo cursa con déficits cognitivos de atención, visuopercepción, funciones ejecutivas y memoria de trabajo. Objetivo. Analizar el efecto de un tratamiento de estimulación cognitiva sobre las capacidades cognitivas en niños con parálisis cerebral. Pacientes y métodos. Muestra de 15 niños con parálisis cerebral, con una edad media de 8,80 ± 2,51 años, clasificados mediante el Gross Motor Function Classification System (GMFCS) en nivel I (n = 6), nivel II (n = 4), nivel III (n = 2) y nivel V (n = 3). Los déficits cognitivos se evaluaron mediante la escala de inteligencia de Wechsler para niños (WISC-IV) y el Continuous Performance Test (CPT-II). Se administraron los cuestionarios para padres y profesores del Behavior Rating Inventory of Executive Function (BRIEF) y las escalas de evaluación de Conners (CPRS-48 y CTRS-28). Se realizó un programa de estimulación cognitiva dos horas semanales durante ocho semanas. Resultados. Se observaron diferencias estadísticamente significativas tras aplicar el tratamiento de estimulación cognitivo en el índice de razonamiento perceptivo de la WISC-IV. No se obtuvieron diferencias antes y después del tratamiento en las puntuaciones del Conners y del BRIEF. Tampoco se hallaron diferencias en los resultados de la WISC-IV en función del sexo ni en el GMFCS. Conclusión. El rendimiento cognitivo de los niños con parálisis cerebral mejora tras la aplicación de un programa de rehabilitación cognitiva (AU)

Introduction. Cerebral palsy is often accompanied by cognitive impairment affecting attention, visuoperception, executive functions and working memory. Aims. To analyse the effect of cognitive stimulation treatment on the cognitive capabilities in children with cerebral palsy. Patients and methods. Our sample consisted of 15 children with cerebral palsy, with a mean age of 8.80 ± 2.51 years, who were classified with the aid of the Gross Motor Function Classification System (GMFCS) on level I (n = 6), level II (n = 4), level III (n = 2) and level V (n = 3). Cognitive impairment was evaluated by means of the Wechsler Intelligence Scale for Children (WISC-IV) and the Continuous Performance Test (CPT-II). Both the questionnaires for parents and teachers from the Behavior Rating Inventory of Executive Function (BRIEF) and the Conners rating scales (CPRS-48 and CTRS-28) were administered. A cognitive stimulation programme was carried out at a rate of two hours a week for a total of eight weeks. Results. Statistically significant differences were observed after applying the cognitive stimulation treatment in the perceptive reasoning index of the WISC-IV. No differences were obtained on the Conners’ and the BRIEF scores before and after the treatment. Neither were any differences found in the results on the WISC-IV according to sex or on the GMFCS. Conclusions. The cognitive performance of children with cerebral palsy improves after applying a cognitive rehabilitation programme (AU)

Intelligent Therapy Assistant (ITA) for cognitive rehabilitation in patients with acquired brain injury.

BACKGROUND: This paper presents the design, development and first evaluation of an algorithm, named Intelligent Therapy Assistant (ITA), which automatically selects, configures and schedules rehabilitation tasks for patients with cognitive impairments after an episode of Acquired Brain Injury. The ITA is integrated in "Guttmann, Neuro Personal Trainer" (GNPT), a cognitive tele-rehabilitation platform that provides neuropsychological services. METHODS: The ITA selects those tasks that are more suitable for the specific needs of each patient, considering previous experiences, and improving the personalization of the treatment. The system applies data mining techniques to cluster the patients according their cognitive impairment profile. Then, the algorithm rates every rehabilitation task, based on its cognitive structure and the clinical impact of executions done by similar patients. Finally, it configures the most suitable degree of difficulty, depending on the impairment of the patient and his/her evolution during the treatment. RESULTS: The ITA has been evaluated during 18 months by 582 patients. In order to evaluate the effectiveness of the ITA, a comparison between the traditional manual planning procedure and the one presented in this paper has been done, taking into account: a) the selected tasks assigned to rehabilitation sessions; b) the difficulty level configured for the sessions; c) and the improvement of their cognitive capacities after completing treatment. CONCLUSIONS: The obtained results reveal that the rehabilitation treatment proposed by the ITA is as effective as the one performed manually by therapists, arising as a new powerful support tool for therapists. The obtained results make us conclude that the proposal done by the ITA is very close to the one done by therapists, so it is suitable for real treatments.

Neuropsicoterapia en la rehabilitación del daño cerebral / Neuropsychotherapy in brain injury rehabilitation

Introducción. Las personas que han sufrido lesiones cerebrales pueden experimentar un amplio abanico de alteraciones cognitivas, conductuales y emocionales. No obstante, la rehabilitación neuropsicológica acostumbra a centrarse, de manera casi exclusiva, en los déficits cognitivos y presta escasa atención a los retos emocionales asociados al impacto psicológico de la lesión. En esta faceta más personal del daño cerebral es donde la neuropsicoterapia puede ser de gran utilidad para facilitar el proceso de aceptación y adaptación después de una lesión neurológica. Desarrollo. En el presente artículo se describen los aspectos teóricos y conceptuales de la psicoterapia orientada a personas con daño cerebral, implicaciones de los déficits cognitivos en la práctica de la neuropsicoterapia y evidencias sobre su efectividad. Conclusiones. En el pasado se consideró que la neuropsicoterapia tenía escasa utilidad en la rehabilitación del daño cerebral. Hoy en día, cada vez son más los profesionales que reconocen su importancia en el abordaje del sufrimiento psicológico/ emocional asociado al daño cerebral. El objetivo de la rehabilitación neuropsicológica no es únicamente promover la recuperación de las funciones cerebrales alteradas, sino también mejorar la capacidad funcional del individuo, tratar con sus experiencias de pérdida y ayudarle a encontrar, de nuevo, sentido a la vida (AU)

Introduction. Persons who have suffered brain damage can experience a wide range of cognitive, behavioural and emotional disorders. However, neuropsychological rehabilitation usually focuses, almost exclusively, on the cognitive deficits and pays very little attention to the emotional challenges associated with the psychological impact of the lesion. It is in this more personal side of brain damage where neuropsychotherapy can be of great aid to facilitate the process of acceptance and adaptation following a neurological lesion. Development. In this article, we describe the theoretical and conceptual aspects of psychotherapy oriented towards persons with brain damage, the implications of cognitive deficits in the practice of neuropsychotherapy and the evidence regarding its effectiveness. Conclusions. In the past, neuropsychotherapy was considered to be of little use in the rehabilitation of brain damage. Today, however, a growing number of professionals are acknowledging its importance in the management of the psychological/emotional suffering associated with brain damage. The aim of neuropsychological rehabilitation is not just to promote the recovery of the altered brain functions, but also to improve the individual’s functional capacity, deal with his or her experiences of loss and help him or her to again find a meaning to life (AU)

[Neuropsychotherapy in brain injury rehabilitation]. / Neuropsicoterapia en la rehabilitación del daño cerebral.

INTRODUCTION: Persons who have suffered brain damage can experience a wide range of cognitive, behavioural and emotional disorders. However, neuropsychological rehabilitation usually focuses, almost exclusively, on the cognitive deficits and pays very little attention to the emotional challenges associated with the psychological impact of the lesion. It is in this more personal side of brain damage where neuropsychotherapy can be of great aid to facilitate the process of acceptance and adaptation following a neurological lesion. DEVELOPMENT: In this article, we describe the theoretical and conceptual aspects of psychotherapy oriented towards persons with brain damage, the implications of cognitive deficits in the practice of neuropsychotherapy and the evidence regarding its effectiveness. CONCLUSIONS: In the past, neuropsychotherapy was considered to be of little use in the rehabilitation of brain damage. Today, however, a growing number of professionals are acknowledging its importance in the management of the psychological/emotional suffering associated with brain damage. The aim of neuropsychological rehabilitation is not just to promote the recovery of the altered brain functions, but also to improve the individual's functional capacity, deal with his or her experiences of loss and help him or her to again find a meaning to life.

TITLE: Neuropsicoterapia en la rehabilitacion del daño cerebral.Introduccion. Las personas que han sufrido lesiones cerebrales pueden experimentar un amplio abanico de alteraciones cognitivas, conductuales y emocionales. No obstante, la rehabilitacion neuropsicologica acostumbra a centrarse, de manera casi exclusiva, en los deficits cognitivos y presta escasa atencion a los retos emocionales asociados al impacto psicologico de la lesion. En esta faceta mas personal del daño cerebral es donde la neuropsicoterapia puede ser de gran utilidad para facilitar el proceso de aceptacion y adaptacion despues de una lesion neurologica. Desarrollo. En el presente articulo se describen los aspectos teoricos y conceptuales de la psicoterapia orientada a personas con daño cerebral, implicaciones de los deficits cognitivos en la practica de la neuropsicoterapia y evidencias sobre su efectividad. Conclusiones. En el pasado se considero que la neuropsicoterapia tenia escasa utilidad en la rehabilitacion del daño cerebral. Hoy en dia, cada vez son mas los profesionales que reconocen su importancia en el abordaje del sufrimiento psicologico/emocional asociado al daño cerebral. El objetivo de la rehabilitacion neuropsicologica no es unicamente promover la recuperacion de las funciones cerebrales alteradas, sino tambien mejorar la capacidad funcional del individuo, tratar con sus experiencias de perdida y ayudarle a encontrar, de nuevo, sentido a la vida.