Verbal episodic memory in children undergoing temporal lobe epilepsy surgery: a one-year follow-up study. / Memoria episódica verbal en pacientes pediátricos intervenidos de cirugía de la epilepsia del lóbulo temporal: un estudio de seguimiento al año.

INTRODUCTION: Verbal episodic memory (VEM) is often unimpaired in children with focal epilepsy undergoing left temporal lobe resections, unlike what we might expect in the adult brain. The latter findings suggest that epileptiform activity in early life disrupts memory system lateralization, leading to the development of bilateral memory representation. The present study aims to analyze whether the laterality of epilepsy is a major predictor for post-operative VEM prognosis in pediatric temporal lobe epilepsy (TLE) surgery. This research also pretends to provide evidence about the relationship of VEM performance with other relevant demographical and clinical factors such as sex, age at onset of seizures, age at surgery and duration of epilepsy, as well as to study the impact of presurgical VEM performance on postsurgical outcomes. PATIENTS AND METHODS: Pre-operative and one-year follow-up post-operative word-list recall scores from 25 children who underwent TLE surgery (left-sided, n = 11; right-sided, n = 14) were extracted from the Hospital Sant Joan de Deu database and were retrospectively analyzed. RESULTS: No significant presurgical intergroup differences were found when comparing VEM scores by laterality of epilepsy (p > 0.5). Looking at the left TLE group, a high negative correlation was found between the onset age and the pre-operative long-term free recall score (rho = -0.72, p = 0.01). No significant pre- to post-operative intragroup changes were found regarding VEM performance, regardless of epilepsy laterality (left TLE group, p > 0.56; right TLE group, p > 0.12). CONCLUSIONS: The laterality of epilepsy does not show to be a significant factor in and of itself regarding presurgical VEM outcome and its prognosis one year after surgery, thus supporting the bilateral memory representation hypothesis. Furthermore, a younger age at onset of seizures seems to be related with a better pre-operative VEM performance, likely due to a more efficient reorganization of memory system induced by a greater brain plasticity at lower ages; however, this relationship has been only reported for the left-sided epilepsies in our sample.

TITLE: Memoria episódica verbal en pacientes pediátricos intervenidos de cirugía de la epilepsia del lóbulo temporal: un estudio de seguimiento al año.Introducción. La memoria episódica verbal (MEV) no suele resultar alterada en niños con epilepsia focal sometidos a resecciones del lóbulo temporal izquierdo, a diferencia de lo que cabría esperar si se tratara de un cerebro adulto. Los últimos hallazgos sugieren que la actividad epileptógena en los primeros años de vida disrumpe la lateralización del sistema mnésico, lo que conduce al desarrollo de una representación bilateral de la memoria. El presente estudio pretende analizar si la lateralidad de la epilepsia es un predictor significativo de cara al pronóstico posquirúrgico de la MEV en la cirugía de la epilepsia del lóbulo temporal (ELT) en edad pediátrica. Esta investigación también pretende aportar evidencias sobre la relación de la MEV con otros factores demográficos y clínicos relevantes, como el sexo, la edad de inicio de las crisis, la edad quirúrgica y la duración de la epilepsia, así como estudiar el impacto del rendimiento prequirúrgico en la MEV sobre los resultados posquirúrgicos. Pacientes y métodos. Se extrajeron de la base de datos del Hospital Sant Joan de Déu y se analizaron retrospectivamente las puntuaciones prequirúrgicas y al año de seguimiento postoperatorio de una tarea de recuerdo de lista de palabras correspondientes a 25 niños intervenidos de ELT (ELT izquierdo, n = 11; ELT derecho, n = 14). Resultados. No se encontraron diferencias intergrupales prequirúrgicas significativas al comparar las puntuaciones en MEV sobre la base de la lateralidad de la epilepsia (p > 0,5). En cuanto al grupo de ELT izquierdo, se encontró una alta correlación negativa entre la edad de inicio y la puntuación prequirúrgica del recuerdo libre a largo plazo (rho = ­0,72; p = 0,01). No se encontraron cambios intragrupo significativos entre el pre- y el postoperatorio en relación con el rendimiento en la MEV, independientemente de la lateralidad de la epilepsia (grupo de ELT izquierdo, p > 0,56; grupo de ELT derecho, p > 0,12). Conclusiones. La lateralidad de la epilepsia no parece ser un factor significativo por sí solo en relación con el rendimiento prequirúrgico en la MEV y su pronóstico un año después de la cirugía, lo que apoya la hipótesis de una representación bilateral de la memoria. Además, una edad más temprana al inicio de las crisis parece estar relacionada con un mejor resultado preoperatorio en la MEV, probablemente debido a una reorganización más eficiente del sistema de memoria inducida por una mayor plasticidad cerebral en edades más bajas; sin embargo, esta relación sólo se ha observado en nuestra muestra para las epilepsias de lateralidad izquierda.

Cognitive stimulation has potential for brain activation in individuals with Rett syndrome.

BACKGROUND: Knowledge regarding neuropsychological training in Rett syndrome (RS) is scarce. The aim of this study was to assess the outcome and the duration of the effect of cognitive stimulation on topographic electroencephalography (EEG) data in RS. METHODS: Twenty female children diagnosed with RS were included in the analysis. Girls with RS conducted a cognitive task using an eye-tracker designed to evaluate access and choice skills. EEG data were acquired during the experimental procedure including two 10-min baseline stages before and after the task. Topographical changes of several EEG spectral markers including absolute and relative powers, Brain Symmetry Index and entropy were assessed. RESULTS: Topographic significance probability maps suggested statistical decreases on delta activity and increases on beta rhythm associated with the cognitive task. Entropy increased during and after the task, likely related to more complex brain activity. A significant positive interaction was obtained between Brain Symmetry Index and age showing that the improvement of interhemispheric symmetry was higher in younger girls (5-10 years). CONCLUSIONS: According to our findings, significant alterations of brain rhythms were observed during and after cognitive stimulation, suggesting that cognitive stimulation may have effects on brain activity beyond the stimulation period. Finally, our promising results also showed an increase brain symmetry that was especially relevant for the younger group. This could suggest an interaction of the eye-tracking cognitive task; however, further studies in this field are needed to assess the relation between brain asymmetries and age.

[Prognostic factors and profile in traumatic brain injury in the paediatric age]. / Perfil y factores pronósticos en el traumatismo craneoencefálico en la edad pediátrica.

INTRODUCTION: Traumatic brain injury (TBI) is a common cause of death and disability in the paediatric population, although the literature on the Spanish population is scarce. From the perspective of early vulnerability, recent research findings suggest that early brain injury has worse sequelae and a higher risk of impact. AIMS: To analyse the intelligence profile, executive functions and behaviour, and examine the association between age at the time of the injury, severity of the TBI and environmental factors for cognitive and behavioural outcomes. PATIENTS AND METHODS: Seventy-one participants with moderate to severe TBI, from 6 to 16 years of age, were assessed with measures of intelligence (intelligence quotient), executive functions and behaviour. RESULTS: Children with TBI are at increased risk of disability in all aspects of intelligence, executive functions and behaviour. Children who suffered a traumatic brain injury in infancy and the preschool period had more overall effects on intelligence quotient and some aspects of the executive functions. CONCLUSIONS: Socioeconomic and cultural factors are the best predictors for intelligence quotient and behaviour. These findings contribute to a better understanding of the sequelae of TBI in children, which will help in rehabilitation planning and re-adaptation to functional life.

TITLE: Perfil y factores pronósticos en el traumatismo craneoencefálico en la edad pediátrica.Introducción. El traumatismo craneoencefálico (TCE) es una causa común de muerte y discapacidad en la población pediátrica, aunque la bibliografía en población española sea escasa. Desde la perspectiva de la vulnerabilidad temprana, los hallazgos de investigaciones recientes sugieren que la lesión cerebral temprana tiene peores secuelas y un mayor riesgo de impacto. Objetivos. Analizar el perfil de la inteligencia, las funciones ejecutivas y el comportamiento, y examinar la asociación de la edad a la lesión, la gravedad del TCE y los factores ambientales para los resultados cognitivos y conductuales. Pacientes y métodos. Setenta y un participantes con TCE moderado a grave, con edades entre 6 y 16 años, fueron evaluados con medidas de inteligencia (cociente intelectual), funciones ejecutivas y comportamiento. Resultados. Los niños con TCE tienen un mayor riesgo de discapacidad en todos los aspectos de inteligencia, funciones ejecutivas y comportamiento. Los niños que sufrieron una lesión cerebral traumática en la infancia y preescolar registraron más efectos globales en el cociente intelectual y algunos aspectos de las funciones ejecutivas. Conclusiones. Los factores socioeconómicos y culturales son los mejores predictores para el cociente intelectual y el comportamiento. Estos hallazgos contribuyen a una mejor comprensión de las secuelas de TCE en los niños para ayudar en la planificación de rehabilitación y la readaptación a la vida funcional.

Efficacy of a new parent and school-supported intervention after moderate and severe childhood traumatic brain injury. / Eficacia de una nueva intervencion de apoyo a padres y escuelas despues de un traumatismo craneoencefalico moderado o grave.

INTRODUCTION: Traumatic brain injury is a common cause of acquired disability during childhood. Early interventions focusing on parenting practices may prove effective at reducing negative child outcomes. AIM: To determine the efficacy of a new counselling program aimed at parents and schools compared to a control group. PATIENTS AND METHODS: The main study sample was obtained from a paediatric hospital. The final sample consisted of 42 children aged between 6 and 16 years old. RESULTS: Comparing with normative data, pre-post comparisons between groups showed a significant improvement in the parent group with respect to the control group. CONCLUSIONS: The superiority of the parental intervention group over those of the control group was not only statistically significant, but also clinically substantial and meaningful. The results of this study suggest that children with moderate to severe traumatic brain injury can benefit from an intensive supported family treatment.

TITLE: Eficacia de una nueva intervencion de apoyo a padres y escuelas despues de un traumatismo craneoencefalico moderado o grave.Introduccion. El traumatismo craneoencefalico es una causa habitual de discapacidad adquirida durante la infancia. Las intervenciones tempranas que se centran en la participacion de los padres pueden resultar efectivas para reducir las disfunciones del niño. Objetivo. Determinar la eficacia de un nuevo programa de asesoramiento dirigido a padres y escuelas en comparacion con un grupo control. Pacientes y metodos. La muestra principal del estudio se obtuvo de un hospital pediatrico. La muestra final consistio en 42 niños de 6 a 16 años. Resultados. Comparando con los datos normativos, las comparaciones pre y post intragrupos mostraron una mejora significativa en el grupo de intervencion parental con respecto al grupo control. Conclusiones. La superioridad del grupo de intervencion parental sobre el grupo control no solo fue estadisticamente significativa, sino tambien clinicamente sustancial y relevante. Los resultados del estudio sugieren que los niños con traumatismo craneoencefalico moderado o grave pueden beneficiarse de un tratamiento familiar intensivo de apoyo.

Pitch perception deficits in nonverbal learning disability.

The nonverbal learning disability (NLD) is a neurological dysfunction that affects cognitive functions predominantly related to the right hemisphere such as spatial and abstract reasoning. Previous evidence in healthy adults suggests that acoustic pitch (i.e., the relative difference in frequency between sounds) is, under certain conditions, encoded in specific areas of the right hemisphere that also encode the spatial elevation of external objects (e.g., high vs. low position). Taking this evidence into account, we explored the perception of pitch in preadolescents and adolescents with NLD and in a group of healthy participants matched by age, gender, musical knowledge and handedness. Participants performed four speeded tests: a stimulus detection test and three perceptual categorization tests based on colour, spatial position and pitch. Results revealed that both groups were equally fast at detecting visual targets and categorizing visual stimuli according to their colour. In contrast, the NLD group showed slower responses than the control group when categorizing space (direction of a visual object) and pitch (direction of a change in sound frequency). This pattern of results suggests the presence of a subtle deficit at judging pitch in NLD along with the traditionally-described difficulties in spatial processing.

Resultados de la colocación del estimulador del nervio vago en epilepsia y calidad de vida en un hospital pediátrico / Vagus nerve stimulator implantation for epilepsy in a paediatric hospital: outcomes and effect on quality of life

Introducción: La epilepsia es uno de los trastornos neurológicos más frecuentes de la infancia, presentándose en un 0,5-1%. Aproximadamente un 20-30% de los pacientes son farmacorresistentes. El objetivo de este trabajo es describir en 30 pacientes el impacto sobre las crisis y la calidad de vida del estimulador del nervio vago (ENV). Métodos: Se trata de un estudio descriptivo, retrospectivo, mediante revisión de las historias clínicas de todos los pacientes a quienes se les colocó el ENV entre el 2008 y 2013 en nuestro centro. La calidad de vida fue valorada mediante la escala de calidad de vida en el niño con epilepsia (CAVE), obtenida por medio de una entrevista telefónica. Resultados: Se incluyeron 19 niños (64%) y 11 niñas (36%) con una mediana de comienzo de las crisis de 21 meses (1-144 meses). La edad promedio de colocación del ENV fue de 11,89 años. El tiempo de seguimiento fue de 6-36 meses. A los 6 meses la reducción de las crisis en promedio fue del 38%, a los 12 meses del 43%, a los 24 meses del 42% y a los 36 meses del 54%. De todos los pacientes evaluados al menos un 50% se catalogaron como respondedores. Según la CAVE un 54% de las familias encontró el efecto del ENV como bueno o muy bueno y un 39% como regular. Conclusiones: El ENV es un tratamiento paliativo, generalmente bien tolerado, parcialmente efectivo para el control de la epilepsia refractaria en pediatría y con repercusiones positivas sobre la calidad de vida

Introduction: Epilepsy, which is present in 0.5% to 1% of the paediatric population, is one of the most frequent childhood neurological disorders. Approximately 20% to 30% of these cases will be drug-resistant. The objective of this study is to describe the impact of vagal nerve stimulation (VNS) on seizures and quality of life in a sample of 30 patients. Methods: Descriptive, retrospective study of all patients with a VNS device implanted between 2008 and 2013 in a single paediatric hospital, based on patients’ medical records. Quality of life was assessed using the Spanish scale for quality of life in children with epilepsy, completed by means of a telephone interview. Results: We describe a population of 19 boys (64%) and 11 girls (36%) with a mean age at seizure onset of 21 months (1-144 months). The mean age of VNS implantation was 11.89 years. Follow-up periods ranged from 6 to 36 months. Mean reduction in seizures at 6 months was 38%, with a reduction of 43% at 12 months, 42% at 24 months, and 54% at 36 months. At least half of all patients were classified as responders. According to the quality of life scale, 54% of the families rated the effect of VNS as either very good or good while 39% rated it as fair. Conclusions: VNS is a safe palliative treatment that is generally well tolerated. It is partially effective for controlling drug-resistant epilepsy and exerts a positive effect on quality of life

Vagus nerve stimulator implantation for epilepsy in a paediatric hospital: outcomes and effect on quality of life.

INTRODUCTION: Epilepsy, which is present in 0.5% to 1% of the paediatric population, is one of the most frequent childhood neurological disorders. Approximately 20% to 30% of these cases will be drug-resistant. The objective of this study is to describe the impact of vagal nerve stimulation (VNS) on seizures and quality of life in a sample of 30 patients. METHODS: Descriptive, retrospective study of all patients with a VNS device implanted between 2008 and 2013 in a single paediatric hospital, based on patients' medical records. Quality of life was assessed using the Spanish scale for quality of life in children with epilepsy, completed by means of a telephone interview. RESULTS: We describe a population of 19 boys (64%) and 11 girls (36%) with a mean age at seizure onset of 21 months (1-144 months). The mean age of VNS implantation was 11.89 years. Follow-up periods ranged from 6 to 36 months. Mean reduction in seizures at 6 months was 38%, with a reduction of 43% at 12 months, 42% at 24 months, and 54% at 36 months. At least half of all patients were classified as responders. According to the quality of life scale, 54% of the families rated the effect of VNS as either very good or good while 39% rated it as fair. CONCLUSIONS: VNS is a safe palliative treatment that is generally well tolerated. It is partially effective for controlling drug-resistant epilepsy and exerts a positive effect on quality of life.

Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency.

BACKGROUND: CblC deficiency produces a combination of methylmalonic aciduria (MMA) and homocystinuria (HCU), and is the most common error of cobalamin metabolism. Patients present a wide spectrum of symptoms, ranging from early severe multisystemic forms, to milder late-onset phenotypes. Cognitive and visual impairment are nearly constant. Hydroxocobalamin (OHCbl), betaine, folinic acid, levocarnitine and eventually dietary protein restriction are the main therapeutic approaches. Although early introduction of OHCbl is crucial, no standardized protocols regarding dose adaptation exist. No reports on long-term outcomes after high doses of this vitamin have been published. METHODS: In this study five patients with CblC deficiency (early severe forms) were treated with high doses of OHCbl for 18 to 30months. Clinical examinations, neurological assessment, and biochemical studies (plasma total homocysteine (tHcy), amino acids, hydroxocobalamin, and methylmalonic acid in urine) were periodically performed. RESULTS: Variable clinical and biochemical outcomes were observed in patients treated with high doses of OHCbl. The best biochemical response was observed in those children with the worse metabolic control. By contrast, those patients with a concentration of tHcy around 50µmol/l or less showed only minor changes. Clinically, a considerable improvement was observed in those patients with severe problems in communication, expressive language and behavior. CONCLUSIONS: According to our study, high OHCbl doses in CblC deficiency could have a greater benefit in those children with a prior history of suboptimal metabolic control, and also in those with severe neurological phenotypes. More specifically, we observed improvements in communication skills and behavior. These results should encourage further prospective trials to determine the optimal OHCbl regimen and to generate protocols and guidelines in this rare disorder.

Perfil neuropsicológico de niños adoptados internacionalmente en Cataluña / Neuropsychological profile of internationally adopted children in Catalonia

Introducción: En los últimos años la adopción internacional ha aumentado considerablemente en nuestro país. China, Federación Rusa, Colombia y Etiopía suponen el 77% del total de las adopciones internacionales en España. Los aspectos cognitivos y conductuales son un factor muy importante para la adecuada adaptación social, familiar y escolar de estos niños. Objetivo: Describir los perfiles neuropsicológicos de un grupo de niños adoptados internacionalmente en Cataluña procedentes de China, Rusia, Colombia y Etiopía. Pacientes y métodos: Exploración neuropsicológica de 49 niños procedentes de adopción internacional (6 de origen chino, 24 de origen ruso, 13 de origen colombiano y 6 de origen etíope). Resultados: El grupo de origen chino muestra normalidad en todas las funciones evaluadas. El grupo de origen ruso presenta alteración en atención selectiva, fluencia verbal fonética, control de la impulsividad, mecánica y comprensión lectora y ortografía. El grupo de origen colombiano presenta alteración en el control de la impulsividad. El grupo de origen etíope muestra normalidad en todas las funciones evaluadas exceptuando un bajo dominio ortográfico. Conclusión: Los niños adoptados procedentes de Rusia presentan mayores dificultades neuropsicológicas que el resto. La mayoría de antecedentes previos a la adopción se desconocen, por lo que no podemos justificar el origen de estas dificultades. Algunas hipótesis relacionan el consumo materno de alcohol durante la gestación y la estancia en instituciones como posibles factores influyentes. Recomendamos la inclusión de valoraciones neuropsicológicas en los protocolos de salud de estos niños en caso de presentar signos sugestivos de trastorno cognitivo y/o conductual (AU)

Introduction: During the last years, International adoption has increased significantly in our country over the last few years. China, Russia, Colombia and Ethiopia represent 77% of international adoptions in Spain. Cognitive and behavioural aspects are very important for an adequate social, family and school integration of these children. Objective: To describe the neuropsychological profiles of a group of internationally adopted children in Catalonia from China, Russia, Colombia and Ethiopia.Patients and methods: Neuropsychological examination of 49 children from international adoption (6 of Chinese origin, 24 from Russia, 13 from Colombia and 6 of Ethiopian origin). Results: The group of Chinese origin obtained average scores of all functions evaluated. The Russian origin group was below the average for, selective attention, phonetic verbal fluency, control of impulsivity, mechanics and reading comprehension, and spelling. Scores on the impulse controlin the Colombian origin group were below average. The group of Ethiopian origin obtained average scores in all functions evaluated except for spelling difficulties. Conclusion: Children adopted from Russia have greater neuropsychological difficulties than the others. Most pre-adoption history is unknown; therefore we are unable to determine the origin of these difficulties. Maternal alcohol consumption during pregnancy and the institutional environment could be influencing factors in neuropsychological delay. Inclusion of neuropsychological assessment in health protocols for these children is recommended if they develop suggestive signs of cognitive and/or behavioral impairment (AU)

[Neuropsychological profile of internationally adopted children in Catalonia]. / Perfil neuropsicológico de niños adoptados internacionalmente en Cataluña.

INTRODUCTION: During the last years, International adoption has increased significantly in our country over the last few years. China, Russia, Colombia and Ethiopia represent 77% of international adoptions in Spain. Cognitive and behavioural aspects are very important for an adequate social, family and school integration of these children. OBJECTIVE: To describe the neuropsychological profiles of a group of internationally adopted children in Catalonia from China, Russia, Colombia and Ethiopia. PATIENTS AND METHODS: Neuropsychological examination of 49 children from international adoption (6 of Chinese origin, 24 from Russia, 13 from Colombia and 6 of Ethiopian origin). RESULTS: The group of Chinese origin obtained average scores of all functions evaluated. The Russian origin group was below the average for, selective attention, phonetic verbal fluency, control of impulsivity, mechanics and reading comprehension, and spelling. Scores on the impulse control in the Colombian origin group were below average. The group of Ethiopian origin obtained average scores in all functions evaluated except for spelling difficulties. CONCLUSION: Children adopted from Russia have greater neuropsychological difficulties than the others. Most pre-adoption history is unknown; therefore we are unable to determine the origin of these difficulties. Maternal alcohol consumption during pregnancy and the institutional environment could be influencing factors in neuropsychological delay. Inclusion of neuropsychological assessment in health protocols for these children is recommended if they develop suggestive signs of cognitive and/or behavioral impairment.

[Predictive variables for mental retardation in a Pediatric Epilepsy Monitoring Unit. Neuropsychological assessment]. / Variables predictoras de retraso mental en una unidad de monitorización videoelectroencefalográfica pediátrica. Evaluación neuropsicológica.

AIM: We sought to describe the epidemiological and clinical data from our patients in the Pediatric Epilepsy Monitoring Unit (PEMU) of the Sant Joan de Deu Hospital of Barcelona, and determine the variables of risk for mental retardation. PATIENTS AND METHODS: A retrospective review of PEMU reports and hospital discharge summaries from March 2005 to December 2008 was conducted. The data from patients with intelligence quotient (IQ) estimated, older than 3 years of age and with epileptic electroencephalography (EEG) activity was analyzed in 158 patients (8.8 +/- 5.2 years; 55.1% boys). Of those pediatric patients, 63 had IQ less than 70 and 47 an IQ greater than or equal to 70. Intractable epilepsy was present in all of them. RESULTS: The percentage of the patients with mental retardation is significantly higher in patients with onset of epilepsy before 24 months (68.3%) than patients with later onset (27.7%). Onset of seizures, EEG findings and epilepsy etiology are significant risk factors for mental retardation. CONCLUSIONS: Early age at seizure, multifocal epilepsy and cryptogenic etiology are factors of worse prognosis to normal development of cognitive functions in pediatric intractable epilepsy.

Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency.

Creatine transporter (CRTR) deficiency is one of the most frequent causes of X-linked mental retardation. The lack of an effective treatment for this disease, in contrast to creatine (Cr) biosynthesis disorders that respond to Cr monohydrate (CM), led us to analyze the efficacy of a lipophilic molecule derived from Cr, creatine ethyl ester (CEE), in fibroblasts and patients with CRTR deficiency. CM and CEE uptake studies were performed in six controls and four fibroblast cell lines from patients. We found a significant increase in Cr uptake after 72 h of incubation with CEE (500 micromol/L) in patients and control fibroblasts compared to incubation with CM. Subsequently, we assayed the clinical effect of CEE administration in four patients with CRTR deficiency. After 1 year of treatment, a lack of significant improvement in neuropsychological assessment or changes in Cr level in brain (1)H MRS was observed, and CEE was discontinued. In conclusion, this 12-month trial with CEE did not increase the brain concentration of Cr. Our in vitro data lend support to the idea of a certain passive transport of CEE in both pathological and control cells, although more lipophilic molecules or other cell systems that mimic the BBB should be used for a better approach to the in vivo system.

[Neuropsychological aspects of acquired diffuse brain injury in paediatric childhood]. / Aspectos neuropsicológicos del daño cerebral difuso adquirido en la edad pediátrica.

INTRODUCTION AND DEVELOPMENT: Acquired brain injury is one of the most common causes of long-term disability in childhood and traumatisms are the most prevalent cause. Diffuse axonal injury is associated with poor neuropsychological outcome. In contrast to early focal lesions, young age confers no advantage in the outcome of severe diffuse brain injury. Plasticity is incomplete for structural and functional deficits in children. The traditional view of enhanced reorganization of function after localized brain injury it can't be applied in early severe diffuse brain injury. In the paediatric population where the central nervous system is in a rapid state of growth, developmental factors may mask the difficulties and deficits in certain skills may not be evident until that skill is expected to emerge at a certain age. CONCLUSION: Like in adults the neuropsychological domains more affected in childhood are psychomotor speed, memory, attention and executive functioning. In childhood neuropsychological deficits will affect learning and adaptive behaviour. Sometimes deficits will be cumulative over time.

[Non-verbal learning disorder: cognitive-behavioural characteristics and neuropsychological aspects]. / Trastorno de aprendizaje no verbal: características cognitivo-conductuales y aspectos neuropsicológicos.

INTRODUCTION AND DEVELOPMENT: Non verbal learning disorder is a neurological condition which is considered to be a developmental disability. It is characterised by a specific dysfunction in motor, visuospatial and social skills in patients with a normal intellect and development of language. Warning signs in school are poor psychomotor coordination, arithmetic skills and drawing activities. Social judgment and social problem solving are also typically impaired. Furthermore, these patients seem to have increasing risk of emotional disorders. CONCLUSIONS: Current evidence and theories suggest that dysfunction of white matter in the right hemisphere could be the cause. The clinical characteristics and the diagnostic criteria have not fully agreed on. A comprehensive neuropsychological evaluation reveals specific and heterogeneous patterns of difficulties for each child that would make possible to address and accommodate an educational program.

Aspectos neuropsicológicos del daño cerebral difuso adquirido en la edad pediátrica / Neuropsychological aspects of acquired iffuse brain injury in paediatric childhood

Introducción y desarrollo. El daño cerebral adquirido (DCA) es causa de discapacidad en la edad pediátrica. El traumatismo craneoencefálico grave constituye la causa más frecuente de DCA. El pronóstico vital del DCA es más favorable en el niño que en el adulto. No sucede así con el pronóstico neuropsicológico, que es más desfavorable cuanto menor es la edad en el momento de producirse la lesión. En el daño cerebral difuso la plasticidad y capacidad de reorganización cerebral tienen un efecto limitado en la compensación de los déficit cognitivos y conductuales. Debido al proceso de desarrollo del sistema nervioso del niño, la repercusión del DCA puede tardar años en ser evidente. Las demandas crecientes en la escuela, de autonomía y de adaptación social, harán que las dificultades puedan ser progresivas con la edad. Conclusión. Las funciones neuropsicológicas más afectadas, igual que en la edad adulta, son la velocidad psicomotora, memoria, funciones ejecutivas y atencionales. El proceso de desarrollo y aprendizaje del niño hará que la repercusión sea mucho mayor (AU)

Introduction and development. Acquired brain injury is one of the most common causes of long-term disability in childhood and traumatisms are the most prevalent cause. Diffuse axonal injury is associated with poor neuropsychological outcome. In contrast to early focal lesions, young age confers no advantage in the outcome of severe diffuse brain injury. Plasticity is incomplete for structural and functional deficits in children. The traditional view of enhanced reorganization of function after localized brain injury it can’t be applied in early severe diffuse brain injury. In the paediatric population where the central nervous system is in a rapid state of growth, developmental factors may mask the difficulties and deficits in certain skills may not be evident until that skill is expected to emerge at a certain age. Conclusion. Like in adults the neuropsychological domains more affected in childhood are psychomotor speed, memory, attention and executive functioning. Inchildhood neuropsychological deficits will affect learning and adaptive behaviour. Sometimes deficits will be cumulative over time (AU)

Trastorno de aprendizaje no verbal: características cognitivo-conductuales y aspectos neuropsicológicos / Non-Verbal learning disorder: Cognitive behavioural characteristics and neuropsychological aspects

Introducción y desarrollo. El trastorno de aprendizaje no verbal es un trastorno de base neurobiológica que se caracteriza por una disfunción específica en habilidades motrices y visuoespaciales/visuoconstructivas y por dificultades en las relaciones sociales, en pacientes con una inteligencia general y habilidades lingüísticas preservadas. En la escuela, los niños afectados presentan alteraciones en la psicomotricidad y en tareas de dibujo, plástica y cálculo. Con frecuencia se asocian dificultades en la relación social (percepción social, juicio y habilidades de interacción social) y existe una predisposición a padecer problemas emocionales. Conclusiones. Fisiopatológicamente se ha relacionado con una disfunción hemisférica cerebral derecha en la sustancia blanca. Las características clínicas y los criterios diagnósticos no están totalmente definidos. La exploración neuropsicológica pone de manifiesto perfiles clínicos diferentes. Es importante una temprana identificación para poner en marcha las estrategias educativas adecuadas en cada caso (AU)

Introduction and development. Non verbal learning disorder is a neurological condition which is considered to be a developmental disability. It is characterised by a specific dysfunction in motor, visuospatial and social skills in patients with a normal intellect and development of language. Warning signs in school are poor psychomotor coordination, arithmetic skills and drawing activities. Social judgment and social problem solving are also typically impaired. Furthermore, these patients seem to have increasing risk of emotional disorders. Conclusions. Current evidence and theories suggest that dysfunction of white matter in the right hemisphere could be the cause. The clinical characteristics and the diagnostic criteria have not fully agreed on. A comprehensive neuropsychological evaluation reveals specific and heterogeneous patterns of difficulties for each child that would make possible to address and accommodate an educational program (AU)

Arginine supplementation in four patients with X-linked creatine transporter defect.

BACKGROUND: Treatment with oral creatine monohydrate has not shown efficacy in patients with creatine transporter deficiency (CRTR-D). Another therapeutic option proposed is L-arginine, the substrate for the enzyme L-arginine:glycine amidinotransferase (AGAT). We evaluate clinical characteristics and cerebral creatine replenishment after L-arginine therapy in four patients with CRTR-D. PATIENTS AND METHODS: Four boys with genetically confirmed diagnosis of CRTR-D (ages 9-16 years) were supplemented with L-arginine (0.4 g/kg per day) for a period of 9 months. Treatment efficacy was evaluated by clinical and neuropsychological assessment and determination of creatine signals by brain proton magnetic resonance spectroscopy ((1)H-MRS). RESULTS: Epileptic seizures remained well controlled with antiepileptic drugs in three cases, both before and after L-arginine supplementation. Vineland Adaptive Behaviour Scale did not show any change in communication, daily living skills, socialization or motor skills, and a lack of improvement in brain (1)H-MRS follow-up was observed. L-Arginine was discontinued at the end of the observation period. CONCLUSIONS: Nine months of L-arginine supplementation did not show effectiveness in the four patients affected with CRTR-D in this protocol.

[Visuo-constructive disorders in periventricular leukomalacia]. / Trastornos visuoconstructivos en la leucomalacia periventricular.

INTRODUCTION: Cerebral palsy involves not only motor impairment but also the impairment of cognitive functions. Visuo spatial impairment has often been reported in preterm children with spastic diplegia due to periventricular leukomalacia. PATIENTS AND METHODS: Eight children with periventricular leukomalacia diagnosis. When examined their ages were between 3 and 13 years. RESULTS: We found visuo spatial anomalies in all subjects. These anomalies don't result in reading and writing learning difficulties. CONCLUSION: Constructional dyspraxia is frequently found in children with periventricular leukomalacia and correlates with reduction of peritrigonal white matter in parietal lobe.