Spectroscopic Evidence of Kondo-Induced Quasiquartet in CeRh_{2}As_{2}.

CeRh_{2}As_{2} is a new multiphase superconductor with strong suggestions for an additional itinerant multipolar ordered phase. The modeling of the low-temperature properties of this heavy-fermion compound requires a quartet Ce^{3+} crystal-field ground state. Here, we provide the evidence for the formation of such a quartet state using x-ray spectroscopy. Core-level photoelectron and x-ray absorption spectroscopy confirm the presence of Kondo hybridization in CeRh_{2}As_{2}. The temperature dependence of the linear dichroism unambiguously reveals the impact of Kondo physics for coupling the Kramer's doublets into an effective quasiquartet. Nonresonant inelastic x-ray scattering data find that the |Γ_{7}^{-}⟩ state with its lobes along the 110 direction of the tetragonal structure (xy orientation) contributes most to the multiorbital ground state of CeRh_{2}As_{2}.

Al-Pt intermetallic compounds: HAXPES study.

Intermetallic compounds in the Al-Pt system were systematically studied via hard X-ray photoelectron spectroscopy, focusing on the positions of Pt 4f and Al 2s core levels and valence band features. On one hand, with increasing Al content, the Pt 4f core levels shift towards higher binding energies (BE), revealing the influence of the atomic interactions (chemical bonding) on the electronic state of Pt. On the other hand, the charge transfer from Al to Pt increases with increasing Al content in Al-Pt compounds. These two facts cannot be combined using the standard "chemical shift" approach. Computational analysis reveals that higher negative effective charges of Pt atoms are accompanied by reduced occupancy of Pt 5d orbitals, leading to the limited availability of these electrons for the screening of the 4f core hole and this in turn explains the experimentally observed shift of 4f core levels to higher BE.

Functional connectivity alterations associated with literacy difficulties in early readers.

The link between literacy difficulties and brain alterations has been described in depth. Resting-state fMRI (rs-fMRI) has been successfully applied to the study of intrinsic functional connectivity (iFc) both in dyslexia and typically developing children. Most related studies have focused on the stages from late childhood into adulthood using a seed to voxel approach. Our study analyzes iFc in an early childhood sample using the multivariate pattern analysis. This facilitates a hypothesis-free analysis and the possible identification of abnormal functional connectivity patterns at a whole brain level. Thirty-four children with literacy difficulties (LD) (7.1 ± 0.69 yr.) and 30 typically developing children (TD) (7.43 ± 0.52 yr.) were selected. Functional brain connectivity was measured using an rs-fMRI acquisition. The LD group showed a higher iFc between the right middle frontal gyrus (rMFG) and the default mode network (DMN) regions, and a lower iFc between the rMFG and both the bilateral insular cortex and the supramarginal gyrus. These results are interpreted as a DMN on/off routine malfunction in the LD group, which suggests an alteration of the task control network regulating DMN activity. In the LD group, the posterior cingulate cortex also showed a lower iFc with both the middle temporal poles and the fusiform gyrus. This could be interpreted as a failure in the integration of information between brain regions that facilitate reading. Our results show that children with literacy difficulties have an altered functional connectivity in their reading and attentional networks at the beginning of the literacy acquisition. Future studies should evaluate whether or not these alterations could indicate a risk of developing dyslexia.

Teràpies visuals I noves teràpies. Paper del pediatre d'atenció primària / No disponible

No disponible

Perfil y factores pronósticos en el traumatismo craneoencefálico en la edad pediátrica / Prognostic factors and profi le in traumatic brain injury in the paediatric age

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

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 fi ndings suggest that early brain injury has worse sequelae and a higher risk of impact. Aims. To analyse the intelligence profi le, 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 suff ered a traumatic brain injury in infancy and the preschool period had more overall eff ects 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

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

Introducción. El traumatismo craneoencefálico es una causa habitual de discapacidad adquirida durante la infancia. Las intervenciones tempranas que se centran en la participación 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 comparación con un grupo control. Pacientes y métodos. La muestra principal del estudio se obtuvo de un hospital pediátrico. La muestra final consistió 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 intervención parental con respecto al grupo control. Conclusiones. La superioridad del grupo de intervención parental sobre el grupo control no sólo fue estadísticamente significativa, sino también clínicamente sustancial y relevante. Los resultados del estudio sugieren que los niños con traumatismo craneoencefálico moderado o grave pueden beneficiarse de un tratamiento familiar intensivo de apoyo

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

Gender differences in cancer risk after kidney transplantation.

Kidney transplant (KT) recipients are at greater risk of developing some cancers than the general population. Moreover, cancer is the only cause of death that is currently increasing after kidney transplantation. We analyzed incidence, risk factors and characteristics of post-transplant malignancies (solid organ tumors and lymphoproliferative disorders) at our center in 925 KT recipients (1979-2014). Sex differences were particularly assessed. One hundred and eight patients (11.7%) developed solid organ tumors (76.9%) or lymphoma (23.1%). Twenty-one percent of patients who reached 20 years after KT developed cancer, with a median post-KT time to diagnosis of 7.4 years. Most common solid organs affected were lung (30.1%), prostate (10.8%), bladder (9.6%), and native kidney (7.2%). When analyzing standardized incidence ratios (SIR) by gender compared to the general population, relative risk was increased in women (SIR = 1.81; 95%CI, 1.28-2.45) but not significantly increased in men (SIR = 1.22; 0.95-2.52). Regarding specific types, gynecological (SIR = 11.6; 4.2-22.7) and lung (SIR = 10.0; 4.3-18.2) in women, and bladder (SIR = 16.3; 5.9-32.1) in men were the most affected locations. Thymoglobulin, a polyclonal antibody that has been used as an immunosuppressive agent in kidney transplantation over the last decades, was a significant risk factor for developing cancer in adjusted regression analysis [IRR = 1.62, 1.02-2.57; p = 0.041], and was associated with lower patient survival. Compared with the general population, the incidence of post-KT non-skin cancer is almost two-fold higher in women but not significantly higher in men. Lung is the most common solid organ affected. Thymoglobulin induction therapy is associated with a greater risk.

Estado actual del enfoque del trastorno por déficit de atención/hiperactividad en neuropediatría / Current state of the attention deficit hyperactivity disorder approach in neuropediatrics

Objetivo. Conocer el estado actual del enfoque del trastorno por déficit de atención/hiperactividad (TDAH) entre los neuropediatras. Sujetos y métodos. Se realizó una encuesta telemática que recogía información preliminar sobre el interés, las dificultades en el manejo y el tratamiento del TDAH a los 437 socios de la Sociedad Española de Neurología Pediátrica. Resultados. Respondió un 32,49% de los cuestionarios enviados, con una importante variabilidad geográfica. El 97,89% afirmó que el 50% de sus consultas eran niños con trastornos de aprendizaje y TDAH. Respecto a quién iniciaba el tratamiento para el TDAH en su área, la mayoría contestó que el neuropediatra (57,97%), seguido del psiquiatra infantil (34,78%) y del pediatra de atención primaria (5,31%). Respecto a las mayores dificultades para la valoración inicial de los niños con sospecha de TDAH, se citaron la falta de un estudio psicopedagógico por parte de la escuela (49,79%), seguido de la falta de tiempo en la consulta (29,11%). Sobre las dificultades en el seguimiento, la mayor queja se produjo por la falta de coordinación entre los profesionales, la escuela y los padres. Respecto a la medicación, la mayoría de los pacientes se encontraba en tratamiento con algún tipo de metilfenidato de liberación prolongada, un porcentaje estable utilizaba metilfenidato de liberación inmediata como tratamiento único o combinado, y se observó en un rango inferior el uso de clonidina y atomoxetina, y un incipiente uso de lisdexanfetamina. La adhesión al tratamiento farmacológico al año fue alrededor del 80%. Conclusiones. Es necesario avanzar en la capacitación y educación continua de nuestros especialistas neuropediátricos en el manejo del TDAH, y en homogeneizar la práctica clínica y la coordinación con educación en el territorio español (AU)

Aim. To know the current state of the approach of attention deficit hyperactivity disorder (ADHD) in neuropediatricians. Subjects and methods. A telematic survey was carried out to collect preliminary information on the interest, difficulties in the management and treatment of ADHD to the 437 fellowship of the Neuropediactric Spanish Society (SENEP). Results. Only 32.49% of the sent questionnaires were answered, with important geographic variability. 97.89% stated that 50% of their consultations were children with learning disabilities and ADHD. Regarding who started treatment for ADHD in their area, the majority answered that the neuropediatrician (57.97%), followed by the child psychiatrist (34.78%) and the primary care pediatrician (5.31%). The lack of a psycho-pedagogical study by the school (49.79%), followed by the lack of time in the consultation (29.11%), was cited as the greatest difficulty in the initial assessment of children with suspected ADHD. Concerning the difficulties in the follow-up, the biggest complaint was the lack of coordination between professionals, the school and parents. And, lastly, regarding the type of treatment use, most patients were on prolonged-release methylphenidate, a stable percentage using immediate release methylphenidate as a single or combined treatment, and in a lower range was the use of clonidine and atomoxetine, and an incipient use of lisdexamphetamine were observed. 80% of the patient showed adherence to pharmacological treatment after one year. Conclusions. It is necessary to advance in the training and continuous education of our neuropediatric specialists in ADHD and to homogenize the clinical practice and coordination with education system in the Spanish territory (AU)

Hemiplejía alternante de la infancia: estudio del gen ATP1A3 en 16 pacientes / Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients

Fundamento y objetivo: La hemiplejía alternante de la infancia (HAI) es una enfermedad caracterizada por episodios recurrentes de hemiplejía, crisis tónicas o distónicas y movimientos oculares anormales de inicio precoz. Recientemente se han identificado mutaciones en el gen ATP1A3 como mecanismo causante de esta enfermedad. El objetivo es describir una serie de pacientes con diagnóstico clínico y genético de HAI. Pacientes y método: Se trata de un estudio descriptivo, retrospectivo y multicéntrico, de 16 pacientes con diagnóstico clínico de HAI, en quienes se documentaron mutaciones en el gen ATP1A3. Resultados: En la serie estudiada se encontraron 6 mutaciones distintas en el gen ATP1A3, todas en heterocigosis y de novo. La mutación más común fue G2401A, presente en 8 pacientes (50%), seguida por la mutación G2443A en 3 pacientes (18,75%), G2893A en 2 pacientes (12,50%), y C2781G, G2893C y C2411T en sendos pacientes (6,25% cada una). Conclusiones: En la poblacin estudiada con HAI se detectaron mutaciones de novo en el 100% de los pacientes estudiados. Las 2 mutaciones más frecuentes fueron la G2401A y la G2443A (AU)

Background and objective: Alternating hemiplegia in childhood (AHC) is a disease characterized by recurrent episodes of hemiplegia, tonic or dystonic crisis and abnormal ocular movements. Recently, mutations in the ATP1A3 gene have been identified as the causal mechanism of AHC. The objective is to describe a series of 16 patients with clinical and genetic diagnosis of AHC. Patients and method: It is a descriptive, retrospective, multicenter study of 16 patients with clinical diagnosis of AHC in whom mutations in ATP1A3 were identified. Results: Six heterozygous, de novo mutations were found in the ATP1A3 gene. The most frequent mutation was G2401A in 8 patients (50%) followed by G2443A in 3 patients (18.75%), G2893A in 2 patients (12.50%) and C2781G, G2893C and C2411T in one patient, respectively (6.25% each). Conclusions: In the studied population with AHC, de novo mutations were detected in 100% of patients. The most frequent mutations were D801N y la E815K, as reported in other series (AU)

[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients]. / Hemiplejía alternante de la infancia: estudio del gen ATP1A3 en 16 pacientes.

BACKGROUND AND OBJECTIVE: Alternating hemiplegia in childhood (AHC) is a disease characterized by recurrent episodes of hemiplegia, tonic or dystonic crisis and abnormal ocular movements. Recently, mutations in the ATP1A3 gene have been identified as the causal mechanism of AHC. The objective is to describe a series of 16 patients with clinical and genetic diagnosis of AHC. PATIENTS AND METHOD: It is a descriptive, retrospective, multicenter study of 16 patients with clinical diagnosis of AHC in whom mutations in ATP1A3 were identified. RESULTS: Six heterozygous, de novo mutations were found in the ATP1A3 gene. The most frequent mutation was G2401A in 8 patients (50%) followed by G2443A in 3 patients (18.75%), G2893A in 2 patients (12.50%) and C2781G, G2893C and C2411T in one patient, respectively (6.25% each). CONCLUSIONS: In the studied population with AHC, de novo mutations were detected in 100% of patients. The most frequent mutations were D801N y la E815K, as reported in other series.

Bases genéticas del trastorno por déficit de atención/hiperactividad / Genetic bases of attention deficit hyperactivity disorder

Objetivo. Realizar una actualización del principal grupo de genes que se ha relacionado con la susceptibilidad al trastorno por déficit de atención/hiperactividad (TDAH) o con la respuesta farmacológica a distintos fármacos utilizados en el tratamiento del TDAH, en diversos estudios de asociación y metaanálisis. Desarrollo. Diferentes estudios han avalado la importancia de la carga genética en la susceptibilidad a presentar TDAH. Los trabajos realizados señalan genes del sistema dopaminérgico como el gen que codifica para el transportador de dopamina (DAT1 o SLC6A3) y para el receptor D4 de dopamina (DRD4); del sistema noradrenérgico, como el gen codificante del receptor adrenérgico α2A (ADRA2A), el gen COMT que codifica para la enzima catecol-O-metiltransferasa y el gen que codifica para latrofilina 3 (LPHN3), como genes candidatos a participar en la susceptibilidad al TDAH, implicados en la respuesta farmacológica así como en el riesgo de presentar trastornos de conducta asociados. Por otra parte, los genes implicados en la regulación del metabolismo de los fármacos utilizados en el tratamiento a TDAH, tales como el gen CYP2D6 y el gen CES1, participan en la eficiencia y la tolerancia a estos psicofármacos. Conclusiones. Aunque en los últimos años se ha incrementado el número de estudios farmacogenéticos realizados acerca del TDAH, los resultados obtenidos son dispares entre ellos. Son necesarios estudios integradores y metaanalíticos para poder desarrollar un tratamiento más personalizado del TDAH (AU)

Aims. The purpose of this study is to update the information available on the main group of genes that have been related with a susceptibility to attention deficit hyperactivity disorder (ADHD) or with the pharmacological response to different drugs used in the treatment of ADHD, in a number of different association and meta-analysis studies. Development. Different studies have provided evidence of the importance of the genetic load in the susceptibility to ADHD. The work carried out to date point to genes in the dopaminergic system, such as the gene that codes for the dopamine transporter (DAT1 or SLC6A3) and for the dopamine receptor D4 (DRD4); in the noradrenergic system, like the gene coding for the adrenergic alpha-2A receptor (ADRA2A), the COMT gene, which codes for the enzyme catechol-Omethyltransferase and the gene that codes for latrophilin 3 (LPHN3), as genes that are candidates for playing a part in the susceptibility to ADHD, and being involved in the pharmacological response as well as in the risk of presenting associated behavioural disorders. On the other hand, the genes involved in regulating the metabolism of the drugs used in the treatment of ADHD, such as the gene CYP2D6 and gene CES1, play a role in the efficiency and tolerance of these psychopharmaceuticals. Conclusions. Although in recent years there has been an increase in the number of pharmacogenetic studies conducted on ADHD, findings differ significantly from one study to another. Integrating and meta-analytical studies are needed to be able to develop a more personalised treatment for ADHD (AU)

[Developmental amnesia as a focal cognitive sequela of a neonatal pathology]. / Amnesia del desarrollo como secuela cognitiva focal de patologia neonatal.

INTRODUCTION: The developmental amnesia is a recently known entity that occurs as a consequence of hypoxic-ischemic events in the perinatal period. This is a specific deficit of episodic memory with greater preservation of semantic memory and other memory components such as the immediate and working memory. It occurs in patients without apparent neurological sequelae, with normal psychomotor development and general intelligence. The developmental amnesia has been associated with bilateral involvement of the hippocampus, which is evident in some cases on magnetic resonance imaging (MRI) as signal disturbance and signs of atrophy, or reduced size of the hippocampus in brain volumetric studies. PATIENTS AND METHODS: We present six observations of developmental amnesia, their clinical, neuropsychological and neuroimaging findings. RESULTS: All of them show impaired episodic memory with preservation of semantic memory, have a normal general intelligence and follow a regular school with special educational needs. CONCLUSIONS: It is necessary to keep in mind this entity in monitoring risk newborns by their perinatal history and include the exploration of memory in neuropsychological study of these subjects. On the other hand, we highlight the specificity of the clinical and neuropsychological profile for the diagnosis of developmental amnesia even in the absence of hippocampal lesions on conventional MRI.

Amnesia del desarrollo como secuela cognitiva focal de patología neonatal / Developmental amnesia as a focal cognitive sequela of a neonatal pathology

Introducción. La amnesia del desarrollo es una entidad de reciente conocimiento que se presenta como secuela de eventos hipóxico-isquémicos en la etapa perinatal. Se trata de un déficit específico de la memoria episódica con mejor preservación e la memoria semántica y otros componentes de la memoria, como son la memoria inmediata y la de trabajo. Se presenta en pacientes sin secuelas neurológicas aparentes, con un desarrollo psicomotor y una inteligencia general normales. La amnesia del desarrollo se ha asociado a la afectación bilateral del hipocampo, evidente en algunos casos en la resonancia magnética en forma de alteración de la señal y signos de atrofia, o bien disminución del tamaño del hipocampo en estudios volumétricos cerebrales.Pacientes y métodos. Se presentan seis observaciones de amnesia del desarrollo, su cuadro clínico, exploración neuropsicológica y hallazgos de neuroimagen. Resultados. Todos ellos muestran una alteración de la memoria episódica con preservación de la memoria semántica. Presentan una inteligencia general normal y siguen una escolarización ordinaria con necesidades educativas especiales. Conclusiones. Es necesario tener presente esta entidad en el seguimiento de los recién nacidos de riesgo por sus antecedentes perinatales e incluir la exploración de la memoria en el estudio neuropsicológico de estos sujetos. Por otra parte, se señala la especificidad del cuadro clínico y del perfil neuropsicológico para el diagnóstico de la amnesia del desarrollo aun en ausencia de lesiones del hipocampo en la resonancia magnética convencional (AU)

Introduction. The developmental amnesia is a recently known entity that occurs as a consequence of hypoxic-ischemic events in the perinatal period. This is a specific deficit of episodic memory with greater preservation of semantic memory and other memory components such as the immediate and working memory. It occurs in patients without apparent neurological sequelae, with normal psychomotor development and general intelligence. The developmental amnesia hasbeen associated with bilateral involvement of the hippocampus, which is evident in some cases on magnetic resonance imaging (MRI) as signal disturbance and signs of atrophy, or reduced size of the hippocampus in brain volumetric studies. Patients and methods. We present six observations of developmental amnesia, their clinical, neuropsychological and neuroimaging findings. Results. All of them show impaired episodic memory with preservation of semantic memory, have a normal general intelligence and follow a regular school with special educational needs. Conclusions. It is necessary to keep in mind this entity in monitoring risk newborns by their perinatal history and include the exploration of memory in neuropsychological study of these subjects. On the other hand, we highlight the specificity of the clinical and neuropsychological profile for the diagnosis of developmental amnesia even in the absence of hippocampal lesions on conventional MR (AU)

Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders.

Although patients with low cerebrospinal fluid (CSF) serotonin metabolite levels have been reported, inborn errors of the rate-limiting enzyme of serotonin synthesis (tryptophan hydroxylase, TPH) have not been described so far. In this study we aimed to evaluate CSF alterations of the serotonin metabolite 5-hydroxyindolacetic acid (5-HIAA) in patients with neurological disorders and to explore a possible TPH deficiency in some of them. A total of 606 patients (286 males, 320 females, mean age 4 years and 6 months, SD 5 years and 7 months) underwent CSF analysis of neurotransmitter metabolites by reverse phase high performance liquid chromatography. Results were compared with values established in a control population. Patients' medical records were reviewed to determine diagnosis and clinical features. A primary defect of biogenic amines was genetically investigated in indicated patients. Low 5-HIAA was seen in 19.3%. Of these, 22.2% showed inborn errors of metabolism (mitochondrial disorders being the most frequent at 10.2% of low 5-HIAA patients) and neurogenetic conditions. Other relatively frequent conditions were pontocerebellar hypoplasia (4.3%), Rett syndrome (4.3%), and among congenital nonetiologically determined conditions, epilepsy including epileptic encephalopathies (26.4%), leukodystrophies (6.8%), and neuropsychiatric disturbances (4.2%). Mutational analysis of the TPH2 gene, performed in five candidate patients, was negative. Although frequency of secondary alteration of 5-HIAA was relatively high in patients with neurological disorders, this finding was more frequently associated with some neurometabolic disorders, epileptic encephalopathies, and neuropsychiatric disturbances. No inborn errors of TPH were found. Due to serotonin's neurotrophic role and to ameliorate symptoms, a supplementary treatment with 5-hydroxytriptophan would seem advisable in these patients.

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

de Monitorización Videoelectroencefalográfica del Hospital Sant Joan de Déu de Barcelona, y determinar los factores de riesgo para presentar retraso mental. Pacientes y métodos. Se analizan retrospectivamente las historias de los pacientes ingresados desde el inicio de la Unidad de la Epilepsia (marzo de 2005) hasta diciembre de 2008. De los 158 pacientes (edad media: 8,8 ± 5,2 años; 55,1%, sexo masculino), se analizan los datos de los pacientes con un valor de cociente intelectual (CI) estimado, mayores de 3 años y con actividad epiléptica objetivada por electroencefalograma (EEG). Se agrupan en CI menor de 70 y CI mayor o igual a 70 (63 y 47 niños, respectivamente). Todos los sujetos presentaban una epilepsia farmacorresistente. Resultados. El porcentaje de pacientes con retraso mental es significativamente más alto en pacientes que inician la epilepsia antes de los 24 meses (68,3%) que en los que la inician más tarde (27,7%). Las variables que representan un riesgo mayor para presentar retraso mental son la edad de inicio de las crisis, los hallazgos del EEG y la etiología de la epilepsia. Conclusión. Haber iniciado las crisis de forma precoz, tener una epilepsia multifocal y una etiología criptogénica son factores de mal pronóstico para el desarrollo normal de las funciones cognitivas en pacientes pediátricos con epilepsias (AU)

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 Déu 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 (AU)

Age-related brain structural alterations in children with specific language impairment.

Previous neuroimaging studies have suggested that children with specific language impairment (SLI) may show subtle anatomical alterations in specific brain regions. We aimed to characterize structural abnormalities in children with SLI using a voxel-wise analysis over the whole brain. Subjects covered a wide age range (5-17 years) in order to assess the dynamic nature of the disorder across childhood. Three-dimensional MRIs were collected from 36 children with SLI and from a comparable group of healthy controls. Global gray and white matter measurements were obtained for each subject, and voxel-based morphometry (VBM) was used to evaluate between-group differences in regional brain anatomy. Possible age-related changes were assessed in separate analyses of younger (below 11 years of age) and older children. SLI patients showed larger global gray and white matter volumes, particularly in the younger subgroup. Voxel-wise analyses of the whole sample showed two regions of increased gray matter volume in SLI: the right perisylvian region and the occipital petalia. Age-group analyses suggested a more extended pattern of volume increases in the younger subjects, which included entorhinal, temporopolar, caudate nucleus, motor-precentral and precuneus gray matter, and white matter of the frontal and temporal lobes. Our results suggest that in the SLI brain there are enduring anatomical alterations that exist across a wide age range, as well as a distributed pattern of abnormalities that appear to normalize with development. They also suggest that the neuroanatomical basis of SLI may be better characterized by considering the dynamic course of the disorder throughout childhood.

TDA/H i tabaquisme / No disponible

No disponible

Cognitive functions in classic phenylketonuria and mild hyperphenylalaninaemia: experience in a paediatric population.

A study of 37 individuals with phenylketonuria (PKU; 17 females and 20 males, mean age 9y 9mo (standard deviation [SD] 5y 3mo), range 2y 8mo to 19y 4mo; and 35 individuals with hyperphenylalaninaemia (HPA; 20 females, 15 males, mean age 7y 10mo [SD 3y 2mo], range 2y 8mo to 17y 3mo) compared with 29 healthy controls (14 females and 15 males, mean age 9y 8mo [SD 4y 9mo], range 2y 6mo to 18y 10mo) was performed. The aim was to assess cognitive function in persons with HPA and to investigate the relation between cognitive function in PKU and the metabolic control of patients. A wide variety of neuropsychological tests was employed. Those with PKU showed lower values in intelligence and in visuo-spatial, fine motor, executive, and attention functions when compared with a control population. Plasma phenylalanine values from the first 6 years of life were negatively associated with intelligence and other cognitive functions. Executive function scores were significantly lower when comparing HPA patients with the control group. It was concluded that individuals with PKU under dietary treatment may present slightly decreased cognitive function scores when compared with control individuals, while those with HPA have scores mostly similar to those of controls, except for executive function tests. Good metabolic control of PKU seems necessary to prevent cognitive function impairments, especially during the first 6 years of life.

Infectious acute hemicerebellitis.

We report the case of a 5-year-old girl with initial symptoms of encephalitis who presented 24 hours later with hemiataxia, unilateral dysmetria, and hemiparesis. Brain magnetic resonance image (MRI) revealed a high T2-weighted signal in the ipsilateral hemicerebellar cortex. Forty-five days later, a second MRI disclosed signs of hemiatrophy and cortical gliosis. The clinical outcome was favorable, with only a slight lack of motor coordination in the involved hand remaining. Three other cases of hemicerebellitis have been reported in the literature, two of them presenting with hemicerebellar symptoms and one mimicking a tumor. Follow-up imaging studies some months later have shown hemiatrophy of the cerebellar cortex, except in one case with a normal control MRI. The pathophysiology of this unilateral involvement is difficult to explain. We underline the need to consider this rare entity in asymmetric cerebellar clinical presentations and to perform MRI rather than computed tomography to reach the correct diagnosis.

Delayed myelination in children with developmental delay detected by volumetric MRI.

Delayed acquisition of developmental motor and cognitive milestones is a common clinical expression of many etiological processes. Imaging exams of developmentally delayed children often show no structural brain alterations despite suspicion of brain maturation delay. MRI studies increasingly suggest that white matter myelination finely reflects the progression in functional brain maturation. In this volumetric MRI study, we sought to evaluate whether developmental delay in children with normal conventional MRI exams is associated with reduced myelinated white matter. A total of 100 children (mean age, 4.4 years) with developmental delay and 50 normally developing age-matched control children underwent 3-D MRI to measure the volume of myelinated white matter. Patients showed a significant reduction in the relative content of myelinated white matter (accounting for 19.8% of brain volume in patients and 21.4% in control subjects, P = 0.005). The observed difference was equivalent to a 3.2-year myelination delay. Although the whole hemispheres were invariably symmetrical, the volume of myelinated white matter was asymmetrical in 30% of patients and 10% of control subjects (P = 0.006). We conclude that volumetric assessment of white matter may reveal a reduction in brain myelination beyond early childhood in developmentally delayed children showing normal brain appearance. This finding further emphasizes the view of white matter myelination as an indicator of functional brain maturation.