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

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

BACKGROUND: Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. Different therapeutic agents are under development, and clinical evaluation of drug candidates will require a standardized score of cerebellar dysfunction. We aim to assess the validity of the International Cooperative Ataxia Rating Scale (ICARS) in children and adolescents with genetically confirmed PMM2-CDG deficiency. We compare ICARS results with the Nijmegen Pediatric CDG Rating Scale (NPCRS), neuroimaging, intelligence quotient (IQ) and molecular data. METHODS: Our observational study included 13 PMM2-CDG patients and 21 control subjects. Ethical permissions and informed consents were obtained. Three independent child neurologists rated PMM2-CDG patients and control subjects using the ICARS. A single clinician administered the NPCRS. All patients underwent brain MRI, and the relative diameter of the midsagittal vermis was measured. Psychometric evaluations were available in six patients. The Mann-Whitney U test was used to compare ICARS between patients and controls. To evaluate inter-observer agreement in patients' ICARS ratings, intraclass correlation coefficients (ICC) were calculated. ICARS internal consistency was evaluated using Cronbach's alpha. Spearman's rank correlation coefficient test was used to correlate ICARS with NPCRS, midsagittal vermis relative diameter and IQ. RESULTS: ICARS and ICARS subscores differed between patients and controls (p < 0.001). Interobserver agreement of ICARS was "almost perfect" (ICC = 0.99), with a "good" internal reliability (Cronbach's alpha = 0.72). ICARS was significantly correlated with the total NPCRS score (rs 0.90, p < 0.001). However, there was no agreement regarding categories of severity. Regarding neuroimaging, inverse correlations between ICARS and midsagittal vermis relative diameter (rs -0.85, p = 0.003) and IQ (rs -0.94, p = 0.005) were found. Patients bearing p.E93A, p.C241S or p.R162W mutations presented a milder phenotype. CONCLUSIONS: ICARS is a reliable instrument for assessment of PMM2-CDG patients, without significant inter-rater variability. Despite our limited sample size, the results show a good correlation between functional cerebellar assessment, IQ and neuroimaging. For the first a correlation between ICARS, neuroimaging and IQ in PMM2-CDG patients has been demonstrated.

[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)

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)

Prematuritat i problemes conductuals i del desenvolupament / No disponible

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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.