[Familial MECP2 duplication syndrome]. / Síndrome de duplicación MECP2 familiar.

TITLE: Síndrome de duplicación MECP2 familiar.

[Neurofibromatosis 1 and multiple familial cavernomatosis in an infant with episodic profuse sialorrhoea]. / Neurofibromatosis 1 y cavernomatosis multiple familiar en un lactante con sialorrea profusa episodica.

TITLE: Neurofibromatosis 1 y cavernomatosis multiple familiar en un lactante con sialorrea profusa episodica.

[A study of primary school teachers' knowledge of attention deficit hyperactivity disorder]. / Estudio de los conocimientos de los maestros de educacion primaria sobre el trastorno por deficit de atencion/hiperactividad.

INTRODUCTION: The high prevalence of attention deficit hyperactivity disorder (ADHD), with at least one pupil per classroom, poses a challenge for all the professionals in contact with them, especially for teachers. AIM: To examine how much primary school teachers know about ADHD in three areas (general information, symptoms and diagnosis, and treatment). SUBJECTS AND METHODS: 125 primary school teachers from different communities answered the Knowledge of Attention Deficit Hyperactivity Disorder Scale (KADDS). RESULTS: The teachers answered fewer than half the items correctly, the symptoms and diagnosis subscale being the one where they were seen to be most knowledgeable. Teachers who had had children with ADHD in class displayed greater knowledge in the areas of general information and treatment, but less on the symptoms and diagnosis subscale. 32.8% of the teachers reported feeling somewhat or totally unable to teach children with ADHD in an effective way and recommend special education as a better educational style. Teachers with specific training in ADHD obtained better scores than those who had not received such instruction. CONCLUSION: Teachers with training in ADHD are more knowledgeable and more confident about their abilities when it comes to teaching children with ADHD.

TITLE: Estudio de los conocimientos de los maestros de educacion primaria sobre el trastorno por deficit de atencion/hiperactividad.Introduccion. La alta prevalencia del trastorno por deficit de atencion/hiperactividad (TDAH), con al menos un alumno por aula, supone un reto para todos los profesionales que estan en contacto con ellos, en especial para los maestros. Objetivo. Examinar los conocimientos de los maestros de educacion primaria sobre el TDAH en tres areas (informacion general, sintomas y diagnostico, y tratamiento). Sujetos y metodos. Un total de 125 maestros de educacion primaria de varias comunidades cumplimentaron la Knowledge of Attention Deficit Hyperactivity Disorder Scale (KADDS). Resultados. Los maestros contestaron de forma correcta a menos de la mitad de los items, y la subescala de sintomas y diagnostico es donde mas conocimientos demostraron. Los maestros que habian tenido niños con TDAH en clase mostraron mas conocimientos en las areas de informacion general y tratamiento, pero no en la subescala de sintomas y diagnostico. Un 32,8% de los maestros describe sentirse poco o nada capaz de enseñar eficazmente a niños con TDAH y recomienda la educacion especial como mejor estilo educativo. Los maestros con formacion especifica en TDAH obtuvieron mejores resultados en la KADDS en comparacion con los maestros sin formacion. Conclusion. Los maestros formados en TDAH demuestran un mayor grado de conocimiento y aumenta su confianza para llevar a cabo la labor educativa de los niños con TDAH.

Unidades de Neuropediatría y Metabolismo del Hospital Universitario Miguel Servet de Zaragoza / Neuropediatrics and Metabolism Unit of the Hospital Universitario Miguel Servet of Zaragoza

El presente documento expone un resumen de la actual sistemática de trabajo de las Unidades dc Neuropediatría y Metabolismo del Hospital Universitario Miguel Servet de Zaragoza. Se dispone de herramientas de trabajo de enorme utilidad: bases de datos de neuropediatría y metabolismo, protocolos, hojas de información y consentimientos informados. A partir de dichas herramientas, se expone la actividad de las Unidades asistenciales, docentes y de investigación, incluida la actividad generada por el cribado neonatal ampliado (AU)

This document represents a summary of how the Neutopediatric and Metabolic Units work at the University Hospital Miguel Servet in Zaragoza. The extremely useful tools available today are Neuropediatric and Metabolic Data Bases, clinical protocols, parents’ and professionals’ information sheets and informed consent forms. Health-care, educational and research activity, including amplified neonatal screening, are drawn from these tools (AU)

Chronic non-spherocytic hemolytic anemia associated with severe neurological disease due to gamma-glutamylcysteine synthetase deficiency in a patient of Moroccan origin.

A previously undescribed mutation of hereditary gamma-glutamylcysteine synthetase (GCS) deficiency was found in a 5 year old boy of Moroccan origin. He presented with chronic haemolytic anaemia, delayed psychomotor development and progressive motor sensitive neuropathy of lower extremities. The parents were third degree relatives. The activity of glycolytic enzymes were found to be normal in the propositus, his parents and a sister, but and a complete lack of GSH was found in the propositus. Accordingly, the measurement of de novo GSH synthetic enzymes was undertaken, and severe GCS deficiency was found in the propositus. Both parents and his sister presented GCS activity ranging from 69% to 90% of normal. GCS gene sequencing showed that the propositus was homozygous for a 1241C>T mutation in exon 11 and both parents and his sister were heterozygous. This mutation predicts a Pro414Leu amino acid substitution. Even though the homology between GCS and crystallographically solved, functionally related proteins is not very high, a three-dimensional model of GCS was derived using Modeller Software. GCS deficiency is a very rare autosomal recessive disorder reported so far in only 8 unrelated probands with severe haemolytic anaemia. In only 3 of these was the anaemia associated with severe neurological dysfunction. We report here the fourth case of GCS deficiency presenting neuropathy, giving further support to the eventual relationship between this enzymopathy and neurological damage.

[Variability in the treatment of headaches in visits to the Neuropaediatrics service at six Spanish hospitals]. / Variabilidad en el tratamiento de las cefaleas en las consultas de Neuropediatría de seis hospitales españoles.

INTRODUCTION: Headache is one of the chief reasons for visiting Neuropaediatric units. Variability in clinical practice has been defined as variations in the rates a clinical procedure is employed. The aim of this work is to study the variability in the treatment of children's headaches in six Spanish hospitals. PATIENTS AND METHODS: We conducted a retrospective study involving patients who first visited because of a headache some time in the year 1999. Data were collected in December 2003. The following variables were analysed: type of headache, neuroimaging scans, beginning of prophylaxis, follow-up visits to clinic and number of patients who dropped out of the follow-up. RESULTS: In all, 372 children were attended. 63.4% of the headaches were considered as being migraine-type; 43% of the patients were submitted to neuroimaging and prophylaxis was established in 36.8%. Mean follow-up time in the clinic was 10.6 months and the mean number of visits was 3. 30% had dropped out of the follow-up. In the comparative analysis, significant differences were found in all the variables studied. CONCLUSIONS: Overall results are similar to those found in other series. The differences found between centres can be accounted for by differences in population, differences in health professionals' styles of medical practice or by the nonexistence of clear guidelines regarding a particular procedure.

Variabilidad en el tratamiento de las cefaleas en las consultas de Neuropediatría de seis hospitales españoles / Variability in the treatment of headaches in visits to the neuropaediatrics service at six spanish hospitals

Introducción. La cefalea es una de las principales causasde consulta en las unidades de Neuropediatría. La variabilidad en lapráctica médica se ha definido como la variaciónes en las tasas deun procedimiento clínico. El objetivo de este trabajo es estudiar lavariabilidad en el manejo de las cefaleas infantiles entre seis hospitalesespañoles. Pacientes y métodos. Se trata de un trabajo retrospectivoen el que se incluyen aquellos pacientes que acudieron a laconsulta debido a una cefalea por primera vez durante el año 1999.La recogida de datos se realizó en diciembre de 2003. Se analizaronlas siguientes variables: tipo de cefalea, realización de neuroimagen,inicio de profilaxis, tiempo de seguimiento en consultas y número depacientes que abandonaron el seguimiento. Resultados. Se atendieron372 niños. Un 63,4% de las cefaleas se consideró migrañosa; aun 43% de los pacientes se les practicó neuroimagen y se inició profilaxisa un 36,8%. La media de seguimiento en consultas fue de 10,6meses, y el número medio de visitas fue de tres. Un 30% había abandonadoel seguimiento. En el análisis comparativo, se han encontradodiferencias significativas en todas las variables estudiadas. Conclusiones.Los resultados globales son similares a los encontrados enotras series. Las diferencias encontradas entre los centros puedeninterpretarse como debidas a las diferencias poblacionales, por losdiferentes estilos de práctica médica de los profesionales, o bien porla inexistencia de pautas claras con respecto a un determinado procedimiento

Introduction. Headache is one of the chief reasons for visiting Neuropaediatric units. Variability in clinical practicehas been defined as variations in the rates a clinical procedure is employed. The aim of this work is to study the variability inthe treatment of children’s headaches in six Spanish hospitals. Patients and methods. We conducted a retrospective studyinvolving patients who first visited because of a headache some time in the year 1999. Data were collected in December 2003.The following variables were analysed: type of headache, neuroimaging scans, beginning of prophylaxis, follow-up visits toclinic and number of patients who dropped out of the follow-up. Results. In all, 372 children were attended. 63.4% of theheadaches were considered as being migraine-type; 43% of the patients were submitted to neuroimaging and prophylaxis wasestablished in 36.8%. Mean follow-up time in the clinic was 10.6 months and the mean number of visits was 3. 30% haddropped out of the follow-up. In the comparative analysis, significant differences were found in all the variables studied.Conclusions. Overall results are similar to those found in other series. The differences found between centres can beaccounted for by differences in population, differences in health professionals’ styles of medical practice or by the inexistenceof clear guidelines regarding a particular procedure

Síndrome de obstrucción de intestino distal: una complicación digestiva de la fibrosis quística / Distal intestinal obstruction syndrome: a digestive complication of Cystic Fibrosis

Los pacientes con Fibrosis Quística (FQ) pueden desarrollar complicaciones gastrointestinales y pancreáticas que aumentan la morbimortalidad, derivadas de la alteración básica secretora producida por la proteína anómala o Regulador de la Conductancia Transmembrana de la Fibrosis Quística (CFTR), que condiciona un defecto en el transporte extracelular de los iones Cl- y aumento de la reabsorción de Na+ a través de las membranas apicales celulares.Las manifestaciones clínicas del Síndrome de Obstrucción del Intestino Distal (SOID) son episodios recurrentes de obstrucción intestinal completa o parcial, secundaria a la impactación de material fecal en el íleon terminal, ciego y colon ascendente.Varios factores han sido implicados en la patogénesis: motilidad intestinal anormal, desarrollo de insuficiencia pancreática, suplementos inadecuados de enzimas pancreáticos y deshidratación.La prevalencia de SOID en pacientes FQ es del 15 por ciento y algunas veces es el único síntoma de presentación de la enfermedad. En menores de 5 años la prevalencia es del 2 por ciento y asciende al 30 por ciento en adultos.El diagnóstico es clínico y radiológico. El manejo médico inicial incluye hidratación adecuada, reajuste de dosis de suplementos de enzimas pancreáticos y fibra dietética y, si no hay respuesta, laxantes y lavado intestinal con solución electrolítica isosmolar, no absorbible. El tratamiento quirúrgico está limitado a la obstrucción completa. Comunicamos dos casos clínicos, ambos con obstrucción parcial e insuficiencia pancreática, de 7 y 23 años (AU)

[Epileptic signs in alterations of neuronal migration]. / Manifestaciones epilépticas en las alteraciones de la migración neuronal.

INTRODUCTION: A wide range of conditions are due to alterations in neurone migration (ANM). Mental retardation, motor disorders and epilepsy are seen in all these disorders. Anomalies included with the ANM are those produced at the time of neuronal migration in the phase prior to neurone proliferation and during the time following cortical organization. All these have a common characteristic, namely an anomalous cerebral cortex (cerebral dysplasias). DEVELOPMENT: There is a high incidence of epilepsy in ANM (60%), appearing early (10% neonatal, 42% before 1 year old). The frequency of crises increases with age. Extended and diffused generalized forms presents as epileptic encephalopathies (Ohtahara, West, Lennox-Gastaut), whilst focal forms are seen as simple motor, partial crises, complex and secondarily generalized crises with a tendency to status epilepticus and also to continuous partial epilepsy. In diffuse, extensive forms, the EEG is characterized by large amplitude theta-delta rhythm activity (specific) with the presence of rapid activity (15-25 Hz) and of large amplitude (150-300 microV) which may also be found in other processes. In localized forms the recordings vary: localized discharges with/without crises, multifocal discharges in more than two lobes with a defined critical area, positive discharges, ipsilateral spike-and-wave complexes associated with focal discharges or with normal recordings. We review different types of ANM: in the phase of proliferation (hemimegalencephalia), the agyria-paquigyria complex; in phase of migration: type I lissencephalias (Miller-Dieker), layered heterotopias (double cortex), type II (cobblestone) lissencephalias and neuronal heterotopias, and in the phase of organization of the cortex: polymicrogyria and the esquissencephalias I and II. CONCLUSIONS: The functional prognosis in ANM depends on the control of the crises rather than on the extent of the lesion. Surgical treatment leads to 42% good or excellent results.

[Perinatal intracranial hemorrhage due to immune thrombocytopenia]. / Hemorragia intracraneal perinatal por trombocitopenia inmune.

INTRODUCTION: Immune neonatal thrombocytopenia is caused by maternal antibodies (IgG) passing across the placenta, with subsequent destruction of foetal platelets. There are two forms, the iso-aloimmune forms, with an incidence of intracranial hemorrhage (ICH) in the neonatal period of 10-20%, and the autoimmune form with an incidence of only 1%. OBJECTIVE: To review the patients with this condition in a neonatal unit. CLINICAL CASES: During the past 12 years, three patients with ICH due to immune thrombocytopenia were attended in the neonatal unit. Three newborn babies had ICH (two intrauterine, at 30 and 33 weeks of gestation, and one postnatal) secondary to immune thrombocytopenia (two aloimmune and one autoimmune). Two births were by caesarean section and one was vaginal. All three had thrombocytopenia at birth (12,000; 23,000 and 56,000 platelets/mm3). Immunological study of the platelets from the patients with aloimmune thrombocytopenia showed the absence of HPA-1a in their mothers. The patients were treated with gammaglobulins and platelets. Intracranial hemorrhage was confirmed on neuroimaging in all cases. A porencephalic cyst was seen to have formed in two cases. The clinical course was satisfactory in two patients. However, the third patient had severe motor impairment and died 9 months later. In all three patients the PEV were altered and two had reduced visual acuity. CONCLUSIONS: 1. Perinatal ICH due to immune thrombocytopenia is uncommon, but potentially serious. 2. We suggest that cranial ecographic studies should be done in all newborn babies with immune thrombocytopenia even when no neurological disorder is seen. 3. Early diagnosis and suitable treatment may help to reduce the neurological sequelae. 4. The neurological complications are due to intraparenchymatous hemorrhage, and visual sequelae are frequent.

[Visual evoked potentials in children with tension headaches and migraine]. / Potenciales evocados visuales en niños con cefalea tensional y migraña.

OBJECTIVE: To determine whether visual evoked potentials (VEP) change, and to what degree, in different types of headache (migraine with or without aura, or tension headache). PATIENTS AND METHODS: We made a transversal study of 78 children (aged 3-14 years) studied between March 1997 and August 1998, classified into three groups according to HIS diagnostic criteria of 1988 and HIS-R 1997. A VEP of geometric pattern was done using the recording technique recommended by the International Society in their standards for VEP and the reference values were used for an amplitude of less than 5 microV and a latency of P100 +/- 15 ms. The qualitative variable was frequency, and the quantitative variables were the mean and the standard deviation. We studied the association between qualitative variables using the chi-squared test and the differences in means between the groups with ANOVA. All differences were considered to be statistically significant when p < 0.05. RESULTS: Girls made up 55%, with an average age of 8.84 years and a standard deviation of 3 years. There were no statistically significant differences in the mean of the VEP findings between the different types of headache with regard to amplitude (p = 0.975) and latency (p = 0.941). Neither were there any significant differences in the response to VEP in the different types of headache as far as sex and age were concerned, with p = 0.268 and p = 0.147 respectively. CONCLUSION: Our results show no statistically significant differences and do not support the idea of using VEP as a neurophysiological method for studying headaches and differentiating the various types.