Efectos del tratamiento con andrógenos sobre la neurocognición en adolescentes transgénero de mujer a hombre / Androgen treatment effects on neurocognition in female-to-male transgender adolescents

Introducción Se ha planteado la hipótesis de que la neurocognición en personas transgénero durante el tratamiento hormonal cruzado podría aproximarse a la del género subjetivo. Sin embargo, la investigación sobre este tema ha producido resultados inconsistentes y, hasta donde sabemos, ningún estudio ha investigado los cambios neurocognitivos en adolescentes transgénero de mujer a hombre (FM) tratados con andrógenos. Sujetos y métodos Quince adolescentes transgénero FM (14-17 años) se sometieron a pruebas neuropsicológicas para examinar los efectos de los andrógenos en sus habilidades visuoespaciales, memoria verbal, velocidad de procesamiento y funciones ejecutivas. Utilizamos un diseño longitudinal en el que se evaluó a 10 participantes dos veces, antes y después de recibir, durante 12 meses, tratamiento con testosterona. Este grupo también se comparó con cinco adolescentes transgénero FM sin tratamiento con andrógenos. Resultados Los participantes evaluados antes y después de 12 meses de tratamiento con andrógenos mejoraron significativamente en velocidad de procesamiento en una tarea visuoespacial (prueba de la figura compleja de Rey-Osterrieth) y en una tarea visual (Stroop), en una tarea de memoria verbal (test de aprendizaje verbal España-Complutense) y en interferencia (Stroop), y exhibieron un menor control de la impulsividad (test de percepción de diferencias revisado). Los adolescentes que recibieron tratamiento con andrógenos mostraron un peor control de la impulsividad cognitiva que los adolescentes que no recibieron tratamiento con andrógenos. Conclusiones Los resultados indican que los andrógenos influyen en la memoria verbal, la interferencia cognitiva, el control de la impulsividad y la velocidad de procesamiento. (AU)

INTRODUCTION It has been hypothesized that cognitive and memory-related brain function in transgender during cross-sex hormonal treatment might be activated towards that of the subjective gender. However, research on this topic has produced inconsistent results, and to the best of our knowledge no studies have investigated neurocognitive changes in androgen-treated female-to-male (FM) transgender adolescents. SUBJECTS AND METHODS A total of 15 FM transgender adolescents (14-17 years) underwent neuropsychological testing in order to examine the effects of androgen on visuo-spacial abilities, verbal memory language, processing speed and executive functions. We used a longitudinal design in which 10 participants were tested twice, before and after receiving 12 months of testosterone treatment. This group was also compared with 5 FM transgender adolescents off-androgen treatment. RESULTS Participants tested before and after 12 months of androgen treatment improved significantly on processing speed in a visuo-spatial (Rey-Osterrieth complex figure test) and in a visuo-oral task (Stroop), their performance on a verbal memory task (TAVEC) and on interference (Stroop) and they exhibited lower impulsivity control (CARAS-R). On-androgen treatment adolescents exhibited worse cognitive impulsivity control than off-androgen treatment adolescents. CONCLUSIONS The results indicate that androgen has an influence on immediate verbal memory, cognitive interference, impulsivity control and processing speed. (AU)

Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.

Alazami syndrome is a rare disorder with an autosomal recessive inheritance caused by pathogenic biallelic variants in the LARP7 gene. Clinically, it is mainly characterized by short stature, intellectual disability, and dysmorphic facial features. However, the phenotype is not yet well-defined because less than 50 cases have been described to date. Here, we report three new patients from two unrelated Spanish families who, in addition to the defined features of Alazami syndrome, also exhibit unique features that broaden the phenotypic spectrum of the syndrome. Moreover, we describe the novel frameshift variant c.690_699delins27 in the LARP7 gene, in which loss of function is a known mechanism of Alazami syndrome.

Outcomes from a Spanish Expanded Access Program on cannabidiol treatment in pediatric and adult patients with epilepsy.

AIM: To evaluate the effectiveness and tolerability of cannabidiol (CBD) in patients with developmental and epileptic encephalopathies, including Dravet syndrome (DS), and Lennox-Gastaut syndrome (LGS), in a Spanish Expanded Access Program (EAP). METHODS: This was a multicenter, retrospective, observational study of patients treated with purified CBD in 14 hospitals across Spain. Patients with (1) written informed consent and (2) at least 6 months follow-up before the closure of the database were included. Primary effectiveness endpoints included reductions (100 %, ≥75 %, ≥50 %, ≥25 %, or 0 %) or worsening in seizure frequency (all seizure types and most disabling seizures) at 1-, 3-, 6-, and 12-month visits and at the last visit, and median relative seizure reduction between baseline and last visit. Secondary effectiveness endpoints included retention rate, reduction in seizure severity, status epilepticus, healthcare utilization, and quality of life. Primary safety endpoints included rates of adverse events (AEs) and AEs leading to discontinuation. RESULTS: One hundred and two patients (DS 12 %; LGS 59 %; other epilepsy syndromes 29 %) with a mean age of 15.9 years were enrolled. Patients were highly refractory to antiseizure medications (ASMs); mean number of prior failed ASMs was 7.5 (SD 3.7). The mean CBD dose was 13.0 mg/kg/day at the last visit. The proportion of patients with ≥50 % reduction in the total number of seizures from baseline was 44.9 % at 6 months and 38.9 % at 12 months. The median number of total seizures per month reduced by 47.6 % from baseline to the last visit. At 12 months, seizure severity was lower in 33/54 patients (61.1 %) and unchanged in 17/54 patients (31.5 %). Quality of life, based on the CAVE scale, increased from a mean score of 17.9 ± 4.7 (n = 54) at baseline to 21.7 ± 5.5 (n = 51) at the last patient visit (21.2 % improvement). The mean treatment retention time was 10.3 months. There were no statistically significant changes in the number of status epilepticus episodes, but lower healthcare utilization was observed. Adverse events occurred in sixty-eight patients (66.7 %), and the most common were somnolence (34.3 %) and diarrhea (12.7 %). Cannabidiol was discontinued exclusively due to AEs in 7.8 % of patients, increasing to 25.5 % when both lack of efficacy and AEs were considered together. CONCLUSIONS: Cannabidiol demonstrated promising effectiveness and tolerability in patients with developmental and epileptic encephalopathies taking part in a Spanish EAP.

Impacto del tratamiento con metilfenidato sobre las propiedades funcionales y estructurales del ventrículo izquierdo a medio plazo en el trastorno por déficit de atención e hiperactividad / The impact of methylphenidate treatment on the functional and structural properties of the left ventricle: A medium-term prospective study

Introducción: El metilfenidato (MTF) es un psicoestimulante que aumenta frecuencia cardiaca (FC) y presión arterial (PA), lo cual a largo plazo podría modificar la geometría del ventrículo izquierdo (VI) y alterar sus propiedades funcionales, principalmente la diastólica. Material y métodos: Estudio prospectivo, longitudinal y comparativo tipo caso-caso en niños y adolescentes sanos diagnosticados de trastorno por déficit de atención e hiperactividad (TDAH) tratados con MTF durante 3 años. Se valoró pre y postratamiento PAS/PAD, geometría ventricular, función sistólica y diastólica. Resultados: Incluimos a 112 pacientes, completando 73. El 75,3% varones, entre 4-15 años (9±2,6), con índice de masa corporal de 18,27±3,75 y una dosis media de MTF de 0,9±0,17mg/kg/día. Objetivamos aumento de PAS/PAD de 3,7±9mmHg (p = 0,004) y 2±11,5mmHg, respectivamente. No tuvimos ningún evento cardiovascular grave, cambios estructurales ni variación en los parámetros de función sistólica estudiados. Sin embargo, encontramos un aumento discreto, pero progresivo y significativo del tiempo de relajación isovolumétrica del VI (p = 0,046) y del tiempo de desaceleración (p = 0,016) indicativos de alteración en la relajación. No observamos variación en los parámetros relacionados con la distensibilidad ni con las presiones diastólicas tempranas y ningún paciente cumplió criterios de disfunción diastólica. Conclusiones: El incremento de PAS/PAD y las alteraciones de la relajación del VI objetivadas podrían ser un indicador precoz de una posible disfunción diastólica y riesgo cardiovascular a largo plazo.(AU)

Introduction: Although methylphenidate (MPH) used for treatment of Attention deficit hyperactivity disorder (ADHD) are considered safe in healthy children and adolescents in the short and medium term, there is a widespread concern about long-term cardiovascular safety. Material and methods: Interventional, prospective, longitudinal and comparative study with a crossover design to evaluate the cardiovascular impact of the treatment with MPH in healthy children and adolescents diagnosed with ADHD. A protocol for the cardiovascular evaluation was established at a basal point, after the first and the second year of the beginning with treatment based on the monitoring of Blood pressure (BP) and echocardiographic follow-up of the systolic and diastolic functions, and structural cardiac properties. Results: 73 patients completed the study, with an average age of 9+/- 2.6 years, 75.3% were male and the majority were thin (64.4%). We found an increase in Systolic and Diastolic BP of 3.7±9mmHg (P).004) and 2±11,5mmHg respectively. There were no severe cardiovascular events. We didn’t find any echocardiographic alterations namely on the structural properties or parameters of systolic function. Regarding diastolic function, a significant increase in the isovolumic relaxation time (IVRT) (P=.046) and deceleration time (P=.016) was observed. However, no significant alterations in the parameters related to distensibility of the LV neither in the early diastolic pressure were found. Conclusion: Further studies are needed to evaluate the impact of psychostimulants as a modifiable long-term Cardiovascular Risk Factor.(AU)

The impact of methylphenidate treatment on the functional and structural properties of the left ventricle: A medium-term prospective study.

INTRODUCTION: Although methylphenidate (MPH) used for treatment of attention deficit hyperactivity disorder (ADHD) are considered safe in healthy children and adolescents in the short and medium term, there is a widespread concern about long-term cardiovascular safety. MATERIAL AND METHODS: Interventional, prospective, longitudinal and comparative study with a crossover design to evaluate the cardiovascular impact of the treatment with MPH in healthy children and adolescents diagnosed with ADHD. A protocol for the cardiovascular evaluation was established at a basal point, after the first and the second year of the beginning with treatment based on the monitoring of blood pressure (BP) and echocardiographic follow-up of the systolic and diastolic functions, and structural cardiac properties. RESULTS: 73 patients completed the study, with an average age of 9 ±â€¯2.6 years, 75.3% were male and the majority were thin (64.4%). We found an increase in Systolic and Diastolic BP of 3.7 ±â€¯9 mmHg (P = 0.004) and 2 ±â€¯11,5 mmHg respectively. There were no severe cardiovascular events. We didn't find any echocardiographic alterations namely on the structural properties or parameters of systolic function. Regarding diastolic function, a significant increase in the isovo-lumic relaxation time (IVRT) (P = 0.046) and deceleration time (P = 0.016) was observed. However, no significant alterations in the parameters related to distensibility of the LV neither in the early diastolic pressure were found. CONCLUSION: Further studies are needed to evaluate the impact of psychostimulants as a modifiable long-term Cardiovascular Risk Factor.

Foramina parietalia permagna: evaluación clínico radiológica de una familia española con mutación no descrita en el gen ALX4 / Foramina parietalia permagna: Clinical radiological evaluation of a Spanish family with an undescribed mutation in the Alx4 gene

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Chorea as the presenting feature of acute rheumatic fever in childhood; case reports from a low-prevalence European setting.

BACKGROUND: Despite a notable decrease in acute rheumatic fever (ARF) incidence in the past few decades, there are still cases in our setting. Sydenham chorea (SC) may be the initial manifestation for this condition in childhood in a significant proportion of children. We report two cases of choreoathetosis in children as the first manifestation of ARF. CASE PRESENTATION: A previously healthy 8-year-old boy presented with right hemichorea with a predominance in the brachial region, orofacial dyskinesias and speech difficulties for the past 2 weeks. The only medical history of interest was a common catarrhal illness 3 weeks before and nonspecific bilateral tenosynovitis in both feet since a year prior. A brain computerized tomography was normal and the echocardiogram showed mild mitral and aortic regurgitation, meeting ARF criteria. He demonstrated clinical improvement with treatment based on prednisone and carbamazepine. The second patient was a 10-year-old girl with choreic movements of the right half of the body and repetitive right eye closure of 1 week duration. She had symptoms of fever and rash the previous week and pharyngitis that resolved without antibiotic 2 months before. Blood tests revealed elevated C reactive protein (12 mg/dl) and erythrocyte sedimentation rate (96 mm/h). Brain magnetic resonance was normal and echocardiogram showed left ventricle dilation and mild mitral regurgitation, leading to the diagnosis of ARF. Due to neurological involvement, she received corticosteroids and intravenous immunoglobulin treatment, with worsening of neurological symptoms that required valproic acid with remission of the hemichorea. In addition skin lessions compatible with erythema marginatum appeared on the upper limbs. CONCLUSIONS: SC should be the main diagnostic consideration in cases of hemichorea with normal neuroimaging in children. The cases reported highlight the need to maintain a high index of suspicion even in settings where incidende of ARF is low and the need to perform cardiological investigations in all patients with suspected SC, due to the possibility of subclinical valve lesions. Good adherence to secondary prophylaxis is crucial to avoid chorea relapses and worsening valve disease.

[The impact of methylphenidate treatment on the functional and structural properties of the left ventricle: A medium-term prospective study]. / Impacto del tratamiento con metilfenidato sobre las propiedades funcionales y estructurales del ventrículo izquierdo a medio plazo en el trastorno por déficit de atención e hiperactividad.

INTRODUCTION: Although methylphenidate (MPH) used for treatment of Attention deficit hyperactivity disorder (ADHD) are considered safe in healthy children and adolescents in the short and medium term, there is a widespread concern about long-term cardiovascular safety. MATERIAL AND METHODS: Interventional, prospective, longitudinal and comparative study with a crossover design to evaluate the cardiovascular impact of the treatment with MPH in healthy children and adolescents diagnosed with ADHD. A protocol for the cardiovascular evaluation was established at a basal point, after the first and the second year of the beginning with treatment based on the monitoring of Blood pressure (BP) and echocardiographic follow-up of the systolic and diastolic functions, and structural cardiac properties. RESULTS: 73 patients completed the study, with an average age of 9+/- 2.6 years, 75.3% were male and the majority were thin (64.4%). We found an increase in Systolic and Diastolic BP of 3.7±9mmHg (P).004) and 2±11,5mmHg respectively. There were no severe cardiovascular events. We didn't find any echocardiographic alterations namely on the structural properties or parameters of systolic function. Regarding diastolic function, a significant increase in the isovolumic relaxation time (IVRT) (P=.046) and deceleration time (P=.016) was observed. However, no significant alterations in the parameters related to distensibility of the LV neither in the early diastolic pressure were found. CONCLUSION: Further studies are needed to evaluate the impact of psychostimulants as a modifiable long-term Cardiovascular Risk Factor.

Impacto psicológico del confinamiento en población infantil y cómo mitigar sus efectos: revisión rápida de la evidencia / Sychological impact of lockdown (confinement) on young children and how to mitigate its effects: rapid review of the evidence

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Valoración de la 'neurofobia' o 'analfabetismo neurológico' como causa del aumento asistencial en neurología infantil / Assessment of 'neurophobia' or 'neurological illiteracy' as cause of increased assistance in child neurology

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Situación actual de la demanda asistencial en neuropediatría. Características de la consulta y comparación con otras especialidades pediátricas / Current situation of the demand for health care in neuropaediatrics. Characteristics of consultations and comparison with other paediatric specialties

Introducción. En los últimos años parecemos asistir a una creciente demanda asistencial en neuropediatría. Los estudios epidemiológicos son necesarios para dar a conocer dicha demanda y así favorecer una adecuada gestión de los recursos sanitarios. Objetivo. Conocer el peso proporcional de las consultas de neuropediatría en el global de las consultas pediátricas en nuestro hospital, la tasa anual de consulta en neurología infantil por cada 1.000 habitantes menores de 14 años y las características de dicha consulta (datos demográficos, motivos de consulta y otras). Pacientes y métodos. Estudio retrospectivo, descriptivo, sobre la actividad asistencial de consultas pediátricas y neuropediátricas en un hospital público de nivel II en el sur de Madrid, durante el período 2008-2012. Resultados. Desde la apertura de nuestro centro, las consultas de pediatría han experimentado un marcado crecimiento, siendo las de neuropediatría las más demandadas, ya que en el año 2012 atendieron a un total de 2.129 pacientes (718 primeras consultas), con un índice de sucesiva/primera consulta de 1,96. En neuropediatría, se atendieron el 23,49% de todas las consultas pediátricas realizadas en el hospital. La tasa media de primeras consultas en el período de estudio fue de 72,86/1.000 niños. Los principales motivos de consulta fueron los problemas de aprendizaje/trastornos de conducta (24,1%), seguidos de cefalea (21,9%), episodios paroxísticos (14,8%) y retraso del desarrollo psicomotor (9%). Conclusiones. El incremento en la demanda asistencial de la neuropediatría ha resultado claramente superior al de las otras especialidades pediátricas que llevan en funcionamiento el mismo período. En los cinco años de estudio, la tasa de primeras visitas se ha triplicado. Esta sobrecarga asistencial podría condicionar la atención a los pacientes con patología neurológica grave. Serían necesarios estudios similares en diferentes regiones para conocer la realidad de la neuropediatría española (AU)

Introduction. In recent years it seems we are witnessing an increasing demand for neuropaediatric care. Epidemiological studies are needed to make this demand more widely known and thus promote appropriate management of health care resources. Aims. To determine what proportion of all visits to the paediatric department in our hospital are neuropaediatric consultations, the annual consultation rate in child neurology per 1,000 inhabitants under 14 years of age, and the characteristics of that consultation (demographic data, reasons for the visit and others). Patients and methods. We conducted a retrospective, descriptive study on the health care activity of paediatric and neuropaediatric units in a level-II public hospital in the south of Madrid, over the period 2008-2012. Results. Since our centre opened, the number of paediatric consultations has increased sharply, neuropaediatric visits being the most frequently demanded. In the year 2012 a total of 2,129 patients were seen (718 first visits), with a successive/first visit index of 1.96. Of all the paediatric consultations carried out in the hospital, 23.49% took place in neuropaediatrics. The mean rate of first visits in the period under study was 72.86/1,000 children. The main reasons for the consultation were learning disabilities/conduct disorders (24.1%), followed by headaches (21.9%), paroxysmal episodes (14.8%) and delayed psychomotor development (9%). Conclusions. The increase in demand for neuropaediatrics health care was clearly higher than that of other paediatric specialities over the same period of time. In the five years included in the study, the rate of first visits increased threefold. This health care overload could condition the care dispensed to patients with severe neurological pathologies. Further studies of a similar nature in different regions are required to determine the real situation of neuropaediatrics in Spain (AU)

Infant botulism in Andalusia (Southern Spain).

BACKGROUND: Infant botulism (IB) is caused by the intestinal colonization by Clostridium botulinum in the first year of life and its subsequent production of neurotoxins. Traditionally, IB has been associated to honey consumption. IB cases tend to cluster in geographic regions. In Europe, IB is a rare disorder. From 1976 through 2006, 65 cases were identified in 13 European countries. In Spain, in the last 15 years, most of the cases have been reported in one region, Andalusia (Southern Spain). A specific treatment for IB type A and type B (BabyBIG) is available outside of the United States since 2005. METHODS: and aims: We performed a retrospective review of IB cases detected in Andalusia since 1997 and compare them with the cases of IB reported in Europe. RESULTS: We identified 11 confirmed cases of IB in Andalusia since 1997, and 14 cases in Spain. Nine out of 11 cases were detected since 2007; none of these infants had been exposed to honey consumption. One case in 1997 and another in 2000 were associated to honey. Two cases were treated with BabyBIG in 2007. In the period 2006-2012 the cases of IB reported in Europe were 54. CONCLUSIONS: We identified a considerable increase in the incidence of IB since 2006. A tendency to a reduction in the number of cases of IB linked to honey consumption has also been identified. An increase in the exposure to these bacteria from the environment could be presumed. Clinicians should maintain a high index of suspicion for this treatable disorder.

[Wolf-Hirschhorn syndrome. A series of 27 patients: their epidemiological and clinical characteristics. The current situation of the patients and the opinions of their caregivers regarding the diagnostic process]. / Sindrome de Wolf-Hirschhorn. Serie de 27 pacientes: caracteristicas epidemiologicas y clinicas. Situacion actual de los pacientes y opinion de sus cuidadores respecto al proceso diagnostico.

INTRODUCTION: Wolf-Hirschhorn syndrome (WHS) is a chromosome pathology produced by a deletion in the distal region of the short arm of chromosome 4. It is characterised by the presence of a peculiar phenotype, delayed growth, delayed psychomotor development and epilepsy. AIMS: To describe the characteristics of a series of children with WHS, including the mean amount of time spent on reaching the diagnosis, and to evaluate the opinion of the families about the diagnostic process. PATIENTS AND METHODS: The researchers contacted the National WHS Association and, through them, contact was established with 29 families affected by the condition. Information was collected about the clinical features of the child and the opinion about the diagnostic process, and the families were asked to present medical reports that confirmed the information they had given. Once a database of information about the patients had been created, it was submitted to a statistical analysis. RESULTS: Information was obtained on 27 families. The mean age of the patients is currently 6.94 ± 6.37 years. The mean age of diagnosis was 14.34 months. Delayed intrauterine growth exists in 92.6% of the pregnancies. Epilepsy is present in 92.6% of patients, 44.4% of them in monotherapy. Delayed psychomotor/cognitive development exists in all the patients. Thirty-three per cent of them can walk unaided. The parents rated the treatment offered by physicians with a mean score of 7.25 ± 2.17 and the information they were provided with was given a score of 6.29 ± 2.11. CONCLUSIONS: No references have been found regarding the mean age of diagnosis for WHS. In our sample there are important variations in this respect, possibly influenced by the phenotype of the case and the doctor's own experience. The clinical characteristics are similar to the ones that were expected. The estimated degree of dependence is high and, in contrast, the quality of the information received by the family is low.

TITLE: Sindrome de Wolf-Hirschhorn. Serie de 27 pacientes: caracteristicas epidemiologicas y clinicas. Situacion actual de los pacientes y opinion de sus cuidadores respecto al proceso diagnostico.Introduccion. El sindrome de Wolf-Hirschhorn (SWH) es una cromosomopatia producida por una delecion en la region distal del brazo corto del cromosoma 4. Se caracteriza por la presencia de un fenotipo peculiar, retraso en el crecimiento, retraso del desarrollo psicomotor y epilepsia. Objetivos. Describir las caracteristicas de una serie de niños con SWH, incluido el tiempo medio empleado para el diagnostico, y valorar la opinion de las familias sobre el proceso diagnostico. Pacientes y metodos. Se contacto con la Asociacion Nacional de SWH y, a traves de ella, con 29 familias afectadas. Se recogio informacion sobre la clinica del niño y la opinion sobre el proceso diagnostico, y se solicitaron informes medicos que confirmaran la informacion facilitada. Constituida una base de datos de pacientes, se procedio a su analisis estadistico. Resultados. Se obtuvo informacion de 27 familias. Los pacientes presentan una edad media actual de 6,94 ± 6,37 años. La edad media de diagnostico fue de 14,34 meses. Existe retraso del crecimiento intrauterino en el 92,6% de los embarazos. Un 92,6% de los pacientes presenta epilepsia, el 44,4% de ellos en monoterapia. Existe retraso del desarrollo psicomotor/cognitivo en todos los pacientes. Camina sin ayuda el 33%. Los padres califican con una nota media de 7,25 ± 2,17 el trato ofrecido por los facultativos y de 6,29 ± 2,11 la informacion recibida. Conclusiones. No se han encontrado referencias a la edad media de diagnostico para el SWH. En nuestra muestra, existen variaciones importantes en este aspecto, posiblemente condicionadas por el fenotipo del caso y la experiencia del medico. Las caracteristicas clinicas son similares a las esperadas. El grado de dependencia estimado es alto y la calidad de la informacion recibida por la familia, baja.

Síndrome de Wolf-Hirschhorn. Serie de 27 pacientes: características epidemiológicas y clínicas. Situación actual de los pacientes y opinión de sus cuidadores respecto al proceso diagnóstico / Wolf-Hirschhorn syndrome. A series of 27 patients: their epidemiological and clinical characteristics. The current situation of the patients and the opinions of their caregivers regarding the diagnostic process

Introducción. El síndrome de Wolf-Hirschhorn (SWH) es una cromosomopatía producida por una deleción en la región distal del brazo corto del cromosoma 4. Se caracteriza por la presencia de un fenotipo peculiar, retraso en el crecimiento, retraso del desarrollo psicomotor y epilepsia. Objetivos. Describir las características de una serie de niños con SWH, incluido el tiempo medio empleado para el diagnóstico, y valorar la opinión de las familias sobre el proceso diagnóstico. Pacientes y métodos. Se contactó con la Asociación Nacional de SWH y, a través de ella, con 29 familias afectadas. Se recogió información sobre la clínica del niño y la opinión sobre el proceso diagnóstico, y se solicitaron informes médicos que confirmaran la información facilitada. Constituida una base de datos de pacientes, se procedió a su análisis estadístico. Resultados. Se obtuvo información de 27 familias. Los pacientes presentan una edad media actual de 6,94 ± 6,37 años. La edad media de diagnóstico fue de 14,34 meses. Existe retraso del crecimiento intrauterino en el 92,6% de los embarazos. Un 92,6% de los pacientes presenta epilepsia, el 44,4% de ellos en monoterapia. Existe retraso del desarrollo psicomotor/cognitivo en todos los pacientes. Camina sin ayuda el 33%. Los padres califican con una nota media de 7,25 ± 2,17 el trato ofrecido por los facultativos y de 6,29 ± 2,11 la información recibida. Conclusiones.No se han encontrado referencias a la edad media de diagnóstico para el SWH. En nuestra muestra, existen variaciones importantes en este aspecto, posiblemente condicionadas por el fenotipo del caso y la experiencia del médico. Las características clínicas son similares a las esperadas. El grado de dependencia estimado es alto y la calidad de la información recibida por la familia, baja (AU)

Introduction. Wolf-Hirschhorn syndrome (WHS) is a chromosome pathology produced by a deletion in the distal region of the short arm of chromosome 4. It is characterised by the presence of a peculiar phenotype, delayed growth, delayed psychomotor development and epilepsy. Aims. To describe the characteristics of a series of children with WHS, including the mean amount of time spent on reaching the diagnosis, and to evaluate the opinion of the families about the diagnostic process. Patients and methods. The researchers contacted the National WHS Association and, through them, contact was established with 29 families affected by the condition. Information was collected about the clinical features of the child and the opinion about the diagnostic process, and the families were asked to present medical reports that confirmed the information they had given. Once a database of information about the patients had been created, it was submitted to a statistical analysis. Results. Information was obtained on 27 families. The mean age of the patients is currently 6.94 ± 6.37 years. The mean age of diagnosis was 14.34 months. Delayed intrauterine growth exists in 92.6% of the pregnancies. Epilepsy is present in 92.6% of patients, 44.4% of them in monotherapy. Delayed psychomotor/cognitive development exists in all the patients. Thirty-three per cent of them can walk unaided. The parents rated the treatment offered by physicians with a mean score of 7.25 ± 2.17 and the information they were provided with was given a score of 6.29 ± 2.11. Conclusions. No references have been found regarding the mean age of diagnosis for WHS. In our sample there are important variations in this respect, possibly influenced by the phenotype of the case and the doctor’s own experience. The clinical characteristics are similar to the ones that were expected. The estimated degree of dependence is high and, in contrast, the quality of the information received by the family is low (AU)