The Development and Content Validation of a Clinical Screening Scale to Identify Attention-Deficit Hyperactivity Disorder Cases Based on the Gender Perspective: An e-Delphi Study.

BACKGROUND: Although many studies analyse gender differences in the clinical expression of Attention-Deficit Hyperactivity Disorder (ADHD) and prevalence studies show that girls with ADHD are underdiagnosed, there are no instruments that are sensitive to the detection of girls with ADHD. OBJECTIVE: The objective of this study is to develop a self-report early detection instrument for boys and girls with ADHD aged 7 to 16, which includes the gender perspective and is sensitive to the detection of girls with ADHD. METHODS: The scale was developed and the items that comprised it were created from the thematic analysis of ADHD and its evaluation in children based on the diagnostic criteria of the DSM-5-TR. A modified e-Delphi method involving a three-round web survey was used to establish a consensus on the content of the scale. Ten experts were recruited to form a professional panel. The panel members were asked to assess the differential symptomatology of ADHD in boys and girls, the dimensions to be evaluated, and the importance of scale items to evaluate the content. RESULTS: A consensus was reached regarding 13 total items distributed in three dimensions: inattention; hyperactivity/impulsivity; and, a third dimension, internalisation, which includes symptoms most present in the expression of ADHD in girls. CONCLUSIONS: To the best of our knowledge, the development of this scale using the Delphi method is the first specific scale used for identifying ADHD that also addresses the gender perspective and the differential symptomatology between boys and girls. However, we must proceed to the analysis of psychometric properties, as the scale requires an exhaustive study of its reliability and validity. We can anticipate that this scale will provide relevant and reliable information that can be used for the identification of ADHD in both boys and girls.

Executive function and general intellectual functioning in dyskinetic cerebral palsy: Comparison with spastic cerebral palsy and typically developing controls.

AIM: To comprehensively describe intellectual and executive functioning (EF) in people with dyskinetic cerebral palsy (DCP), by comparing their performance with that of: 1) age- and sex-matched typically developing controls (TDC); and 2) participants with spastic cerebral palsy (SCP) matched for age, sex, term/preterm and gross motor function classification system (GMFCS). METHOD: This cross-sectional study was conducted by the University of Barcelona in collaboration with five institutions. Participants were people with DCP (n = 52; 24 females, median age 20.5 y: 5mo, interquartile range [IQR] = 13.75 y: 7mo; GMFCS I-V). As comparison groups, participants with SCP (n = 20; 10 females, median age = 20.5 y: 5.5mo, IQR = 13.75 y 9mo; GMFCS I-V) and TDC (n = 52; 24 females, median age = 20 y: 4mo, IQR = 12 y 7mo) were included. Intelligence and EF were assessed using common tests in all participants. RESULTS: Both CP groups had lower intelligence than TDC and performed poorer in almost all EF tasks. Intelligence was higher in DCP than SCP (z = -2.51, p = 0.01). Participants with DCP also performed significantly better in goal-setting tasks (z = 2.27, p = 0.03) and information processing (z = -2.54, p = 0.01) than those with SCP. CONCLUSION: People with DCP present lower general intellectual functioning and poorer EF across multiple domains than typically developing controls. People with DCP have higher general intellectual functioning and better EF than people with SCP when levels of motor severity are similar.

Experiencia en la utilización de lisdexanfetamina en el manejo del TDAH de niños y adolescentes / Experience in the use of lisdexamfetamine in the management of ADHD of children and adolescents

INTRODUCCIÓN: El trastorno por déficit atencional e hiperactividad (TDAH) constituye uno de los trastornos más frecuentes del neurodesarrollo, con una prevalencia estimada a nivel mundial de aproximadamente el 5% [1,2]. Hasta hace pocos años, las opciones farmacológicas utilizadas en España para el tratamiento del TDAH estaban circunscritas básicamente al metilfenidato en sus diferentes presentaciones (MFD), y a la Atomoxetina (ATX). Desde el año 2014 disponemos en nuestro arsenal terapéutico del dimesilato de lisdexanfetamina (LDX); que es el primer psicoestimulante de larga duración con tecnología de profármaco, aprobado para su uso en España en niños en los que ha habido una inadecuada respuesta al tratamiento con metilfenidato, a partir de los 6 años de vida. Con el advenimiento de la Guanfancina en 2016, hemos asistido a una ampliación considerable del abanico de opciones terapéuticas farmacológicas disponibles a nuestro alcance, posibilitando de esta manera un control más efectivo de los síntomas nucleares del TDAH. OBJETIVOS: El principal objetivo de este trabajo se centra en la descripción y caracterización de una población de niños y adolescentes con diagnóstico de TDAH, en los que se realizó ensayo terapéutico con LDX. En base a los resultados obtenidos y a la revisión de la bibliografía, se presentan los diferentes "escenarios" en los cuales el uso de LDX ha demostrado ser de especial utilidad en el manejo de niños y adolescentes con TDAH. Material y MÉTODOS: Se llevó a cabo un estudio longitudinal y descriptivo, en el cual se revisaron por un lado las diferentes respuestas obtenidas con LDX en función de las características clínicas de la población objeto de análisis (niños y adolescentes de entre 6 y 18 años con diagnóstico de TDAH, previamente expuestos a diferentes pautas de MFD y/o ATX), así como el perfil de tolerabilidad y de efectos secundarios presentados. RESULTADOS: Se incluyeron en el trabajo 200 pacientes (n=200), de los cuales 140 fueron varones y 60 niñas (relación varón/niñas 2.3), con un rango de edades comprendido entre los 6 y los 18 años, y una media de edad de 15 años. De los 200 pacientes incluidos, 178 (89%) presentaron una respuesta buena o muy buena, mientras que los 22 restantes (11%) tuvieron una inadecuada respuesta y/o una tasa de efectos secundarios que motivaron la suspensión del tratamiento con LDX. Los que mejor respondieron al cambio a LDX fueron aquellos individuos en los que existía una respuesta previa parcial a diferentes pautas farmacológicas, en los que necesitaban múltiples tomas de MFD para obtener una mejor cobertura a lo largo del día, o en los que existían efectos indeseables sobre el "carácter" (especialmente en adolescentes sin otras comorbilidades asociadas). El 89% de los pacientes presentaron efectos secundarios de intensidad leve-moderada (en la línea de los ya descriptos con los psicoestimulantes), con tendencia a mejorar o desaparecer con el paso del tiempo. No se evidenciaron efectos secundarios graves en la serie analizada. CONCLUSIONES: Existe un perfil clínico de pacientes con diagnóstico de TDAH en los cuales el uso de LDX parece mostrar un alto perfil de eficacia, con una adecuada tolerabilidad a corto, mediano y largo plazo; y una aceptable tasa de efectos secundarios

INTRODUCTION: Attention deficit hyperactivity disorder (ADHD) is one of the most frequent neurodevelopmental disorders, with an estimated worldwide prevalence of approximately 5% [1,2]. Until a few years ago, the pharmacological options in Spain for the treatment of ADHD were basically confined to methylphenidate in its different presentations (MFD), and to Atomoxetine (ATX). Since 2014 we have in our therapeutic arsenal the lisdexanfetamine dimesylate (LDX); which is the first long-term psychostimulant with prodrug technology, approved for use in Spain in children in whom there has been an inadequate response to treatment with methylphenidate, from 6 years of age. With the advent of guanfancine in 2016, we have witnessed a considerable expansion of the range of pharmacological therapeutic options available to us, thus enabling a more effective control of the core symptoms of ADHD. OBJECTIVES: The main objective of this work focuses on the description and characterization of a population of children and adolescents diagnosed with ADHD, in which a LDX therapeutic trial was conducted. Based on the results obtained and the review of the literature, the different "scenarios" are presented in which the use of LDX has proved to be especially useful in the management of children and adolescents with ADHD. MATERIAL AND METHODS: A longitudinal and descriptive study was carried out, in which the different responses obtained with LDX were reviewed on the one hand according to the clinical characteristics of the population under analysis (children and adolescents between 6 and 18 years old). with a diagnosis of ADHD, previously exposed to different MFD and / or ATX guidelines), as well as the tolerability profile and side effects presented. RESULTS: 200 patients were included in the study (n = 200), of which 140 were males and 60 girls (relation between males / girls 2.3), with a range of ages between 6 and 18 years, and an average of age of 15 years. Of the 200 patients included, 178 (89%) had a good or very good response, while the remaining 22 (11%) had an inadequate response and / or a rate of side effects that led to the suspension of treatment with LDX. Those who responded best to the change to LDX were those individuals in whom there was a partial prior response to different pharmacological guidelines, in which they needed multiple doses of MFD to obtain better coverage throughout the day, or in which there were undesirable effects. about "character" (especially in adolescents without other associated comorbidities). 89% of the patients presented side effects of mildmoderate intensity (in line with those already described with psychostimulants), with a tendency to improve or disappear with the passage of time. There were no serious side effects in the series analyzed. CONCLUSIONS: There is a clinical profile of patients diagnosed with ADHD in whom the use of LDX seems to show a high efficacy profile, with adequate tolerability in the short, medium and long term; and an acceptable rate of side effects

Measuring intellectual ability in cerebral palsy: The comparison of three tests and their neuroimaging correlates.

Standard intelligence scales require both verbal and manipulative responses, making it difficult to use in cerebral palsy and leading to underestimate their actual performance. This study aims to compare three intelligence tests suitable for the heterogeneity of cerebral palsy in order to identify which one(s) could be more appropriate to use. Forty-four subjects with bilateral dyskinetic cerebral palsy (26 male, mean age 23 years) conducted the Raven's Coloured Progressive Matrices (RCPM), the Peabody Picture Vocabulary Test-3rd (PPVT-III) and the Wechsler Nonverbal Scale of Ability (WNV). Furthermore, a comprehensive neuropsychological battery and magnetic resonance imaging were assessed. The results show that PPVT-III gives limited information on cognitive performance and brain correlates, getting lower intelligence quotient scores. The WNV provides similar outcomes as RCPM, but cases with severe motor impairment were unable to perform it. Finally, the RCPM gives more comprehensive information on cognitive performance, comprising not only visual but also verbal functions. It is also sensitive to the structural state of the brain, being related to basal ganglia, thalamus and white matter areas such as superior longitudinal fasciculus. So, the RCPM may be considered a standardized easy-to-administer tool with great potential in both clinical and research fields of bilateral cerebral palsy.

[Dissections of craniocervical arteries in the paediatric age: a pathology that is emerging or under-diagnosed?]. / Disecciones arteriales craneocervicales en la edad pediátrica: una patología emergente o infradiagnosticada?

INTRODUCTION: Cranio-cervical arterial dissections are a recognized cause of ischemic stroke in childhood, with an approximate incidence of 0.4 to 20%. AIM. To describe a population of children with cranio-cervical arterial dissections, analyzing clinical presentation, risk factors, angiographic findings, evolution and treatment. PATIENTS AND METHODS: A descriptive, retrospective, longitudinal collaborative review (Sant Joan de Deu and Pereira Rossell Children's Hospital), of children one month to 17 years old of age was conducted, during the period of time between 2000 to 2009. RESULTS: Ten cases with arterial dissection were identified, 7 of them were boys and 3 girls. Nine had a traumatism preceding neurological symptoms. Clinical presentation included 5 patients with hemiparesis, 3 with hemicerebelus syndrome, 1 with VI cranial nerve palsy and 1 with intracranial soplus as the only symptom at physical examination. Three of them had seizures, while headache preceding the onset of cerebral ischemic symptoms was founded in 6 of them. Dissection involved anterior circulation in 5 patients and posterior circulation in the other 5. In reference to the localization of arterial compromise 4 patients had intracranial dissections and 6 had extracranial dissections. Anticoagulation therapy was done in 5, antiagregation in 3, and treatment abstention in two. None of them suffered neither complications due to anticoagulation therapy nor dead or recurrent dissections in long term follow up (2 months to 8 years). CONCLUSIONS: Cranio-cervical dissections are a frequent cause of stroke in childhood. Clinical suspicious related to cranio-cervical traumatisms and subsequent neurological symptoms should be high.

Disecciones arteriales craneocervicales en la edad pediátrica: ¿una patología emergente o infradiagnosticada? / Dissections of craniocervical arteries in the paediatric age: a pathology that is emerging or under-diagnosed?

Introducción. Las disecciones craneocervicales constituyen una reconocida causa de ictus en la infancia y adolescencia, y son responsables del 0,4-20% del total de casos. Objetivo. Describir una población de niños con disecciones arteriales, analizando su presentación clínica, factores de riesgo, signos angiográficos, evolución y tratamiento. Pacientes y métodos. Se llevó a cabo un estudio descriptivo, retrospectivo y colaborativo (Hospital Sant Joan de Déu de Barcelona y Centro Hospitalario Pereira Rossell de Montevideo), durante los años 2000 a 2009, de niños entre 1 mes a 17 años, con disecciones arteriales craneocervicales. Resultados. Se identificaron 10 casos con diagnóstico de disección arterial, siete varones y tres niñas. Nueve presentaron traumatismo previo al inicio de los síntomas neurológicos. Del total de pacientes, cinco comenzaron con hemiparesia, tres con síndrome hemicerebeloso, uno con afectación del VI par, y uno con soplo craneal. De éstos, tres tuvieron convulsiones y seis cefaleas que precedieron al cuadro clínico. El deterioro de la circulación anterior tuvo lugar en cinco niños, y l de la posterior en los otros cinco. Cuatro pacientes presentaron afectación arterial intracraneal, y seis, extracraneal. Se realizó anticoagulación en cinco pacientes, antiagregación en tres y no se trataron los dos restantes. No hubo fallecimientos, complicaciones por la anticoagulación, ni recurrencias en el período de seguimiento clínico. Conclusiones. Las disecciones craneocervicales son una causa frecuente de ictus en la infancia. La sospecha clínica debe ser alta ante todo paciente con sintomatología focal neurológica en relación con un traumatismo craneocervical (AU)

Introduction. Cranio-cervical arterial dissections are a recognized cause of ischemic stroke in childhood, with an approximate incidence of 0.4 to 20%. Aim. To describe a population of children with cranio-cervical arterial dissections, analyzing clinical presentation, risk factors, angiographic findings, evolution and treatment. Patients and methods. A descriptive, retrospective, longitudinal collaborative review (Sant Joan de Déu and Pereira Rossell Children’s Hospital), of children one month to 17 years old of age was conducted, during the period of time between 2000 to 2009. Results. Ten cases with arterial dissection were identified, 7 of them were boys and 3 girls. Nine had a traumatism preceding neurological symptoms. Clinical presentation included 5 patients with hemiparesis, 3 with hemicerebelus syndrome, 1 with VI cranial nerve palsy and 1 with intracranial soplus as the only symptom at physical examination. Three of them had seizures, while headache preceding the onset of cerebral ischemic symptoms was founded in 6 of them. Dissection involved anterior circulation in 5 patients and posterior circulation in the other 5. In reference to the localization of arterial compromise 4 patients had intracranial dissections and 6 had extracranial dissections. Anticoagulation therapy was done in 5, antiagregation in 3, and treatment abstention in two. None of them suffered neither complications due to anticoagulation therapy nor dead or recurrent dissections in long term follow up (2 months to 8 years). Conclusions. Cranio-cervical dissections are a frequent cause of stroke in childhood. Clinical suspicious related to craniocervical traumatisms and subsequent neurological symptoms should be high (AU)

Acquired neuromyotonia in childhood: case report and review.

Recently characterized as an immune-mediated channelopaty, Isaacs' syndrome (also known as acquired neuromyotonia) was first described in 1961 in two men with persistent, generalized muscle stiffness, in addition to spontaneous, rapid discharges of motor-unit potentials on electromyography. In the peripheral nervous system, antibodies targeted to voltage-gated potassium channels induce hyperexcitability of motor axons, resulting in signs of muscle stiffness or of pseudomyotonia. A spontaneous burst of single motor-unit activity, and myokymic and neuromyotonic discharges, are the most characteristic features found in electromyography studies. This report describes Isaacs' syndrome in a child, in whom the diagnosis was made by clinical features of acquired, spontaneous muscle overactivity and typical electromyographic findings.

Bilateral segmental neurofibromatosis: a case report and review.

Bilateral segmental neurofibromatosis is a rare condition characterized by the occurrence of neurofibromas and/or café-au-lait spots limited to an area or segment of the body bilaterally. It is caused by a postzygotic mutation in the neurofibromatosis type I gene, resulting in a phenotype of genetic mosaicism. This report describes a case of bilateral segmental neurofibromatosis with multiple nodules sitting on a café-au-lait spot.

Hemoptisis en la infancia: Un desafío diagnóstico-terapéutico para el pediatra: A propósito de dos casos clínicos / Hemoptysis in childhood: A diagnosis and therapeutic challenge to the pediatrician: About two clinical cases

Se presentan los casos clínicos de dos niños previamente sanos con hemoptisis sin repercusión hemodinámica, en quienes se arribó al diagnóstico de malformación arteriovenosa mediante arteriografía. Se realizó tratamiento médico mediante embolización del lecho vascular patológico, siendo favorable la evolución clínica, con resolución de la enfermedad subyacente y alta temprana a domicilio, sin complicaciones. La arteriografía permitió realizar un diagnóstico temprano, así como la prevención de nuevas complicaciones.

Two cases of previously healthy children who suffered hemoptysis without hemodynamic compromise are presented. An underlying arteriovenous malformation by arteriography was identified in both cases. Endovascular treatment was performed using selective bronchial artery embolectomy of the anomalous vessels with an excellent recovery of both patients with no further complications. Arteriography played a vital role in early diagnosis and treatment avoiding new complications.

Déficit de succínico semialdehído deshidrogenasa: Primer caso de aciduria 4 OH butírica en Uruguay

Resumen El déficit de succínico semialdehído deshidrogenasa es una enfermedad rara cuya alteración en la vía catabólica del ácido aminobutírico (principal neurotransmisor del sistema nervioso central) impide el paso de ácido succínico semialdehído a ácido succínico, condicionando un aumento de ácido 4 hidroxibutírico en líquido cefalorraquídeo y plasma, lo que permite la detección de la enfermedad. La clínica es muy inespecífica, pudiendo presentar desde retraso psicomotor, hipotonía, convulsiones y ataxia no progresiva, hasta trastornos de conducta con crisis de ansiedad y rasgos autistas. Los hallazgos a nivel electroencefalográfico incluyen enlentecimiento del ritmo de base, con descargas epileptiformes focales o generalizadas. En la neuroimagen, en tanto, pueden hallarse frecuentemente hiperintensidades bilaterales y simétricas en T2, a nivel del núcleo pálido. Si bien el tratamiento con vigabatrina teóricamente inhibe la formación de succínico semialdehído con la consecuente reducción de los niveles de ácido 4 hidroxibutírico, no existe al momento actual un tratamiento efectivo para todos los casos. El principal objetivo de este artículo es presentar un paciente con deficiencia de succínico semialdehído deshidrogenasa, debido a su excepcionalidad, con solamente 350 casos identificados en el mundo, siendo el primer caso diagnosticado en Uruguay.

Summary Succinic semialdehyde dehydrogenase deficiency is a rare disorder of the catabolic pathway of gamma-aminobutyric acid, the major central nervous system inhibitory neurotransmitter. Because of such deficiency, transamination of gamma-aminobutyric acid to succinic semialdehyde is shunted towards the production of 4-hydroxybutyric acid, a neurotoxic metabolite which becomes abundant in physiologic fluids which allows the detection of the disorder. Clinical features are not specific and consist of psychomotor retardation, seizures, hypotonia and non progressive ataxia. Electroencephalographic finding include background slowing and generalized or focal epileptiform discharges. Magnetic resonance imaging reveals in most of the cases, increased T2-weighted signal of the globus pallidi bilaterally and symmetrically. Eventhough vigabatrin should theoretically inhibit the formation of succinic semialdehyde and therefore 4-hydroxybutyric acid, to date there is no effective treatment for succinic semialdehyde dehydrogenase deficiency. Due to its uniqueness, the main objective of this article is to present a patient with succinic semialdehyde dehydrogenase deficiency, with only 350 cases identified worldwide.