Mutación de novo en KAT6B, síndrome Say-Barber-Biesecker-Young-Simpson y trastorno específico del lenguaje / De novo KAT6B mutation, Say-Barber-Biesecker-Young-Simpson syndrome, and specific language impairment

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[Neurodevelopment and phenocopies of attention deficit hyperactivity disorder: differential diagnosis]. / Neurodesarrollo y fenocopias del trastorno por deficit de atencion/hiperactividad: diagnostico diferencial.

INTRODUCTION: Attention deficit hyperactivity disorder (ADHD) is one of the most prevalent neurodevelopmental disorders. Other neurodevelopmental disorders may appear as a comorbidity or mimicking ADHD itself. DEVELOPMENT: This study reviews the high prevalence of other neurodevelopmental disorders (specific learning difficulties, communication disorders, etc.) in patients with ADHD. Moreover, the possible differential diagnoses include the same neurodevelopmental disorders that can occur as a comorbidity. Based on the literature, the study evaluates the role of clinical evaluation and neuropsychology in distinguishing between comorbidity and mimicry. CONCLUSIONS: The clinical evaluation could be insufficient for the comorbid diagnosis of neurodevelopmental disorders. In these cases, a neuropsychological evaluation is generally required, since it can also offer alternative diagnostic hypotheses about the symptoms observed and may therefore be a valuable aid for the differential diagnosis.

TITLE: Neurodesarrollo y fenocopias del trastorno por deficit de atencion/hiperactividad: diagnostico diferencial.Introduccion. El trastorno por deficit de atencion/hiperactividad (TDAH) es uno de los trastornos del neurodesarrollo mas prevalentes. Otros trastornos del neurodesarrollo pueden aparecer de forma comorbida o mimetizar el propio TDAH. Desarrollo. Se revisa la elevada prevalencia de otros trastornos del neurodesarrollo (trastornos especificos del aprendizaje, trastornos de la comunicacion...) en los pacientes con TDAH. Por otro lado, entre los posibles diagnosticos diferenciales se situan los mismos trastornos del neurodesarrollo que pueden aparecer de forma comorbida. Se valorara, de acuerdo a la bibliografia, el papel de la valoracion clinica y la neuropsicologia en la distincion entre comorbilidad y mimetismo. Conclusiones. La valoracion clinica podria ser insuficiente para el diagnostico comorbido de los trastornos del neurodesarrollo. En estos casos, la valoracion neuropsicologica es generalmente necesaria; esta puede igualmente ofrecer hipotesis diagnosticas alternativas de la sintomatologia observada y, por tanto, ser util para el diagnostico diferencial.

[Attention deficit hyperactivity disorder: from a neurodevelopmental perspective]. / Trastorno por deficit de atencion/hiperactividad: perspectiva desde el neurodesarrollo.

INTRODUCTION: Neurodevelopmental disorders cover a heterogeneous group of disorders such as intellectual disability, autism spectrum disorders or specific learning difficulties, among others. The neurobiological and clinical variables seem to clearly justify the recent inclusion of attention deficit hyperactivity disorder (ADHD) as a neurodevelopmental disorder in the international classifications. DEVELOPMENT: Neurodevelopmental disorders are characterised by their dimensional nature and the distribution of the different symptoms in the population. These aspects are reviewed, specifically from the perspective of the clinical features and the neuropsychology of ADHD. The dimensional symptomatic nature of ADHD contrasts with the diagnostic criteria of this disorder according to different classifications or clinical guidelines. It also contrasts with the data collected by means of different complementary examinations (scales, tests, etc.). CONCLUSIONS: It is essential to understand the clinical continuum within each neurodevelopmental disorder (including ADHD), among the different neurodevelopmental disorders, and among the neurodevelopmental disorders and normality for their research, diagnosis and management. The development of instruments that provide support for this dimensional component is equally significant.

TITLE: Trastorno por deficit de atencion/hiperactividad: perspectiva desde el neurodesarrollo.Introduccion. Los trastornos del neurodesarrollo engloban a un grupo heterogeneo de trastornos como la discapacidad intelectual, el trastorno del espectro autista o los trastornos especificos del aprendizaje, entre otros. La reciente inclusion en las clasificaciones internacionales del trastorno por deficit de atencion/hiperactividad (TDAH) dentro de los trastornos del neurodesarrollo parece claramente justificada atendiendo a variables neurobiologicas y clinicas. Desarrollo. El caracter dimensional y la distribucion de diferentes sintomas en la poblacion caracterizan a la mayoria de los trastornos del neurodesarrollo. Se revisan estos aspectos, particularmente desde la sintomatologia y neuropsicologia en el TDAH. El caracter sintomatico dimensional del TDAH contrasta con los criterios diagnosticos de este trastorno de acuerdo a diferentes clasificaciones o guias clinicas. Contrasta igualmente con los datos recogidos a traves de diferentes exploraciones complementarias (escalas, tests...). Conclusiones. El entendimiento del continuo clinico dentro de cada trastorno del neurodesarrollo (incluido el TDAH), entre los diferentes trastornos del neurodesarrollo, y entre los trastornos del neurodesarrollo y la normalidad, es esencial para la investigacion, el diagnostico y el abordaje de todos ellos. El desarrollo de instrumentos que avalen este componente dimensional es igualmente trascendental.

[Current state of the attention deficit hyperactivity disorder approach in neuropediatrics]. / Estado actual del enfoque del trastorno por deficit de atencion/hiperactividad en neuropediatria.

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.

TITLE: Estado actual del enfoque del trastorno por deficit de atencion/hiperactividad en neuropediatria.Objetivo. Conocer el estado actual del enfoque del trastorno por deficit de atencion/hiperactividad (TDAH) entre los neuropediatras. Sujetos y metodos. Se realizo una encuesta telematica que recogia informacion preliminar sobre el interes, las dificultades en el manejo y el tratamiento del TDAH a los 437 socios de la Sociedad Española de Neurologia Pediatrica. Resultados. Respondio un 32,49% de los cuestionarios enviados, con una importante variabilidad geografica. El 97,89% afirmo que el 50% de sus consultas eran niños con trastornos de aprendizaje y TDAH. Respecto a quien iniciaba el tratamiento para el TDAH en su area, la mayoria contesto que el neuropediatra (57,97%), seguido del psiquiatra infantil (34,78%) y del pediatra de atencion primaria (5,31%). Respecto a las mayores dificultades para la valoracion inicial de los niños con sospecha de TDAH, se citaron la falta de un estudio psicopedagogico 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 coordinacion entre los profesionales, la escuela y los padres. Respecto a la medicacion, la mayoria de los pacientes se encontraba en tratamiento con algun tipo de metilfenidato de liberacion prolongada, un porcentaje estable utilizaba metilfenidato de liberacion inmediata como tratamiento unico o combinado, y se observo en un rango inferior el uso de clonidina y atomoxetina, y un incipiente uso de lisdexanfetamina. La adhesion al tratamiento farmacologico al año fue alrededor del 80%. Conclusiones. Es necesario avanzar en la capacitacion y educacion continua de nuestros especialistas neuropediatricos en el manejo del TDAH, y en homogeneizar la practica clinica y la coordinacion con educacion en el territorio español.

[An update on the pharmacological treatment of attention deficit hyperactivity disorder: lisdexamphetamine and extended-release guanfacine]. / Actualizacion en el tratamiento farmacologico del trastorno por deficit de atencion/hiperactividad: lisdexanfetamina y guanfacina de liberacion retardada.

INTRODUCTION: Attention deficit hyperactivity disorder (ADHD) is one of the most frequent neurodevelopmental disorders in the child population. Its treatment is complex and must include psychoeducational, environmental and pharmacological measures. In recent years, the main novelties as regards its pharmacological treatment have been the appearance of lisdexamphetamine and extended-release guanfacine. AIMS: The increase in the number of drugs available for the treatment of ADHD makes it possible to treat and cover a very wide range of different clinical situations. The purpose of this review is to perform an analysis of the literature on the two drugs. DEVELOPMENT: The study determines the strong points of both treatments, with special attention given to their mechanism of action, their tolerability and their efficacy. CONCLUSIONS: Extended-release guanfacine enables the professional to treat situations that are poorly covered by stimulants, such as children with irritability and tics, with a significant profile characterised by moderate efficacy and good tolerability and safety. The appearance of lisdexamphetamine has brought about a very important change because, according to the literature, it is a drug that, from the clinical point of view, is both complete and effective in improving the symptoms of ADHD. Moreover, it has a good safety profile.

TITLE: Actualizacion en el tratamiento farmacologico del trastorno por deficit de atencion/hiperactividad: lisdexanfetamina y guanfacina de liberacion retardada.Introduccion. El trastorno por deficit de atencion/hiperactividad (TDAH) es uno de los trastornos del neurodesarrollo mas frecuentes en la poblacion infantil. Su tratamiento es complejo y debe incluir medidas psicoeducativas, ambientales y farmacologicas. En los ultimos años, las principales novedades respecto a su tratamiento farmacologico son la aparicion de la lisdexanfetamina y la guanfacina de liberacion retardada. Objetivo. El aumento del numero de farmacos disponibles para el tratamiento del TDAH permite tratar y cubrir situaciones clinicas muy diversas. El proposito de la presente revision es realizar un analisis de la bibliografia sobre ambos farmacos. Desarrollo. Se establecen los puntos fuertes de ambos tratamientos, atendiendo especialmente a su mecanismo de accion, a su tolerabilidad y a su eficacia. Conclusiones. La guanfacina de liberacion retardada permite tratar situaciones escasamente cubiertas con los estimulantes, tales como los niños con irritabilidad y tics, con un perfil significativo de moderada eficacia y una buena tolerabilidad y seguridad. La aparicion de la lisdexanfetamina ha supuesto un cambio muy importante porque, segun la bibliografia, se trataria de un farmaco completo y efectivo, desde el punto de vista clinico, para mejorar los sintomas del TDAH. Ademas, posee un buen perfil de seguridad.

Nuevos tratamientos farmacológicos en el TDAH. A propósito de un caso clínico / New pharmacological treatments for ADHD. A case report

El Trastorno por Déficit de Atención/Hiperactividad (TDAH) es uno de los trastornos del neurodesarrollo más prevalentes en la infancia que frecuentemente se mantiene en la adolescencia y edad adulta. Los psicoestimulantes son generalmente el tratamiento farmacológico de primera línea para el TDAH, aunque alguno de estos pacientes no consiguen una remisión sintomática completa, especialmente los que tienen comorbilidad con el Trastorno Negativista Desafiante (TND). En estos casos, hay cada vez una mayor evidencia de que la combinación de psicoestimulantes y medicamentos no específicos para manejar el TDAH puede ser útil. La Guanfacina de liberación prolongada (GXR, Guanfacine Extended Release), un nuevo fármaco no psicoestimulante que actúa como agonista alfa 2 adrenérgico, ha sido aprobado recientemente por la Agencia Europea de Medicamentos como un nuevo tratamiento para el TDAH. En España se ha empezado a comercializar a finales de enero 2017. El objetivo de este estudio es evaluar la eficacia y tolerabilidad de la GXR administrada conjuntamente con dimesilato de lisdexanfetamina en un paciente con Trastorno por Déficit de atención e Hiperactividad (TDAH) y Trastorno Negativista Desafiante(TND)

Attention-deficit/hyperactivity disorder (ADHD) is one of the most prevalent neurodevelopmental disorders in childhood, which shows diagnostic persistence and morbidity into adulthood. Psychostimulants are generally first-line pharmacotherapy for ADHD, but some patients do not achieve symptomatic remission, especially those who have Oppositional Defiant Disorder (ODD) comorbidity. In those cases, there is growing evidence that a combination of psychostimulants and nonscheduled medications to manage ADHD, may be useful. The alpha-2 adrenergic agonist guanfacine extended release (GXR), a non-stimulant treatment, has recently been approved by the European Medicines Agency (EMA) as new therapeutic option for ADHD. In Spain it has been available from the end of January 2017. The aim of this study is to test the efficacy and tolerability of a combined therapy of psychostimulant (lisdexamfetamine) and GXR in a patient with ADHD and ODD

[The neuroanatomy of attention deficit hyperactivity disorder: neuropsychological and clinical correlates]. / Neuroanatomia del trastorno por deficit de atencion/hiperactividad: correlatos neuropsicologicos y clinicos.

INTRODUCTION: The development of structural magnetic resonance scanning and new methods of analysis has made it possible to explore, in a hitherto unknown way, the neuroanatomical bases of attention deficit hyperactivity disorder (ADHD). Yet, little is known about the relation between the clinical symptoms and the neuropsychological dysfunctions characterising ADHD and the neuroanatomical alterations that are observed. AIM: To explore the relation between neuroanatomy, clinical features and neuropsychology in ADHD. DEVELOPMENT: At group level, there are a number of marked differences between the brain of children, adolescents and adults with ADHD and the brain of subjects with a typical development. These differences are observed cross-sectionally and longitudinally in all the measurements, both in the grey matter and in the white matter. Although still scarce, there is an increasing body of evidence showing that these differences are related with the core symptoms of the disorder and with the degree of clinical dysfunction. They also appear to be associated with cognitive functioning (mainly attention and inhibitory control). CONCLUSIONS: The relation among the different levels of analysis in the study of ADHD bring research closer to the clinical features and allows a better understanding and management of the disorder. Although progress is undoubtedly being made in this field, there are still many questions that need exploring in greater depth. There is a need for a better understanding of the association between the neuroanatomical measurements and each dimension of the symptoms, and their relationship with other neuropsychological processes that are also involved in the disorder.

TITLE: Neuroanatomia del trastorno por deficit de atencion/hiperactividad: correlatos neuropsicologicos y clinicos.Introduccion. El desarrollo de la resonancia magnetica estructural y de nuevos metodos de analisis ha permitido examinar, como nunca antes, las bases neuroanatomicas del trastorno por deficit de atencion/hiperactividad (TDAH). No obstante, poco se sabe todavia sobre la relacion de los sintomas clinicos y las disfunciones neuropsicologicas caracteristicas del TDAH con las alteraciones neuroanatomicas observadas. Objetivo. Explorar la relacion entre neuroanatomia, clinica y neuropsicologia en el TDAH. Desarrollo. A nivel de grupo, existen diferencias marcadas entre el cerebro de niños adolescentes y adultos con TDAH y el cerebro de personas con desarrollo tipico. Estas diferencias se observan transversal y longitudinalmente en todas las medidas, tanto de la sustancia gris como de la sustancia blanca. Aunque todavia escasa, cada vez existe mayor evidencia que señala que estas diferencias se relacionan con los sintomas nucleares del trastorno y con el grado de disfuncion clinica. Tambien parecen asociarse con el funcionamiento cognitivo (principalmente, atencion y control inhibitorio). Conclusiones. La relacion entre los distintos niveles de analisis de estudio del TDAH acerca la investigacion a la clinica y permite comprender y tratar mejor el trastorno. Aunque el avance en este campo es innegable, todavia son muchas las cuestiones que hay que explorar y profundizar en mayor detalle. Se requiere comprender mejor la asociacion entre las medidas neuroanatomicas y cada dimension sintomatologica, y la relacion con otros procesos neuropsicologicos tambien implicados en el trastorno.

[Dysfunction in attention deficit hyperactivity disorder: assessment and response to treatment]. / Disfuncion en el trastorno por deficit de atencion/hiperactividad: evaluacion y respuesta al tratamiento.

Attention deficit hyperactivity disorder (ADHD) is a heterogeneous, symptomatically complex disorder. Its cardinal symptom, the presence of dysexecutive problems, emotional dysregulation of many of them and its own comorbidity, among others, will condition its clinical expression and the dysfunction. Classifying ADHD as a 'disorder' calls for an accurate assessment of the terms 'dysfunction' or 'repercussion'. The progress made in the classification and quantification of the symptoms characterising ADHD should be applied to measuring and objectifying dysfunction. Considering dysfunction as a simple interference, however clear it may be, could lead to an overestimation of the diagnosis of this disorder. Just as its estimation is essential for a diagnosis, it is also necessary for the correct evaluation of the efficacy of the therapeutic interventions, especially in the medium and long term. Further studies are needed in this sense to appraise the efficacy of the treatments, whether pharmacological or not, in different domains (social relationship, learning, self-esteem, quality of life, accidents, etc.).

TITLE: Disfuncion en el trastorno por deficit de atencion/hiperactividad: evaluacion y respuesta al tratamiento.El trastorno por deficit de atencion/hiperactividad (TDAH) es un trastorno heterogeneo y complejo sintomaticamente. Su sintomatologia cardinal, la presencia de problemas disejecutivos, la desregulacion emocional de muchos de ellos y la propia comorbilidad, entre otros, condicionaran su expresion clinica y la disfuncion. La tipificacion del TDAH como 'trastorno' requiere una evaluacion precisa del termino 'disfuncion' o 'repercusion'. Los avances en la tipificacion y cuantificacion de la sintomatologia caracteristica del TDAH deberian trasladarse a la medicion y objetivacion de la disfuncion. La estimacion de la disfuncion como una simple interferencia, por clara que sea, podria llevar a una sobreestimacion del diagnostico de este trastorno. Del mismo modo que es ineludible su estimacion para el diagnostico, es igualmente necesaria para la correcta evaluacion de la eficacia de las intervenciones terapeuticas, especialmente a medio y largo plazo. Son necesarios estudios adicionales en este sentido para valorar la eficacia de los tratamientos, sean farmacologicos o no, en diferentes dominios (relacion social, aprendizaje, autoestima, calidad de vida, siniestralidad…).

Emotional response inhibition in children with attention-deficit/hyperactivity disorder: neural and behavioural data.

BACKGROUND: Although both emotion and response inhibition are thought to be important in attention-deficit/hyperactivity disorder (ADHD), little is known about the neural mechanisms that underlie the interaction between these two processes in patients with this disorder. This study aimed at examining how emotional contexts affect inhibitory control in children with ADHD. METHOD: A total of 24 ADHD children and 24 healthy comparison subjects performed a modified go/no-go task during three different emotionally laden contexts: negative, neutral and positive. To explore the timing and the underlying neural substrates of emotion-modulated response inhibition, event-related potentials were measured and further analysed both at the scalp and at the voxel level. RESULTS: Patients with ADHD showed greater activation of inhibition-related neural mechanisms (i.e. no-go P3 amplitudes and orbitofrontal cortex activity) to maintain a similar level of performance as healthy comparison subjects, especially during the emotionally arousing contexts (negative and positive). CONCLUSIONS: This study provides plausible neural mechanisms for the difficulty that ADHD children have in controlling their behaviour in highly emotional situations. Such emotional contexts might increase the need for top-down inhibitory control and put ADHD children at greater risk for impulsive behaviours and emotional dysregulation.

Síndrome de Jeavons: importancia del diagnóstico diferencial en epilepsia / Jeavons syndrome: Importance of differential diagnosis in epilepsy

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Trastorno de Tourette y de la lectura en un niño con disrupción del tracto parietofrontal izquierdo / Tourette syndrome and reading disorder in a boy with left parietofrontal tract disruption

Presentamos el caso de un paciente de 9 años con trastorno de Tourette y de la lectura con antecedente de un proceso infeccioso grave durante el período neonatal tardío. La resonancia magnética cerebral demostró una cavidad encefalomalácica parietal izquierda, y un estudio con tensor de difusión y tractografía mostraron una llamativa disrupción del haz de sustancia blanca que une la región parietal izquierda con la frontal homolateral, con afectación del fascículo longitudinal superior y del fascículo arcuato izquierdos. Aunque los trastornos descritos son fundamentalmente neuropsiquiátricos hereditarios, pueden existir casos secundarios a alteraciones cerebrales como la que nos ocupa en el presente niño. La introducción de ésta y otras técnicas modernas de neuroimagen en pacientes con trastornos neuropsiquiátricos (o riesgo de padecerlos) podrían tener un gran valor diagnóstico y pronóstico en el futuro (AU)

We present the case of a nine-year-old boy with Tourette syndrome and reading disorder with a history of a severe infectious process in the late neonatal period. Brain MRI showed a left parietal malacotic cavity and diffusion tensor imaging and tractography showed a striking disruption of the white matter bundle that joins the left parietal region with the ipsilateral frontal region with involvement of the left superior longitudinal fasciculus and of the left arcuate fasciculus. Although Tourette syndrome and reading disorder are fundamentally hereditary neuropsychiatric disorders, they can also occur secondary to cerebral alterations like those existing in this boy. The introduction of modern neuroimaging techniques in patients with neuropsychiatric disorders (or the risk of developing them) can be very useful in the diagnosis and prognosis in the future (AU)

[Tourette syndrome and reading disorder in a boy with left parietofrontal tract disruption]. / Trastorno de Tourette y de la lectura en un niño con disrupción del tracto parietofrontal izquierdo.

We present the case of a nine-year-old boy with Tourette syndrome and reading disorder with a history of a severe infectious process in the late neonatal period. Brain MRI showed a left parietal malacotic cavity and diffusion tensor imaging and tractography showed a striking disruption of the white matter bundle that joins the left parietal region with the ipsilateral frontal region with involvement of the left superior longitudinal fasciculus and of the left arcuate fasciculus. Although Tourette syndrome and reading disorder are fundamentally hereditary neuropsychiatric disorders, they can also occur secondary to cerebral alterations like those existing in this boy. The introduction of modern neuroimaging techniques in patients with neuropsychiatric disorders (or the risk of developing them) can be very useful in the diagnosis and prognosis in the future.