[Intolerance to uncertainty in autism]. / La intolerancia a la incertidumbre en el autismo.

We start from the evidence that confirms a greater vulnerability to anxiety in people with autism and to wonder to what extent the intolerance to the uncertainty mediates in that anxiety. In addition, the alterations of the predictive abilities in autism could explain the coherence between greater intolerance to uncertainty and some peculiarities inherent in autism such as patterns of restrictive and stereotyped behaviors, interests and activities, and particularities in the processing of sensory information. This information will allow us to develop interventions specifically focused on this construct for the prevention and improvement of anxiety symptoms in autism in cases that the severity of intolerance to uncertainty constitutes a significant risk factor.

Partimos de las evidencias que confirman una mayor vulnerabilidad a la ansiedad de las personas con autismo para preguntarnos en qué medida la intolerancia a la incertidumbre media en dicha ansiedad. Además, las alteraciones de las habilidades predictivas en el autismo podrían explicar la coherencia existente entre mayor intolerancia a la incertidumbre y algunas particularidades inherentes al autismo como los patrones de comportamientos, intereses y actividades restrictivos y estereotipados, y las particularidades en el procesamiento de la información sensorial. Esta información nos permitirá desarrollar intervenciones centradas específicamente en este constructo para la prevención y mejora de la sintomatología ansiosa en el autismo en los casos en los que la severidad de la intolerancia a la incer tidumbre constituya un factor de riesgo significativo.

[From autism spectrum to autism constellation]. / Del espectro autista a la constelación autista.

Research on autism and mental disorders has been unsuccessful over the past few decades, as can be inferred from the poor results related to advances in other diseases. It is concerning that, after more than a half century of research based on the Diagnostic and Statistical Manual of Mental Disorders (DSM), no biological markers have been found to prove the validity of the DSM mental disorders. Criticisms to DSM have been focused mainly on the categorical conceptualization, false comorbidity and the polythetic nature of diagnostic criteria. The lack of validity of the DSM model requests for a change in research designs, in order to overcome the problems derived from a paradigm that has stopped to be productive. In the field of clinical practice, it is even more pressing a change of mindset in order to incorporate the heterogeneity of endophenotypes that overflows the classification of the DSM, to adopt a dimensional perspective of mental problems and to develop an alternative interpretation for comorbidity. Related to research are suggested designs based on Domain Research Criteria and a multifactorial analysis with very large samples (big data). For clinical practice it is suggested a dimensional approach based on the specificities of each person with autism.

La investigación sobre el autismo, y sobre los trastornos mentales en general, ha sido poco fructífera durante las últimas décadas, como se desprende de los escasos resultados obtenidos en comparación con los avances en otras enfermedades. Preocupa que, tras más de medio siglo de investigación basada en el Diagnostic and Statistical Manual of Mental Disorders (DSM), no se hayan encontrado marcadores biológicos que acrediten la validez de los trastornos mentales que lo configuran. Las críticas al DSM, todas ellas aplicables al autismo, se han centrado principalmente en la conceptualización categórica, en la falsa comorbilidad y en el carácter politético de los criterios diagnósticos. La falta de validez del modelo del DSM insta a un cambio en los diseños de investigación, con el fin de superar el bloqueo derivado de un paradigma que ha dejado de ser productivo. En el terreno de la práctica clínica resulta, incluso más apremiante, un cambio de mentalidad que permita: incorporar la heterogeneidad de endofenotipos que desbordan la clasificación del DSM, adoptar una perspectiva dimensional de los problemas mentales y desarrollar una interpretación alternativa de la comorbilidad Con referencia a la investigación, se proponen diseños basados en criterios de investigación por dominios (Research Domain Criteria) y en análisis multifactoriales con muestras muy grandes (big data). Por lo que respecta a práctica clínica se sugiere un enfoque dimensional basado en las especificidades de cada persona con autismo, lo cual desborda el patrón clínico del espectro.

La intolerancia a la incertidumbre en el autismo / Intolerance to uncertainty in autism

Partimos de las evidencias que confirman una mayor vulnerabilidad a la ansiedad de las personas con autismo para preguntarnos en qué medida la intolerancia a la incertidumbre media en dicha ansiedad. Además, las alteraciones de las habilidades predictivas en el autismo podrían explicar la coherencia existente entre mayor intolerancia a la incertidumbre y algunas particularidades inherentes al autismo como los patrones de comportamientos, intereses y actividades restrictivos y estereotipados, y las particularidades en el procesamiento de la información sensorial. Esta información nos permitirá desarrollar intervenciones centradas específicamente en este constructo para la prevención y mejora de la sintomatología ansiosa en el autismo en los casos en los que la severidad de la intolerancia a la incer tidumbre constituya un factor de riesgo significativo.

We start from the evidence that confirms a greater vulnerability to anxiety in people with autism and to wonder to what extent the intolerance to the uncertainty mediates in that anxiety. In addition, the alterations of the predictive abilities in autism could explain the coherence between greater intolerance to uncertainty and some peculiarities inherent in autism such as patterns of restrictive and stereotyped behaviors, interests and activities, and particularities in the processing of sensory information. This information will allow us to develop interventions specifically focused on this construct for the prevention and improvement of anxiety symptoms in autism in cases that the severity of intolerance to uncertainty constitutes a significant risk factor.

Del espectro autista a la constelación autista / From autism spectrum to autism constellation

La investigación sobre el autismo, y sobre los trastornos mentales en general, ha sido poco fructífera durante las últimas décadas, como se desprende de los escasos resultados obtenidos en comparación con los avances en otras enfermedades. Preocupa que, tras más de medio siglo de investigación basada en el Diagnostic and Statistical Manual of Mental Disorders (DSM), no se hayan encontrado marcadores biológicos que acrediten la validez de los trastornos mentales que lo configuran. Las críticas al DSM, todas ellas aplicables al autismo, se han centrado principalmente en la conceptualización categórica, en la falsa comorbilidad y en el carácter politético de los criterios diagnósticos. La falta de validez del modelo del DSM insta a un cambio en los diseños de investigación, con el fin de superar el bloqueo derivado de un paradigma que ha dejado de ser productivo. En el terreno de la práctica clínica resulta, incluso más apremiante, un cambio de mentalidad que permita: incorporar la heterogeneidad de endofenotipos que desbordan la clasificación del DSM, adoptar una perspectiva dimensional de los problemas mentales y desarrollar una interpretación alternativa de la comorbilidad Con referencia a la investigación, se proponen diseños basados en criterios de investigación por dominios (Research Domain Criteria) y en análisis multifactoriales con muestras muy grandes (big data). Por lo que respecta a práctica clínica se sugiere un enfoque dimensional basado en las especificidades de cada persona con autismo, lo cual desborda el patrón clínico del espectro.

Research on autism and mental disorders has been unsuccessful over the past few decades, as can be inferred from the poor results related to advances in other diseases. It is concerning that, after more than a half century of research based on the Diagnostic and Statistical Manual of Mental Disorders (DSM), no biological markers have been found to prove the validity of the DSM mental disorders. Criticisms to DSM have been focused mainly on the categorical conceptualization, false comorbidity and the polythetic nature of diagnostic criteria. The lack of validity of the DSM model requests for a change in research designs, in order to overcome the problems derived from a paradigm that has stopped to be productive. In the field of clinical practice, it is even more pressing a change of mindset in order to incorporate the heterogeneity of endophenotypes that overflows the classification of the DSM, to adopt a dimensional perspective of mental problems and to develop an alternative interpretation for comorbidity. Related to research are suggested designs based on Domain Research Criteria and a multifactorial analysis with very large samples (big data). For clinical practice it is suggested a dimensional approach based on the specificities of each person with autism.

Deconstruyendo a Kanner / Deconstructing Kanner

Kanner, en 1943, y Asperger, en 1944, publicaron sendos artículos que se han considerado las primeras descripciones del autismo. A Kanner se le atribuye el mérito de haber sido el primero en reconocer dicha entidad y a Asperger se le asigna la identificación de una forma de autismo, más leve, que se ha denominado síndrome de Asperger. La publicación de Kanner tuvo una relevancia importante en el desarrollo de la conceptualización del autismo por el hecho de haberse editado en Estados Unidos, donde alcanzó una gran difusión en el campo de la psiquiatría infantil. Por el contrario, el trabajo de Asperger, escrito en alemán durante la época del nazismo, fue prácticamente ignorado hasta pasadas casi cuatro décadas. La recopilación de datos históricos, en gran parte recogidos por Silberman, revela que Kanner conocía de primera mano el trabajo sobre el autismo que Asperger había iniciado diez años antes. Por otro lado, una relectura y análisis de las publicaciones pioneras pone en evidencia que las aportaciones de Asperger son plenamente vigentes, hasta el punto de haber intuido una etiología poligénica compleja y de encajar plenamente con el trastorno del espectro autista del DSM-5 (AU)

Kanner, in 1943, and Asperger, in 1944, published papers that have been considered the first descriptions of autism. Kanner is acknowledged as having been the first to recognise this condition, while Asperger is attributed with the identification of a milder form of autism which has been denominated Asperger’s syndrome. Kanner’s paper played an important role in the development of the conceptualisation of autism due to its being published in the United States, where it became popular in the field of child psychiatry. In contrast, Asperger’s work, written in German during the period dominated by Nazism, was practically ignored until almost four decades later. A review of the historical data, mostly collected by Silberman, reveals that Kanner had first-hand knowledge of the work on autism that Asperger had begun ten years earlier. Moreover, on re-reading and analysing the pioneering publications it becomes clear that the contributions made by Asperger are still fully valid today, to the point of having intuited a complex polygenic aetiology and that it would fit in perfectly with autism spectrum disorder in the DSM-5 (AU)

El trastorno de Tourette a lo largo de la historia / Tourette’s disorder in history

El término trastorno de Tourette emerge en el campo de la psiquiatría con la aparición de la tercera edición del Manual Diagnóstico y Estadístico de Trastornos Mentales (DSM-III) en el año 1980. Sin embargo, el hecho de que se consensuaran sus criterios diagnósticos por el grupo de expertos responsable de la elaboración de dicha versión del DSM no implica que previamente no existieran múltiples referencias a su sintomatología. El objetivo de este trabajo es recoger aportaciones de la historia de la neurología y de la psiquiatría que permitan comprender cómo se ha ido configurando el concepto operativo de trastorno de Tourette tal como es aceptado en la actualidad por una gran parte de la comunidad científica. En la última década, merced a los estudios de asociación de todo el genoma, se han producido importantes avances en la identificación de variantes comunes y variantes raras implicadas en la etiología del trastorno de Tourette. La conclusión más relevante que se desprende de esta revisión es poner al descubierto la crisis del modelo categórico kraepeliniano del trastorno (AU)

The term Tourette’s disorder emerged in the field of psychiatry with the appearance of the third edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-III) in 1980. However, the fact that some diagnostic criteria were agreed by the expert group responsible for the development of this version of the DSM diagnostic criteria does not mean that multiple references to the symptoms of the disorder did not previously exist. The aim of this review is to collect contributions from the history of neurology and psychiatry which allow us to understand how the operating concept of Tourette’s disorder has been progressively shaped as it is currently accepted by the scientific community. In the last decade, thanks to studies of genome association, major advances have arisen in identifying common variants and rare variants involved in the etiology of Tourette’s disorder. The most important conclusion of this review is the disclosure of the crisis of the Kraepelinian categorical model of the disorder (AU)

Vulnerabilidad a la autolesión en el autismo / Vulnerability to self-harm in autism

El porqué de la autolesión en las personas con autismo no parece tener una explicación simple, sencilla y única. La predisposición biológica, determinados estados psicológicos de estrés, un procesamiento sensorial atípico, alteraciones en la comunicación, problemas médicos, limitaciones en la regulación emocional, entre otros, pueden llevan a la persona con autismo a dañarse. Objetivo. En este artículo se diferencia, en primer lugar, la autolesión relacionada con alteraciones del neurodesarrollo, como el autismo y la autolesión vinculada a otras condiciones psiquiátricas; y en segundo lugar, se propone una primera aproximación a un modelo integral de comprensión de la autolesión en el autismo. Desarrollo. Algunas de las hipótesis explicativas de la autolesión en el autismo están centradas en el procesamiento sensorial atípico, en alteraciones de la comunicación y problemas médicos, y en la desregulación emocional. Conclusiones. La limitada investigación al respecto y la confusión de los datos que se arrojan ha generado un especial esfuerzo por separar los hechos de las suposiciones en todo lo relativo a este tema. Esta modesta propuesta inicial permite elaborar una hoja de ruta que oriente y ayude a las personas con autismo, a sus familias y a los profesionales en el proceso de disminuir o eliminar este comportamiento. Se sugiere dejar de hablar de la autolesión como comportamiento disruptivo y más bien interpretarla como una (inadecuada) respuesta autorregulatoria al estrés (AU)

Introduction. The reasons underlying self-harm in persons with autism do not appear to have a single, straightforward and simple explanation. Biological predisposition, certain psychological states involving stress, atypical sensory processing, communication disorders, medical problems, and limited emotional regulation, among others, can lead persons with autism to harm themselves. Aims. In this article a distinction is drawn, first of all, between self-harm related to neurodevelopmental disorders, such as autism, and self-harm linked to other psychiatric conditions. Second, a preliminary approach to an integrated model for the understanding of self-harm in autism is proposed. Development. Some of the hypotheses put forward to account for self-harm in autism are focused on atypical sensory processing, on communication disorders and medical problems, and on emotional dysregulation. Conclusions. The limited number of studies conducted in this area and the inconsistency of the data resulting from them have led to great efforts being made to separate the facts from the suppositions in this subject. This modest initial proposal makes it possible to draw up a roadmap to guide and help persons with autism, their families and professionals in the process of reducing or eliminating this behaviour. It is suggested that self-harm should no longer be considered a disruptive behaviour and that it should be interpreted instead as an (inadequate) self-regulatory response to stress (AU)

Autismos que se 'curan' / Autisms that 'cure themselves'

Introducción. La investigación sobre el autismo, basada principalmente en el modelo categórico del Manual diagnóstico y estadístico de los trastornos mentales, se ha centrado de forma preferente en la epidemiología, las manifestaciones clínicas, los mecanismos cognitivos y los determinantes biológicos y ambientales; sin embargo, se ha prestado escaso interés a las trayectorias evolutivas, las cuales son decisivas de cara al pronóstico a medio y largo plazo. Objetivo. Revisar el curso evolutivo de niños diagnosticados de autismo que, aun conservando a medio o largo plazo rasgos conductuales acordes con el perfil inicial, alcanzan una adaptación social y laboral satisfactorias, y además dejan de cumplir los criterios que dieron lugar al diagnóstico inicial. Desarrollo. Se ha revisado la bibliografía sobre el autismo centrada en el análisis de la evolución de las manifestaciones clínicas y de su repercusión desde las primeras edades hasta la edad adulta. Asimismo, se han tomado en consideración aspectos conceptuales sobre el autismo que facilitan la comprensión y el significado de los patrones evolutivos. Conclusiones. Alrededor del 20% de los niños diagnosticados dejan de cumplir los criterios en los que se basó el diagnóstico y, además, alcanzan un ajuste social y laboral satisfactorio. Como factores favorecedores se identifica: inteligencia normal, buen nivel de lenguaje y baja incidencia de ‘comorbilidades’; por el contrario, en las series notificadas no se señalan como factores determinantes las intervenciones terapéuticas precoces e intensivas. Por último, se menciona el concepto de neurodiversidad, donde la recuperación se centra en el desarrollo óptimo de las capacidades de cada individuo en un entorno facilitador (AU)

Introduction. Research into autism, based mainly on the categorical model in the Diagnostic and statistical manual of mental disorders, has focused above all on the epidemiology, clinical manifestations, cognitive mechanisms and the biologicalenvironmental determining factors. Yet, little attention has been paid to the developmental trajectories, which play a decisive role when it comes to establishing a medium- and long-term prognosis. Aims. The purpose of this study is to review the developmental course of children diagnosed with autism who, despite preserving behavioural traits consistent with the initial profile in the medium- and long-term, accomplish a satisfactory social and occupational adaptation, and additionally no longer meet the criteria that gave rise to the initial diagnosis. Development. A review was conducted of the bibliography on autism focused on the analysis of the development of the clinical manifestations and their repercussions from the earliest ages to adulthood. Likewise, we have also taken into consideration conceptual aspects about autism that facilitate the comprehension and the meaning of the developmental patterns. Conclusions. Around 20% of the children diagnosed with autism cease to meet the criteria on which their diagnosis was based and, furthermore, achieve a satisfactory social and occupational adjustment. The following were identified as favouring factors: normal intelligence, good level of language and low incidence of ‘comorbidities’; conversely, in the series that were reported, early and intensive therapeutic interventions were not shown to be determining factors. Lastly, mention is made of the concept of neurodiversity, where recovery is centred on the optimal development of each individual’s capacities within a facilitating environment (AU)

[Unresolved issues in the DSM-5]. / Asignaturas pendientes del DSM-5.

This paper analyses the criticism prompted by the publication of the Diagnostic and statistical manual of mental disorders, fifth edition (DSM-5), which was already foreseen to a certain extent during the final stages of its drafting. Part of the criticism has focused on the changes in the diagnostic criteria for certain disorders and the incorporation of new entities into the DSM. Another line of criticism, however, is aimed at the lack of diagnostic validity of the DSM, which has led to its efficiency in the research field being questioned. The basic underlying flaw in the DSM is the incoherence of a model based on a wide range of definitions of categorical entities, all of which have a high element of comorbidity. As a proposal to overcome the blockage generated in research and the scarcity of therapeutic advances, the US National Institute of Mental Health has put forward a research strategy based on identifying and studying the fundamental dimensions of the dysfunctions that present transversally in mental disorders.

TITLE: Asignaturas pendientes del DSM-5.el presente articulo analiza las criticas generadas a partir de la publicacion del Manual diagnostico y estadistico de los trastornos mentales, quinta edicion (DSM-5), ya anunciadas parcialmente durante las ultimas fases de su elaboracion. Una parte de las criticas se ha centrado en los cambios de los criterios diagnosticos para determinados trastornos y en la incorporacion al DSM de nuevas entidades. Sin embargo, otra vertiente critica va dirigida a la falta de validez de los diagnosticos del DSM, por cuyo motivo se ha cuestionado su eficiencia en el campo de la investigacion. El fallo basico del DSM se centra en la incoherencia de un modelo basado en un amplio repertorio de definiciones de entidades categoricas, todas ellas con un alto componente de comorbilidad. Como propuesta para superar el bloqueo generado en la investigacion y la parquedad de avances terapeuticos, el Instituto Nacional de Salud Mental de Estados Unidos ha propuesto una estrategia de investigacion cuyo punto de partida se sustenta en la identificacion y el estudio de las dimensiones basicas de las disfunciones que se presentan de modo transversal en los trastornos mentales.

Asignaturas pendientes del DSM-5 / Unresolved issues in the DSM-5

el presente artículo analiza las críticas generadas a partir de la publicación del Manual diagnóstico y estadístico de los trastornos mentales, quinta edición (DSM-5), ya anunciadas parcialmente durante las últimas fases de su elaboración. Una parte de las críticas se ha centrado en los cambios de los criterios diagnósticos para determinados trastornos y en la incorporación al DSM de nuevas entidades. Sin embargo, otra vertiente crítica va dirigida a la falta de validez de los diagnósticos del DSM, por cuyo motivo se ha cuestionado su eficiencia en el campo de la investigación. El fallo básico del DSM se centra en la incoherencia de un modelo basado en un amplio repertorio de definiciones de entidades categóricas, todas ellas con un alto componente de comorbilidad. Como propuesta para superar el bloqueo generado en la investigación y la parquedad de avances terapéuticos, el Instituto Nacional de Salud Mental de Estados Unidos ha propuesto una estrategia de investigación cuyo punto de partida se sustenta en la identificación y el estudio de las dimensiones básicas de las disfunciones que se presentan de modo transversal en los trastornos mentales (AU)

This paper analyses the criticism prompted by the publication of the Diagnostic and statistical manual of mental disorders, fifth edition (DSM-5), which was already foreseen to a certain extent during the final stages of its drafting. Part of the criticism has focused on the changes in the diagnostic criteria for certain disorders and the incorporation of new entities into the DSM. Another line of criticism, however, is aimed at the lack of diagnostic validity of the DSM, which has led to its efficiency in the research field being questioned. The basic underlying flaw in the DSM is the incoherence of a model based on a wide range of definitions of categorical entities, all of which have a high element of comorbidity. As a proposal to overcome the blockage generated in research and the scarcity of therapeutic advances, the US National Institute of Mental Health has put forward a research strategy based on identifying and studying the fundamental dimensions of the dysfunctions that present transversally in mental disorders (AU)

[Autism in the first year]. / El autismo en el primer año.

At present autism can be diagnosed with a high degree of reliability between the ages of 18 months and 2 years. Yet, the first symptoms are already present long before the diagnosis is made. This has led to a number of retrospective and prospective studies being conducted with the aim of detecting manifestations that allow a diagnosis to be reached as early as possible. The results of these studies have enabled researchers to detect symptoms that appear between the ages of 6 and 12 months. Although it has been observed that these symptoms are of limited diagnostic interest, they do provide invaluable information for the understanding of autism within the framework of neurodevelopmental disorders because they highlight a pattern of development that is initially common to several different disorders, but which progressively goes on to constitute a specific phenotype.

TITLE: El autismo en el primer año.Actualmente es posible diagnosticar el autismo con un alto grado de fiabilidad entre los 18 meses y los 2 años. Sin embargo, los primeros sintomas ya estan presentes mucho antes del diagnostico. Ello ha dado pie a que se hayan llevado a cabo multiples estudios, retrospectivos y prospectivos, orientados a detectar manifestaciones que faciliten un diagnostico lo mas precozmente posible. A partir de estas investigaciones se han podido detectar sintomas cuya aparicion se situa entre los 6 y 12 meses. Aunque se ha visto que estos sintomas tienen un interes diagnostico limitado, aportan informacion muy valiosa para la comprension del autismo en el marco de los trastornos del neurodesarrollo, en el sentido de destacar un patron evolutivo que en su inicio es comun a diversos trastornos, pero que progresivamente va configurando un fenotipo especifico.

El autismo en el primer año / Autism in the first year

Actualmente es posible diagnosticar el autismo con un alto grado de fiabilidad entre los 18 meses y los 2 años. Sin embargo, los primeros síntomas ya están presentes mucho antes del diagnóstico. Ello ha dado pie a que se hayan llevado a cabo múltiples estudios, retrospectivos y prospectivos, orientados a detectar manifestaciones que faciliten un diagnóstico lo más precozmente posible. A partir de estas investigaciones se han podido detectar síntomas cuya aparición se sitúa entre los 6 y 12 meses. Aunque se ha visto que estos síntomas tienen un interés diagnóstico limitado, aportan información muy valiosa para la comprensión del autismo en el marco de los trastornos del neurodesarrollo, en el sentido de destacar un patrón evolutivo que en su inicio es común a diversos trastornos, pero que progresivamente va configurando un fenotipo específico (AU)

At present autism can be diagnosed with a high degree of reliability between the ages of 18 months and 2 years. Yet, the first symptoms are already present long before the diagnosis is made. This has led to a number of retrospective and prospective studies being conducted with the aim of detecting manifestations that allow a diagnosis to be reached as early as possible. The results of these studies have enabled researchers to detect symptoms that appear between the ages of 6 and 12 months. Although it has been observed that these symptoms are of limited diagnostic interest, they do provide invaluable information for the understanding of autism within the framework of neurodevelopmental disorders because they highlight a pattern of development that is initially common to several different disorders, but which progressively goes on to constitute a specific phenotype (AU)

ADHD predominantly inattentive subtype with high sluggish cognitive tempo: a new clinical entity?

OBJECTIVE: The authors investigate differences in the neuropsychological and behavioral profiles of two groups of children with ADHD, one with predominantly inattentive subtype of ADHD (PI) and high sluggish cognitive tempo (SCT; n = 19) and another formed by the rest of the sample (children with ADHD combined subtype and children with PI and low SCT scores; n = 68). METHOD: Instruments included Wechsler Intelligence Scale for Children and subtests from Developmental Neuropsychological Assessment, Conners' Continuous Performance Test, Behavior Rating Inventory of Executive Function, and Achenbach's Child Behavior Checklist for ages 6 to 18. RESULTS: PI with high SCT had fewer problems with sustained attention, and more internalizing problems, anxiety/depression, and withdrawn/depressed behavior, and more executive problems with self-monitoring than the rest of the ADHD sample. CONCLUSION: This study supports revising subtype's criteria and further studying the hypothesis that ADHD with high SCT constitutes a separate clinical entity.

Borderline Intellectual Functioning: Consensus and good practice guidelines

Introducción: El funcionamiento intelectual límite (FIL) se conceptualiza actualmente como la barrera que separa el funcionamiento intelectual «normal» de la discapacidad intelectual (CI 71-85). A pesar de su magnitud, su prevalencia no puede ser cuantificada y no se ha operativizado su diagnóstico. Objetivos: Elaborar un marco conceptual para el FIL y establecer directrices de consenso que permitan la aplicación de una atención integral centrada en la persona. Metodología: Se utilizó una metodología mixta cualitativa que combinaba un análisis del marco conceptual con el desarrollo de grupos nominales. Se realizó una revisión bibliográfica extensiva en bases de datos de evidencia médica, publicaciones científicas y literatura gris. Se estudió la información encontrada y se redactó un documento de marco conceptual sobre el FIL. Resultados: Las publicaciones centradas en el colectivo de personas con FIL son escasas. El término que mayor número de publicaciones arrojó fue «Borderline Intelligence». Se detectaron una serie de temas sobre los que era necesario alcanzar un consenso y se redactó un documento con las conclusiones del grupo de trabajo. Conclusiones: Es necesario establecer un consenso a nivel internacional sobre el constructo del FIL y sus criterios operativos, y desarrollar instrumentos específicos de detección y diagnóstico. También es necesario elaborar criterios que permitan calcular su incidencia y prevalencia. Saber qué intervenciones son las más adecuadas y cuáles son las necesidades de atención que presenta este colectivo es de vital importancia para implementar un modelo de atención integral centrado en la persona(AU)

Introduction: The Borderline Intellectual Functioning (BIF) is conceptualised as the frontier that delimits ‘‘normal’’ intellectual functioning from intellectual disability (IQ 71-85). In spite of its magnitude, its prevalence cannot be quantified and its diagnosis has not yet been defined. Objectives: To elaborate a conceptual framework and to establish consensus guidelines. Method: A mixed qualitative methodology, including frame analysis and nominal groups techniques, was used. The literature was extensively reviewed in evidence based medical databases, scientific publications, and the grey literature. This information was studied and a framing document was prepared. Results: Scientific publications covering BIF are scarce. The term that yields a bigger number of results is ‘‘Borderline Intelligence’’. The Working Group detected a number of areas in which consensus was needed and wrote a consensus document covering the conclusions of the experts and the framing document. Conclusions: It is a priority to reach an international consensus about the BIF construct and its operative criteria, as well as to develop specific tools for screening and diagnosis. It is also necessary to define criteria that enable its incidence and prevalence. To know what interventions are the most efficient, and what are the needs of this population, is vital to implement an integral model of care centred on the individual(AU)

[Autism and attention deficit hyperactivity disorder: convergences and divergences. Genetics]. / Autismo y trastorno de déficit de atención/hiperactividad: convergencias y divergencias. Genética.

According to the DSM-5, attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are different conditions that earlier versions of the DSM stated could not be diagnosed together in the same individual. Yet, over the last few decades the debate on the limits between the two disorders has continued, even though ADHD and ASD are undoubtedly clinically and cognitively different phenotypes, as demonstrated by the simple fact that they have been defined in clearly different ways. Thus, from a perspective anchored in a purely phenomenological view, there would be no grounds whatsoever on which to question the independence between the two disorders. Since, at the present time, the discussion on the convergence between ADHD and ASD cannot be considered to have been solved, this study aims to take the data available from genetics as the basis on which to review the nosological position of the two disorders. The main studies that have addressed this issue are reviewed. The data collected agree on a genetic overlap between ADHD and ASD, which is influenced by common molecular mechanisms that affect the two disorders at the same time. The conclusions that can be drawn from the data collected suggest a new conceptual model not only for ADHD and ASD, but also for complex mental disorders in general. This line of research will transform the way of understanding the treatment of mental disorders and will almost certainly open up new perspectives in this area.

TITLE: Autismo y trastorno de deficit de atencion/hiperactividad: convergencias y divergencias. Genetica.El trastorno de deficit de atencion/hiperactividad (TDAH) y el trastorno del espectro autista (TEA), de acuerdo con el DSM-5, son entidades distintas cuyo diagnostico conjunto en un mismo individuo estaba vedado en versiones anteriores del DSM. No obstante, durante las dos ultimas decadas se ha mantenido un debate sobre los limites entre uno y otro trastorno, a pesar de que no cabe ninguna objecion de que TDAH y TEA son fenotipos clinicos y cognitivos distintos, por una razon tan obvia como es el hecho de que se han definido de manera claramente distinta. Por lo tanto, desde una perspectiva anclada en una vision puramente fenomenologica, no existiria razon alguna para cuestionar la independencia entre uno y otro trastorno. Puesto que en la actualidad no se puede dar por resuelta la discusion sobre convergencia entre TDAH y TEA, este trabajo se plantea revisar a partir de las aportaciones de la genetica cual es la ubicacion nosologica de ambos trastornos. Se revisan los principales estudios que han abordado la cuestion planteada. Los datos recogidos coinciden en un solapamiento genetico entre TDAH y TEA, mediatizado por mecanismos moleculares comunes que inciden a la vez en uno y otro trastorno. Las conclusiones que se desprenden de la recopilacion de los datos de los que se disponen orientan hacia un nuevo modelo conceptual no solo para el TDAH y el TEA, sino para los trastornos mentales complejos en general. Esta linea de investigacion transformara el modo de entender y, casi con toda certeza, abrira nuevas perspectivas en el tratamiento de los trastornos mentales.

[The genetic bases of neurodevelopmental disorders]. / Bases geneticas de los trastornos del neurodesarrollo.

In the last decade, progress made in genetics is questioning the current implicit nosological model in the Diagnostic and Statistical Manual of Mental Disorders, fourth edition, text revision (DSM-IV-TR) and the International Classification of Diseases, tenth revision. Both the categorical nature and the comorbidity detected on applying diagnostic criteria become unsustainable in the light of the genetic architecture that is emerging from studies being conducted on the genetics of mental disorders. The classical paradigms -one gene for one disease- or even a specific distinctive genetic pattern for each condition, are concepts restricted to specific cases. In this review the objective is to describe the current scenario that has arisen following the latest advances in genetics. The lines of work being traced by research both in the present and in the near future include: the identification of variations in the number of copies (both frequent and rare), indiscriminately linked to different disorders; the concurrence of multiple variants for a single disorder; the double hit phenomenon; and epigenetic modulation. The new version of the DSM, fully aware of the deficiencies in the current model, will mark a turning point that, while somewhat timid, is decidedly oriented towards incorporating a dimensional conception of mental disorders.

Borderline intellectual functioning: consensus and good practice guidelines.

INTRODUCTION: The Borderline Intellectual Functioning (BIF) is conceptualized as the frontier that delimits "normal" intellectual functioning from intellectual disability (IQ 71-85). In spite of its magnitude, its prevalence cannot be quantified and its diagnosis has not yet been defined. OBJECTIVES: To elaborate a conceptual framework and to establish consensus guidelines. METHOD: A mixed qualitative methodology, including frame analysis and nominal groups techniques, was used. The literature was extensively reviewed in evidence based medical databases, scientific publications, and the grey literature. This information was studied and a framing document was prepared. RESULTS: Scientific publications covering BIF are scarce. The term that yields a bigger number of results is "Borderline Intelligence". The Working Group detected a number of areas in which consensus was needed and wrote a consensus document covering the conclusions of the experts and the framing document. CONCLUSIONS: It is a priority to reach an international consensus about the BIF construct and its operative criteria, as well as to develop specific tools for screening and diagnosis. It is also necessary to define criteria that enable its incidence and prevalence. To know what interventions are the most efficient, and what are the needs of this population, is vital to implement an integral model of care centred on the individual.

El autismo 70 años después de Leo Kanner y Hans Asperger / Autism 70 years after Leo Kanner and Hans Asperger

A partir de las aportaciones de Leo Kanner (1943) y Hans Asperger (1944), el autismo ha sido foco de intenso debate, no sólo sobre aspectos fenomenológicos, etiológicos y terapéuticos; sino también sobre su propia naturaleza. La presente revisión pretende situar el autismo como un concepto dinámico sometido a interpretaciones no solo diversas, sino radicalmente enfrentadas. Bajo un controvertido debate entre teorías psicodinámicas, conductistas y biológicas transcurrieron casi cuatro décadas, hasta que el autismo fue incorporado a los manuales diagnósticos. A partir de los años 80 una parte importante de los profesionales implicados en el autismo basa el diagnóstico en criterios consensuados que permiten delimitar grupos homogéneos, sin los cuales sería estéril la investigación y el intercambio de conocimientos. Pero los criterios actuales, y sobre todo la ubicación nosológica del autismo, parecen estar todavía lejos de ser consolidados como definitivos. Posiblemente las aportaciones del DSM 5 sean el inicio de un giro radical(AU)

From the contributions of Leo Kanner (1943) and Hans Asperger (1944), autism has been the focus of an intense debate about its phenomenological, etiological and therapeutic aspects and about its nature. This review aims to describe autism as a dynamic concept subject to interpretations not only different, but radically opposed. During four decades there has been a controversial debate between psychodynamic, behavioral and biological theories till autism was incorporated into the Diagnostic and Statistical Manual of Mental Disorders. From the 80's on an important part of the professionals involved in autism, based the diagnosis on agreed criteria that allow defining homogenous groups, without which research would be sterile and shared knowledge impossible. But today's standards, and especially the nosological location of autism, appear to be still far from being consolidated as definitive. Perhaps the contributions of the DSM 5 will be the beginning of a turnabout(AU)

[Short-lived disorders]. / Trastornos efimeros.

Over the years, most of the mental disorders that are dealt with in everyday clinical practice have changed not only their names but also their conceptualisation. Furthermore, as some disorders disappear or are forgotten, others come into being. Seen from a historical perspective and unlike many of the diseases included within classical medicine, it can be stated that one of the basic characteristics of mental disorders is their short-lived presence in the scientific literature. In this study we analyse the causes underlying the transitory nature of mental disorders. The disappearance of a disorder or the modification of how it is conceptualised may be linked to several different motives. Sometimes they may be due to an evolution of the construct, as a result of new findings. On other occasions the disorder falls into disuse owing to the weakness of the theoretical construct or the clinical research upholding it. Lastly, because the Diagnostic and Statistical Manual of Mental Disorders and the International Classification of Diseases require updates that incorporate new contributions and correct faults in the current model, they give rise to new denominations and definitions in mental disorders. This article analyses these three situations and offers an illustrative example in each case.

[Do we know what a disorder is? Prospects of the DSM 5]. / Sabemos que es un trastorno? Perspectivas del DSM 5.

Mental problems are generically called disorders. However, over half a century after they were first included in diagnostic manuals, and although the use of the term disorder has become consolidated in everyday life, it still stands out as an artificial construct that does not exist in nature itself. The article highlights the inconsistencies of the categorical and polythetic model implicit in the Diagnostic and Statistical Manual of Mental Disorders (DSM). The contributions made by evolutionary psychopathology and advances in genetics are discussed and these two angles give rise to a new way of understanding mental disorders that calls for a deep transformation of the categorical model. Evolutionary psychopathology enables us to understand mental disorders that have their origins in adaptive behaviours, but which are ill-adjusted in the individual who has them. With the promising expectations deriving from studies based on a huge number of genetic variations, the field of genetics opens up the doors to a conceptualisation of disorders that is considerably different from the current model. As a result of all this, there appears to be a need to set out on the path towards a change of paradigm. The DSM 5, although perhaps still to an insufficient degree, seems to want to offer an answer to the inconsistencies of the present model. In this regard, the next edition of the DSM is due to incorporate dimensional scales and cross-sectional scales, without forsaking the categorical conceptualisation altogether.