The Revelatory Journey of Fine-tuning the Diagnosis of an Adult Male on the Autistic Spectrum - Asperger Syndrome/High-functioning Autism with Corollary Diagnoses / Viaje revelador al configurar el diagnóstico de un varón adulto en sintonía con el espectro autista - síndrome de Asperger/autismo de alto funcionamiento con diagnósticos corolarios

ABSTRACT This article provides an account of the revelatory experience of diagnosing a high-functioning, autistic, adult male by a non-specialist medical practitioner and its implications for knowledge, attitudes and practice in dealing with the autistic spectrum.

RESUMEN Este artículo ofrece un reporte de la experiencia reveladora del diagnóstico de un varón adulto autista de alto funcionamiento por un médico no especializado y sus implicaciones para el conocimiento, las actitudes y la práctica al tratar con el espectro autista.

Caso clínico: Trastorno del Espectro Autista (TEA) / Autistic Spectrum Disorder (ASD)

Paciente, 18 años, hijo único, pololeando. Antecedentes Psiquiátricos Familiares (+). Repitió 3 veces el 1ero básico. Aislamiento social e intereses restringidos desde la infancia. Derivado de Alter joven. Historia de larga data (>1 año) de mayor descuido de higiene personal, aislamiento social e irritabilidad. Hipótesis diagnóstica: TEA. Seguimiento con controles médicos, con terapeuta ocupacional y psicoterapia. Examen mental al inicio: Con escaso contacto visual. Pseudocontactado, hipomímico. Afecto con rango de expresividad emocional disminuido. Humor depresivo. Lenguaje lacónico, aprosódico. Al examen (6 meses después) destaca buen arreglo personal, contactado, establece contacto visual, tranquilo, adecuado, cooperador, eutímico, mímica facial acorde al relato, lenguaje bien articulado, con manierismos y estereotipias, prosodia alterada, pensamiento estructurado, con rigidez cognitiva y concreto.

Patient, 18 years old, only child, in love relationship. Family Psychiatric Background (+). He repeated 3 times the 1st basic course. Social isolation and restricted interests from childhood. Derived from Young Alter. Long history (> 1 year) of greater neglect of personal hygiene, social isolation and irritability. Diagnostic hypothesis: ASD. Follow-up with medical controls, occupational therapist and psychotherapy. Mental exam at the start: With little eye contact. Pseudocontact, hypomimic. Affect with decreased emotional expressiveness. Depressive mood. Laconic language, aprosodic.

Transtorno do espectro autista: onde estamos e para onde vamos / Autism spectrum disorders: where we are and where we are going / Trastorno de espectro autista: dónde estamos y hacia dónde vamos

A ampliação do conhecimento científico sobre o autismo pode ser identificado pelo aumento na produção de pesquisas sobre este transtorno nas últimas décadas, implicando atualizações recentes em sua classificação, compreensão e intervenção. O objetivo deste artigo é apresentar uma revisão da literatura sobre o autismo, apontando como os avanços investigativos recentes têm lançado luz sobre a compreensão do transtorno. Relata historicamente como os critérios para o diagnóstico nos manuais médicos de classificação foram aprimorados, complementados e suplantados com base em evidências até o atual DSM-5. É realizada uma revisão das contribuições teóricas e empíricas que impulsionaram essas mudanças para sintetizar o que tem sido considerado como aspectos centrais desse transtorno como espectro dimensional. Problematiza o aumento do número de diagnósticos a partir dos dados epidemiológicos atuais, destacando o que as pesquisas multidisciplinares têm identificado como fatores etiológicos e prognósticos para a vida adulta. Por fim, revisa brevemente o panorama dos principais programas e modelos de intervenção baseados em evidências para pessoas com autismo nas áreas da saúde e educação, para então apontar os atuais desafios neste contexto.

The diffusion of scientific knowledge about autism can be explained trough the increasing number of researches on this disorder in the last decades, implying in recent updates in its classification, understanding and intervention. The purpose of this paper is to present a literature review on autism highlighting how the recent investigative advances that have shed light on the understanding ofthe disorder. It reports historically how the first diagnostic criteria were being improved, supplemented and supplanted in the medical classification manuals, based on research until DSM-5. A review of empirical researches that drove these changes is performed to synthesize what has been considered as core aspects of this disorder as a dimensional spectrum. Discusses the increasing number of diagnoses, emphasizing the points that the multidisciplinary research has identified as possible causes, and the knowledge about the development expectations for adulthood. Finally, it reviews the landscape of the main programs and intervention models for people with autism in health and education fields, to point out to the current challenges and those to be addressedin the future

El propósito de este artículo es presentar una revisión de la literatura sobre el autismo señalando los avances recientes de investigación resultantes que han arrojado luz sobre la comprensión del trastorno. Informa históricamente como los criterios para este diagnóstico en la clasificación de los manuales de medicina se están siendo avanzados, complementados y suplantados con base en la investigación por la corriente del DSM-5. Se realiza una revisión de las investigaciones empíricas que impulsó a estos cambios para sintetizar lo que se ha considerado como aspectos centrales de este trastorno como un espectro dimensional. Se analiza el creciente número de diagnósticos, enfatizando o que las investigaciones multidisciplinares han identificado como posibles causas, y lo que se sabe acerca de las expectativas de desarrollo para la edad adulta. Por último, revisa el panorama de los principales programas y modelos de intervención para las personas con autismo en las áreas de salud y educación, para apuntar a los retos actuales en este contexto y aquellos que se abordarán en el futuro.

Características neuroanatómicas del síndrome de Asperger / Neuroanatomical characteristics of Asperger's síndrome

El síndrome de Asperger (SA) es un trastorno del neurodesarrollo que se caracteriza por presentar deterioros cualitativos de las interacciones sociales recíprocas y de los modos de comunicación, como también por la restricción del repertorio de intereses y de actividades que se aprecian estereotipadas y repetitivas. En la actualidad, el Manual Diagnóstico y Estadístico de Trastornos Mentales (DSM-V) decide eliminar esta subcategoría e incorporarla en una categoría general conocida como trastorno del espectro autista (TEA), lo que ha producido muchos debates y desacuerdos principalmente por distingirlo o no, con el autismo del alto funcionamiento (AAF). Un enfoque para resolver esta cuestión corresponde a los esfuerzos que se realizan por comprender la neuroanatomía estructural y funcional del TEA y del SA en particular, sin embargo, estas aproximaciones han dado lugar a resultados variables, debido a las diferencias en la edad, género, subcategorías y coefieciente intelectual de los sujetos de estudio, así como por criterios de inclusión y metodología de estudio. En base a lo anterior, el objetivo de esta revisión fue exponer el conocimiento actual de las características neuroanatómicas del SA considerando para esto aquellas investigaciones del TEA que individualizan este trastorno como entidad diagnóstica y lo diferencian del AAF.

The asperger syndrome (AS) is a neurodevelopmental disorder that is characterized by qualitative deterioration of reciprocal social interactions and communication methods, as well as by the restriction of the repertoire of interests and activities that are perceived as stereotyped and repetitive. Actually, the Diagnostic and Statistical Manual of Mental Disorders (DSM-V) decides to eliminate this subcategory and to incorporate it into a general category known as autism spectrum disorder (ASD), which has produced many debates and disagreements mainly to distinguish it or not with High Functioning Autism (HFA). One approach to address this question is the effort to understand the structural and functional neuroanatomy of ASD and AS in particular; however, this approach has led to variable outcomes, often due to differences in age, gender, subcategories and IQ of study subjects, as well as by inclusion criteria and study methodology. Based on the above-mentioned, the aim of this review was to present the current knowledge of the neuroanatomical characteristics of AS considering for this the investigations of the ASD that individualize this disorder as a diagnostic entity and differentiate it from HFA.

Adaptación y análisis psicométrico de la Escala Gilliam para evaluar trastorno de Asperger / Adaptation and psychometric analysis of the Gilliam Asperger’ Disorder Scale

La Escala Gilliam para evaluar Transtorno Asperger (Gilliam Asperger’s Disorder Scale, GADS) es una evaluación de calificación conductual, cuyo propósito es ayudar a que los profesionales diagnostiquen el Síndrome de Asperger (SA). Esta escala se utiliza para evaluar sujetos entre los 3 y 22 años y puede ser completada por cualquier persona que tenga contacto regular con un sujeto con SA. Los únicos estudios psicométricos queso conocen con resultados favorables son los de la muestra normativa. Es por esto que esta investigación intenta responder si la GADS conserva las propiedades psicométricas de la muestra normativa al aplicarla en la población chilena con SA. Se contó con una muestra no probabilística intencional compuesta por 36 sujetasen la fase piloto y 111 sujetos en la fase final. Las subescalas obtuvieron un alpha de Cronbach entre 0,73 y0,87, mientras que la escala global obtuvo 0,92. Se realizó un análisis factorial exploratorio, del cual se obtuvo una solución factorial de 8 factores en la fase final. Los resultados permiten concluir que la GADS cuenta con propiedades psicométricas adecuadas, lo que significa que es un instrumento confiable y válido para ser utilizado en la población chilena.

The Gilliam Asperger’s Disorder Scale (GADS) is a norm-referenced assessment designed to help professionals in Asperger Syndrome (AS) diagnosis. This scale is used to evaluate subjects between 3 and 22 years old and it can be completed by anyone who has regular contact with a subject with AS. The only known psychometric studies with positive results are those of the normative sample. Thus this research attempts to explain whether GADS retains the psychometric properties of the normative sample when applied to the Chilean population with AS. To this purpose it was selected a probabilistic intentional sample compose of 36 subjects in the pilot phase and 111 subjects in the final phase. The subscales obtained a Cronbach’s alpha between 0,73 and 0,87, while the global scored 0,92. It was carried out an exploratory factor analysis, thought which it was obtained a factor solution of 8 in the final phase. The results obtained allow to conclude that GADS has adequate psychometric properties, which means GADS is a valid and reliable instrument to be applied to Chilean population.

Comparison of pausing behavior in children who stutter and children who have Asperger syndrome.

PURPOSE: The objective of this research was to compare the number and types of grammatical and non-grammatical silent pauses presented by stutterers and subjects with Asperger syndrome in their narratives. METHOD: Ten children who stutter and four participants with Asperger syndrome (mean ages of both groups 10 years) were assessed at the Speech and Language Disorders Department of the Universidade Federal de São Paulo/Brasil. They narrated a story based on a pre-selected sequence of pictures. They were filmed and their productions were analyzed using version 5.0.47 of Praat (http://www.fon.hum.uva.nl/praat/download_win.html). Silent intervals in the speech that ranged from 0.25 to 4s were considered pauses. The pauses were classified as grammatical and non-grammatical, depending on the words that preceded and followed them. RESULTS: Both groups presented grammatical and non-grammatical pauses and the former predominated. The children with Asperger syndrome produced a greater number of pauses than the stutterers. EDUCATIONAL OBJECTIVES: The reader will be able to: (1) characterize the use of pauses in the oral narrative; (2) distinguish a grammatical pause from a non-grammatical pause regarding the use and function; (3) recognize the pattern of pause found in the two populations.

Adaptación, aplicación y evaluación de un programa en reconocimiento, manejo y expresión de emociones en niños con Síndrome de Asperger y sus padres / Adaptation, implementation and evaluation of a program in recognition, management and expression of emotions in children with Asperger Syndrome and their parents

El Síndrome de Asperger (SA) es un trastorno generalizado del desarrollo en el cual se encuentran afectadas diversas áreas de funcionamiento en el niño. En el área del desarrollo socio-emocional se encuentran algunas de sus principales dificultades, donde se describe un déficit en la regulación emocional, es decir en los niños con este síndrome, se aprecian dificultades tanto en el reconocimiento, como la expresión y manejo de las emociones. Lo que implica consecuencias negativas tanto en su desarrollo personal como en la interacción con pares y adultos. Es por esto que el presente artículo describe la adaptación al contexto nacional, del programa Exploring Feelings de Tony Attwood, centrado en la exploración emocional, la implementación experimental y la evaluación de resultados de éste. A través de este estudio se espera aportar a la escasa evidencia disponible acerca de tratamientos psicológicos con niños con SA, junto con aportar con técnicas terapéuticas, basadas en la evidencia y especialmente diseñadas para niños con SA, que queden disponibles para profesionales de la salud mental. El programa realizado para efectos de esta investigación consiste en 10 sesiones individuales de terapia cognitivo-conductual realizadas a 10 niños entre 8 y 12 años con SA, y 6 sesiones grupales de carácter psicoeducativo con los padres Los resultados indicaron diferencias estadísticamente significativas entre el grupo experimental y control, en donde en el primer grupo se obtuvieron cambios tanto en el aumento de la frecuencias de conductas observadas por los padres que implicaban una mejor regulación emocional, como en la cantidad y calidad de las respuestas otorgadas por los niños que implicaban un mejor manejo de la ansiedad y la rabia.

Asperger Syndrome (AS) is a pervasive developmental disorder in which there are affected several functional areas. Some of the main difficulties are located in the socio-emotional developmental area, and there are some descriptions about a deficit in emotion regulation, in children with this syndrome can be seen difficulties both in the recognition, the expression and control of emotions. This problem brings negative consequences in the personal development of the child, and also in the interaction with peers and adults. That is the reason this article describes the adaptation of Exploring Feelings by Tony Attwood to the national context, focusing on emotional exploration, experimental implementation and evaluation of outcome. This study is expected to contribute to the limited available evidence about psychological treatments with children with AS, and also to provide therapeutic evidence-based techniques, specially designed for children with AS, which are available for mental health professionals. The program made for the purpose of this research consists of 10 individual sessions of cognitive-behavioral therapy conducted for 10 children between 8 and 12 with AS, and 6 psychoeducational group sessions with parents. The results indicated statistically significant differences between the experimental and control group, where the first group had changes in the increased frequency of behaviors observed by parents involving a better emotional regulation, and the quantity and quality of answers given by children involving better management of anxiety and anger.

[Two main mistakes in classificatory and clinical function of DSM-IV, in the case of differential diagnosis between Asperger and autistic disorder]. / Dos errores basales en la función clasificatoria y clínica del DSM-IV respecto del diagnóstico diferencial entre Trastorno Autista y Trastorno de Asperger.

Symptomatic description of what the DSM-IV understands for Asperger's and Autistic Disorder was analyzed. As a result of this revision there was found that a great amount of diagnostic criteria overlap, and lead to the impossibility to make a clear differential diagnosis. The classifying function is, thus, criticized. The clinical function of this diagnostic distinction is analyzed through a clinical case. It is shown it's lack of utility when a therapeutic method should be implemented in a case of Autistic Disorder. It is concluded that the statistical value of the results obtained by using this classificatory instrument should be examined due to this lack of distinction. Also, according to the therapeutic approach witch the author makes reference, it is shown that the diagnostic of any both disorders does not modify the general intervention strategy.

Aspectos explicativos de comorbilidad en los TGD, el síndrome de Asperger y el TDAH: estado de la cuestión / Explanatory aspects of comorbidity in PDD, Asperger syndrome and ADHD: the current state

El presente artículo revisa la evidencia científica reciente sobre los aspectos comórbidos de los Trastornos Generalizados del Desarrollo (TGD), especialmente los tipos de alto funcionamiento, y el Trastorno por Déficit de Atención con Hiperactividad (TDAH). Se comentan varios estudios desde diferentes perspectivas (epidemiología, investigación neurocognitiva y genética). Finalmente, las áreas investigadas coinciden en la necesidad de reformular los criterios diagnósticos del DSM-IV y la CIE-10 en futuras clasificaciones de los TGD.

The present article reviews the recent scientific evidence about the comorbid aspects of Pervasive Developmental Disorders (PDD), especially high-functioning types, and Attention-Deficit Hyperactivity Disorder (ADHD). Several studies from different perspectives (epidemiology, neurocognitive research and genetics) are discussed. Finally, the investigated areas coincide with the need to reformulate the DSM-IV and the ICD-10 diagnostic criteria in future classifications of PDD.

Potencial de disparidad: [revisión] / Mismatch negativity: [revision]

El potencial de disparidad o mismatch negativity (MMN) corresponde a la respuesta eléctrica extraída del electroencefalograma que se produce frente a diversos cambios de las características del estímulo acústico. Se obtiene presentando al sujeto una secuencia de estímulos repetitivos de características acústicas similares (estímulo estándar) alternado en forma aleatoria con estímulos acústicos discrepantes que difieren del primero en alguno de sus atributos (estímulo discrepante). El MMN se originaría en la corteza auditiva primaria y se ha logrado registrar desde el nacimiento. No requiere la atención del sujeto, permitiendo evaluar en forma objetiva la discriminación de tonos y fonemas. En clínica se ha utilizado en evaluación del procesamiento auditivo central, pacientes con dislexia o trastorno específico del lenguaje, autismo, individuos con implante coclear e incluso en pacientes en coma. En el presente artículo se revisan las principales características, origen anatómico y utilidad clínica del MMN.

The mismatch negativity (MMN) is a specific component of the auditory event-related brain potentials. It is elicited by an infrequent, physically deviant sound (deviant-stimulus) occurring in a sequence of homogeneous repetitive sounds (standard-stimulus). MMN is probably generated in the primary auditory cortex and it has been successfully recorded in newborns. The MMN can be elicited even in the absence of attention and it can be used as an objective method to assess tone and phoneme discrimination. Some clinical applications of MMN are: evaluation of central auditory processing, patients with dyslexia or language specific disorders, autism, cochlear implant - users and even in prognosis of coma. In this article the main characteristics, origin and clinical applications of the MMN are reviewed.

Desarrollo social en niños / Social development in children

Durante el desarrollo social los niños atraviesan etapas como mira, sonríe, ríe, imita, señala, voltea, muestra y juega, que se presentan a edades más o menos predecibles. El conocer y memorizar estas etapas le permitirá al pediatra decidir cuándo derivar al niño a una evaluación más formal.

During the social development the children pass through stages as looks, smiles, laughs, mimics, indicates, turns, shows and plays, which are presented more or less predictable ages. Knowing and memorize these steps will enable the pediatrician to decide when to refer a child to amore formal evaluation.

[The use of verbal communicative abilities to increase the mean length of utterance in high-functioning autism and Asperger Syndrome]. / O uso de habilidades comunicativas verbais para aumento da extensão de enunciados no autismo de alto funcionamento e na S índrome de Asperger.

BACKGROUND: high-functioning autism (HFA) and Asperger Syndrome (AS) are pervasive developmental disorders that present alterations in the communicative and social skills. AIM: to use verbal communicative skill strategies (VCS) to increase the mean length of utterance (MLU) produced by individuals with HFA and AS. METHOD: participants were three 12-year-old males with HFA or AS. Data was collected from videotape recordings of structured verbal interaction sessions with the researcher and each participant during eight months. In order to verify the effects of the intervention, a multiple baseline research design across the participants was used, being composed by two phases: baseline (BL) and intervention (I). In the BL phase, spontaneous interaction situations occurred between the researcher and each participant. In the first phase of I, the intervention sessions occurred twice a week and gradually worked their way to once a week, but only after each participant had reached the goal of increasing the MLU. The number of sessions decreased gradually to avoid any drop in performance. The strategies which were used were divided in blocks of activities: spontaneous conversation; activities involving specific language difficulties; games with rules; story/report telling; and meta-linguistic activities. RESULTS: the application of the proposed strategies for verbal communicative abilities achieved the purpose of increasing the MLU of all three participants. CONCLUSION: suggestions are made for further researches that investigate the maintenance of the results in other environments and during the interaction with different communication partners.

Epidemiological findings of pervasive developmental disorders in a Venezuelan study.

The study aims to determine the prevalence of autism spectrum disorders (ASDs) for children receiving services in Maracaibo County, Venezuela. Children aged 3-9 with diagnosis of any ASD were recruited. We ascertained area, referral process, and definitions of ASD for each patient. A total of 430 children were identified, and 76.5 percent were boys. Prevalences were 1.7 per 1000 for all ASD, 1.1 per 1000 for autism, and 0.6 per 1000 for PDD-NOS and Asperger syndrome combined. These prevalences are lower than current reports in the literature. Differences in case-finding methods, diagnostic criteria, and lack of awareness in the general population may have influenced the number of cases identified. An ASD prevalence of 1.7 per 1000 should alert the health and education authorities to the need to reassess the services available for children with these disorders and their families.

O uso de habilidades comunicativas verbais para aumento da extensão de enunciados no autismo de alto funcionamento e na S índrome de Asperger / The use of verbal communicative abilities to increase the mean length of utterance in high-functioning autism and Asperger Syndrome

TEMA: o autismo de alto funcionamento (AAF) e a síndrome de Asperger (SA) são transtornos globais do desenvolvimento que apresentam alterações nas habilidades comunicativas e sociais. OBJETIVO: o objetivo desta pesquisa foi promover o aumento da extensão média dos enunciados (EME) produzidos por indivíduos com AAF e SA por meio de estratégias que utilizavam habilidades comunicativas verbais (HCV). MÉTODO: participaram deste estudo três indivíduos com AAF ou SA do gênero masculino, com doze anos. Os dados foram coletados mediante gravações em vídeo de sessões estruturadas de interação verbal entre cada participante e a pesquisadora durante oito meses. Foi utilizado um delineamento experimental de linha de base múltipla cruzando com sujeitos, composto por duas fases: linha de base (LB) e intervenção (I). Na LB, ocorreram situações espontâneas de interação adulto e cada participante. Na primeira fase da I, inicialmente foram realizadas sessões duas vezes por semana e só se passava para a realização de sessões semanais após o indivíduo alcançar o objetivo de aumentar a EME. Houve a diminuição gradual do número de sessões, para que não houvesse queda no desempenho. As estratégias aplicadas foram divididas em blocos atividades com conversa espontânea; atividades que envolvessem dificuldades específicas de linguagem; jogos de regras; solicitações de relatos de histórias ou acontecimentos e atividades metalingüísticas. RESULTADOS: os resultados demostraram que a utilização de HCV foi efetiva para promover o aumento da EME. CONCLUSÃO: ficam sugestões para outras pesquisas que investiguem a manutenção dos resultados obtidos em outros ambientes e em interação com vários interlocutores.

BACKGROUND: high-functioning autism (HFA) and Asperger Syndrome (AS) are pervasive developmental disorders that present alterations in the communicative and social skills. AIM: to use verbal communicative skill strategies (VCS) to increase the mean length of utterance (MLU) produced by individuals with HFA and AS. METHOD: participants were three 12-year-old males with HFA or AS. Data was collected from videotape recordings of structured verbal interaction sessions with the researcher and each participant during eight months. In order to verify the effects of the intervention, a multiple baseline research design across the participants was used, being composed by two phases: baseline (BL) and intervention (I). In the BL phase, spontaneous interaction situations occurred between the researcher and each participant. In the first phase of I, the intervention sessions occurred twice a week and gradually worked their way to once a week, but only after each participant had reached the goal of increasing the MLU. The number of sessions decreased gradually to avoid any drop in performance. The strategies which were used were divided in blocks of activities: spontaneous conversation; activities involving specific language difficulties; games with rules; story/report telling; and meta-linguistic activities. RESULTS: the application of the proposed strategies for verbal communicative abilities achieved the purpose of increasing the MLU of all three participants. CONCLUSION: suggestions are made for further researches that investigate the maintenance of the results in other environments and during the interaction with different communication partners.

[Pervasive developmental disorders. Clinical and genetics aspects]. / Trastornos generalizados del desarrollo. Aspectos clínicos y genéticos.

Pervasive developmental disorders (PDD) encompass a heterogeneous group of children with deficits of verbal and non-verbal language, social communication, and with a restricted repertoire of activities or repetitive behaviours. The frequency in general population is considered 27.5/10,000. In this study, we analyzed the clinical and genetic aspects of Autism, Asperger Syndrome, PDD Not Otherwise Specified, Rett Syndrome and Childhood Disintegrative Disorder. We analyzed clinical, behavioural and neuropsychological features. We revised different medical genetics associated conditions and divided the genetics aspects of pervasive developmental disorders into two groups: Syndromic forms (around 20%) and non syndromic forms (currently proposed to be 80%). The early recognition of pervasive developmental disorders and the diagnosis of specific associated syndromes allow early therapy, correct genetic counselling, and follow up anticipating possible complications related to the entity. Finally, although the genetic bases of autism have not yet been identified, the following candidate genes have been proposed: 15q, 2q, 17q, 7q, 12q, and X related genes, among others; which are analyzed in this study and will allow a better understanding of these disorders in the future.

[Non-autistic pervasive developmental disorders: Rett syndrome, disintegrative disorder and pervasive developmental disorder not otherwise specified]. / Transtornos invasivos do desenvolvimento não-autísticos: síndrome de Rett, transtorno desintegrativo da infância e transtornos invasivos do desenvolvimento sem outra especificação.

The category "Pervasive Developmental Disorders" includes autistic disorder, Asperger's syndrome, Rett's syndrome, childhood disintegrative disorder, and a residual category, named pervasive developmental disorder not otherwise specified. In this review, Rett's syndrome and childhood disintegrative disorder, which are well-defined categories, will be discussed, as well as the not well defined categories that have been included in the Pervasive Developmental Disorder Not Otherwise Specified group. Different proposals of categorization have been created, some of which based on descriptive phenomenological approach, and others based upon other theoretical perspectives, such as neuropsychology. Current proposals are presented and discussed, followed by critical appraisals on the clinical advantages and disadvantages of these concepts.

[Autism and Asperger syndrome: an overview]. / Autismo e síndrome de Asperger: uma visão geral.

Autism and Asperger syndrome are diagnostic entities in a family of neurodevelopmental disorders disrupting fundamental processes of socialization, communication and learning, collectively known as pervasive developmental disorders. This group of conditions is among the most common developmental disorders, affecting 1 in every 200 or so individuals. They are also the most strongly genetically related among developmental disorders, with recurrence risks within sibships of the order of 2 to 15% if a broader definition of affectedness is adopted. Their early onset, symptom profile, and chronicity implicate fundamental biological mechanisms involved in social adaptation. Advances in their understanding are leading to a new social neuroscience perspective of normative socialization processes and specific disruptions thereof. These processes may lead to the emergence of the highly heterogeneous phenotypes associated with autism, the paradigmatic pervasive developmental disorder, and its variants. This overview focuses on the history, nosology, and the clinical and associated features of the two most well-known pervasive developmental disorders - autism and Asperger syndrome.

Autismo e síndrome de Asperger: uma visão geral / Autism and Asperger syndrome: an overview

Autismo e síndrome de Asperger são entidades diagnósticas em uma família de transtornos de neurodesenvolvimento nos quais ocorre uma ruptura nos processos fundamentais de socialização, comunicação e aprendizado. Esses transtornos são coletivamente conhecidos como transtornos invasivos de desenvolvimento. Esse grupo de condições está entre os transtornos de desenvolvimento mais comuns, afetando aproximadamente 1 em cada 200 indivíduos. Eles estão também entre os com maior carga genética entre os transtornos de desenvolvimento, com riscos de recorrência entre familiares da ordem de 2 a 15 por cento se for adotada uma definição mais ampla de critério diagnóstico. Seu início precoce, perfil sintomático e cronicidade envolvem mecanismos biológicos fundamentais relacionados à adaptação social. Avanços em sua compreensão estão conduzindo a uma nova perspectiva da neurociência ao estudar os processos típicos de socialização e das interrupções específicas deles advindas. Esses processos podem levar à emergência de fenótipos altamente heterogêneos associados ao autismo, o paradigmático transtorno invasivo de desenvolvimento e suas variantes. Esta revisão foca o histórico, a nosologia e as características clínicas e associadas aos dois transtornos invasivos de desenvolvimento mais conhecidos - o autismo e a síndrome de Asperger.

Transtornos invasivos do desenvolvimento não-autísticos: síndrome de Rett, transtorno desintegrativo da infância e transtornos invasivos do desenvolvimento sem outra especificação / Non-autistic pervasive developmental disorders: Rett syndrome, disintegrative disorder and pervasive developmental disorder not otherwise specified

A categoria "transtorno invasivos do desenvolvimento" inclui o autismo, a síndrome de Asperger, a síndrome de Rett, o transtorno desintegrativo da infância e uma categoria residual denominada transtornos invasivos do desenvolvimento sem outra especificação. Nesta revisão, a síndrome de Rett e o transtorno desintegrativo da infância, que são categorias bem definidas, serão discutidas, assim como as categorias não tão bem definidas que foram incluídas no grupo transtornos invasivos do desenvolvimento sem outra especificação. Diferentes propostas de categorização têm sido feitas, algumas baseadas em abordagem fenomenológica descritiva, outras baseadas em outras perspectivas teóricas, tais como a neuropsicologia. As propostas atuais são apresentadas e discutidas, seguidas por avaliações críticas sobre as vantagens e desvantagens desses conceitos.

[Asperger syndrome. Diagnosis criteria and clinical picture]. / Síndrome de Asperger. Criterios diagnósticos y cuadro clínico.

Asperger syndrome (A.S) is not a very well-known disorder due to its recent incorporation to the international nosography of mental disorders during the early 90s. The intention of this article is to describe the clinical picture with its symptomatic diversity. It will show how the diagnostic criteria were developed since the presentation by Asperger in 1944, to the classification consensed nowadays. It also presents the situations in which this diagnosis is most frequent to facilitate its detection and to permit a more extensive assessment leading to a more accurate treatment.