The eye-tracking of social stimuli in patients with Rett syndrome and autism spectrum disorders: a pilot study / Rastreamento do olhar para estímulos sociais em pacientes com síndrome de Rett e transtornos do espectro do autismo: estudo piloto

Objective To compare visual fixation at social stimuli in Rett syndrome (RT) and autism spectrum disorders (ASD) patients. Method Visual fixation at social stimuli was analyzed in 14 RS female patients (age range 4-30 years), 11 ASD male patients (age range 4-20 years), and 17 children with typical development (TD). Patients were exposed to three different pictures (two of human faces and one with social and non-social stimuli) presented for 8 seconds each on the screen of a computer attached to an eye-tracker equipment. Results Percentage of visual fixation at social stimuli was significantly higher in the RS group compared to ASD and even to TD groups. Conclusion Visual fixation at social stimuli seems to be one more endophenotype making RS to be very different from ASD. .

Objetivo Comparar a fixação visual em estímulos sociais em pacientes com síndrome de Rett (SR) e com transtornos do espectro do autismo (TEA). Método Fixação visual em estímulos sociais foi analisada em 14 pacientes do sexo feminino com SR (idades entre 4 e 30 anos), 11 pacientes do sexo masculino com TEA (idades entre 4 e 20 anos), e 17 crianças do sexo feminino com desenvolvimento típico (DT). Os participantes foram expostos a três figuras diferentes (duas figuras de faces humanas e uma figura contendo estímulo social e não social) apresentadas por 8 segundos cada uma no monitor de um computador acoplado a um equipamento de rastreamento de olhar. Resultados A porcentagem de fixação visual em estímulos sociais foi significativamente maior no grupo SR do que no grupo TEA e mesmo no grupo DT. Conclusão A fixação visual em estímulos sociais parece ser mais um dos endofenótipos que esclarecem as diferenças entre SR e TEA. .

Abnormal Brain Activity in Social Reward Learning in Children with Autism Spectrum Disorder: An fMRI Study

PURPOSE: We aimed to determine whether Autism Spectrum Disorder (ASD) would show neural abnormality of the social reward system using functional MRI (fMRI). MATERIALS AND METHODS: 27 ASDs and 12 typically developing controls (TDCs) participated in this study. The social reward task was developed, and all participants performed the task during fMRI scanning. RESULTS: ASDs and TDCs with a social reward learning effect were selected on the basis of behavior data. We found significant differences in brain activation between the ASDs and TDCs showing a social reward learning effect. Compared with the TDCs, the ASDs showed reduced activity in the right dorsolateral prefrontal cortex, right orbitofrontal cortex, right parietal lobe, and occipital lobe; however, they showed increased activity in the right parahippocampal gyrus and superior temporal gyrus. CONCLUSION: These findings suggest that there might be neural abnormality of the social reward learning system of ASDs. Although this study has several potential limitations, it presents novel findings in the different neural mechanisms of social reward learning in children with ASD and a possible useful biomarker of high-functioning ASDs.

Evaluation of the theory of mind in autism spectrum disorders with the Strange Stories test / Avaliação de teoria da mente nos transtornos do espectro do autismo com a aplicação do teste Strange Stories

Objective To evaluate the theory of mind in autism spectrum disorders (ASD) and control individuals by applying the Strange Stories test that was translated and adapted to the Portuguese language. Method Twenty-eight children with ASD and 56 controls who were all male and aged between 6 and 12 years participated in the study. Results There were significant differences between the median scores of the groups for each of the 12 stories of the test and for the sum total of all the median scores. The median scores for all stories were significantly greater in the control group than those in the experimental group (children with ASD). In addition, the protocol had excellent internal consistency. Conclusion The theory of mind skills assessed with the Strange Stories test indicated alterations in children with ASD compared with children in the control group. .

Objetivo Avaliação de habilidades de Teoria da Mente em indivíduos com Transtornos do Espectro do Autismo (TEA) e indivíduos-controle, com a aplicação do teste Strange Stories , traduzido e adaptado para a Língua Portuguesa. Método Participaram do estudo 28 crianças com TEA e 56 crianças-controle, todas do sexo masculino e na faixa etária entre seis e 12 anos. Resultados Foram observadas diferenças significativas entre os escores médios dos grupos em cada uma das 12 histórias do teste e na soma dos escores de todas as histórias. Os escores médios registrados para todas as histórias foram significativamente maiores no grupo-controle do que no grupo experimental (crianças com TEA). Observou-se ótima consistência interna do protocolo. Conclusão As habilidades de Teoria da Mente avaliadas pelo teste Strange Stories se mostraram alteradas no grupo de crianças com TEA quando comparadas às crianças do grupo-controle. .

Autismo y epigenética. Un modelo de explicación para la comprensión de la génesis en los trastornos del espectro autista / [Autism and epigenetics. A model of explanation for the understanding of the genesis in autism spectrum disorders].

Autism spectrum disorders are characterized by impairment of social integration and language development and restricted interests. Autism spectrum disorders manifest during childhood and may have a varying clinical expression over the years related to different therapeutic approaches, behavior-modifying drugs, and environmental factors, among others. So far, the genetic alterations identified are not sufficient to explain the genesis of all these processes, as many of the mutations found are also present in unaffected individuals. Findings on the underlying biological and pathophysiological mechanisms of entities strongly associated with autism spectrum disorders, such as Rett, fragile X, Angelman, and fetal alcohol syndromes, point to the role of epigenetic changes in disorders of neurodevelopment. Epigenetic phenomena are normal biological processes necessary for cell and thus human life, especially related to embryonic development. Different phenomena that affect epigenetic processes (changes that change operation or expression of a gene, without modifying the DNA structure) have also been shown to be important in the genesis of neurodevelopmental disorders. Alterations in the epigenetic mechanism may be reversible, which may explain the variation in the autism phenotype over time. Here we analyze the normal epigenetic mechanisms, autism spectrum disorders, their association with specific entities associated with altered epigenetic mechanisms, and possible therapeutic approaches targeting these alterations.

Evolución de los niños con retraso del desarrollo y conductas del espectro autista / [Follow up of patients with developmental delay and autistic spectrum disorders].

The evolution of autism symptoms during life were revised, from childhood to adulthood. Little information is available. After a search in PubMed, no more than 40 publications address this issue. The review was divided into two parts: a) how change the three main symptoms of autism change; b) how change the other autism-associated symptoms. The three main symptoms, called "Triad of Wing" (communication problems, social skills deficits, and a restricted repertoire of interests) do not change significantly during lifetime. The diagnosis of autism remains stable during lifetime, and 80

of children continue with this diagnosis in adulthood. Furthermore, it is difficult to establish first diagnostic of autism in adults. In relation to the associated symptoms, one of the earliest are sleep disturbances and one of the most prevalent is both bipolar and anxiety disorders. Sleep disturbances are age-limited and disappear easily. Bipolar disorders are usually more severe in children with autism when compared to children without autism. The mood transitions are faster in autistic children. Anxiety is usually more intense in cognitive preserved autistic patients and tends to increase with age. The two main prognostic factors for autism in adults are: a) total IQ above 70. b) functional language before 6 years of age.

Trastorno del espectro autista y trastorno específico del lenguaje ¿Dos entidades diferentes o un continuo de manifestaciones neuropsicológicas? / [Autism spectrum disorder and specific language disorder. Are two different entities or a continuum of neuropsychological manifestations?].

Follow-up of children with delayed language development underscores the fact that, in several cases, language difficulties coexist with other symptoms such as social behavior changes. Autism spectrum disorder (ASD) and language specific disorder (LSD) are developmental disorders that are defined differently, but have some common language and social behavior characteristics which impose diagnostic difficulties. For this reason it is believed that they may share not only symptomatic but also ethiological aspects. With that in mind, we performed a literature search of works that discussed and, with their results, clarified this issue. Although several studies have allowed clearer and frequent diagnosis of both ASD and LSD, many cases persist in which the question in this article’s title cannot be clearly answered, especially in children younger than two years of age.

Social cognitive performance and different communication settings in groups of children with different disorders / Desempenho sócio-cognitivo e diferentes situações comunicativas em grupos de crianças com diagnósticos distintos

PURPOSE: To investigate the social-cognitive performance of children with diagnostics of autism spectrum disorder (ASD), mental disability (MD) and hearing impairment (HI) in two different communicative situations. METHODS: Participated in this study 30 children ages between 3 and 12 years starting speech language therapy processes, divided in three groups: Group 1 - ten children with diagnoses included in the Autism Spectrum Disorders (ASD); Group 2: ten children diagnosed with mental disabilities (MD) and Group 3: ten children diagnosed with hearing impairment (HI). The subjects were assessed in two different communicative situations (group and individual therapy situation) for 12 months. RESULTS: Data regarding the performance of the three groups in the two situations show that G3 had better absolute performance when compared with other groups, with the variable symbolic play as an important differential criterion for the three groups. CONCLUSION: We conclude that the social-cognitive performance can be used as an auxiliary tool for intervention, helping the identification of variables that could interfere in the communicative performance.

OBJETIVO: Verificar o desempenho sócio-cognitivo de crianças com diagnósticos inseridos nos distúrbios do espectro do autismo (DEA), deficiência mental (DM) e deficiência auditiva (DA) em duas diferentes situações comunicativas. MÉTODOS: Participaram desta pesquisa 30 crianças, entre 3 e 12 anos de idade, em início de atendimento fonoaudiológico, que foram divididas em três grupos: Grupo 1: dez crianças com diagnóstico inserido nos distúrbios do espectro do autismo (DEA); Grupo 2: dez crianças com diagnóstico de deficiência mental (DM); Grupo 3: dez crianças com diagnóstico dentro do grupo de deficiência auditiva (DA). Os sujeitos foram analisados em duas situações comunicativas distintas (situação em grupo e situação individual de terapia), durante 12 meses. RESULTADOS: O grupo composto por crianças e adolescentes com diagnóstico de deficiência auditiva apresentou melhor desempenho absoluto quando comparado com os outros grupos, sendo a variável jogo simbólico um importante critério diferencial nos três grupos. CONCLUSÃO: O desempenho sócio-cognitivo pode ser utilizado como instrumento auxiliar no planejamento terapêutico, facilitando a identificação de variáveis que possam interferir no desempenho comunicativo.

Saccadic movements using eye-tracking technology in individuals with autism spectrum disorders: pilot study / Movimentos sacádicos de indivíduos do espectro autista por varredura visual: estudo piloto

OBJECTIVE: To verify differences in the visual scanning strategies between pervasive developmental disorders (PDD) and controls when they are observing social and non-social pictures. METHOD: PDD group (PDDG) comprised by 10 non-retarded subjects (age from 4 to 41) and age-matched control group (CG). Nine social pictures with human beings (including two pictures of cat mask), and 3 nonsocial pictures of objects were presented for 5 seconds. Saccadic movements and fixation were recorded with equipment EyeGaze® (LC Technologies Inc.). RESULTS: PDDG (mean=292.73, SE=67.62) presented longer duration of saccadic movements for social pictures compared to CG (mean=136.06, SE=14.01) (p=0.04). The CG showed a higher number of fixations in the picture 7 (a women using a cat mask, with the eyes erased) (CG: mean=3.40; PDDG: mean=1.80; p=0.007). CONCLUSION: The results suggest differences in strategies that PDD explore human picture. Moreover, these strategies seem not to be affected by the lack of expected part of the face (the eyes.

OBJETIVO: Verificar diferenças nas estratégias de varredura visual de indivíduos com transtorno invasivo do desenvolvimento (TID) comparados a controles normais na observação de figuras sociais e não sociais. MÉTODO: Estudo caso-controle. Grupo TID: dez sujeitos com TID, inteligência normal e idade entre 4 e 41 anos; Grupo Controle: dez sujeitos pareados por idade. Os sujeitos observaram por 5 segundos 9 figuras de seres humanos e 3 figuras de objetos. Os movimentos sacádicos e o número de fixações foram gravados em equipamento EyeGaze® (LC Technologies Inc.). RESULTADOS: O grupo TID apresentou maior duração dos movimentos sacádicos na observação de figuras humanas [TID=292,73 (EP=67,62); controle= 136,06 (EP=14,01); p=0,04]. O grupo controle apresentou maior número de fixações na figura 7 (mulher com máscara de gato sem os olhos) (TID=1,8; controle=3,4; p=0,007). CONCLUSÃO: Indivíduos com TID parecem utilizar estratégias diferentes para explorar figura humana. Além disso, o padrão de investigação deles não se modifica quando observam uma figura que rompe com o esperado (a falta dos olhos.

Psicoses desintegrativas / Desintegrative psychoses

As psicoses desintegrativas foram incluídas na CID-9, como sinônimo de síndrome de Hedler, e assim permaneceu na CID. Foram descritas como psicoses que apareceriam após cerca de 2 anos de desenvolvimento normal. Apresentariam uma regressäo em poucos meses, tornando-se, as crianças, retardadas, autistas, hiperativas, com padröes estereotipados de respiraçäo, estereotipias manuais e marcha atáxica. Essa síndrome, no entanto, pode ocorrer nas mais variadas condiçöes clínicas. Estudando atentamente as psicoses desintegrativas, iremos ver que elas se superpöem, perfeitamente, à síndrome psicorgânica de Eugen Bleutler, näo sendo clinicamente correto, pois, considerá-las apenas como psicoses infantis, pois podem ocorrer em indivíduos de qualquer faixa etária