ABSTRACT
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.
Subject(s)
Child Development Disorders, Pervasive/physiopathology , Eye/physiopathology , Fixation, Ocular/physiology , Rett Syndrome/physiopathology , Visual Perception/physiology , Adolescent , Adult , Age Factors , Analysis of Variance , Child , Child, Preschool , Face , Female , Humans , Male , Pilot Projects , Social Perception , Time Factors , Young AdultABSTRACT
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. .
Subject(s)
Adolescent , Adult , Child , Child, Preschool , Female , Humans , Male , Young Adult , Child Development Disorders, Pervasive/physiopathology , Eye/physiopathology , Fixation, Ocular/physiology , Rett Syndrome/physiopathology , Visual Perception/physiology , Age Factors , Analysis of Variance , Face , Pilot Projects , Social Perception , Time FactorsABSTRACT
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. .
Subject(s)
Child , Humans , Male , Child Development Disorders, Pervasive/physiopathology , Neuropsychological Tests , Theory of Mind/physiology , Age Factors , Analysis of Variance , Case-Control Studies , Child Development Disorders, Pervasive/diagnosis , Interpersonal Relations , Reference Values , Reproducibility of Results , Social Perception , Surveys and QuestionnairesABSTRACT
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.
Subject(s)
Child Development Disorders, Pervasive/physiopathology , Neuropsychological Tests , Theory of Mind/physiology , Age Factors , Analysis of Variance , Case-Control Studies , Child , Child Development Disorders, Pervasive/diagnosis , Humans , Interpersonal Relations , Male , Reference Values , Reproducibility of Results , Social Perception , Surveys and QuestionnairesABSTRACT
Neste artigo, são abordados conceitos, processos e habilidades relativos à cognição social no curso típico do desenvolvimento, bem como são indicadas condições atípicas que se associam a déficits nesses processos e habilidades.(AU)
Concepts, processes and abilities involved with social cognition in typical development are focused on, and atypical conditions associated with deficits in such processes and abilities are indicated as well.(AU)
Subject(s)
Self Concept , Interpersonal Relations , Empathy , Developmental DisabilitiesABSTRACT
Neste artigo, são abordados conceitos, processos e habilidades relativos à cognição social no curso típico do desenvolvimento, bem como são indicadas condições atípicas que se associam a déficits nesses processos e habilidades.
Concepts, processes and abilities involved with social cognition in typical development are focused on, and atypical conditions associated with deficits in such processes and abilities are indicated as well.
Subject(s)
Humans , Self Concept , Developmental Disabilities , Empathy , Interpersonal RelationsABSTRACT
Os transtornos globais do desenvolvimento (TGD) são caracterizados por anormalidades qualitativas e abrangentes em três domínios do desenvolvimento: interação social recíproca, comunicação e presença de um repertório comportamental de interesses restritos, repetitivo e estereotipado. Estudos genéticos têm identificado a recorrência de TGD numa mesma família. O presente estudo teve por objetivo rastrear a ocorrência de sinais e sintomas de TGD em irmãos de indivíduos com esse diagnóstico. Participaram do estudo 25 sujeitos provenientes de 19 famílias. A coleta de dados foi realizada mediante a utilização da versão brasileira do Autism Screening Questionnaire (ASQ), ou Questionário de Comportamento e Comunicação Social. Foram confirmados dois casos de irmãos com TGD (10,52 por cento dos casos), sendo um irmão gêmeo monozigótico e um irmão de um probando com diagnóstico de síndrome de Asperger. Os dados apontam para taxas mais elevadas do que aquelas descritas na literatura (2-6 por cento) e se aproximam dos achados que relatam 10 por cento de recorrência familiar em gêmeos dizigóticos. Esse resultado fornece evidências de possíveis fatores neurogenéticos para explicar a ocorrência de TGD nos familiares dos probandos estudados e salienta a necessidade de efetuar o rastreamento desse transtorno não só na criança avaliada, mas também em seus irmãos.
Pervasive developmental disorders (PDD) are characterized by comprehensive and qualitative abnormalities affecting three areas of development: reciprocal social interaction, communication, and a repetitive, stereotyped behavioral repertoire, of limited interests. Genetic studies have identified the recurrence of PDD in the same family. The present study aimed to trace the occurrence of signs and symptoms of PDD in the siblings of patients with this diagnosis. The study included 25 subjects from 19 families. Data collection was performed using the Brazilian version of the Autism Screening Questionnaire (ASQ). Two cases of PDD in siblings were confirmed (10.52 percent of cases): a monozygotic twin brother and the brother of a proband with a diagnosis of Asperger syndrome. Our data indicate higher rates of PDD in siblings than described in the literature (2-6 percent), close to the findings that suggest a 10 percent rate of familial recurrence in dizygotic twins. This result provides evidence of possible neurogenetic factors to explain the occurrence of PDD in relatives of the probands assessed and underscores the need to screen not only the child under evaluation, but also their siblings.
ABSTRACT
OBJECTIVE: This systematic review sought to conduct a general analysis of the Brazilian scientific output on autism spectrum disorders (ASD) published between 2002 and 2009. METHODS: A literature search was conducted in the scientific databases PubMed, SciELO, and LILACS and in the CAPES portal, using keywords such as "autism" and "pervasive developmental disorders". RESULTS: A total of 93 articles were identified, most of which were authored by researchers from Southeast Brazil and affiliated with public universities. Approximately one-third of all articles were published in journals with an impact factor ranging from 0.441 to 3.211; most were based on small sample sizes. Furthermore, 140 theses and dissertations were identified, 82.1% of which were master's theses. Interventions for ASD were the predominant research topic. CONCLUSION: Brazilian researchers are clearly interested in the topic of ASD; however, a substantial portion of their scientific output is limited to doctoral dissertations or master's theses. A minority of articles was published in journals with a high impact factor. These findings suggest the need for studies with larger sample sizes, which could produce higher-impact findings and thus increase visibility of the Brazilian scientific output in the field of ASD research.
Subject(s)
Academic Dissertations as Topic , Biomedical Research/statistics & numerical data , Child Development Disorders, Pervasive , Periodicals as Topic/statistics & numerical data , Publishing/statistics & numerical data , Brazil , Child , Humans , Journal Impact FactorABSTRACT
BACKGROUND: Williams-Beuren Syndrome (WBS) is a genetic disorder caused by the deletion of multiples genes of long arm of chromosome 7 (region 7q11-23), which causes behavioral and intellectual disability. For the effectiveness of educational inclusion of these children, multidisciplinary approaches are needed to guide teachers and parents. AIM: to describe the behavioral, cognitive and language profiles and to identify autistic behavior in a group of children and adolescents with WBS. METHOD: 10 children and adolescents with WBS, aged 5 to 16 years, and 10 children and adolescents with typical development, matched by gender and age. Instruments used for assessment were: Nonverbal Intelligence Test (Leiter-R); Child Behavior Checklist (CBCL/1½-5; CBCL/6-18); Language Exam (TIPITI) and the Autism Screening Questionnaire (ASQ). RESULTS: the group with WBS presented a greater number of behavioral changes with more inattention and social problems. Regarding the Leiter-R scale the intelligence scores were below the average for age (67.8 points) in WBS. The control group (CG) scored into the average (101.2). The group with WBS presented discrepancy in the morphosyntactic structure as well as an increased number of echolalia in the subtests of TIPITI, when compared to the CG. CONCLUSION: based on the behavioral and cognitive problems found in individuals with WBS, the need for a multidisciplinary follow-up focused on cognitive stimulation and behavior control is confirmed, due to the interference of these characteristics in learning abilities.
Subject(s)
Child Behavior Disorders/diagnosis , Cognition Disorders/diagnosis , Language Disorders/diagnosis , Williams Syndrome/diagnosis , Adolescent , Analysis of Variance , Autistic Disorder/diagnosis , Case-Control Studies , Child , Child, Preschool , Humans , Intelligence , Phenotype , Williams Syndrome/psychologyABSTRACT
TEMA: a Síndrome de Williams-Beuren (SWB) é uma aneusomia segmentar devido à deleção de múltiplos genes no braço longo do cromossomo 7 (região 7q11-23) associada a alterações comportamentais e cognitivas. Para que a inclusão escolar dessas crianças seja eficaz são necessárias abordagens multidisciplinares que orientem professores e pais. OBJETIVO: descrever o perfil comportamental, cognitivo e de linguagem e identificar comportamentos autísticos em um grupo de crianças e adolescentes com SWB. MÉTODO: 10 crianças e adolescentes com diagnóstico clínico e/ou citogenético-molecular de SWB na faixa de 5 a 16 anos, e 10 crianças e adolescentes com desenvolvimento típico, pareados por sexo e idade. Instrumentos utilizados: Teste de Inteligência Não Verbal (Leiter-R); Inventário de Comportamentos para Crianças e Adolescentes - Child Behavior Checklist (CBCL/1½-5; CBCL/6-18); Exame de Linguagem (TIPITI) e o Autism Screening Questionaire (ASQ). RESULTADOS: o grupo com SWB demonstrou alterações comportamentais do tipo desatenção e problemas sociais em comparação com o grupo controle (GC). Na escala Leiter-R os escores de inteligência dos participantes com SWB foram abaixo da média para a idade (67,8 pontos) em comparação ao GC (101,2). O ASQ identificou um participante com comportamentos autísticos. O grupo com a síndrome apresentou defasagem na estruturação no nível morfossintático e elevado número de respostas ecolálicas nas provas do TIPITI, quando comparados ao GC. CONCLUSÃO: em função dos problemas comportamentais e cognitivos encontrados nos participantes com SWB confirma-se a necessidade de um acompanhamento multidisciplinar focado na estimulação cognitiva e controle comportamental, devido à interferência destas características na escolarização.
BACKGROUND: Williams-Beuren Syndrome (WBS) is a genetic disorder caused by the deletion of multiples genes of long arm of chromosome 7 (region 7q11-23), which causes behavioral and intellectual disability. For the effectiveness of educational inclusion of these children, multidisciplinary approaches are needed to guide teachers and parents. AIM: to describe the behavioral, cognitive and language profiles and to identify autistic behavior in a group of children and adolescents with WBS. METHOD: 10 children and adolescents with WBS, aged 5 to 16 years, and 10 children and adolescents with typical development, matched by gender and age. Instruments used for assessment were: Nonverbal Intelligence Test (Leiter-R); Child Behavior Checklist (CBCL/1½-5; CBCL/6-18); Language Exam (TIPITI) and the Autism Screening Questionnaire (ASQ). RESULTS: the group with WBS presented a greater number of behavioral changes with more inattention and social problems. Regarding the Leiter-R scale the intelligence scores were below the average for age (67.8 points) in WBS. The control group (CG) scored into the average (101.2). The group with WBS presented discrepancy in the morphosyntactic structure as well as an increased number of echolalia in the subtests of TIPITI, when compared to the CG. CONCLUSION: based on the behavioral and cognitive problems found in individuals with WBS, the need for a multidisciplinary follow-up focused on cognitive stimulation and behavior control is confirmed, due to the interference of these characteristics in learning abilities.
Subject(s)
Adolescent , Child , Child, Preschool , Humans , Child Behavior Disorders/diagnosis , Cognition Disorders/diagnosis , Language Disorders/diagnosis , Williams Syndrome/diagnosis , Analysis of Variance , Autistic Disorder/diagnosis , Case-Control Studies , Intelligence , Phenotype , Williams Syndrome/psychologyABSTRACT
OBJETIVOS: O presente estudo refere-se a uma revisão sistemática, cujo objetivo foi conduzir uma análise da produção científica de autores brasileiros sobre Transtornos do espectro autista (TEA), no período de 2002 a 2009. MÉTODOS: A busca bibliográfica foi realizada nas bases de dados: PUBMED, SciELO, LILACS e portal CAPES, incluindo diversos descritores, tais como autismo e transtorno invasivo do desenvolvimento. RESULTADOS: Um total de 93 artigos foi identificado, tendo sido publicados, sobretudo por autores da região Sudeste e de universidades públicas. Aproximadamente um terço dos artigos foi publicado em revistas com algum fator de impacto variando entre 0,441 e 3,211; sendo a maioria dos artigos baseada em amostras pequenas. Foram identificadas 140 dissertações e teses; 82,1 por cento eram dissertações de mestrado. O principal tema de pesquisa abordado neste material relacionou-se a programas de intervenção para TEA. CONCLUSÃO: Esta revisão mostra o interesse de pesquisadores brasileiros na temática dos TEA, entretanto, uma parte considerável dessa produção científica se concentra em dissertações/teses e a minoria em artigos científicos publicados em revistas com elevado fator de impacto. Os resultados desta revisão sistemática mostram a necessidade de novos estudos com amostras maiores que levariam a um maior impacto e visibilidade da produção científica brasileira relativa aos TEA.
OBJECTIVE: This study is a systematic review aiming to conduct a general analysis of the scientific production covering publications of Brazilian authors about ASD in the period from 2002 to 2009. METHODS: The bibliographic search was conducted in the following scientific databases: PUBMED, SciELO, LILACS and portal CAPES, by using keywords such as autism and pervasive developmental disorders. RESULTS: A total of 93 papers were identified mainly produced by authors from tSoutheast Brazil and from public universities. Approximately one third of the papers was published in journals with a level of impact factor that ranged from 0.441 to 3.211; most of them were based on small sample sizes. Identified were 140 dissertations/theses; 82.1 percent were masters theses. The major research topic was related to intervention programs addressing ASD. CONCLUSION: This review shows that Brazilian researchers are interested in the ASD theme, however, a large part of this scientific production is concentrated in dissertation/masters theses and the minority of papers was published in journals with a high impact factor. Results of this systematic review suggest the need for studies with larger sample sizes which would produce greater impact and visibility in the Brazilian scientific production in the field of the ASD.
Subject(s)
Child , Humans , Biomedical Research/statistics & numerical data , Child Development Disorders, Pervasive , Academic Dissertations as Topic , Periodicals as Topic/statistics & numerical data , Publishing/statistics & numerical data , Brazil , Journal Impact FactorABSTRACT
Individuals with Rett syndrome (RS) present severe motor, language and cognitive deficits, as well as spontaneous hand movement loss. On the other hand, there are strong evidence that these individuals use the eyes with intentional purpose. Ten girls aged 4y8m to 12y10m with RS were assessed with a computer system for visual tracking regarding their ability of indicating with eyes the recognition of concepts of color (red, yellow and blue), shape (circle, square and triangle), size (big and small) and spatial position (over and under) to which they were first exposed to. Results from comparing the time of eyes fixation on required and not required concepts did not differ significantly. Children did not show with eyes the recognition of the required concepts when assessed with eye tracking system.
Subject(s)
Color Perception Tests/methods , Pattern Recognition, Visual , Rett Syndrome/diagnosis , User-Computer Interface , Child , Child, Preschool , Female , Fixation, Ocular , Humans , Methyl-CpG-Binding Protein 2/genetics , Photic Stimulation , Reaction Time , Rett Syndrome/genetics , Statistics, NonparametricABSTRACT
Individuals with Rett syndrome (RS) present severe motor, language and cognitive deficits, as well as spontaneous hand movement loss. On the other hand, there are strong evidence that these individuals use the eyes with intentional purpose. Ten girls aged 4y8m to 12y10m with RS were assessed with a computer system for visual tracking regarding their ability of indicating with eyes the recognition of concepts of color (red, yellow and blue), shape (circle, square and triangle), size (big and small) and spatial position (over and under) to which they were first exposed to. Results from comparing the time of eyes fixation on required and not required concepts did not differ significantly. Children did not show with eyes the recognition of the required concepts when assessed with eye tracking system.
Pessoas com síndrome de Rett (SR) apresentam severos prejuízos psicomotores, verbais, cognitivos e perda das habilidades manuais proposicionais que impedem o conhecimento de suas reais aquisições intelectuais. Entretanto, estudos relatam que essas pessoas utilizam o olhar com finalidade intencional. O objetivo deste estudo foi avaliar se crianças com SR, após terem sido expostas aos conceitos de cor (vermelho, amarelo e azul), forma (círculo, quadrado e triângulo), tamanho (grande e pequeno) e posição espacial (em cima e em baixo), manifestam o reconhecimento desses conceitos com o olhar, avaliado com equipamento computadorizado de rastreamento ocular. Foram avaliadas dez crianças com diagnóstico de SR, com idades entre 4 anos e 8 meses e 12 anos e 10 meses. Os resultados não indicaram diferenças significativas no tempo de fixação do olhar das crianças quando comparados os conceitos solicitados e os não solicitados. Concluiu-se que, com o método utilizado, as crianças não reconheceram os conceitos avaliados.
Subject(s)
Child , Child, Preschool , Female , Humans , Color Perception Tests/methods , Pattern Recognition, Visual , Rett Syndrome/diagnosis , User-Computer Interface , Fixation, Ocular , /genetics , Photic Stimulation , Reaction Time , Rett Syndrome/genetics , Statistics, NonparametricABSTRACT
Esta pesquisa foi realizada com o objetivo de verificar a taxa de concordância de três instrumentos de diagnóstico para o Transtorno de Déficit de Atenção. Professores de uma escola municipal da região central de São Paulo aplicaram a Versão para Professores da Escala de Transtorno de Déficit de Atenção/Hiperatividade a todos os 300 alunos do sexo masculino regularmente matriculados nas 1ª, 2ª e 3ª séries, e 25 alunos preencheram critérios para o diagnóstico de TDAH. Os pais desses 25 alunos preencheram questionário elaborado para a pesquisa com base nos critérios diagnósticos do DSM-IV-TR para TDAH. Todos esses 25 alunos foram submetidos ao Teste de Performance Continuada de Conners II, para identificação de desordens potenciais de atenção, e ao Teste das Matrizes Progressivas de Raven, para conhecimento da capacidade intelectual. A taxa de concordância entre os três primeiros instrumentos foi de apenas 20%, e a aplicação do Teste de Raven revelou duas crianças com deficiência mental. Os resultados apontam o grau de subjetividade com que se estabelece o diagnóstico do TDAH e a necessidade de atenção criteriosa e cuidadosa para esse diagnóstico, antes que se submeta o paciente a tratamento medicamentoso.
Agreement rate of three different instruments for identifying Attention Deficit Disorder with Hyperactivity (AAD/H) was verified. Teachers of a public school located in São Paulo city applied the Attention Deficit Disorder with Hyperactivity Scale for Teachers to all the 300 male students regularly registered in the three first grades of the basic school, and 25 of them fulfilled the criteria for ADD/H. These childrens parents answered a questionnaire developed for this study based on the DSM-IV-TR criteria for ADD/H. All the 25 students were submitted to Conners II Continued Performance Test, for identification of potential attention disturbances, and to the Raven Test, for the knowledge of their intellectual abilities. Agreement rate for the three instruments was only 20%, and Raven Test application revealed two students with mental retardation. Results pointed out how subjective can be the diagnoses of ADD/H as well as the need of a very careful attention for such diagnoses before the establishment of a medicamentous therapy for the patient.
