Renata de Lima Velloso

Literatura científica brasileira sobre transtornos do espectro autista

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% 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.

Concepts of color, shape, size and position in ten children with Rett syndrome

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.

Fenótipo comportamental e cognitivo de crianças e adolescentes com Síndrome de Williams-Beuren

TEMA: a Sindrome de Williams-Beuren (SWB) e uma aneusomia segmentar devido a delecao de multiplos genes no braco longo do cromossomo 7 (regiao 7q11-23) associada a alteracoes comportamentais e cognitivas. Para que a inclusao escolar dessas criancas seja eficaz sao necessarias abordagens multidisciplinares que orientem professores e pais. OBJETIVO: descrever o perfil comportamental, cognitivo e de linguagem e identificar comportamentos autisticos em um grupo de criancas e adolescentes com SWB. METODO: 10 criancas e adolescentes com diagnostico clinico e/ou citogenetico-molecular de SWB na faixa de 5 a 16 anos, e 10 criancas e adolescentes com desenvolvimento tipico, pareados por sexo e idade. Instrumentos utilizados: Teste de Inteligencia Nao Verbal (Leiter-R); Inventario de Comportamentos para Criancas 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 alteracoes comportamentais do tipo desatencao e problemas sociais em comparacao com o grupo controle (GC). Na escala Leiter-R os escores de inteligencia dos participantes com SWB foram abaixo da media para a idade (67,8 pontos) em comparacao ao GC (101,2). O ASQ identificou um participante com comportamentos autisticos. O grupo com a sindrome apresentou defasagem na estruturacao no nivel morfossintatico e elevado numero de respostas ecolalicas nas provas do TIPITI, quando comparados ao GC. CONCLUSAO: em funcao dos problemas comportamentais e cognitivos encontrados nos participantes com SWB confirma-se a necessidade de um acompanhamento multidisciplinar focado na estimulacao cognitiva e controle comportamental, devido a interferencia destas caracteristicas na escolarizacao.

The eye-tracking of social stimuli in patients with Rett syndrome and autism spectrum disorders: a pilot study

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.

Evaluation of the theory of mind in autism spectrum disorders with the Strange Stories test

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.

Rastreamento de sinais e sintomas de transtornos do espectro do autismo em 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% 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%), close to the findings that suggest a 10% 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.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% 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%), close to the findings that suggest a 10% 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.