Temporal lobe epilepsy and social behavior: An animal model

Social behavior depends on the integrity of social brain circuitry. The temporal lobe is an important part of the social brain, and manifests morphological and functional alterations in autism spectrum disorders (ASD). Rats with temporal lobe epilepsy (TLE), induced with pilocarpine, were subjected to a social discrimination test that has been used to investigate potential animal models of ASD, and the results were compared with those for the control group. Rats with TLE exhibited fewer social behaviors than controls. No differences were observed in nonsocial behavior between groups. The results suggest an important role for the temporal lobe in regulating social behaviors. This animal model might be used to explore some questions about ASD pathophysiology. (c) 2008 Elsevier Inc. All rights reserved.

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). Performing CMA and G-banded karyotyping on every patient substantially increases the total cost of genetic testing. The International Standard Cytogenomic Array (ISCA) Consortium held two international workshops and conducted a literature review of 33 studies, including 21,698 patients tested by CMA. We provide an evidence-based summary of clinical cytogenetic testing comparing CMA to G-banded karyotyping with respect to technical advantages and limitations, diagnostic yield for various types of chromosomal aberrations, and issues that affect test interpretation. CMA offers a much higher diagnostic yield (15%-20%) for genetic testing of individuals with unexplained DD/ID, ASD, or MCA than a G-banded karyotype (similar to 3%, excluding Down syndrome and other recognizable chromosomal syndromes), primarily because of its higher sensitivity for submicroscopic deletions and duplications. Truly balanced rearrangements and low-level mosaicism are generally not detectable by arrays, but these are relatively infrequent causes of abnormal phenotypes in this population (<1%). Available evidence strongly supports the use of CMA in place of G-banded karyotyping as the first-tier cytogenetic diagnostic test for patients with DD/ID, ASD, or MCA. G-banded karyotype analysis should be reserved for patients with obvious chromosomal syndromes (e.g., Down syndrome), a family history of chromosomal rearrangement, or a history of multiple miscarriages.

Efeitos de um programa de intervenção precoce baseado no modelo mais que palavras - HANEN, para crianças menores de três anos com risco de autismo

In the last decades, studies on early intervention involving children with autism have suggested that there is no single intervention model capable of addressing the needs of all individuals in the spectrum. The role of parents as active intervention agents is, however, highly recommended. The More Than Words-HANEN Program has been specifically created for parents of children, under five years of age, who are in the autism spectrum. This intervention aims at improving the social competence and language comprehension of the child, as well as their parents empowerment. Until now only three studies have been performed in order to evaluate the effectiveness of the HMTW program. The purpose of this investigation is to evaluate the effects of an early intervention program inspired on HMTW model on the level of caregiver responsiveness and child communication skills. The present study adds to the existing research literature on family-centered early intervention that uses a developmental paradigm. A two year boy in risk for autism, his mother and nanny took part in this investigation, which was carried out in the child´s home in Mossoró, Rio Grande do Norte. The caretakers were given one fifty-two hours of training, divided into thirteen weekly meetings. A quasi-experimental A-B-C design (baselineintervention- follow-up) showed improvement in the caretakers level of responsiveness and meaningful social-communicative gains in the child´s response

Análise dos efeitos de um plano educacional individualizado no desenvolvimento acadêmico e funcional de um aluno com transtorno do espectro do autismo

Given the paradigm of inclusive education, the presence of students with autism spectrum disorder in regular schools has become more significant in recent years. Studies have revealed, however, deficits in academic participation of these students in these settings. Among the factors contributing to this phenomenon include poor teacher training and the lack of strategies to promote curriculum access. The aim of this study was to develop an instrument that would promote academic inclusion of a student with autism through procedures that could simultaneously empower the teacher. In this perspective, the study aimed to analyze the effects of an Individualized Educational Plan (IEP), developed collaboratively with teachers, on the academic and functional development of a student with autism in an early childhood education setting. Data were collected in a private school located in the city of Natal in Rio Grande do Norte, in the course of the academic year 2012. In addition to the student with autism, one teacher, a specialized educator, and four teacher aides participated in the study. The research used a single subject quasi-experimental design (AB) as well as qualitative methods of data analysis. The study was conducted in three phases: characterization, baseline and intervention. The first comprised interviews with the child´s parents and teachers, as well as the identification of two routines focus of intervention. In the second phase, the amount of time the student spent engaged in the selected routines during baseline was analyzed. In the third phase, the researcher prepared, collaboratively with the teachers, an individualized educational plan (IEP) for the student. Finally, the IEP was implemented by the teachers. The results indicated qualitative and quantitative changes in student´s participation in academic and functional tasks after the intervention program

Aplicabilidade do Rorshach na avaliação psicológica do autismo

This study investigates the applicability of the Rorschach Method for evaluating the personality of people with Autism Spectrum Disorder (ASD).The relevance of this study is justified by the limited number of investigations published in the research literature concerning the use of psychological tests used for evaluating the personality of individuals with ASD. The Rorschach Method was chosen as an appropriate instrument considering it reveals the personality s basic structure, including characteristics of the affectivity, sensuality, inner life, mental resources, psychic energy and general characteristics and intellectual state of the individual. The general objective of this investigation consisted of verifying the applicability of the use the Rorschach Method in the evaluation of the characteristics of people's personality with autism spectrum disorder (ASD).The study also sought to identify perceptive factors of the personality structure of individuals with ASD, provide contributions of the understanding of this syndrome, seeking the establishment of possible therapeutic interventions starting from diagnostic by Rorschach Method. In addition, this investigation aims at verifying the adequacy of using the Rorschach Method as an instrument for evaluating the personality characteristics of individuals with ASD and its possible use in Brazil, starting from preliminary normative results. Participants consisted of 44 youngsters and adults, both genders with age range 14 - 39 years-old (average: 23.5 years-old) distributed in 2 groups. Group 1: composed with 22 youngsters and adults with clinical diagnosis of autism spectrum disorder (communication impairments, social interaction deficits, restricted and repetitive interests and activities); Group 2: composed with 22 youngsters and adults with typical behavior. The participants were paired to gender and age, individually. The Mann-Whitney and Wilcoxon tests were applied to evaluate statistical differences between the groups, considering demographic and social data. The results indicate the presence of restricted interest or difficulty in the expression of the social and affective interaction of people with ASD. However, the need of broader normative studies concerning the use of personality evaluation instruments for people with ASD is warranted. These investigations could help understand the psychic dynamism of this population, offering subsidies that can be added to the current techniques of diagnosis. The Rorschach Method is susceptible to application but it is necessary to respect the individual limitations of these people and to establish more criterions about the spectrum

Identification of a Microdeletion at the 7q33-q35 Disrupting the CNTNAP2 Gene in a Brazilian Stuttering Case

Speech and language disorders are some of the most common referral reasons to child development centers accounting for approximately 40% of cases. Stuttering is a disorder in which involuntary repetition, prolongation, or cessation of the sound precludes the flow of speech. About 5% of individuals in the general population have a stuttering problem, and about 80% of the affected children recover naturally. The causal factors of stuttering remain uncertain in most cases; studies suggest that genetic factors are responsible for 70% of the variance in liability for stuttering, whereas the remaining 30% is due to environmental effects supporting a complex cause of the disorder. The use of high-resolution genome wide array comparative genomic hybridization has proven to be a powerful strategy to narrow down candidate regions for complex disorders. We report on a case with a complex set of speech and language difficulties including stuttering who presented with a 10Mb deletion of chromosome region 7q33-35 causing the deletion of several genes and the disruption of CNTNAP2 by deleting the first three exons of the gene. CNTNAP2 is known to be involved in the cause of language and speech disorders and autism spectrum disorder and is in the same pathway as FOXP2, another important language gene, which makes it a candidate gene for causal studies speech and language disorders such as stuttering. (C) 2010 Wiley-Liss, Inc.

Molecular and Cytogenetic Analyses on Brazilian Youths with Pervasive Developmental Disorders

The Pervasive Developmental Disorders (PDDs) constitute a group of behavioral and neurobiological impairment conditions whose main features are delayed communicative and cognitive development. Genetic factors are reportedly associated with PDDs and particular genetic abnormalities are frequently found in specific diagnostic subgroups such as the autism spectrum disorders. This study evaluated cytogenetic and molecular parameters in 30 youths with autism or other PDDs. The fragile X syndrome was the most common genetic abnormality detected, presented by 1 patient with autism and 1 patient with PPD not-otherwise specified (PPD-NOS). One girl with PDD-NOS was found to have tetrasomy for the 15q11-q13 region, and one patient with autism exhibited in 2/100 metaphases an inv(7)(p15q36), thus suggesting a mosaicism 46,XX/46,XX,inv(7)(p15q36) or representing a coincidental finding. The high frequency of chromosomopathies support the hypothesis that PDDs may develop as a consequence to chromosomal abnormalities and justify the cytogenetic and molecular assessment in all patients with PDDs for establishment of diagnosis.

Correlação entre 6-sulfatoximelatonina, distúrbios do sono e citocinas inflamatórias em Transtornos do Espectro do Autismo (TEA)

Pós-graduação em Fonoaudiologia - FFC

Análise citogenética em alta resolução de 2q37 e 22q13 e molecular do gene SHANK3 em doenças do espectro autístico

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Relações familiares e habilidades sociais de irmãos de indivíduos com transtorno do espectro autístico: estudo comparativo

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Estudo citogenético, regiões 2q37e 22q13.3 e condições médicas em doenças do espectro autístico

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Comunicação e transtornos do espectro do autismo: análise do conhecimento de professores em fases pré e pós-intervenção

Objetivo analisar o conhecimento de professores de ensino fundamental sobre a comunicação de pessoas com transtornos do espectro do autismo, em dois momentos distintos, pré e pós-intervenção. Métodos trata-se de um estudo descritivo comparativo, em que participaram 160 professores de escolas municipais de ensino fundamental, de ambos os gêneros, com idades entre 23 e 65 anos. Para verificar o conhecimento dos professores sobre a comunicação nos transtornos do espectro do autismo, foi elaborado e aplicado um questionário especificamente para este estudo. O instrumento, oferecido aos professores, foi aplicado em dois momentos distintos, pré e pós-intervenção. O procedimento de intervenção constou de dois encontros, de quatro horas cada, conduzidos por fonoaudiólogos e entrega de manual de orientação sobre os transtornos do espectro do autismo, com ênfase em aspectos da comunicação e linguagem. Foram analisadas e comparadas as respostas pré e pós-intervenção. Os resultados foram tratados estatisticamente (p<0,05 e em alguns casos p<0,01; foi utilizado o teste de Qui-quadrado para Proporções). Resultados foi possível observar que os professores apresentavam conhecimento restrito sobre a comunicação nos transtornos do espectro do autismo e sobre esses quadros clínicos de modo geral. Além disso, verificou-se aumento significante de respostas corretas por parte dos professores após a intervenção. Conclusão constatou-se um restrito conhecimento dos professores sobre a comunicação nos transtornos do espectro do autismo e efeitos positivos do procedimento de intervenção, por meio da análise comparativa entre as fases pré e pós-intervenção, que evidenciou aumento significante de respostas adequadas sobre os transtornos do espectro do autismo.

Psicopatologia e educação infantil: elaboração de manual de orientação sobre os transtornos do espectro do autismo

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Polimorfismos dos genes ADA e CNTNAP2 em indivíduos com Transtornos do Espectro do Autismo

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)