ABSTRACTobjectIve. 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.

Although Rett syndrome (RS) has been considered a manifestation of autism spectrum disorders (ASD) as well as a genetic model of ASD 1 , many aspects peculiar to each of these conditions make them very different and deserve to be even more clarified, so that diagnosis and therapeutic and educational interventions can be as effective as possible for one and other condition.RS is characterized by severe neuromotor, cognitive and communicative impairments. The severity of neuromotor impairments determines the level of global apraxia, resulting in loss or non-development of gait and purposeful use of hands, and in serious respiratory, gastrointestinal and orthopedic disturbances. Most of them do not develop any kind of speech. About 60%-70% develop with epileptic seizures. The empirical observation of RS patients points to a relative preservation of social domain, as they have a very intense look and somehow respond to social stimuli. The etiology of RS has strongly been associated with mutations in MECP2 gene 2,3,4 , and more recently with alterations in CDKL5 and FOGX1 in some cases 5,6 . Although it has been 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.

ResumoOs 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% 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%) e se aproximam dos achados que relatam 10% 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. Descritores: Irmãos, genética, transtornos do espectro do autismo. AbstractPervasive 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.

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.