Autism spectrum disorder in a girl with a de novo x;19 balanced translocation

Balanced X-autosome translocations are rare, and female carriers are a clinically heterogeneous group of patients, with phenotypically normal women, history of recurrent miscarriage, gonadal dysfunction, X-linked disorders or congenital abnormalities, and/or developmental delay. We investigated a patient with a de novo X;19 translocation. The six-year-old girl has been evaluated due to hyperactivity, social interaction impairment, stereotypic and repetitive use of language with echolalia, failure to follow parents/caretakers orders, inconsolable outbursts, and persistent preoccupation with parts of objects. The girl has normal cognitive function. Her measurements are within normal range, and no other abnormalities were found during physical, neurological, or dysmorphological examinations. Conventional cytogenetic analysis showed a de novo balanced translocation, with the karyotype 46,X,t(X;19)(p21.2;q13.4). Replication banding showed a clear preference for inactivation of the normal X chromosome. The translocation was confirmed by FISH and Spectral Karyotyping (SKY). Although abnormal phenotypes associated with de novo balanced chromosomal rearrangements may be the result of disruption of a gene at one of the breakpoints, submicroscopic deletion or duplication, or a position effect, X; autosomal translocations are associated with additional unique risk factors including X-linked disorders, functional autosomal monosomy, or functional X chromosome disomy resulting from the complex X-inactivation process.

The biopsychosocial processes in autism spectrum disorder

Background: Autism is a disorder characterized by pervasive social and communicative impairments, repetitive and stereotyped behaviors and restricted interests. Its causes and effects have been researched from various neurocognitive theoretical perspectives and with the aid of neuroimaging technology. We aimed to describe biopsychosocial processes characteristic of the Autism Spectrum Disorders. Method: Literature review using Medline and Scopus databases published between 2001 and 2011, with the keywords "autism", "theory of mind", "executive functions", "central coherence" and “fMRI”. Results: The studies found were plotted and organized into tables and an explanatory diagram of the main findings was produced. Conclusions: The most popular neurocognitive theories are still unable to fully explain the characteristics of the complications that autistic spectrum disorder causes to the quality of life of individuals living with autism. The association of clinical research and neuroimaging may contribute to a better understanding of the functioning of the brain affected by the disorder.

Influence of sleep disorders on the behavior of individuals with autism spectrum disorder

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

Subtelomeric region of chromosome 2 in patients with autism spectrum disorders

Autism spectrum disorders are severe psychiatric diseases commonly identified in the population. They are diagnosed during childhood and the etiology has been much debated due to their variations and complexity. Onset is early and characterized as communication and social interaction disorders and as repetitive and stereotyped behavior. Austistic disorders may occur together with various genetic and chromosomal diseases. Several chromosomal regions and genes are implicated in the predisposition for these diseases, in particular those with products expressed in the central nervous system. There are reports of autistic and mentally handicapped patients with submicroscopic subtelomeric alterations at the distal end of the long arm of chromosome 2. Additionally, there is evidence that alterations at 2q37 cause brain malformations that result in the autistic phenotype. These alterations are very small and not identified by routine cytogenetics to which patients are normally submitted, which may result in an underestimation of the diagnosis. This study aimed at evaluating the 2q37 region in patients with autistic disorders. Twenty patients were studied utilizing the fluorescence in situ hybridization technique with a specific probe for 2q37. All of them were also studied by the GTC banding technique to identify possible chromosomal diseases. No alterations were observed in the 2q37 region of the individuals studied, and no patient presented chromosomal diseases. This result may be due to the small sample size analyzed. The introduction of routine analysis of the 2q37 region for patients with autistic disorders depends on further studies. ©FUNPEC-RP.

Sociocognitive performance in autism spectrum disorders and interference of the therapeutic environment

To analyze the sociocognitive performance of children and adolescents with autism spectrum disorders in two environments of language therapy, which differ as to the physical structure. Ten children and adolescents with ages between 4 and 13 years, of both genders, diagnosed with autism spectrum disorders took part in the study. For data collection, eight filming sessions were performed during individual language therapy lasting 30 minutes, being four in a room with conventional environmental organization (common room) and four in a room with specific ambiance [children's interaction core (CIC) room], interspersed during a month. For the analysis of filmed situations, the Sociocognitive Performance Protocol was used and obtained data were subjected to statistical analysis. No statistical significance was found in sociocognitive performance of 10 subjects in the common and CIC rooms, although specific differences were observed in some cases. The creation of preestablished physical environments or specific materials is not and should not be considered essential for language therapy. It is noteworthy, however, that the absence of a large volume of statistically significant data does not indicate that the results are not expressive, reiterating the need for further research in the area.

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

Pós-graduação em Fonoaudiologia - FFC

Intravenous procedural sedation: an alternative in the treatment of patients with intellectual disability

Conscious sedation has become established as an important alternative to general anesthesia (GA) in dental treatment of patients with intellectual disability (ID). Aim: to investigate dental patients undergoing sedation using a mean dose of 0.6 mg/kg intravenous midazolam and the adverse events of sedation in patients with ID. Methods: This study analyzed the records of 163 dental patients with ID aged between 2 and 76 years who had undergone conscious intravenous sedation (CIV) using a mean dose of 0.61 mg/kg of midazolam at Araçatuba Dental School, São Paulo State University, Brazil. The efficacy and complications induced by CIV were evaluated in each subject. Results: CIV was effective for dental treatment in 80% of the cases. A total of 626 dental procedures were performed. The mean treatment time was 33.9 minutes. There was statistically significant difference (p<0.05) between absence and presence of adverse reactions. Adverse reactions were observed in 21.47% of the cases. Conclusions: The results of this study showed that CIV is a useful method for dental treatment of patients with ID and these patients can need higher doses of sedative to reach an adequate level of sedation.

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.

Ensino de operantes verbais e requisitos para ensino por tentativas discretas em crianças com transtorno do espectro autista (TEA)

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

Práticas pedagógicas inclusivas na educação infantil: atividades lúdicas envolvendo crianças com Transtorno do Espectro Autista (TEA)

Pós-graduação em Docência para a Educação Básica - FC

Processo educacional de crianças com Transtorno do Espectro Autista na Educação Infantil: interconexões entre contextos

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

A presença de alunos autistas em salas regulares, a aprendizagem de ciências e a alfabetização científica: percepções de professores a partir de uma pesquisa fenomenológica

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Terapia de linguagem no espectro autístico: a interferência do ambiente terapêutico

OBJETIVO: Analisar o perfil funcional da comunicação de crianças e adolescentes com distúrbios do espectro autístico em dois ambientes de terapia de linguagem, que se diferenciam quanto ao aspecto físico. MÉTODOS: Participaram dez sujeitos com distúrbios do espectro autístico, seis do gênero masculino e quatro do gênero feminino, com idades entre 4 e 13 anos. Na coleta de dados, foram realizadas filmagens de oito sessões de terapia de linguagem individual com duração de 30 minutos, sendo quatro sessões em uma sala comum e quatro em uma sala com ambientação específica (sala NIC), intercaladamente, durante um mês. Para a análise dos dados foi empregado o Protocolo de Pragmática, e os resultados receberam tratamento estatístico. RESULTADOS: Verificou-se que não houve diferença significativa entre o perfil pragmático apresentado pelos dez sujeitos na sala comum e na sala NIC. CONCLUSÃO: O contexto físico aqui estudado não influenciou significativamente no perfil funcional da comunicação de indivíduos do espectro autístico, ainda que se tenha verificado tendências individuais apresentando melhor desempenho em uma sala ou em outra.

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.

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome

Smith-Magenis syndrome (SMS) is a complex disorder whose clinical features include mild to severe intellectual disability with speech delay, growth failure, brachycephaly, flat midface, short broad hands, and behavioral problems. SMS is typically caused by a large deletion on 17p11.2 that encompasses multiple genes including the retinoic acid induced 1, RAI1, gene or a mutation in the RAI1 gene. Here we have evaluated 30 patients with suspected SMS and identified SMS-associated classical 17p11.2 deletions in six patients, an atypical deletion of ∼139 kb that partially deletes the RAI1 gene in one patient, and RAI1 gene nonsynonymous alterations of unknown significance in two unrelated patients. The RAI1 mutant proteins showed no significant alterations in molecular weight, subcellular localization and transcriptional activity. Clinical features of patients with or without 17p11.2 deletions and mutations involving the RAI1 gene were compared to identify phenotypes that may be useful in diagnosing patients with SMS. © 2012 Macmillan Publishers Limited All rights reserved.