A Rare Case of Trisomy 15pter-q21.2 Due to a De Novo Marker Chromosome

Supernumerary marker chromosomes (sSMC) may or may not be associated with an abnormal phenotype, depending on the presence of euchromatin, on their chromosomal origin and whether they are inherited. Over 80% of sSMCs are derived from acrocentric chromosomes and half of them include the short arm of chromosome 15. Generally, they appear as bisatellited isodicentric marker chromosomes, most of them are symmetric. These chromosomes are normally originated de novo and are associated with mild to severe intellectual disability but not with physical abnormalities. We report on a patient with an SMC studied using classical and molecular cytogenetic procedures (G and C banding, NOR staining, painting and centromeric fluorescent in situ hybridization (FISH), BAC-FISH, and SKY). The MLPA technique and DNA polymorphic markers were used in order to identify its parental origin. The marker chromosome, monosatellited and monocentric, was found to be derived from a maternal chromosome 15 and was defined as 15pter-q21.2. This is the report of the largest de novo monosatellited 15q marker chromosome ever published presenting detailed cytogenetic and clinical data. It was associated with a phenotype including cardiac defect, absence of septum pellucidum, and dysplasia of the corpus callosum. (C) 2010 Wiley-Liss, Inc.

De sociala konstruktionerna av hög ålder och funktionsförmåga : exemplet intellektuellt funktionshinder

The social constructions of old age and ability – the example of intellectual disability The aim of this article is to analyse and discuss constructions of old age as they are reflected in disability research with the focus on ageing and what it means to be elderly. The results of this study show three tendencies. First, the consequences of the impairment tend to be at forefront in studies of experiences of ageing among persons with intellectual disabilities. This obscures the fact that people with intellectual disabilities partake in a common idealisation of youthfulness that often contains ambivalence towards old age. Second, the concept of old age in disability research embraces significantly wider chronological age groups than those considered in ageing studies. Third, both disability and ageing research tend to use a late modern perspective of individualization as a way to illustrate new options and strategies, including resistance against stigmatisation. This article illustrates that social constructions of disability and old age are tightly interwoven, and constitute negations of normatively defined ideals of normality in a society where ability are highly regarded.

O currículo escolar: uma análise na perspectiva da inclusão de alunos com deficiência intelectual

A mid the many transformations and advances that the contemporary society is going through, the right to education is a topic that does not end and becomes increasingly present, given the urgency of including students with disabilities in education. Given this new reality, schools are challenged to receive them with quality, and implement actions that promote favorable conditions for their development at school. Accordingly, it is fundamental the organizational restructuring of education to meet the specific needs of students. Thus, it is imperative that educational institutions defining the type of person who intend to form and the society proposing to build. These are aspects that precede any question, since the knowledge covered in the curriculum will contribute directly to the creation of human beings are involved there. Based on this theme, this assignment reports aspects of a survey of a local public school, located in Natal/RN, which deals with the analysis of the curriculum and its implementation in teaching practice in the classroom, before the inclusion of students with disabilities intellectual. Thus, to undertake a study of case with five professionals at school, involving documentary analysis and observation of the curriculum of the pedagogical practice of teachers in the classroom, as well as conducting an interview with all stakeholders. To this end, the data analyzed shows that, although the right of citizens with disabilities is guaranteed by constitutional law, the school, locus of this study, have not realized the extent of conquest. Does not recognize the fact of being in school and learn together with others is also a right of persons with disabilities. Thus, while your resume is to present a progressive vision, believed to be open, concerned with the selection and organization of content, with flexibility in defining the goals, with the search for diversification of the procedures adopted, as well as the planning activities teaching and learning based on the level of student learning, this is not effective in teaching practice, either through ignorance of the guidelines defined either by lack of knowledge about the proposal and an inclusive curriculum can provide answers to all educational students, including those with intellectual disability

A memória de curto prazo e a síndrome de down: a relação entre contextos de desenvolvimento

Down syndrome (DS) is one of the most frequent causes of intellectual disability, affecting one in every 600 to 1000 live births. Studies have demonstrated that people with DS have a lower capacity for short-term memory (STM) and working memory (WM), which affects their capability to learn new words and to follow spoken instructions, specially when they involve multiple information or consecutive orders/orientations. It seems that the basis of the learning process, as it happens with language and mathematics comprehension and reasoning, relies in the STM and WM systems. Individuals with DS are increasingly included in mainstream education, and yet, very few researches have been conducted to investigate the influence of memory development and the type of enrollment (regular school and special school). This study investigated the relationship between the type of school enrollment with the performance on STM tests and also, the relationship of this performance with early stimulation (ES). The tests used in the first research were the digit span, free recall, word recognition and subtests of the Wechsler Intelligence Scale for Children Third Edition (WISC-III). Individuals enrolled in the regular schools group had higher scores on the digit span test and the subtests of the WISC-III. In the free recall and recognition tests, no differences were found. This study indicates that the type of enrollment might influence the memory development of individuals with DS and clearly points the need for future investigations. In the second research, the tests used were the digit span, free word recall and subtests of the WISC-III. The test results showed better performance by adults that received ES before six months of age. The studies showed improvement in STM both in people who attended or were attending regular school, as well as those who benefited from ES before six months of age. However, some issues still need to be better understood. What is the relation between this stimulation with the individual s education? Since ES may reflect a greater family involvement with the individual, what is the role of emotional components derived from this involvement in the cognitive improvement? These and other questions are part of the continuity of this study

Speech therapy intervention before dental management in patients with special needs: A case report

Fragile X syndrome is a cytogenetic abnormality related to chromosomal X. This syndrome is frequently associated to intellectual disability, psychological problems, as well as heart, skeletal and join alterations. Intraoral anomalies include malloclusion, ogival palate, cleft palate, presence of mesiodens, dental hypomineralization and abrasion of the occlusal surfaces and incisai edges. The study of characteristics of this syndrome is important for the dentist in order to guide dental treatment and prevention. The aim of this study is to present a myofunctional therapy protocol, evaluated by surface electromyography. A case of a 21 year-old young man who attended the Training Program in Dentistry for Persons with Disabilities, School of Dentistry of São José dos Campos/UNESP is reported. He underwent myofunctional therapy before dental treatment and the masticatory muscles were evaluated by surface electromyography. The exercises of myofunctional therapy consisted of active and passive simple movements of opening and closing the mouth, tongue protrusion and retrusion, digital manipulation and also by using an electric massager on intraoral and perioral region of the masseter, buccinator and orbicularis oris. Action potentials of the masticatory muscles decreased in almost all the muscles and values for the bite force and mandibular opening capacity increased. This study showed that brief and immediate myofunctional therapy optimized clinical practice with positive repercussion on dental care.

Softwares educativos para alunos com deficiência intelectual: Estratégias utilizadas

The computer is present in everyday school life and using it with educational software must be mediated and planned in order for this resource to contribute to student learning, including those with intellectual disabilities (ID). Therefore, the aim was to propose specific computer activities for students with ID using educational software, and to quantify and analyze the technical and pedagogical strategies used. The participants were six students with ID enrolled in two public schools. To collect information we used observation protocols and a field journal. Data were analyzed quantitatively and qualitatively, based on the concepts of mediation and the zone of proximal development of cultural-historical theory. The results indicated that when the content developed in the computer classes were compatible with the proposed activities in the classroom, students with ID had opportunities to experience different activities that enable them to be successful. We noted that what enabled them to understand and correctly perform the proposed activities were the teaching strategies. Thus, we consider that technical knowledge about educational software and pedagogical knowledge about content that is being worked on, are insufficient to ensure that the proposed activity will contribute to the development of students with ID.

Escolarização de alunos com deficiência intelectual em classes comuns e em salas de recursos multifuncionais

Pós-graduação em Educação Escolar - FCLAR

A problematização das tarefas de casa no contexto da educação inclusiva: um estudo de caso

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Inclusão de alunos com deficiência intelectual: considerações sobre avaliação da aprendizagem escolar

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

O uso de objetos educacionais no ensino de Física e suas relações com o processo de inclusão

Pós-graduação em Educação - FCT

Nas tramas da educação inclusiva: considerações sobre as políticas públicas educacionais para a inclusão

Pós-graduação em Serviço Social - FCHS

Análise molecular de pacientes com síndromes de Smith-Magenis

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Correlações entre sono-vigília, memória e melatonina em Síndrome de Williams-Beuren

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Linguagem narrativa e fluência na síndrome de down: uma revisão

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