792 resultados para Intellectual Disability (ID)
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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The aim of this study was to identify and analyze the conceptions of a group of teachers in cycle-1 elementary school on intellectual disability and assessment of school learning. It is a qualitative research that used a semi-structured interview script for its investigation. The teachers' reports showed some weakness and lack of preparation to deal with the inclusion of pupils with intellectual disabilities, and consequently difficult to assess their learning conditions. It was also found that the assessment used by them was characterized by sluggish and it was based mainly on the use of quantitative measuring instruments. Such instruments shortly guide the process of teaching and learning, consequently do not contribute to effective the inclusion of these school students.
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Pós-graduação em Ciências Biológicas (Genética) - IBB
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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
Opinião de professores sobre a sexualidade e a educação sexual de alunos com deficiência intelectual
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Using a questionnaire for quantitative and qualitative analysis, this descriptive study investigated the opinion of 451 teachers about sexuality and sexual education of students with intellectual disabilities. The majority (94.2%) perceives the sexuality of their students with intellectual disabilities, identifies their desire to date (38.3%), occurrence of questions (35.8%), sexual games and masturbation (19.6%) and the inappropriate behavior (6.3%); before that, they have positive feelings (37.5%) and negative (53.8%). Teachers believe they can contribute to the sexual education of their students (87.8%), however, they considered necessary the own training (39.9%) or the support of the school and the family (24.4%). It is important to invest in continuous training in sexual education for teachers working in inclusive schools.
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Abstract Intellectual disability is development atypical conditions that involve issues on a number of factors, such as intellectual skills, adaptive behavior, interactions and social roles. Furthermore, they report higher rates of physical inactivity than the general population, as well as participating less and less of regular physical activity, as they grow and age. The participation of people with intellectual disabilities in physical activity programs promotes, benefits of prevention of diseases, particularly cardiovascular, improvement of intellectual and cognitive ability in addition, regular physical activity promotes reduction of body fat. Therefore the aim of this study was to identify through a systematic review, physical activity programs for adults with intellectual disabilities and their extension of the benefits, limitations and recommendations, moreover, the following objectives: to analyze the types of physical activity programs and determine which is the most suitable for adults with intellectual disabilities, and to determine the benefits that physical exercises programs entail for adults with intellectual disabilities. The initial electronic search resulted in 2808 manuscripts. The predetermined exclusion criteria were: review process of the studies involved reading titles, abstracts and full texts checking. After all these phases, eight manuscripts met the inclusion criteria of the review. Articles presented participants aged between 18 and 67 years with mild to moderate intellectual disability. The intervention period was from 2.5 months studies ranged up to 9 months and the weekly frequency was from one to three times a week. The intervention types differ between the articles analyzed, including leisure and recreation activities, combined exercises of strength and muscular endurance, aerobic activities of hiking, with races and exercise bikes, widespread activities and sports specialization, athletics and...
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Pós-graduação em Educação Sexual - FCLAR
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Pós-graduação em Educação - FFC
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Thinking the school as an institution of equal access for every type of kid, youthful, and adult, to education, It was thought for this assignment to focus in inclusive education in defense of the right of all students to be together, learning and participating without any kind of discrimination. Knowing the large scope of the theme Inclusive Education , subdivided by MEC in four types of disabilities, as follows: auditory, visual, motor and intellectual. It was decided to approach here; intellectual disability, to be a disability that covers a vast number of limitations and that is largely present in the school environment. This work will sought to better understand this deficiency and the work with students carrying it into the classroom
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Restricted stimulus control refers to discrimination learning with atypical limitations in the range of controlling stimuli or stimulus features In the study reported here 4 normally capable individuals and 10 individuals with Intellectual disabilities (ID) performed two-sample delayed matching to sample Sample stimulus observing was recorded with an eye tracking apparatus High accuracy scores indicated stimulus control by both sample stimuli for the 4 nondisabled participants and 4 participants with ID and eye tracking data showed reliable observing of all stimuli Intermediate accuracy scores indicated restricted stimulus control for the remaining 6 participants Their eye tracking data showed that errors were related to failures to observe sample stimuli and relatively brief observing durations Five of these participants were then given interventions designed to improve observing behavior For 4 participants the interventions resulted initially in elimination of observing failures increased observing durations and Increased accuracy For 2 of these participants contingencies sufficient to maintain adequate observing were not always sufficient to maintain high accuracy subsequent procedure modifications restored It however For the 5th participant initial improvements in observing were not accompanied by improved accuracy in apparent Instance of observing without attending accuracy improved only after an additional intervention that imposed contingencies on observing behavior Thus interventions that control observing behavior seem necessary but may not always be sufficient for the remediation of restricted stimulus control
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Noonan syndrome (NS) and Noonan-related disorders [cardio-facio-cutaneous (CFC), Costello, Noonan syndrome with multiple lentigines (NS-ML), and neurofibromatosis-Noonan syndromes (NFNS)] are a group of developmental disorders caused by mutations in genes of the RAS/MAPK pathway. Mutations in the KRAS gene account for only a small proportion of affected Noonan and CFC syndrome patients that present an intermediate phenotype between these two syndromes, with more frequent and severe intellectual disability in NS and less ectodermal involvement in CFC syndrome, as well as atypical clinical findings such as craniosynostosis. Recently, the first familial case with a novel KRAS mutation was described. We report on a second vertical transmission (a mother and two siblings) with a novel mutation (p.M72L), in which the proband has trigonocephaly and the affected mother and sister, prominent ectodermal involvement. Metopic suture involvement has not been described before, expanding the main different cranial sutures which can be affected in NS and KRAS gene mutations. The gene alteration found in the studied family is in close proximity to the one reported in the other familial case (close to the switch II region of the G-domain), suggesting that this specific region of the gene could have less severe effects on intellectual ability than the other KRAS gene mutations found in NS patients and be less likely to hamper reproductive fitness. (c) 2012 Wiley Periodicals, Inc.
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Epileptic encephalopathies are a phenotypically and genetically heterogeneous group of severe epilepsies accompanied by intellectual disability and other neurodevelopmental features. Using next-generation sequencing, we identified four different de novo mutations in KCNA2, encoding the potassium channel KV1.2, in six isolated patients with epileptic encephalopathy (one mutation recurred three times independently). Four individuals presented with febrile and multiple afebrile, often focal seizure types, multifocal epileptiform discharges strongly activated by sleep, mild to moderate intellectual disability, delayed speech development and sometimes ataxia. Functional studies of the two mutations associated with this phenotype showed almost complete loss of function with a dominant-negative effect. Two further individuals presented with a different and more severe epileptic encephalopathy phenotype. They carried mutations inducing a drastic gain-of-function effect leading to permanently open channels. These results establish KCNA2 as a new gene involved in human neurodevelopmental disorders through two different mechanisms, predicting either hyperexcitability or electrical silencing of KV1.2-expressing neurons.
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Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities, and subdivided in TRPS I, caused by mutations in TRPS1, and TRPS II, caused by a contiguous gene deletion affecting (amongst others) TRPS1 and EXT1. We performed a collaborative international study to delineate phenotype, natural history, variability, and genotype-phenotype correlations in more detail. We gathered information on 103 cytogenetically or molecularly confirmed affected individuals. TRPS I was present in 85 individuals (22 missense mutations, 62 other mutations), TRPS II in 14, and in 5 it remained uncertain whether TRPS1 was partially or completely deleted. Main features defining the facial phenotype include fine and sparse hair, thick and broad eyebrows, especially the medial portion, a broad nasal ridge and tip, underdeveloped nasal alae, and a broad columella. The facial manifestations in patients with TRPS I and TRPS II do not show a significant difference. In the limbs the main findings are short hands and feet, hypermobility, and a tendency for isolated metacarpals and metatarsals to be shortened. Nails of fingers and toes are typically thin and dystrophic. The radiological hallmark are the cone-shaped epiphyses and in TRPS II multiple exostoses. Osteopenia is common in both, as is reduced linear growth, both prenatally and postnatally. Variability for all findings, also within a single family, can be marked. Morbidity mostly concerns joint problems, manifesting in increased or decreased mobility, pain and in a minority an increased fracture rate. The hips can be markedly affected at a (very) young age. Intellectual disability is uncommon in TRPS I and, if present, usually mild. In TRPS II intellectual disability is present in most but not all, and again typically mild to moderate in severity. Missense mutations are located exclusively in exon 6 and 7 of TRPS1. Other mutations are located anywhere in exons 4-7. Whole gene deletions are common but have variable breakpoints. Most of the phenotype in patients with TRPS II is explained by the deletion of TRPS1 and EXT1, but haploinsufficiency of RAD21 is also likely to contribute. Genotype-phenotype studies showed that mutations located in exon 6 may have somewhat more pronounced facial characteristics and more marked shortening of hands and feet compared to mutations located elsewhere in TRPS1, but numbers are too small to allow firm conclusions.
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En este artículo se trata de hacer una revisión sobre la evaluación psicológica de la discapacidad intelectual, como discapacidad caracterizada por limitaciones en el funcionamiento intelectual y en la conducta adaptativa, que se manifiesta en habilidades adaptativas conceptuales, sociales y prácticas. Se hace un acercamiento a su valoración interdisciplinar en un ámbito educativo, tratándose la evaluación de esas capacidades, concluyendo en consideraciones generales para la intervención psicopedagógica en el alumnado con esta discapacidad.
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Acknowledgements We would like to thank all of the patients, relatives and control individuals who participated in the study. We are indebted to the late Prof. Walter Muir, Chair of Developmental Psychiatry and Honorary Consultant in Learning Disability Psychiatry, University of Edinburgh, who initiated these studies and whose work was dedicated to the welfare of the patients who generously participated. We are also grateful to Mrs. Pat Malloy for her assistance with DNA collection and MAQ assays screening of the Scottish samples. The Scottish sample collection was supported by a grant from the Chief Scientist Office (CSO), part of the Scottish Government Health and Social Care Directorates. This research was funded by grants from the CSO to B.S.P. (grant CZB/4/610), The Academy of Medical Sciences/Wellcome Trust to M.J. (grant R41455) and The RS Macdonald Charitable Trust (grant D21419 together with J.H.), the Swedish Research Council (grants 2003-5158 and 2006-4472), the Medical Faculty, Umeå University, and the County Councils of Västerbotten and Norrbotten, Sweden, as well as by grants from the Fund for Scientific Research Flanders (FWO-F), the Industrial Research Fund (IWT) and the Special Research Fund of the University of Antwerp, Belgium. M.J. is funded by a Wellcome Trust Clinical Research Fellowship for MB PhD graduates (R42811). We acknowledge the contribution of the personnel of the VIB Genetic Service Facility (http://www.vibgeneticservicefacility.be/) for the genetic analysis of the Swedish samples. Research nurses Gunnel Johansson, Lotta Kronberg, Tage Johansson and Lisbeth Bertilsson are thankfully acknowledged for their help and expertise. The Betula Study was funded by the Swedish Research Council (grants 345-2003-3883 and 315-2004-6977). We also acknowledge the contribution by the staff in the Betula project