Navegando por Palavras-chave "Intellectual disabilities"

Agora exibindo 1 - 2 de 2
  • Nenhuma Miniatura disponível
    Item
    Somente Metadadados
    Inclusão escolar, deficiência intelectual e educação infantil: Uma discussão dos subsídios do MEC sobre o tema (1996-2010)
    (Universidade Federal de São Paulo (UNIFESP), 2010) Cirilo, Camila Paixão [UNIFESP]; Carvalho, Maria de Fátima; http://lattes.cnpq.br/1875338693729537; Universidade Federal de São Paulo (UNIFESP)
    This dissertation has its foundations based in the many questions arisen by the issue of the scholar inclusion of children with disabilities, related to what we have learned in this pedagogy course and how through its teachings the actions of professionals are guided in the field of scholar inclusion for these children. It is proposed to seek, lift, highlight and discuss among which the MEC (Ministry of Education and Culture) has to offer on this subject, the recommendations and suggestions, explicit and implicit in the official discourse on the inclusion of children with intellectual disabilities in early childhood education. To accomplish this survey, we chose a temporal cut that comprehends the period from the promulgation of the “LDBEN” (Law of Directives and Bases of National Education) in 1996, through 2010, highlighting the range of materials which is aimed for the teaching of children with intellectual disabilities and from this set, selecting those that are directed to early childhood education and describe them by setting its specificity, its provenance, authorship and objectives. The discussion goes through the similarities, differences and contradictions that these materials keep among themselves and about the ways of thinking about child development and early childhood education which have based our academic formation through out our pedagogy course. To approach these issues and the relationship between early childhood education, child development, intellectual impairment and school enrollment, we have worked with contributions from the sociology of education and cultural-historical psychology of Vygotsky, based on the contributions from Brazilian researchers from these theoretical stream‟s debate. In this dissertation‟s survey process, it has taken place the realization, among other things, that the scope of the subsidies provided by the MEC for "early childhood education - school enrollment - intellectual disability" has not been properly addressed, characterizing the lack of reference to the specificities that define intellectual disabilities and childhood education. This observation has allowed us to reflect on our initial assumptions, expectations and goal seeking, questioning them and going forward onto the building, through and implementation of this monograph‟s dissertation program, of the knowledge, and subsidies which allow us to think differently about children with intellectual disabilities, their development and education.
  • Imagem de Miniatura
    Item
    Acesso aberto (Open Access)
    Síndrome da deleção do braço curto do cromossomo 18: avaliação clínica e citogenômica
    (Universidade Federal de São Paulo (UNIFESP), 2016-03-30) Meloni, Vera de Freitas Ayres [UNIFESP]; Melaragno, Maria Isabel de Souza Aranha [UNIFESP]; http://lattes.cnpq.br/0678071850781758; http://lattes.cnpq.br/4404095921360586; Universidade Federal de São Paulo (UNIFESP)
    Chromosome 18p deletion syndrome [del(18p)] (OMIM 146390) has been well described in the literature with over 300 patients reported on, but few of them evaluated by cytogenomic techniques. Objective: We studied 12 patients with 18p deletion based on clinical, developmental and cytogenomic findings. Methods: The patients were evaluated by a specific clinical protocol, including immunological, endocrinological and neuropsychological assessments. The cytogenetic study was performed by G-banding karyotype, SNP-array (Genome-Wide Human SNP Array 6.0, Affymetrix) and FISH-BAC techniques. Results: A total of 12 patients, seven males and five females, previously diagnosed with 18p deletion were evaluated. The patients were classified in three groups according to the cytogenomic findings, as follows: five with pure 18p deletion (group I), two with ring chromosome 18 (group II) and five with 18p deletion associated with duplication or deletion of another chromosome (group III). Conclusions: The results showed a wide variation in intra- and inter-chromosomal rearrangements in patients, both inherited as de novo, as well as a wide variability of phenotypic manifestations and comorbidities. Although the literature indicates 18p11.1 as the most frequent breakpoint, our patients presented different breakpoints: 18p11.21 (5/12), 18p11.23 (2/12), 18p11.31 (4/12), and 18p11.32 (1/12). The main clinical findings were: proportionate short stature; microcephaly; ectopic pituitary; growth hormone deficiency; hypothyroidism; intellectual disability; cardiac anomalies; scoliosis; and keratosis pilaris. The distinguished facial dysmorphic features were: ocular hypertelorism; ptosis; and strabismus.The neuropsychological assessments showed IQ scores from borderline intellectual functioning to moderate intellectual disability. The SNP-array technique permitted a better chromosome breakpoint definition and, associated to the specific clinical protocol, provided a better genotype-phenotype correlation revealing genes that might influence the patient?s phenotype. Some genes located in the 18p deleted segment seem to play important roles in the patient?s phenotype, such as TGIF1, GNAL, LAMA1 and LPIN2 genes. The clinical protocol associated with cytogenomic results provided the recognition of relevant genes to the clinical manifestations found, such as holoprosencephaly microforms, keratosis pilaris, cryptorchidism, scoliosis and IgA deficiency. In addition, the multidisciplinary approach of this study allowed making recommendations for medical and neuropsychological evaluation on 18p deletion patients for better clinical monitoring and appropriate genetic counseling for each family.