Linguagem narrativa e fluência na síndrome de down: uma revisão

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

Avaliação da aprendizagem e deficiência intelectual na perspectiva de professores do ensino comum

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.

Estimativa da frequência da inversão SWBinv-1 entre pais de portadores ds síndrome de Williams-Beuren e pais de filhos normais do Brasil

Pós-graduação em Ciências Biológicas (Genética) - IBB

Deficiência intelectual e adaptação curricular sob o olhar de teses e dissertações

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Inclusão da pessoa com deficiência intelectual no mercado de trabalho: avaliação de um programa de capacitação profissional

Pós-graduação em Psicologia do Desenvolvimento e Aprendizagem - FC

Opinião de professores sobre a sexualidade e a educação sexual de alunos com deficiência intelectual

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.

Intervenções com a atividade física em crianças e adolescentes com deficiência intelectual: uma meta-análise

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...

Sexualidade e deficiencias: dando vozes aos adolescentes por meio de oficinas pedagógicas

Pós-graduação em Educação Sexual - FCLAR

A inclusão de estudantes com deficiência intelectual na educação básica primária da Colômbia: políticas públicas e práticas pedagógicas / Diego Fernando Rosero Ruiz

Pós-graduação em Educação - FFC

O trabalho educativo com alunos portadores de deficiência intelectual

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

KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: Report of another family with metopic craniosynostosis

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.

Inflammatory and Immunological parameters in adults with Down syndrome

Abstract Background The increase in life expectancy within the general population has resulted in an increasing number of elderly adults, including patients with Down syndrome (DS), with a current life expectancy of about 50 years. We evaluate the parameters of humoral and cellular immune response, the quantitative expression of the regulator of calcineurin1 gene (RCAN1) and the production of cytokines. The study group consisted of adults DS (n = 24) and a control group with intellectual disability without Down syndrome (ID) (n = 21) and living in a similar environmental background. It was evaluated serology, immunophenotyping, the quantitative gene expression of RCAN1 and the production of cytokines. Results In the DS group, the results showed an increase in NK cells, CD8, decreased CD19 (p < 0.05) and an increase spontaneous production of IFNgamma, TNFalpha and IL-10 (p < 0.05). There was not any difference in RCAN1 gene expression between the groups. Conclusions These data suggest a similar humoral response in the two groups. The immunophenotyping suggests sign of premature aging of the immune system and the cytokine production show a proinflammatory profile.

Analisi di “Copy Number Variants” ed identificazione di nuovi geni candidati per l’Autismo e Ritardo Mentale

I disturbi dello spettro autistico (DSA) ed il ritardo mentale (RM) sono caratterizzati da un’eziologia genetica complessa ed eterogenea. Grazie ai recenti sviluppi nella ricerca genomica, è stato possibile dimostrare il ruolo di numerose copy number variants (CNVs) nella patogenesi di questi disturbi, anche se nella maggior parte dei casi l’eziologia rimane ancora sconosciuta. Questo lavoro riguarda l’identificazione e la caratterizzazione dei CNVs in famiglie con DSA e RM. E’ stata studiata una microdelezione in 7q31 che coinvolge i geni IMMP2L e DOCK4, trasmessa dalla madre con dislessia a due figli con autismo ed una figlia con dislessia. Nella stessa famiglia segrega una seconda microdelezione in 2q14 che inattiva il gene CNTNAP5 ed è trasmessa dal padre (con tratti autistici) ai due figli con autismo. Abbiamo quindi ipotizzato che i geni DOCK4 e CNTNAP5 potessero essere implicati, rispettivamente, nella suscettibilità a dislessia e DSA. Lo screening di numerosi individui affetti ha supportato la nostra ipotesi, con l’identificazione di una nuova microdelezione di DOCK4 che segrega con la dislessia, e 3 nuove varianti missenso in CNTNAP5 in individui con autismo. Dall’analisi genomica comparativa su array (aCGH) di individui con RM, è stata identificata una delezione nella regione 7q31.32, che coinvolge il gene CADPS2, in due fratelli con RM e tratti autistici, probabilmente ereditata dalla madre. Lo screening di mutazione di questo gene in individui con autismo o RM, ha portato all’identificazione di 3 varianti non sinonime, assenti nei controlli, ed ereditate per via materna. Poiché CADPS2 risiede in una regione genomica che contiene loci soggetti ad imprinting, abbiamo ipotizzato che il gene CADPS2 possa essere anch’esso caratterizzato da imprinting, con espressione monoallelica materna. Lo studio di espressione di CADPS2 in cellule del sangue ha avvalorato questa ipotesi, implicando perciò CADPS2 come un nuovo gene di suscettibilità per il RM e DSA.

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.

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.

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy

OBJECTIVE To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and previously reported patients. METHODS We recruited newly diagnosed patients with STXBP1 mutations through an international network of clinicians and geneticists. Furthermore, we performed a systematic literature search to review the phenotypes of all previously reported patients. RESULTS We describe the phenotypic features of 147 patients with STXBP1-E including 45 previously unreported patients with 33 novel STXBP1 mutations. All patients have intellectual disability (ID), which is mostly severe to profound (88%). Ninety-five percent of patients have epilepsy. While one-third of patients presented with Ohtahara syndrome (21%) or West syndrome (9.5%), the majority has a nonsyndromic early-onset epilepsy and encephalopathy (53%) with epileptic spasms or tonic seizures as main seizure type. We found no correlation between severity of seizures and severity of ID or between mutation type and seizure characteristics or cognitive outcome. Neurologic comorbidities including autistic features and movement disorders are frequent. We also report 2 previously unreported adult patients with prominent extrapyramidal features. CONCLUSION De novo STXBP1 mutations are among the most frequent causes of epilepsy and encephalopathy. Most patients have severe to profound ID with little correlation among seizure onset, seizure severity, and the degree of ID. Accordingly, we hypothesize that seizure severity and ID present 2 independent dimensions of the STXBP1-E phenotype. STXBP1-E may be conceptualized as a complex neurodevelopmental disorder rather than a primary epileptic encephalopathy.