964 resultados para Pervasive developmental disorder


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Water intakes in response to hypertonic, hypovolemic, and dehydrational stimuli were investigated in mice lacking angiotensin II as a result of deletion of the angiotensinogen gene (Agt-/- mice), and in C57BL6 wild-type (WT) mice. Baseline daily water intake in Agt-/- mice was approximately threefold that of WT mice because of a renal developmental disorder of the urinary concentrating mechanisms in Agt-/- mice. Intraperitoneal injection of hypertonic saline (0.4 and 0.8 mol/l NaCl) caused a similar dose-dependent increase in water intake in both Agt-/- and WT mice during the hour following injection. As well, Agt-/- mice drank appropriate volumes of water following water deprivation for 7 h. However, Agt-/- mice did not increase water or 0.3 mol/l NaCl intake in the 8 h following administration of a hypovolemic stimulus (30% polyethylene glycol sc), whereas WT mice increased intakes of both solutions during this time. Osmoregulatory regions of the brain [hypothalamic paraventricular and supraoptic nuclei, median preoptic nucleus, organum vasculosum of the lamina terminalis (OVLT), and subfornical organ] showed an increased number of neurons exhibiting Fos-immunoreactivity in response to intraperitoneal hypertonic NaCl in both Agt-/- mice and WT mice. Polyethylene glycol treatment increased Fos-immunoreactivity in the subfornical organ, OVLT, and supraoptic nuclei in WT mice but only increased Fos-immunoreactivity in the supraoptic nucleus in Agt-/- mice. These data show that brain angiotensin is not essential for the adequate functioning of neural pathways mediating osmoregulatory thirst. However, angiotensin II of either peripheral or central origin is probably necessary for thirst and salt appetite that results from hypovolemia

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Background There is increasing interest in oxytocin as a therapeutic to treat social deficits in autism spectrum disorders (ASD). The aim of this study was to investigate the efficacy of a course of oxytocin nasal spray to improve social behavior in youth with ASD. Methods In a double-blind, placebo-controlled trial across two Australian university sites between February 2009 and January 2012, 50 male participants aged between 12 and 18 years, with Autistic or Asperger's Disorder, were randomized to receive either oxytocin (n = 26) or placebo (n = 24) nasal sprays (either 18 or 24 International Units), administered twice-daily for 8 weeks. Participants were assessed at baseline, after 4- and 8-weeks of treatment, and at 3-month follow-up. Primary outcomes were change in total scores on the caregiver-completed Social Responsiveness Scale and clinician-ratings on the Clinical Global Impressions-Improvement scale. Secondary assessments included caregiver reports of repetitive and other developmental behaviors and social cognition. Clinical trial registration: Australian New Zealand Clinical Trials Registry www.anzctr.org.au ACTRN12609000513213. Results Participants who received oxytocin showed no benefit following treatment on primary or secondary outcomes. However, caregivers who believed their children received oxytocin reported greater improvements compared to caregivers who believed their child received placebo. Nasal sprays were well tolerated and there was no evidence of increased side effects resulting from oxytocin administration. Conclusions This is the first evaluation of the efficacy for a course of oxytocin treatment for youth with ASD. Although results did not suggest clinical efficacy, further research is needed to explore alternative delivery methods, earlier age of intervention, and the influence of caregiver expectation on treatment response.

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This dissertation aims to analyze the specialized educational services(AEE, Portuguese) implemented in four municipal schools of Mossoró/RN, with attention to the process of collaboration between regular classroom teachers and multifunctional resource classroom teachers. We use as theoretical reference the works of Vygotsky and others authors that write about education and collaboration. To accomplish the research we chose a qualitative approach, using as a methodological resources: study of cases, bibliographical, documental and field research. For the field research we make observations in regular and multifunctional classrooms. We produce group intervieus with regular and multifunctional teachers. From the analysis performed we identify that the concepts and the practices of teachers in regular classrooms changes, with integrationist predominance. The AEE s teachers had more inclusive conceptions and greater investment in continuing education than the regular classroom teachers. The practices of regular classroom teachers are more traditional, what makes the learning process more difficult for the students, even more for the students with disabilities and pervasive developmental disorders. Teachers of AEE was more interactive and creative, however, the attention to the students was more individual. In three of the four schools surveyed stand out the efforts of the teachers of specialist classroom to collaborate with regular school teachers, by notes, e-mails, phone calls and resource sharing. In one of the four was noted a good collaborative interactive between the AEE teachers and the regular school teachers. The school with the worst improvement was that in which the actions of the teachers of the AEE were limited to actions in multifunctional resource classroom. The resistance to these professionals was identified in the statements of the regular classroom teachers. Another issue raised was the lack of time for teachers to conduct AEE actions that contribute to the process of school students, because their working hours is restricted to the opposite turn in school. Transport difficulties for the students to attend the resource classroom multifunctional and the lack of dialogue with the health sector was challenges for the four schools. The families were with a practically constant interest to interact with the AEE teachers in the four schools. Thus, we believe that the presence of AEE school can make contributions to the educational process, however, it is necessary more attention to the collaborative process between teachers and the school community

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Acheiropodia is an autosomal recessive developmental disorder presenting with bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. This severely handicapping condition appears to affect only the extremities, with no other systemic manifestations reported. Recently, a locus for acheiropodia was mapped on chromosome 7q36. Herein we report the narrowing of the critical region for the acheiropodia gene and the subsequent identification of a common mutation in C7orf2-the human orthologue of the mouse Lmbr1 gene-that is responsible for the disease. Analysis of five families with acheiropodia, by means of 15 polymorphic markers, narrowed the critical region to 1.3 cM, on the basis of identity by descent, and to <0.5 Mb, on the basis of physical mapping. Analysis of C7orf2, the human orthologue of the mouse Lmbr1 gene, identified a deletion in all five families, thus identifying a common acheiropodia mutation. The deletion was identified at both the genomic-DNA and mRNA level. It leads to the production of a C7orf2 transcript lacking exon 4 and introduces a premature stop codon downstream of exon 3. Given the nature of the acheiropodia phenotype, it appears likely that the Lmbr1 gene plays an important role in limb development.

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This is a case report of macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) associated with autism. Studies on genetic or environmental syndromes associated with autism can provide genetic markers or uncover relevant events, and are very important for the definition of autism subgroups in future molecular research.

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A presentation of two cases of Dubowitz syndrome in monozigous twin girls. The syndrome is a rare congenital disorder, the main clinical aspects of which include retarded intrauterine and post-natal growth, microcephaly, peculiar face and an eczemic rash, resulting from photosensitivity of the regions exposed to sunlight.

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Autism constitutes one of the most important pathologies of the pervasive developmental disorders (PDDs). It has early age-onset and is characterized by delay and deviance of social, communicative and cognitive development. Today, the presence of genetic factors in its etiology is well known, with familial recurrence of autism and other psychiatric conditions. Autism does not have usual Mendelian inheritence and presents genetic heterogeneity. Strong association has been found between autism and the fragile X syndrome (FMR-1 gene) and with tuberous sclerosis (Bourneville's syndrome). However, many different chromosomal abnormalities were recently described in autistic patients, mainly of chromosome 7 and 15. There are some genes on 15q11-q13 whose products have expression in the central nervous system, mainly synapses, which are subunits of neurotransmitters or ion channels (UBE3A, GABRA5, GABRB3, GABRG3, CHRNA7 e ITO). Some regions of chromosome 7 also have important developmental genes, as EN-2 and HOXA, which act on central nervous system formation. There seems then to exist genes associated with autism etiology on chromosomes 7,15 and X. The detailed study of these chromosomes can produce knowledgment about the biological mechanisms involved in this disturbance.

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A manufactured product (Ectoplus®) composed by a cypermethrin (44.7%) and dichlorvos (4.2%) mixture was administered (10mg/kg/day, orally, by gavage) to pregnant rats, during the periods of gestation+lactation, gestation, and lactation. Control mothers received vehicle aqueous solution during the gestation+lactation period. With the progeny, in the 1-15 post-natal days (PNDI-15) there were observed alterations in the periods of occurrence of teeth, hair, unfolding of ears, and in the developmental period for following reflexes: postural, palmar grasp, negative geotaxis, and acoustic startle reflex. After weaning (PND21), there were observed the presence of cypermethrin and dichlorvos in the blood brain and liver; decrease in weight of liver, of cholinesterase activity in the plasma, liver, and brain, and hepatic metabolizing activity of drugs; alterations of levels of gamma glutamyl transferase enzymes, of creatinine, and of potassium in the serum of the animals. In conclusion, neonatal exposure to a formulated mixture of cypermethrin and dichlorvos is inductive to alterations in characteristics that indicate somatic and neuromuscular development of the progeny, and in certain biochemical parameters. The results suggest that enzymatic assessment associated with somatic and neuromotor assessment can be important markers of developmental characteristics in neonatal toxicity by pesticide formulations based on mixtures of insecticides.

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Patients with motor deficiency have variable difficulties with mechanical plaque control, and as a consequence, the incidence of dental caries and periodontal disease can be higher in these patients. The objective of this study was to evaluate the clinical and microbiological efficacy of a toothpaste containing 1% chlorhexidine, which was used by patients with motor deficiency for 14 days. The reduction in plaque and gingival index and the impact on salivary microorganisms was evaluated. We conclude that the motivation of caregivers to carry out oral hygiene for patients with mental and motor deficiency is of great importance and is effective in reducing the formation of plaque as long as it is continuously reinforced. The use of chlorhexidine- containing toothpaste significantly reduced the plaque index and microorganism count between days 0 and 14. A reduction was also observed in the group that used a dentifrice without the chlorhexidine, but this difference was not significant. © 2010 Special Care Dentistry Association and Wiley Periodicals, Inc.

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O Transtorno de Déficit de Atenção e Hiperatividade (TDAH) é um distúrbio específico do desenvolvimento, de alta prevalência, observado em crianças e adultos, compreendendo prejuízos na inibição comportamental, atenção sustentada, resistência à distração e na regulação do nível de atividade do indivíduo diante de determinadas situações, sendo frequente o comportamento motor excessivo e inadequado. Devido a estas características, alunos com o transtorno têm acumulado prejuízos em diversas, principalmente quando se trata de desenvolvimento acadêmico. Isto tem fomentado pesquisas como forma de desenvolver tecnologia comportamental para minimizar o impacto do transtorno na vida do indivíduo. Pesquisadores da área de educação musical também tem se interessado por entender de que forma a educação musical pode auxiliar alunos com TDAH a desenvolver estratégias que reduzam o custo do aprendizado para eles. O presente estudo teve por objetivo investigar como a educação musical pode funcionar como ferramenta de intervenção para a promoção de mudanças no repertório comportamental de alunos com características de risco para TDAH. A pesquisa foi dividida em três estudos: triagem de prevalência do transtorno, análise de mudanças comportamentais em alunos com características de risco para TDAH e avaliação do aprendizado musical. Os resultados indicam que dentro da amostra estudada (N=320), 52,18% apresentaram escore de características compatíveis com o transtorno. Em relação a mudanças comportamentais, observou-se ampliação do repertório de comportamentos adequados e redução no repertório de comportamentos inadequados. Quando se estabeleceu a avaliação do aprendizado musical e comparação com um aluno com desenvolvimento típico, observou-se que ambos apresentaram desenvolvimento semelhante.

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Este trabalho configura-se numa proposição de estudo de caso, que procurou discutir e orientar a prática pedagógica de alunos da educação especial, com vistas ao seu desenvolvimento acadêmico. Foi realizado no decorrer de um ano letivo, numa unidade escolar de uma rede municipal de ensino do oeste paulista. Contou com a participação de professores do ensino comum, da educação especial, gestores da escola e fez parte de um conjunto de ações desenvolvidas no projeto de extensão universitária, numa proposição conjunta entre universidade e escola. Num primeiro momento foram realizadas observações do cotidiano escolar de um aluno com transtorno global do desenvolvimento, autismo, e de uma aluna com duplo diagnóstico, paralisia cerebral e autismo, associada à coleta de informações sobre as trajetórias educacionais e os diagnósticos clínicos. Com base nessas informações efetivaram-se intervenções psicoeducacionais com os alunos e professoras especialistas e aplicou-se a Escala de Comportamento Adaptativo Vineland. De modo geral, identificou-se um padrão restrito de aprendizagens funcionais e comportamentos interacionas nos casos observados. Ao final da proposta questionou-se qual a contribuição das práticas pedagógicas, ofertadas na sala de aula comum, para o desenvolvimento educacional dos alunos em questão. As análises foram compartilhadas com os profissionais da escola e com os respectivos familiares, e direcionamentos foram apontados a favor da manutenção no ensino comum ou ao encaminhamento à escola especial.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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The present research integrates a network of studies called National Monitoring Center for Special Education (NMCSE) which studies the Multi-purpose Feature Rooms (MFRs) in regular schools. We aim to investigate whether the service offered by such rooms, maintained by the Department of Education of the Municipality of Araraquara, in São Paulo State, Brazil, is being successful at supporting the education of children and youth with special needs, pervasive developmental disorders and high skilled/gifted individuals. We have also investigated the limits and possibilities of such rooms concerning the set of services offered to their participants. In order to conduct the present research, we have performed: an interview with the Special Education Program manager from the abovementioned Department of Education; and the analysis of a Training Program that MFRs teachers must take. The training program consists of ten morning and afternoon shift meetings. The analyzed data leads us to conclude that the policy of implementation of MFRs, even in this relatively restricted universe is seen from different perspectives. Some interpretations are still permeated by the clinical model, considering individual action. The challenges observed in the classrooms show that the cooperation among teachers still occur randomly and, among other difficulties raised by them, is the selection of the right placement methods to identify eligible students who will benefit from the Specialized Educational Service (SES). In addition, teaching evaluation was considered fragile, as well as the training and the general requirements demanded in order to achieve the expected results.