Equivalência de estímulos após a formação de classes seqüênciais com portadores de necessidades educativas especiais

Estudos anteriores realizados no Laboratório de Psicologia Experimental da UFPA demonstraram que o treino por encadeamento era mais eficiente na formação de classes sequenciais, demonstrando maior precisão dos participantes nos testes que documentaram as propriedades de uma relação ordinal, especialmente no teste de substitutabilidade. Com base nesse estudo e através de um procedimento de encadeamento para formar oito sequências independentes com estímulos visuais, procurou-se avaliar os efeitos de uma história de treino com estímulos usuais e não usuais e se os membros das classes seqüenciais emergentes eram também equivalentes. Participaram deste estudo três indivíduos portadores de necessidades educacionais especiais, alunos da APAE (Associação de Pais e Amigos dos Excepcionais), todos experimentalmente ingênuos. As sessões experimentais foram realizadas em uma sala da APAE, cinco vezes por semana. Foi utilizado um computador com tela sensível ao toque com um programa especialmente desenvolvido para este estudo. O procedimento contou com fases de treino e testes e foi dividido em duas condições: na Condição I foi utilizado o treino por encadeamento de respostas com quatro conjuntos de estímulos usuais seguido de teste de seqüenciação, testes com pares de estímulos não adjacentes, teste de substitutabilidade de estímulos e de equivalência. Na Condição II foi utilizado o mesmo procedimento da Condição I com quatro novos conjuntos de estímulos não usuais. Os resultados mostraram que asseqüências ensinadas apresentaram as propriedades de uma relação de ordinalidade, durante os testes de substitutabilidade de estímulos. Os participantes foram capazes de formar uma nova seqüência a partir do treino de duas seqüências independentes sugerindo assim a emergência de classes seqüenciais, em ambas as condições experimentais, demonstrando que os estímulos usuais podem ter exercido uma função básica de ordinalidade e ter facilitado o responder seqüencial com os novos estímulos. A emergência de relações de equivalência sugerem também que os estímulos são funcionalmente equivalentes. Estes resultados ampliam e estendem os resultados de estudos anteriores para uma outra população e confirmam empiricamente o que vem sendo apontado pela literatura da área.

A interdisciplinaridade na atenção psicossocial: um olhar fotográfico sobre a psiquiatria

Pós-graduação em Psicologia - FCLAS

Sentindo-se saudável com a capoeira: uma visão fenomenológica a partir de pessoas com deficiência

Pós-graduação em Ciências da Motricidade - IBRC

Apoiador matricial: uma possibilidade de promover a interdisciplinaridade entre profissionais da saúde

This study aims to reflect the organization of the mental health services in primary care from a new organizational arrangement to health work, defined as Matrix Support (Campos, 1999), which aims to build technical and educational support in the relationship between health professionals from mental health professionals in the Family Health Strategy. The methodology used in the Matrix Support the “Wheel” method, which is mediated by a supporter who, through questions and reflections, points out possibilities for case discussions, promotes links between the health teams, discusses the concept of link between professionals and users, strengthens the co-responsability for the actions of health and tries to break the logic related with the services organized by referrals. So the wheels when they occur in health services enables the interdisciplinary, and through it, it is expected to talk about the complexity of the phenomena that surround each subject, so that they overcome the dichotomy between individual and collective, social and biological revealing new values to be incorporated into health practices. In front of this analysis that is theoric and conceptual, allied with the experience from a nursisn area professional that worked in this work method, can be concluded that this experience related here, eas strategic for the health care actions for strengthen based on the Unique Health system and Psych Rebuild principles.

Territórios e sentidos: espaço, cultura, subjetividade e cuidado na atenção psicossocial

In the light of the collective health and of the mental health, the concept of territory is present in multiple dimensions and meanings. It appears in documents that express principles and guidelines of the health policies and in the planning of local actions, and it is a central element to organize the care network in psychosocial attentiveness. This present essay aims to discuss the concept of territory and its uses in the practices of psychosocial care, developing a dialogue with the geographer Milton Santos and the philosophers Gilles Deleuze and Félix Guattari who, from different fields and perspectives, work with this concept. This dialogue made it possible to think the territory in its complexity, as space, process and composition, in order to optimize the relationship between service, culture, production of care and production of subjectivity.

Aggregatibacter actinomycetemcomitans em pacientes com síndrome de down: influência da condição periodontal e higiene bucal

Patients with Down syndrome have varying degrees of mental retardation, physical and motor, and apparently are more susceptible to infectious diseases. Thus, the present study aimed to evaluate the occurrence of Aggregatibacter actinomycetemcomitans in saliva and subgingival biofilms and above of children and adolescents with Down syndrome and analyze the influence of diet, socioeconomic and cultural factors and periodontal condition. After assessing the socio-economic and behavioral, were collected clinical specimens, which were transported to the laboratory of Microbiology and Immunology FOA-UNESP for detection of microorganisms by molecular method and periodontal conditions were evaluated according to the Periodontal Screening Index and Recording. The control group consisted of individuals without the syndrome. The results were analyzed by chi-square test for proportion analysis of variables with three or more categories, or the Mann-Whitney test. The data analysis of this study showed that the occurrence of A. actinomycetemcomitans ranged from 0.0% to 25.0%, both in the group of patients with Down syndrome, as for the control group and this was not affected by socioeconomic characteristics of the target population, either by oral hygiene standards

Service Utilization Patterns of Homeless Youth

Few studies exist on the types of characteristics associated with service utilization (e.g., shelters, food programs) among homeless youth in the U.S. Services are important, however, because without food and shelter, numerous homeless youth resort to trading sex in order to meet their daily survival needs. Access to physical and mental health services gives homeless youth more of an opportunity to integrate into mainstream society than they would otherwise have. To address this gap in our understanding, my study examines what traits (e.g. age, race, abuse history) correlate with the use of shelters, food programs, street outreach, counseling, STD/STI testing, and HIV testing among homeless youth. The Theory of Reasoned Action is used as an ideological framework in conjunction with theoretical constructs of risk, need, and prior service exposure. Data were obtained from the Social Network and Homeless Youth Project (SNHYP), a sample of 249 Midwestern homeless youth ages 14 to 21, which used trained interviewers to conduct structured interviews with youth. Respondents were interviewed in both shelters and on the street over a period of approximately one year. My findings revealed that homeless youth’s service usage varied across gender, sexual orientation, age, having recently held a job, and having ever been physically or sexually abused, in addition to other characteristics. Conversely, service use was not associated with social network size or subjective norms (i.e. attitudes of peers, such as acceptance of condom use) of youths’ social networks. By examining these areas, my study builds on previous research on homeless youth and lays the framework for future research on service utilization by homeless youth.

AN ELDERLY COUPLE AND THEIR LONG LIFE RAISING FOUR SCHIZOPHRENIC CHILDREN

The objective was to identify, among parents of schizophrenics, elements of their daily life in coping with the disorder and the care offered and received through the health system. This is a field research, using thematic oral history. The parents of four patients with schizophrenia took part in this study. Interviews were conducted, recorded and transcribed, based on three instruments (two specific questionnaires and a field diary). Three categories were identified that reflect difficulties experienced in daily life: limitations in knowledge about schizophrenia; fatigue and burden with impairment of quality of life; and uncertainly about the future and resilience strengthened by faith in God. The concept of care was associated with technical procedures, revealing general satisfaction with the care received. The suffering related to living with schizophrenic relatives is intense, and professionals must be prepared to deal with these experiences of pain and suffering from patients with mental disorder and their relatives.

THE SCIENTIFIC PRODUCTION OF PSYCHOSOCIAL CARE CENTERS

The objective of this study was to present a panoramic view of the scientific production regarding Psychosocial Care Centers (CAPS). This literature review was performed using the LILACS, MEDLINE, and SciELO databases. Sixty-eight references were selected, most of which were journal articles (88.24%) and studies related to final graduate study essays (10.29%); 75% of the references found dating from 2003 were included. The following are highlighted among the most frequent objectives: the analysis and evaluation of the new proposal for mental health care, represented by Psychiatric Reform and by CAPS, and the analysis of mental health professionals and their expectations towards the services. The authors hope the present review will help find pathways and implications that lead to new studies and practices in the everyday work of health care services.

Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome

Most patients with Kabuki syndrome (KS) are the only person in their family with the condition. However, familial cases of KS have been described showing evidence that this syndrome can be inherited as a dominant trait with variable expressivity. We report on two related individuals with facial findings characteristic of KS. The proposita had arched eyebrows, long and upward slanting palpebral fissures, cleft lip and palate, retromicrognathia, brachydactyly of hands and feet, stubby fingers, nail hypoplasia, and prominent finger pads. Her mother had eyebrows with dispersed lateral half, long and upward slanting palpebral fissures, retrognathia, abnormal and posteriorly rotated ears, prominent finger pads, brachydactyly of feet, learning difficulties, and psychomotor development delay. DNA sequencing revealed a novel missense mutation in the MLL2 gene in both the proposita and her mother. The mutation (p.R5432Q) was found in the exon 51, within the SET domain of the gene, which confers methyltransferase activity on the protein. Therefore, the epigenetic and transcriptional regulatory properties of this protein may be altered and this suggests that the mutation is the cause of phenotype observed in both the patient and her mother. The clinical signs and the molecular evidence in this family further support the notion that KS is an autosomal dominant condition with variable expressivity. To our knowledge this is the first report of a Brazilian family with recurrence of this syndrome. (C) 2012 Wiley Periodicals, Inc.

A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder

Here, we describe a female patient with autism spectrum disorder and dysmorphic features that harbors a complex genetic alteration, involving a de novo balanced translocation t(2;X)(q11;q24), a 5q11 segmental trisomy and a maternally inherited isodisomy on chromosome 5. All the possibly damaging genetic effects of such alterations are discussed. In light of recent findings on ASD genetic causes, the hypothesis that all these alterations might be acting in orchestration and contributing to the phenotype is also considered. (C) 2012 Wiley Periodicals, Inc.

Meiotic segregation and interchromosomal effect in the sperm of a double translocation carrier: a case report

Abstract Background Infertility is a natural mechanism of selection intended to prevent the delivery of a child with malformations or mental retardation. Male infertility is closely related to chromosomal abnormalities. This study was focused on the analysis of meiotic segregation involving a Robertsonian translocation, 45,XY,der(13;13) [56]/45,XY,der(13;14) [44] and the evaluation of possible interchromosomal effects. Results Hybridisation with LSI 13q14 and subtelomere 14q probes and WCP13 SpectrumGreen and WCP14 SpectrumOrange probes showed a high proportion of unbalanced gametes, corresponding to 71.2% of the spermatozoa. The disomic frequencies of the sexual chromosomes and chromosome 18 of the patient were higher (5.28% and 2.55%, respectively) than those of the control (0.6% and 0.59%, respectively). Conclusion Meiotic segregation studies in sperm are an important tool for genetic counselling of chromosomal aberrations, allowing for a prediction of the risks and consequent implications for the reproductive life. The patient with this rare translocation exhibited meiotic segregation fidelity, and a high rate of unbalanced gametes with disomic spermatozoa.

Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries

Abstract Background Williams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis (SVAS), mental retardation, and overfriendliness comprise typical symptoms of WBS. Although fluorescence in situ hybridization (FISH) is considered the gold standard technique, the microsatellite DNA markers and multiplex ligation-dependent probe amplification (MLPA) could be used for to confirm the diagnosis of WBS. Results We have evaluated a total cohort of 88 patients with a suspicion clinical diagnosis of WBS using a collection of five markers (D7S1870, D7S489, D7S613, D7S2476, and D7S489_A) and a commercial MLPA kit (P029). The microdeletion was present in 64 (72.7%) patients and absent in 24 (27.3%) patients. The parental origin of deletion was maternal in 36 of 64 patients (56.3%) paternal in 28 of 64 patients (43.7%). The deletion size was 1.55 Mb in 57 of 64 patients (89.1%) and 1.84 Mb in 7 of 64 patients (10.9%). The results were concordant using both techniques, except for four patients whose microsatellite markers were uninformative. There were no clinical differences in relation to either the size or parental origin of the deletion. Conclusion MLPA was considered a faster and more economical method in a single assay, whereas the microsatellite markers could determine both the size and parental origin of the deletion in WBS. The microsatellite marker and MLPA techniques are effective in deletion detection in WBS, and both methods provide a useful diagnostic strategy mainly for developing countries.

Sindrome di Down e fattori di rischio nel declino neurocognitivo

Down syndrome (DS) or Trisomy 21, occurring in 1/700 and 1/1000 livebirths, is the most common genetic disorder, characterized by a third copy of the human chromosome 21 (Hsa21). DS is associated with various defects, including congenital heart diseases, craniofacial abnormalities, immune system dysfunction, mental retardation (MR), learning and memory deficiency. The phenotypic features in DS are a direct consequence of overexpression of genes located within the triplicated region on Hsa21. In addition to developmental brain abnormalities and disabilities, people with DS by the age of 30-40 have a greatly increased risk of early-onset of Alzheimer’s disease (AD) and an apparent tendency toward premature aging. Many of the immunological anomalies in DS can be enclosed in the spectrum of multiple signs of early senescence. People with DS have an increased vulnerability to oxidative damage and many factors, including amyloid beta protein (Abeta), genotype ApoE4, oxidative stress, mutations in mitochondrial DNA (mtDNA), impairment of antioxidant enzymes, accelerated neuronal cell apoptosis, are related to neuronal degeneration and early aging in DS. SUBJECTS and METHODS: Since 2007 a population of 50 adolescents and adults with DS, 26 males and 24 females (sex-ratio: M/F = 1.08), has been evaluated for the presence of neurological features, biomarkers and genetic factors correlated with neuronal degeneration and premature aging. The control group was determined by the mother and the siblings of the patients. A neuropsychiatric evaluation was obtained from all patients. The levels of thyroid antibodies (antiTg and antiTPO) and of some biochemical markers of oxidative stress, including homocysteine (tHcy), uric acid, cobalamin, folate were measured. All patients, the mother and the siblings were genotyped for ApoE gene. RESULTS: 40% of patients, with a mild prevalence of females aged between 19 and 30 years, showed increased levels of antiTg and antiTPO. The levels of tHcy were normal in 52% patients and mildly increased in 40%; hyperomocysteinemia was associated with normal levels of thyroid antibodies in 75% of patients (p<0.005). The levels of uric acid were elevated in 26%. Our study showed a prevalence of severe MR in patients aged between 1-18 years and over 30 years. Only 3 patients, 2 females and one male, over 30 years of age, showed dementia. According to the literature, the rate of Down left-handers was high (25%) compared to the rest of population and the laterality was associated with increased levels of thyroid antibodies (70%). 21.5% of patients were ApoE4 positive (ApoE4+) with a mean/severe MR. CONCLUSIONS: Until now no biochemical evidence of oxidative damage and no deficiency or alteration of antioxidant function in our patients with DS were found. mtDNA sequencing could show some mutations age-related and associated with oxidative damage and neurocognitive decline in the early aging of DS. The final aim is found predictive markers of early-onset dementia and a target strategy for the prevention and the treatment of diseases caused by oxidative stress. REFERENCES: 1) Rachidi M, Lopes C: “Mental retardation and associated neurological dysfunctions in Down syndrome: a consequence of dysregulation in critical chromosome 21 genes and associated molecular pathways.” - Eur J Paediatr Neurol. May;12(3):168-82 (2008). 2) Lott IT, Head E: “Down syndrome and Alzheimer's disease: a link between development and aging.” - Ment Retard Dev Disabil Res Rev, 7(3):172-8 (2001). 3) Lee HC, Wei YH: “Oxidative Stress, Mitochondrial DNA Mutation, and Apoptosis in Aging.” - Exp Biol Med (Maywood), May;232(5):592-606 (2007).

Molekulare Untersuchung des Wolf-Hirschhorn-Syndroms

Das Wolf-Hirschhorn-Syndrom (WHS) ist ein komplexes und variables Fehlbildungs- Retardierungssyndrom, das durch Deletion in der distalen Chromosomenregion 4p16.3 hervorgerufen wird und dessen Ätiologie und Pathogenese bisher weitgehend unverstanden sind. Die Zielsetzung in der vorliegenden Arbeit bestand in der Identifizierung und vorläufigen Charakterisierung neuer Gene, die an der Entstehung des Syndroms beteiligt sein könnten. Die Wolf-Hirschhorn-Syndrom-kritische Region (WHSCR) konnte zu Beginn der vorliegenden Arbeit auf einen ca. 2 Mb großen Bereich zwischen den Markern D4S43 und D4S142 eingegrenzt werden. Für die Identifizierung neuer Gene wurden zunächst drei größere genomische Cosmid-/PAC-Contigs (I-III) im Bereich der Marker D4S114 bis D4S142 erstellt und mittels Exonamplifikation auf transkribierte Bereiche (Exons) untersucht. Es konnten insgesamt 67 putative 'Exons' isoliert werden, von denen einige bereits bekannten Genen (ZNF141, PDEB, MYL5, GAK, DAGK4 und FGFR3) entsprechen. Zwei dieser Gene konnten im Rahmen dieser Arbeit erstmals (DAGK4) bzw. genauer (GAK) in die distale Region 4p16.3 kartiert werden. Die restlichen Exons können aufgrund von Homologievergleichen und/oder EST-cDNA-Homologien vermutlich neuen Genen oder auch Pseudogenen (z. B. YWEE1hu) zugeordnet werden. Durch die im Verlaufe der vorliegenden Arbeit publizierte weitere Eingrenzung der WHSCR auf einen 165 Kb-großen Bereich proximal des FGFR3-Gens konzentrierten sich weitere Untersuchungen auf die detaillierte Analyse der WHSCR zwischen dem Marker D4S43 und FGFR3. Mit Hilfe von Exonamplifikation bzw. computergestützter Auswertung vorliegender Sequenzdaten aus diesem Bereich ('GRAIL', 'GENSCAN' und Homologievergleiche in den EST-Datenbanken des NCBI) konnten mehrere neue Gene identifiziert werden. In distaler-proximaler Reihenfolge handelt es sich dabei um die Gene LETM1, 51, 43, 45, 57 und POL4P. LETM1 kodiert für ein putatives Transmembran-Protein mit einem Leucin-Zipper- und zwei EF-Hand-Motiven und könnte aufgrund seiner möglichen Beteiligung an der Ca2+-Homeostase und/oder der Signal-transduktion zu Merkmalen des WHS (Krampfanfällen, mentale Retardierung und muskuläre Hypotonie) beitragen. Das Gen 51 entspricht einem in etwa zeitgleich durch Stec et al. (1998) und Chesi et al. (1998) als WHSC1 bzw. MMSET bezeichnetem Gen und wurde daher nicht weiter charakterisiert. Es wird genauso wie das Gen 43, das zeitgleich von Wright et al. (1999b) als WHSC2 beschrieben werden konnte und eine mögliche Rolle bei der Transkriptionselongation spielt, ubiquitär exprimiert. Das in der vorliegenden Arbeit identifizierte Gen 45 zeigt demgegenüber ein ausgesprochen spezifisches Expressionsmuster (in Nervenzellen des Gehirns sowie in Spermatiden). Dies stellt zusammen mit der strukturellen Ähnlichkeit des putativen Genprodukts zu Signalmolekülen einen interessanten Zusammenhang zu Merkmalen des WHS (beispielsweise Kryptorchismus, Uterusfehlbildungen oder auch neurologische Defekte) her. Demgegenüber handelt es sich bei dem Gen 57 möglicherweise um ein trunkiertes Pseudogen des eRFS-Gens auf Chromosom 6q24 (Wallrapp et al., 1998). Das POL4P-Gen schließlich stellt allein aufgrund seiner genomischen Lokalisation sowie seiner möglichen Funktion (als DNA-Polymerase-ähnliches Gen) kein gutes Kandidatengen für spezifische Merkmale des Syndroms dar und wurde daher nicht im Detail charakterisiert. Um die Beteiligung der Gene an der Ätiologie und Pathogenese des Syndroms zu verstehen, ist die Entwicklung eines Mausmodells (über das Einfügen gezielter Deletionen in das Mausgenom) geplant. Um dies zu ermöglichen, wurde in der vorliegenden Arbeit die Charakterisierung der orthologen Region bei der Maus vorgenommen. Zunächst wurden die orthologen Gene der Maus (Letm1, Whsc1, Gen 43 (Whsc2h), Gen 45 und Pol4p) identifiziert. Durch die Erstellung sowie die genaue Kartierung eines murinen genomischen P1/PAC-Klon-Contigs konnte gezeigt werden, daß die murinen Gene Fgfr3, Letm1, Whsc1, Gen 43 (Whsc2h), Gen 45 und Pol4p sowie einige weitere der überprüften EST-cDNA-Klone der Maus in einem durchgehenden Syntänieblock zwischen Mensch (POL4P bis FGFR3) und Maus (Mmu 5.20) enthalten sind, der in seiner genomischen Ausdehnung in etwa den Verhältnissen beim Menschen (zwischen POL4P und FGFR3) entspricht.