O conceito de incontrolabilidade na pesquisa experimental e na terapia comportamental da depressão

A Análise do Comportamento oferece diversas explicações para o fenômeno denominado depressão, uma das quais envolve a referência ao modelo do desamparo aprendido. O desamparo aprendido é definido como a dificuldade de aprendizagem resultante da exposição a estímulos aversivos incontroláveis. Como produtos desta exposição, surgiriam padrões comportamentais comuns àqueles observados em indivíduos depressivos, a exemplo de inatividade. Em razão do paralelo entre os efeitos da experiência com incontrolabilidade sobre o repertório comportamental em humanos e não-humanos, o desamparo aprendido tem sido apontado como um modelo animal de depressão. Frequentemente, menções à experiência com incontrolabilidade são encontradas na literatura em associação com o desamparo aprendido, cuja ocorrência é estritamente vinculada àquela condição. A incontrolabilidade também parece relevante para a instalação de respostas identificadas com a depressão. No presente trabalho, descrevem-se as definições de incontrolabilidade referidas por publicações da área comportamental experimental e clínica, discutindo-se a pertinência deste conceito em explicações funcionais da depressão na Análise do Comportamento, bem como suas possíveis contribuições para um modelo de intervenção clínica da depressão à luz desta abordagem. A relação entre incontrolabilidade e depressão é tratada a partir de cinco categorias de análise: 1) Variabilidade de fenômenos investigados, de resultados produzidos e de definições oferecidas; 2) Efeitos diferenciais da incontrolabilidade frente a estímulos aversivos e apetitivos; 3) Enfoques transversais das variáveis relevantes: instaladoras x mantenedoras, históricas x atuais, exclusivas x sobrepostas a outros fenômenos; 4) Incontrolabilidade em Humanos: suposições numerosas, evidências empíricas escassas e Contingências Verbais; 5) Tratamento da depressão: pontos de contato e de distanciamento frente à investigação empírica. Diferentes usos do conceito de incontrolabilidade são assinalados, indicando-se como a mesma topografia verbal é emitida por diversos autores sob controle de eventos distintos. Variáveis relevantes para a generalidade do desamparo aprendido – enquanto modelo experimental e equivalente animal da depressão – são discutidas, justificando-se a necessidade de maior investigação de aspectos como: correspondência entre o conceito de incontrolabilidade e a condição experimentalmente estabelecida no laboratório; efeitos de diferentes tipos de estimulação incontrolável; produção de desamparo aprendido em humanos e participação de processos verbais; diferentes efeitos da sinalização pré-aversiva de estímulos incontroláveis. Assinala-se que, em geral, o tratamento analítico-comportamental da depressão é constituído por procedimentos com foco sobre a aprendizagem de que responder controla o ambiente e pode disponibilizar reforçadores. É examinado o papel da incontrolabilidade na instalação da depressão, constatando-se, por fim, que se apresenta como condição suficiente, porém não necessária para a ocorrência e/ou manutenção do fenômeno.

O conceito de TDAF: concepções e práticas de profissionais da saúde e educação

Pós-graduação em Saúde Coletiva - FMB

Ear and electrode effects reduce within-group variability in middle latency response amplitude measures

Objectives: To establish normative amplitude values for relative difference measurements of the middle latency response (MLR) in normal-hearing pediatrics and to determine if these measurements provided a significant reduction of within-group variability when compared to raw, absolute amplitude measures. A relative amplitude difference is defined in the present paper as the difference in Na-Pa amplitude between two electrodes (e.g. vertical bar Na-Pa at C3 minus Na-Pa at C4 vertical bar, or electrode effects) or between two ears (e.g. vertical bar Na-Pa on left ear stimulation minus Na-Pa on right ear stimulation vertical bar, or ear effects). In contrast, an absolute amplitude is defined as a single Na-Pa measurement made at one electrode for stimulation of one ear (e.g. Na-Pa measured at C3 on left ear stimulation). Design: Cross-sectional study. Study sample: 155 pediatrics with normal peripheral and central hearing, and no history of psychological, neurological, or learning disability issues. Results: Within-group variability was significantly smaller for relative differences when compared to absolute amplitude measures. Electrode effects showed significantly less variability than ear effects. Normative values for ear and electrode effects were reported. Conclusions: Relative differences may provide better utility in the clinical diagnosis of central auditory pathology in pediatrics when compared to absolute amplitude measures because these difference measures show significantly lower variability when examined across subjects.

Progettualità e interventi educativi nella dislessia. Il progetto ProDSA e le prospettive future di ricerca.

Il presente lavoro è strutturato in quattro parti analizzando e comparando le pubblicazioni del settore scientifico italiano, anglofono e tedesco di riferimento. Nel primo capitolo della tesi viene proposta una riflessione sulle parole che ruotano attorno al tema dei DSA e della disabilità. Nel secondo capitolo vengono presentati, a partire dalla letteratura scientifica di riferimento, gli indicatori di rischio che segnalano possibili disturbi specifici di apprendimento e le caratteristiche di apprendimento dei DSA mettendo in luce potenzialità e talenti spesso intrinseci. Nel terzo capitolo viene vagliata la normativa di riferimento, in particolare la recente Legge 170/2010 e le relative Linee Guida. Nel quarto capitolo, partendo dal tema della diffusione delle tecnologie dell’informazione e della comunicazione (da ora in poi TIC) nel mondo della scuola, sono ampiamente trattati i principali strumenti compensativi (sintesi vocale, libri digitali, mappe concettuali, Lavagna Interattiva Multimediale) e le misure dispensative adottabili. Nel quinto capitolo viene analizzato in tutte le sue parti il Piano Didattico Personalizzato (da ora in poi PDP) e viene proposto un possibile modello di PDP pubblicato sul sito dell'Ufficio per l’Ambito Territoriale di Bologna. Nel sesto capitolo della tesi viene presentato il Progetto Regionale ProDSA. Il Progetto, rivolto a studenti, con diagnosi di DSA, delle scuole secondarie di primo grado e del primo biennio delle secondarie di secondo grado dell’Emilia-Romagna, ha visto, grazie a un finanziamento della Regione, la consegna in comodato d'uso gratuito di tecnologie compensative agli alunni che hanno aderito. La sezione empirica del presente lavoro indaga l’uso reale che è stato fatto degli strumenti proposti in comodato d’uso e le motivazioni legate alla scelta di non utilizzarli in classe. Nel settimo capitolo vengono proposti strumenti progettati per rispondere concretamente alle criticità emerse dall'analisi dei dati e per sensibilizzare il mondo della scuola sulle caratteristiche dei DSA.

Long Term Follow-up of Morbidity and Quality of Life Associated with Isolated Gastroschisis

Gastroschisis is a birth defect in which an opening in the abdominal wall allows herniation of the viscera. Prenatal counseling regarding gastroschisis typically discusses that, although these infants often endure a difficult neonatal course, they experience few long-term complications. However, information regarding long-term outcomes is based on limited studies that lack specificity. Therefore, we aimed to study the long-term morbidity and quality of life in children born with gastroschisis in a large and diverse population drawn from the Texas Birth Defects Registry (TBDR). Study packets with informed consent, a questionnaire, and the Pediatric Quality of Life Inventory Generic Core Scale 4.0 (PedsQL 4.0) in English and Spanish were mailed to 1,112 parents of children born with isolated gastroschisis in Texas between 1999 and 2008 via the TBDR. Information was abstracted from the TBDR for 58 mothers of children with gastroschisis who returned study materials. Three hundred fifty five packets were returned to sender, giving a response rate of 7.7%. Children born with gastroschisis had quality of life scores that were not significantly different than expected (p = 0.981). However, factors such as having a learning disability (p = 0.001) and missing school due to gastrointestinal issues (p = 0.020) were found to significantly decrease quality of life. Overall, children with gastroschisis had a significantly increased risk for learning disabilities regardless of whether they were preterm (p = 0.021) or full term (p = 0.021). Additionally, there appeared to be an increased risk for auditory impairment in Caucasian children (p < 0.0005). Therefore, while overall long-term quality of life is not significantly altered for children born with gastroschisis, the previously unreported increased risk for learning disabilities and possible association with hearing impairment are important findings that should be conveyed to prospective parents.

In vivo evidence that erythropoietin protects neurons from ischemic damage

Erythropoietin (EPO) produced by the kidney and the liver (in fetuses) stimulates erythropoiesis. In the central nervous system, neurons express EPO receptor (EPOR) and astrocytes produce EPO. EPO has been shown to protect primary cultured neurons from N-methyl-d-aspartate (NMDA) receptor-mediated glutamate toxicity. Here we report in vivo evidence that EPO protects neurons against ischemia-induced cell death. Infusion of EPO into the lateral ventricles of gerbils prevented ischemia-induced learning disability and rescued hippocampal CA1 neurons from lethal ischemic damage. The neuroprotective action of exogenous EPO was also confirmed by counting synapses in the hippocampal CA1 region. Infusion of soluble EPOR (an extracellular domain capable of binding with the ligand) into animals given a mild ischemic treatment that did not produce neuronal damage, caused neuronal degeneration and impaired learning ability, whereas infusion of the heat-denatured soluble EPOR was not detrimental, demonstrating that the endogenous brain EPO is crucial for neuronal survival. The presence of EPO in neuron cultures did not repress a NMDA receptor-mediated increase in intracellular Ca2+, but rescued the neurons from NO-induced death. Taken together EPO may exert its neuroprotective effect by reducing the NO-mediated formation of free radicals or antagonizing their toxicity.

Copy Number Variations in DISC1 and DISC1-Interacting Partners in Major Mental Illness

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

Comparison of Reading Development Across Socioeconomic Status in the United States

It is well known that higher parental socioeconomic status (SES) predicts better child reading outcomes, but little work has been done to unpack this finding. The main overall question addressed by this project was whether cognitive models of the two main reading outcomes, single word reading (SWR) and reading comprehension (RC), performed similarly across levels of parental SES. The current study predicted a differential relation between parental SES and both predictors and outcomes because of the known large relation between parental SES and child oral language development. Three questions examined the mediating effects of cognitive predictors on the relation between parental SES and reading outcomes, the moderating effects of SES on the developmental trajectories of reading outcomes, and the strength of the relationship between SES and the two reading outcomes. Participants were part of two large and comprehensive datasets: the cross-sectional Colorado Learning Disability Research Center (CLDRC; n=1554) sample, and the International Longitudinal Twin Study (ILTS; n=463 twin pairs) sample. In terms of cognitive predictors, the relation between SES and SWR was disproportionately mediated by two language skills, vocabulary (VOC) and phonological awareness (PA). For the RC models, both SWR and oral listening comprehension (OLC) did not disproportionally mediate the relation between RC and SES; however, full mediation was not exhibited. With regard to the trajectory of reading outcomes, SES moderated the starting values of SWR and RC, and the slopes of SWR development. When performance on the control measures of early reading skills (e.g., print knowledge, vocabulary, and decoding skills) was included the models, the moderating effects of SES were completely accounted for by these measures. In terms of outcomes, SES had a stronger relation to RC than to SWR, especially at later ages. These findings have implications for interventions aimed at improving reading outcomes in children from lower SES families.

A pharmacy led program to review anti-psychotic prescribing for people with dementia

Background: Anti-psychotics, prescribed to people with dementia, are associated with approximately 1,800 excess annual deaths in the UK. A key public health objective is to limit such prescribing of anti-psychotics. Methods: This project was conducted within primary care in Medway Primary Care Trust (PCT) in the UK. There were 2 stages for the intervention. First, primary care information systems including the dementia register were searched by a pharmacy technician to identify people with dementia prescribed anti-psychotics. Second, a trained specialist pharmacist conducted targeted clinical medication reviews in people with dementia initiated on anti-psychotics by primary care, identified by the data search. Results: Data were collected from 59 practices. One hundred and sixty-one (15.3%) of 1051 people on the dementia register were receiving low-dose anti-psychotics. People with dementia living in residential homes were nearly 3.5 times more likely to receive an anti-psychotic [25.5% of care home residents (118/462) vs. 7.3% of people living at home (43/589)] than people living in their own homes (p?Learning Disability Teams. Of the remaining 70 patients the anti-psychotic was either withdrawn, or the dosage was reduced, in 43 instances (61.4%) following the pharmacy-led medication review. Conclusions: In total 15.3% of people on the dementia register were receiving a low-dose anti-psychotic. However, such data, including the recent national audit may under-estimate the usage of anti-psychotics in people with dementia. Anti-psychotics were used more commonly within care home settings. The pharmacist-led medication review successfully limited the prescribing of anti-psychotics to people with dementia.

Observatório nacional da educação: concepções dos professores dos anos iniciais sobre a não aprendizagem

O presente trabalho tem por justificativa compreender como os professores percebem a não aprendizagem, esse entendimento faz-se necessário entender para poder lidar com essa temática, cada vez mais latente nas escolas. Os objetivos do estudo são: compreender qual o pressuposto epistemológico que predomina na prática docente dos professores de anos iniciais; interpretar como se consolidam os processos de diagnóstico e seus encaminhamentos; e investigar quais as estratégias elaboradas pela escola para trabalhar com alunos diagnosticados com dificuldades de aprendizagem (DA) em sala de aula. A pesquisa possui caráter qualitativo, sendo utilizado como método de coleta de dados o grupo focal e como método de análise dos dados o Discurso do Sujeito Coletivo (DSC). O contexto do estudo é uma amostra representativa das escolas públicas da rede municipal de ensino regular do Ensino Fundamental da zona urbana da cidade do Rio Grande, RS. Os professores indicaram, em suas falas, indícios de uma concepção empirista, apontando vestígios a respeito da transmissão de conhecimento, bem como indicações de uma concepção construtivista. De modo geral, os professores destacaram ao longo da interação a importância da família inserida no contexto escolar e no que acontece na sala de aula com as crianças. Enfatizaram também que ao longo de sua formação não tiveram conhecimentos que poderiam servir de base para auxiliar em sua prática. Ao identificarem crianças com DA em sua sala de aula, os professores relataram que os encaminham para um atendimento especifico na escola, a sala de recursos. Desse modo, analisar as concepções dos professores e fazê-los problematizar sobre sua prática pode ser uma estratégia para encarar e diminuir o processo de não aprendizagem.

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

Xq28 duplications encompassing MECP2 have been described in male patients with a severe neurodevelopmental disorder associated with hypotonia and spasticity, severe learning disability, stereotyped movements, and recurrent pulmonary infections. We report on standardized brain magnetic resonance imaging (MRI) data of 30 affected patients carrying an Xq28 duplication involving MECP2 of various sizes (228 kb to 11.7 Mb). The aim of this study was to seek recurrent malformations and attempt to determine whether variations in imaging features could be explained by differences in the size of the duplications. We showed that 93% of patients had brain MRI abnormalities such as corpus callosum abnormalities (n = 20), reduced volume of the white matter (WM) (n = 12), ventricular dilatation (n = 9), abnormal increased hyperintensities on T2-weighted images involving posterior periventricular WM (n = 6), and vermis hypoplasia (n = 5). The occipitofrontal circumference varied considerably between >+2SD in five patients and <-2SD in four patients. Among the nine patients with dilatation of the lateral ventricles, six had a duplication involving L1CAM. The only patient harboring bilateral posterior subependymal nodular heterotopia also carried an FLNA gene duplication. We could not demonstrate a correlation between periventricular WM hyperintensities/delayed myelination and duplication of the IKBKG gene. We thus conclude that patients with an Xq28 duplication involving MECP2 share some similar but non-specific brain abnormalities. These imaging features, therefore, could not constitute a diagnostic clue. The genotype-phenotype correlation failed to demonstrate a relationship between the presence of nodular heterotopia, ventricular dilatation, WM abnormalities, and the presence of FLNA, L1CAM, or IKBKG, respectively, in the duplicated segment.

Disability focus groups: A strategy for including people with disability in parishes

This paper reports the findings of an exploratory qualitative study examining parish awareness of the need to include individuals with disability in genuine and meaningful ways. Based on the interviews of over thirty persons, including people with disability, parents, parish workers, volunteers and human service workers within church agencies in the Catholic Archdiocese of Brisbane, Australia, the authors devised a process for including individuals in parishes. This process, known as a Disability Focus Group, was then implemented in one parish as a pilot study. The outcomes of the pilot are discussed.

Nonverbal narratives: Listening to people with severe intellectual disability

This article describes an exploratory study that examined the perspectives of practitioners who spend much of their working day listening to and in some ways interpreting for people with severe intellectual disabilities. On the basis of focus group interviews with 23 professional disability-sector workers, including speech therapists, psychologists, and human service workers, the article reports on the importance of a practitioner's values and experience in successful interactions with individuals who rely on self-developed nonsymbolic communication repertoires. The article includes a discussion of the likelihood of including individuals with severe intellectual disabilities in narrative research.

TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease.

TBC1D7 forms a complex with TSC1 and TSC2 that inhibits mTORC1 signaling and limits cell growth. Mutations in TBC1D7 were reported in a family with intellectual disability (ID) and macrocrania. Using exome sequencing, we identified two sisters homozygote for the novel c.17_20delAGAG, p.R7TfsX21 TBC1D7 truncating mutation. In addition to the already described macrocephaly and mild ID, they share osteoarticular defects, patella dislocation, behavioral abnormalities, psychosis, learning difficulties, celiac disease, prognathism, myopia, and astigmatism. Consistent with a loss-of-function of TBC1D7, the patient's cell lines show an increase in the phosphorylation of 4EBP1, a direct downstream target of mTORC1 and a delay in the initiation of the autophagy process. This second family allows enlarging the phenotypic spectrum associated with TBC1D7 mutations and defining a TBC1D7 syndrome. Our work reinforces the involvement of TBC1D7 in the regulation of mTORC1 pathways and suggests an altered control of autophagy as possible cause of this disease.