Caracterização de rearranjos cromossômicos citogeneticamente equilibrados associados a quadros clínicos

Este estudo teve como objetivos (a) identificar mecanismos pelos quais rearranjos cromossômicos citogeneticamente equilibrados possam estar associados de maneira causal a determinados quadros clínicos e (b) contribuir para a compreensão dos mecanismos de formação desses rearranjos. Para isso, foram estudados 45 rearranjos cromossômicos citogeneticamente equilibrados (29 translocações, 10 inversões e seis rearranjos complexos), detectados em pacientes que apresentavam malformações congênitas, comprometimento do desenvolvimento neuropsicomotor ou déficit intelectual. Foram 31 rearranjos cromossômicos esporádicos, três familiais que segregavam com o quadro clínico e mais 11 rearranjos cromossômicos herdados de genitores fenotipicamente normais. Inicialmente os pontos de quebra desses rearranjos foram mapeados por hibridação in situ fluorescente (FISH). A busca por microdeleções e duplicações genômicas foi realizada por a-CGH. A investigação dos pontos de quebra prosseguiu com a aplicação da técnica de Mate-Pair Sequencing (MPS), que permite localizar as quebras em segmentos de 100 pb - 1 kb, na maioria dos casos. Para obter os segmentos de junção das quebras no nível de pares de bases, os segmentos delimitados por MPS foram sequenciados pelo método de Sanger. A análise por aCGH revelou microdeleções ou microduplicações localizadas nos cromossomos rearranjados, em 12 dos 45 pacientes investigados (27%). A análise de 27 rearranjos por MPS permitiu a caracterização dos pontos de junção das quebras. MPS expandiu o número de pontos de quebra, detectados por análise do cariótipo ou aCGH, de 114 para 156 (em resolução < 2kb, na maioria dos casos). O número de pontos de quebra/rearranjo variou de 2 a 20. Os 156 pontos de quebra resultaram em 86 variantes estruturais equilibradas e outras 32 variantes não equilibradas. Perdas e ganhos de segmentos submiscroscópicos nos cromossomos rearranjados constituíram a principal causa ou, provavelmente, contribuíram para o quadro clínico de 12 dos 45 pacientes. Em cinco desses 12 rearranjos foram detectadas por MPS a interrupção de genes já relacionados à doença, ou provável alteração de sua região reguladora, contribundo para o quadro clínico. Em quatro dos 33 rearranjos não associados a perdas ou ganhos de segmentos, a análise por MPS revelou a interrupção de genes que já foram anteriormente relacionados a doenças, explicando-se, assim, as características clínicas dos portadores; outro rearranjo pode ter levando alteração da expressão gênica de gene sensível a dosagem e ao quadro clínico. Um rearranjo cromossômico familial, identificado na análise após bandamento G como uma translocação equilibrada, t(2;22)(p14;q12), segregava com quadro de atraso do desenvolvimento neuropsicomotor e dificuldade de aprendizado associados a dismorfismos. A combinação das análises por FISH, aCGH e MPS revelou que se tratava, na verdade, de rearranjo complexo entre os cromossomos 2, 5 e 22, incluindo 10 quebras. A segregação de diferentes desequilíbrios submicroscópicos em indivíduos afetados e clinicamente normais permitiu a compreensão da variabilidade clínica observada na família. Rearranjos equilibrados detectados em indivíduos afetados, mas herdados de genitores clinicamente normais, são, em geral, considerados como não tendo relação com o quadro clínico, apesar da possibilidade de desequilíbrios cromossômicos gerados por permuta desigual na meiose do genitor portador do rearranjo. Neste trabalho, a investigação de 11 desses rearranjos por aCGH não revelou perdas ou ganhos de segmentos nos cromossomos rearranjados. No entanto, a análise por aCGH da portadora de um desses rearranjos - inv(12)mat - revelou deleção de 8,7 Mb no cromossomo 8, como causa de seu fenótipo clínico. Essa deleção estava relacionada com outro rearranjo equilibrado também presente em sua mãe, independente da inversão. Para compreender os mecanismos de formação de rearranjos citogeneticamente equilibrados, investigamos os segmentos de junção no nível de pares de base. A análise por MPS que levou, na maioria dos casos, ao mapeamento dos pontos de quebras em segmentos <1kb permitiu o sequenciamento pelo método de Sanger de 51 segmentos de junções de 17 rearranjos. A ocorrência de blunt fusions ou inserções e deleções <10 pb, e a ausência de homologia ou a presença de micro homologia de 2 pb a 4 pb de extensão indicaram o mecanismo de junção de extremidades não homólogas (non-homologous end joinging; NHEJ), na maioria das 51 junções caracterizadas. As características de três dos quatro rearranjos mais complexos, com 17-20 quebras, indicaram sua formação pelo mecanismo de chromothripsis. Este estudo mostra a importância da análise genômica de variações de número de cópias por microarray, juntamente com o mapeamento dos pontos de quebra por MPS, para determinar a estrutura de rearranjos cromossômicos citogeneticamente equilibrados e seu impacto clínico. O mapeamento dos segmentos de junção por MPS, permitindo o sequenciamento pelo método de Sanger, foi essencial para a compreensão de mecanismos de formação desses rearranjos

Molecular Genetic Basis of Opposite Gene by Environment Interactions in Reading Disability and Attention Deficit/Hyperactivity Disorder

The goal of this study is to better understand the genetic basis of Reading Disability (RD) and Attention Deficit Hyperactivity Disorder (ADHD) by examining molecular G x E interactions with parental education for each disorder. Research indicates that despite sharing genetic risk factors, RD and ADHD are influenced by different types of G x E interactions with parental education - a diathesis stress interaction in the case of ADHD and a bioecological interaction in RD. In order to resolve this apparent paradox, we conducted a preliminary study using behavioral genetic methods to test for G x E interactions in RD and the inattentive subtype of ADHD (ADHD-I) in the same sample of monozygotic and dizygotic Colorado Learning Disabilities Research Center same-sex twin pairs (DeFries et al., 1997), and our findings were consistent with the literature. We posited a genetic hypothesis for this opposite pattern of interactions, which suggests that only genes specific to each disorder enter into these opposite interactions, not the shared genes underlying their comorbidity. This study sought to further investigate this paradox using molecular genetics methods. We examined multiple candidate genes identified for RD or related language phenotypes and those identified for ADHD for G x E interactions with parental education. The specific aims of this study were as follows: 1) partition known risk alleles for RD and/or related language phenotypes and ADHD-I into those which are pleiotropic and non-pleiotropic by testing each risk allele for association with both RD and ADHD-I, 2) explore the main effects of parental education on both RD and ADHD-I, 3) address G-E correlations, and 4) conduct exploratory G x E interaction analyses in order to test the genetic hypothesis. Analyses suggested a number of pleiotropic genes that influence both RD and ADHD; however, results did not remain after correcting for multiple comparisons. Although exploratory G x E interaction findings were not significant after multiple comparison correction, results suggested a G x E interaction in the bioecological direction with KIAA0319, parental education, and ADHD-I. Given the limited power in the current study, replication of these findings with larger samples is necessary.

Comprehensive Validation Of A Measure Of Student School Engagement: A Pilot Study Of Middle School Students

Although it may sound reasonable that American education continues to be more effective at sending high school students to college, in a study conducted in 2009, The Council of the Great City Schools states that "slightly more than half of entering ninth grade students arrive performing below grade level in reading and math, while one in five entering ninth grade students is more than two years behind grade level...[and] 25% received support in the form of remedial literacy instruction or interventions" (Council of the Great City Schools, 2009). Students are distracted with technology (Lei & Zhao, 2005), family (Xu & Corno, 2003), medical illnesses (Nielson, 2009), learning disabilities and perhaps the most detrimental to academic success, the very lack of interest in school (Ruch, 1963). In a Johns Hopkins research study, Building a Graduation Nation - Colorado (Balfanz, 2008), warning signs were apparent years before the student dropped out of high school. The ninth grade was often referenced as a critical point that indicated success or failure to graduate high school. The research conducted by Johns Hopkins illustrates the problem: students who become disengaged from school have a much greater chance of dropping out of high school and not graduating. The first purpose of this study was to compare different measurement models of the Student School Engagement (SSE) using Factor Analysis to verify model fit with student engagement. The second purpose was to determine the extent to which the SSE instrument measures student school engagement by investigating convergent validity (via the SSE and Appleton, Christenson, Kim and Reschly's instrument and Fredricks, Blumenfeld, Friedel and Paris's instrument), discriminant validity (via Huebner's Student Life Satisfaction Survey) and criterion-related validity (via the sub-latent variables of Aspirations, Belonging and Productivity and student outcome measures such as achievement, attendance and discipline). Discriminant validity was established between the SSE and the Appleton, Christenson, Kim and Reschly's model and Fredricks, Blumenfeld, Friedel and Paris's (2005) Student Engagement Instruments (SEI). When confirming discriminant validity, the SSE's correlations were weak and statistically not significant, thus establishing discriminant validity with the SLSS. Criterion-related validity was established through structural equation modeling when the SSE was found to be a significant predictor of student outcome measures when both risk score and CSAP scores were used. The third purpose of this study was to assess the factorial invariance of the SSE instrument across gender to ensure the instrument is measuring the intended construct across different groups. Conclusively, configural, weak and metric invariances were established for the SSE as a non-significant change in chi-square indicating that all parameters including the error variances were invariant across groups of gender. Engagement is not a clearly defined psychological construct; it requires more research in order to fully comprehend its complexity. Hopefully, with parental and teacher involvement and a sense of community, student engagement can be nurtured to result in a meaningful attachment to school and academic success.

LD or not?

Cover title.

Developmental speech and language disorders : hope through research /

Mode of access: Internet.

Attitudes towards the sexuality of adults with an intellectual disability: parents, support staff, and a community sample

Attitudes toward the sexuality of adults with intellectual disability were assessed in parents and carers of adults with intellectual disability and in a community sample. An instrument that contained items relating to eight aspects of sexuality (sexual feelings, sex education, masturbation, personal relationships, sexual intercourse, sterilisation, marriage, and parenthood) was developed and found to have good internal consistency and test-retest reliability. Age was associated with attitudes, with those aged 60 and above holding more conservative attitudes. Parents and staff differed in their attitudes, with parents holding more conservative attitudes. This difference was the product of age differences between the groups; nevertheless it may produce some confusion for adults with intellectual disability unless it is addressed appropriately. Both parent and staff groups were less positive about parenthood than about other aspects of sexuality, however the community group did not differ in their views when attitudes towards parenthood were compared with the remaining items Of the scale.

Profile of paediatric occupational therapy practice in Australia

Background: The purpose of the present study was to describe a profile of Australian paediatric occupational therapy practice in terms of theories, assessments and interventions used with the most frequently seen client groups. Methods: An ex post facto survey design was utilised. A purpose-designed survey was mailed to 600 occupational therapists identified by OT Australia as working in paediatrics. Results: The response rate was 55% (n = 330). Respondents in the sample worked chiefly with children with developmental delays, learning disabilities, neurological impairments, and infants/toddlers. Theoretical models used by paediatric clinicians that were common to the most frequently seen client groups focused on sensory integration/multisensory approaches, occupational performance, and client-centred practice. Assessment tools most frequently used were the Test of Visual Motor Integration, Sensory Profile, Bruininks-Oseretsky Test of Motor Proficiency, Handwriting Speed Test, and Motor-Free Visual Perception Test. The most often used treatment methods across the four most frequently seen client groups were parent/caregiver education, sensory integration/stimulation techniques, and managing activities of daily living. Conclusions: Paediatric occupational therapists appeared to draw on a range of theoretical models. With the exception of the Sensory Profile, the assessment and treatment methods most frequently used are not congruent with the most commonly used theoretical models. It is critical that the assessment and treatment methods used are conceptually consistent with the theoretical models that guide practice. Occupational therapists need to examine the evidence and determine whether their clinical practice is grounded in the best contemporary theoretical models, assessments and interventions.

Community and cluster centre residential services for adults with intellectual disability: long-term results from an Australian-matched sample

Changes in residential accommodation models for adults with intellectual disability (ID) over the last 20 years in Australia, the United Kingdom and the United States have involved relocation from institutions primarily into dispersed homes in the community. But an evolving alternative service style is the cluster centre. This paper reports on the relocation of a matched group of 30 pairs of adults with moderate and severe IDs and challenging behaviour who were relocated from an institution into either dispersed housing in the community or cluster centres but under the same residential service philosophy. Adaptive and maladaptive behaviour, choice-making and objective life quality were assessed prior to leaving the institution and then after 12 and 24 months of living in the new residential model. Adaptive behaviour, choice-making and life quality increased for both groups and there was no change in level of maladaptive behaviour compared with levels exhibited in the institution. However, there were some significant differences between the community and cluster centre group as the community group increased some adaptive skills, choice-making and objective life quality to a greater extent than the cluster centre group. Both cluster centre and dispersed community living offer lifestyle and skill development advantages compared with opportunities available in large residential institutions. Dispersed community houses, however, offer increased opportunities for choice-making, acquisition of adaptive behaviours and improved life quality for long-term institutionalized adults with IDs.

A PSICOPEDAGOGIA SERIA UMA POSSIBILIDADE PARA O ENFRENTAMENTO DAS DIFICULDADES DE APRENDIZAGEM?

A prática do professor em sala de aula é de extrema importância para um bom desenvolvimento do educando. No ensino básico podemos perceber grande número de crianças com dificuldades de aprendizagem relacionadas à leitura e à escrita elas sabem ler o que está escrito, mas não conseguem interpretar o que estão lendo. Diante desse contexto, este estudo teve por objetivo realizar uma discussão para verificar se, efetivamente, os conhecimentos psicopedagógicos são facilitadores para a organização de intervenções na prática pedagógica de professores que enfrentam dificuldades de aprendizagem de alunos no processo de leitura e escrita, e investigar se os professores que possuem os conhecimentos psicopedagógicos têm mais sucesso em termos de resultados satisfatórios frente às intervenções com seus alunos, em relação aos professores que não possuem estes conhecimentos. Este estudo se delimitou no âmbito do Ensino Fundamental, e teve como sujeitos, seis professores pedagogos que atuam ou atuaram, nos 3º ou 4º anos do Ciclo I (das séries iniciais) em escolas públicas na grande São Paulo três que possuem o curso de psicopedagogia e três que não possuem o curso de psicopedagogia, e teve como motivadoras as seguintes questões: A prática psicopedagógica pode contribuir de forma positiva no contexto escolar? O professor pedagogo, com os conhecimentos psicopedagógicos, tem mais facilidade para lidar com dificuldades de aprendizagem? É realizada, também, uma recuperação histórica sobre o surgimento da Psicopedagogia no Brasil e seu campo de atuação, além de reflexões sobre se a discussão acerca das dificuldades de aprendizagem está relacionada com as dificuldades de ensinagem". O referencial teórico básico, para o aprofundamento de algumas discussões propostas, baseou-se em autores como Bossa, 2011; Fernández, 1991; Paín, 1992; Polity, 2002 e Franco, 2003. Para a coleta de dados dos sujeitos selecionados, realizamos entrevistas semi-estruturadas, gravadas em áudio e transcritas, para posterior organização de categorias de análises, por meio da metodologia de análise de conteúdo proposta por Franco (2003). Através desta investigação constatamos que como a psicopedagogia possui um caráter interdisciplinar, muito da sua contribuição teórica e prática vêm de outras áreas do conhecimento, como por exemplo, da pedagogia. Assim, muito das práticas interventivas dos professores com psicopedagogia para com os alunos que enfrentam dificuldades de aprendizagem na leitura e na escrita, são as mesmas que os professores, sem psicopedagogia, utilizam em sala de aula.

INTERVENÇÃO PSICOMOTORA LÚDICA EM CRIANÇAS COM DIFICULDADES DE APRENDIZAGEM

Este estudo investiga evidências da influência de uma intervenção psicomotora lúdica na construção do pensamento operatório concreto e desempenho neuromotor de alunos com dificuldade de aprendizagem da 2ª série do ensino fundamental, de escola pública do Estado de São Paulo. Utiliza-se de método experimental. Manipula a intervenção psicomotora lúdica, (Variável Independente-VI), com o objetivo de verificar a sua possível influência no desempenho cognitivo relativo a noções de Conservação, Classificação, Seriação e Aritmética, assim como no neuromotor relativo a Agilidade e Orientação Direita-Esquerda (Variáveis Dependentes - VDs) - totalizando 6 VDs. A amostra compõe-se por 18 escolares, na faixa etária de 7 a 11 anos, de ambos os sexos, organizados em dois grupos: experimental (N=9) e controle (N=9). O procedimento experimental desenvolve-se em 16 sessões, constando de três etapas. Aos dois grupos são aplicados, individualmente, pré-teste (1ª etapa) e pós-teste (3ª etapa), constando de duas sessões individuais em cada etapa, com a utilização dos seguintes instrumentos: Provas Operatórias de Piaget, teste Piaget-Head de Orientação Direita-Esquerda e subteste de Aritmética do teste de Desempenho Escolar de Stein, teste de Shuttle Run . A 2ª etapa, exclusiva do grupo experimental, consta da intervenção psicomotora lúdica, em 12 sessões grupais de 50 minutos cada. Utilizou-se da prova de Wilcoxon, para comparação dos resultados entre os grupos. Os resultados referentes às noções de Classificação ( p=0,010), Seriação (p=0,034), Aritmética (p=0,157) e Orientação Direita- Esquerda (p=0,007), indicam que ocorreu uma diferença significativa estatisticamente, considerando-se que os participantes apresentaram desempenho superior nos pós-testes. Nas demais provas, foi observado melhor desempenho nos dois grupos, o que, portanto, não pode ser atribuído à intervenção. Conclui-se que o objetivo do trabalho foi atingido, visto que o programa mostrou-se eficiente para desenvolver o pensamento operatório e o neuromotor em relação a Orientação Direita-Esquerda dos participantes.(AU)

Are poor mathematics skills associated with visual deficits in temporal processing?

Developmental learning disabilities such as dyslexia and dyscalculia have a high rate of co-occurrence in pediatric populations, suggesting that they share underlying cognitive and neurophysiological mechanisms. Dyslexia and other developmental disorders with a strong heritable component have been associated with reduced sensitivity to coherent motion stimuli, an index of visual temporal processing on a millisecond time-scale. Here we examined whether deficits in sensitivity to visual motion are evident in children who have poor mathematics skills relative to other children of the same age. We obtained psychophysical thresholds for visual coherent motion and a control task from two groups of children who differed in their performance on a test of mathematics achievement. Children with math skills in the lowest 10% in their cohort were less sensitive than age-matched controls to coherent motion, but they had statistically equivalent thresholds to controls on a coherent form control measure. Children with mathematics difficulties therefore tend to present a similar pattern of visual processing deficit to those that have been reported previously in other developmental disorders. We speculate that reduced sensitivity to temporally defined stimuli such as coherent motion represents a common processing deficit apparent across a range of commonly co-occurring developmental disorders.

Out in psychology:lesbian, gay, bisexual, trans and queer perspectives

There has been a recent explosion of interest in Lesbian, Gay, Bisexual and Trans Perspective Psychology amongst students and academics, and this interest is predicted to continue to rise. Recent media debates on subjects such as same–sex marriage have fuelled interest in LGBTQ perspectives. This edited collection showcases the latest thinking in LGBTQ psychology. The book has 21 chapters covering subjects such as same sex parenting, outing, young LGBTQ people, sport, learning disabilities, lesbian and gay identities etc. The book has an international focus, with contributors from UK, US, Canada, Australia and New Zealand List of Contributors. Foreword by Jerry J. Bigner. 1. Introducing Out in Psychology (Victoria Clarke and Elizabeth Peel). 2. From lesbian and gay psychology to LGBTQ psychologies: A journey into the unknown (Victoria Clarke and Elizabeth Peel) 3. What comes after discourse analysis for LGBTQ psychology(Peter Hegarty). 4. Recognising race in LGBTQ psychology: Power, privilege and complicity (Damien W. Riggs). 5. Personality, individual differences and LGB psychology (Gareth Hagger Johnson). 6. Heteronormativity and the exclusion of bisexuality in psychology (Meg Barker). 7. A minority within a minority: Experiences of gay men with intellectual disabilities.(Christopher Bennett and Adrian Coyle). 8. Closet talk: The contemporary relevance of the closet in lesbian and gay interaction (Victoria Land and Celia Kitzinger) 9. Romance, rights, recognition, responsibilities and radicalism: Same-sex couples’ accounts of civil partnership and marriage (Victoria Clarke, Carole Burgoyne and Maree Burns). 10. The experience of social power in the lives of trans people (Clair Clifford and Jim Orford). 11. What do they look like and are they among us? Bisexuality, (dis.closure and (Maria Gurevich, Jo Bower, Cynthia M. Mathieson and Bramilee Dhayanandhan). 12. Heterosexism at work: Diversity training, discrimination law and the limits of liberal individualism (Rosie Harding and Elizabeth Peel). 13. Out on the ball fields: Lesbians in sport (Vikki Krane and Kerrie J. Kauer). 14. Homophobia, rights and community: Contemporary issues in the lives of LGB people in the UK (Sonja J. Ellis). 15. Striving for holistic success: How lesbians come out on top (Faith Rostad and Bonita C. Long). 16. On Passing: The Interactional Organization of Appearance Attributions in the Psychiatric Assessment of Transsexual Patients (Susan A. Speer and Richard Green). 17. Alcohol and gay men: Consumption, promotion and policy responses (Jeffrey Adams, Timothy McCreanor and Virginia Braun). 18. Towards a clinical-psychological approach to address the hetero sexual concerns of intersexed women (Lih-Mei Liao). 19. Educational psychology practice with LGB youth in schools: Individual and institutional interventions (Jeremy J. Monsen and Sydney Bailey). 20. Que(e)rying the meaning of lesbian health: Individual(izing and community discourses (Sara MacBride-Stewart). 21. Transsexualism: Diagnostic dilemmas, transgender politics and the future of transgender care (Katherine Johnson). Index.

Expanding Vocabulary and Improving Comprehension Through the Use of Graphic Organizers

Expanding Vocabulary and Improving Comprehension Through the Use of Graphic Organizers

An Analysis of Individual Differences for a Computer Self-Regulated Reading Comprehension Task

Recent developments in brain imagery have made it possible to explore links between brain functions and psychological phenomena, opening a window between mind, brain and behavior. However, behavior cannot be understood solely by looking at the brain alone; the roles of the context, task, and practice are potent forces in shaping behavior. According to these ideas, we present a work experience to reflect on: 1) the variations of how people learn, 2) the learning potential of students with learning disabilities, and 3) computers as a tool to learn and to analyze student’s reading comprehension processes. In this vein, we present and discuss an example of how different types of readers (average, dyslexia, and hemispherectomy) undertake a computer self-regulated reading comprehension task. This is not an experimental research study and results cannot be generalized. Theoretical and educational implications are discussed in line with the proposed aims.