Increased frequency of the autism broader phenotype in mothers transmitting etiological CNVs to sons affected by Autism Spectrum Disorder (ASD)

Introduction: Autism Spectrum Disorder (ASD) is a frequent and complex neurodevelopmental disorder, characterized by impairments in social communication and repetitive behaviors and with a high male to female ratio: ~4:1. Genetic factors, including rare Copy Number Variants (CNVs), have a substantial impact in ASD risk 1, and are associated with specific phenotypic manifestations 2. Recent studies reported that rare inherited CNVs are enriched in mothers of ASD children compared with mothers of controls and are preferentially transmitted from mothers to ASD children suggesting a sex bias in CNV transmission; further, the imbalanced transmission of small pathogenic CNVs from unaffected mothers to their sons with ASD has been described 3, 4. An increased prevalence of autism - like personality traits is found in unaffected relatives of ASD children, suggesting a genetic liability of a broader autism phenotype (BAP) 5. The BAP in parents of autistic children can be assessed by the Social Responsiveness Scale (SRS) 6 and Broad Autism Phenotype Questionnaire (BAPQ) 7 reports . The SRS is 65 - item questionnaire to identify sub - clinical social impairments and interpersonal behaviour in individuals . The BAPQ is a 36 - item questionnaire measures social aloofness, rigid personality, and pragmatic language deficits in both parents and children.

Avaliação da dor durante a exodontia: estudo experimental em meio clínico universitário

Dissertação para obtenção do grau de Mestre no Instituto Superior de Ciências da Saúde Egas Moniz

Mental Preparation for Piano Performance Using Principles of Aikido

Thesis (D.M.A.)--University of Washington, 2016-05

Genetic effects on alcohol dependence risk: re-evaluating the importance of psychiatric and other heritable risk factors

Background. Genetic influences have been shown to play a major role in determining the risk of alcohol dependence (AD) in both women and men; however, little attention has been directed to identifying the major sources of genetic variation in AD risk. Method. Diagnostic telephone interview data from young adult Australian twin pairs born between 1964 and 1971 were analyzed. Cox regression models were fitted to interview data from a total of 2708 complete twin pairs (690 MZ female, 485 MZ male, 500 DZ female, 384 DZ male, and 649 DZ female/male pairs). Structural equation models were fitted to determine the extent of residual genetic and environmental influences on AD risk while controlling for effects of sociodemographic and psychiatric predictors on risk. Results. Risk of AD was increased in males, in Roman Catholics, in those reporting a history of major depression, social anxiety problems, and conduct disorder, or (in females only) a history of suicide attempt and childhood sexual abuse; but was decreased in those reporting Baptist, Methodist, or Orthodox religion, in those who reported weekly church attendance, and in university-educated males. After allowing for the effects of sociodemographic and psychiatric predictors, 47 % (95 % CI 28-55) of the residual variance in alcoholism risk was attributable to additive genetic effects, 0 % (95 % CI 0-14) to shared environmental factors, and 53 % (95 % CI 45-63) to non-shared environmental influences. Conclusions. Controlling for other risk factors, substantial residual heritability of AD was observed, suggesting that psychiatric and other risk factors play a minor role in the inheritance of AD.

Cultural and gender influences on age identification

Age identification plays a significant role in young adults" mass, interpersonal, intergenerational, and intercultural communication. This research examines cultural and gender influences on young people's age identity by measuring the social age identity of male and female young adult members of five cultures varying in individualism/collectivism (Laos, Thailand, Spain, Australia, and the U.S.A.). We found cultural influences on age identity to be both unexpected in nature and modest in effect. American and Laotian respondents had similar and nominally higher levels of age identity than Australian, Thai, and Spanish respondents, with all having a markedly different age identities than those of Japanese respondents as reported by other researchers. No direct effect for gender on age identity emerged, though American females were more age identified than all other respondents. Across cultures, the social identity scale was found to be a reasonably adequate measure of age identity.

CONSTRUÇÃO E VALIDAÇÃO DA ESCALA DE ANSIEDADE NO TRABALHO (EAT-35)

Ansiedade é um conceito estudado desde a antiguidade sendo amplamente pesquisado em diversos ramos da ciência. A ansiedade pode ser compreendida como um sinal de alerta, um estado emocional que, por vezes, se torna desagradável, sendo vivenciada por todos os seres humanos. Uma forma de mensurar a ansiedade é por meio de escalas válidas e precisas. Por isso, o objetivo desse estudo foi construir e validar uma escala para avaliação de ansiedade no ambiente de trabalho. Com base em três dimensões da ansiedade contidas na literatura, foi construída a Escala de Ansiedade no Trabalho (EAT-35). Os dados foram coletados a partir das respostas dadas por 220 trabalhadores do Estado de São Paulo, com idade média de 34,27 (DP=9,83) sendo a maioria do sexo feminino (84,5%) e com ensino superior (64,5%). Foram calculadas estatísticas descritivas, análise fatorial e alfa de Cronbach. Os resultados revelaram um modelo de três dimensões da ansiedade e cujas dimensões obtiveram adequadas cargas fatoriais e índices de precisão. Com os resultados produzidos pelas análises deste estudo é possível concluir que a Escala de Ansiedade no Trabalho (EAT-35) pode ser utilizada como uma ferramenta para avaliar a ansiedade no trabalho. Novas pesquisas que realizem a aplicação de análises fatoriais confirmatórias são indicadas com o objetivo de se confirmar os resultados obtidos pelas análises fatoriais exploratórias durante a validação da EAT-35.

INTERVENÇÕES LÚDICAS COM MÃES DE RECÉM-NASCIDOS PRÉ-TERMO HOSPITALIZADOS

Esta pesquisa investiga a influência de intervenções lúdicas na diminuição da ansiedade materna com mães de recém-nascidos pré-termo hospitalizados, em um hospital universitário da Grande São Paulo. São estudadas 30 mães que tiveram parto prematuro, com faixa etária entre 16 e 40 anos e escolaridade até 2º grau, por meio de estudo avaliativo-interventivo-evolutivo. Inicia-se por uma entrevista psicológica semidirigida, com o objetivo de traçar o histórico gestacional, seguida de aplicação da Escala de Ansiedade, Depressão e Irritabilidade IDA, visando identificar o nível de ansiedade materna e do Inventário de Percepção Neonatal IPN-I para verificar a expectativa das mães em relação ao comportamento de choro, alimento e vômito de seus bebês pré-termo. A seguir são efetuadas intervenções grupais lúdicas em 16 encontros, um a cada semana, de 60 minutos, segundo modelo piagetiano, que estimula processos afetivosemocionais e cognitivos. Os dados relativos ao histórico gestacional revelam que 75% das mães encontram-se na segunda gestação e já sofreram aborto ou óbito fetal; têm ida de gestacional média de 31 semanas; peso médio do bebê ao nascer de 1.640g. e tempo de internação médio de 39,93 dias. Na análise do IDA em relação à ansiedade, 75% delas apresentam escore de alta intensidade (11,25), também alto quanto à depressão (10); o escore médio (3,73) da irritabilidade exteriorizada acompanha o da irritabilidade interiorizada (3,23). A correlação entre depressão e ansiedade indica que uma reação emocional segue a outra, não havendo diferença significativa importante entre ambas (p=0,306). O IPN-I comprova que as 30 mães têm expectativas em relação ao próprio filho similares aos bebês em geral, mostrando escores médios de 8,63 e 9,20, respectivamente, confirmados pelo escore 10,0 apontado em 75% da amostra, o que configura uma alta expectativa quanto aos aspectos de sono, alimentação e vômito dos bebês. A análise qualitativa revela que a criação de grupos lúdicos mostra-se favorável, com alta adesão e motivação das mães, favorecendo a diminuição da ansiedade, a adaptação à realidade vivida e a interação mãe-bebê de forma saudável durante a internação. O estudo apresenta a trajetória interventiva de três casos emblemáticos de diferentes níveis de ansiedade, ilustrando esta evolução. Estes dados sugerem que esta modalidade de intervenção caracterize-se como uma medida de prevenção, promoção e preservação da saúde física e psíquica da mãe e do recémnascido prematuro, com repercussões na família e na sociedade.(AU)

ANSIEDADE E CONSUMO DE SUBSTÂNCIAS PSICOATIVAS EM ADOLESCENTES

Os objetivos deste estudo foram: relacionar o consumo de substâncias psicoativas e ansiedade, verificar os níveis de ansiedade e as substâncias psicoativas mais consumidas, e associar consumo de substâncias psicoativas e ansiedade entre estudantes do ensino médio de escolas públicas e particulares da cidade de Maceió. Os estudantes e as instituições que participaram da pesquisa foram selecionados por meio de amostragem não-probabilística por conveniência. Tratou-se de um estudo de delineamento correlacional. A amostra foi de 407 estudantes, com idade de 14 a 18 anos. A pesquisa foi realizada em sete escolas, sendo quatro da rede pública estadual e três da rede particular. Os participantes responderam a um questionário sóciodemográfico; à Escala de Ansiedade do Adolescente (EAA); e a um questionário sobre o consumo de substâncias psicoativas. Foi feita a análise das relações entre consumo de substâncias psicoativas e ansiedade por meio do teste qui-quadrado e exato de Fisher. O álcool foi a substância lícita mais consumida pelos estudantes, enquanto o solvente, a substância ilícita mais consumida por esse grupo. Os participantes apresentaram maior percentual no nível moderado: 28%. Verificou-se diferença estatisticamente significativa entre o consumo de substâncias psicoativas e ansiedade nos adolescentes. O uso na vida de solventes (p=0,037) e energéticos (p=0,023); uso no ano de cigarro (p=0,043) e bebidas alcoólicas (p=0,007); e uso freqüente de bebidas alcoólicas (p<0,001) relacionou-se com ansiedade moderada. Houve diferença significativa entre consumo de substâncias psicoativas e ansiedade nos tipos de escola: Na escola pública, houve relação entre estudantes que disseram consumir cigarro na vida e no ano, e entre os que fizeram uso na vida de solventes e energéticos com ansiedade grave (p=0,022; p=0,003; p=0,010;p=0=0,44, respectivamente); e entre estudantes que afirmaram ter feito consumo freqüente de bebidas alcoólicas com ansiedade moderada (p=0,007). Na escola particular, houve relação entre estudantes consumiram bebidas alcoólicas no ano com ansiedade moderada (p=0,011). A pesquisa verificou a necessidade de se realizarem projetos de prevenção de drogas e promoção de saúde que visem aumentar a reflexão sobre o estilo de vida e ansiedade.

The role of interpersonal functioning in the maintenance of eating psychopathology:a systematic review and testable model

This review aims to systematically evaluate the empirical literature relating to the interpersonal functioning of those with eating disorder psychopathology and presents a preliminary model to help the formulation of patients' problems. Following a thorough literature search, 35 papers were included in this systematic review. The vast majority of studies indicate a strong association between eating psychopathology and certain maladaptive personality traits. The origins of social anxiety and poor social support that have been described as maintaining eating disorders appear to differ according to diagnostic groups. Interpersonal difficulties in people with restrictive behaviors such as anorexia appear to be related to the avoidance of expressing feelings to others and to giving priority to other people's feeling over their own. While interpersonal difficulties in patients with bulimia nervosa appear to be more related to interpersonal distrust and negative interaction and conflict with others. These concepts are presented in a preliminary model of interpersonal functioning in the eating disorders. © 2012 Elsevier Ltd.

Treatment moderation and secondary outcomes: Results from a randomized clinical trial

The present study pursued two objectives in the context of a randomized clinical trial of cognitive-behavioral therapy with parent (CBT/P) and group (GCBT) involvement. The first objective was to examine the variability in treatment outcome. There were three specific aims within the first objective, to evaluate: (1) youth characteristics (age, depressive, and externalizing disorders) as moderators of treatment outcome; (2) the differential outcome of the treatment approaches as a function of youth characteristics; and (3) the relative efficacy of the treatment approaches at each level of the moderators. ^ The second objective was to evaluate the efficacy of anxiety treatments along secondary depressive symptoms and externalizing behaviors. There were five specific aims within the second objective, to evaluate: (1) whether anxiety treatment yields reductions in secondary problems, (2) the efficacy of anxiety treatments in reducing secondary problems as a function of approach and youth characteristics, (3) whether reductions in anxiety symptoms significantly mediate changes in secondary problems, (4) the directionality of change in the hypothesized mediated relations, and (5) whether the hypothesized mediated relations are moderated by treatment approach and youth characteristics. The specific aims were pursued using data collected from 183 youth and their mothers. Research questions were tested using multiple regressions and structural equation modeling. ^ Age, depressive, and externalizing disorders were significant moderators. CBT/P relative to GCBT lowered anxiety more for younger than older youth. GCBT relative to CBT/P lowered anxiety more for older than younger youth. GCBT relative to CBT/P lowered anxiety more for depressed youth than non-depressed youth. GCBT relative to CBT/P lowered anxiety less for externalizing youth than non-externalizing youth. Treatment reduced depressive symptoms and externalizing problem behaviors. Reductions in anxiety mediated changes in depressive symptoms and externalizing problem behaviors. Reversed directionality was found in the relation between social anxiety and depressive symptoms. In CBT/P the direction of change was from depressive to social anxiety. The opposite was true in GCBT. Reductions in social anxiety mediated posttreatment changes in depressive symptoms in GCBT but not CBT/P. The reverse was true at follow-up. Reductions in social anxiety mediated changes in depressive symptoms for girls but not boys.^

Psychologische Inflexibiliteit bij Kinderen: Invloed op de Relatie tussen en de Samenhang met Gepest worden en (Sociale) Angst

Pesten komt voor op alle scholen en kan psychosociale gevolgen hebben zoals (sociale) angst klachten. Op cognitieve gedragstherapie gebaseerde interventies hebben dikwijls de voorkeur bij behandeling van de klachten. De cognitieve vaardigheden van kinderen van 8 tot 11 jaar schieten echter soms tekort om optimaal te kunnen profiteren van cognitieve therapie. Acceptance and Commitment Therapy (ACT) zet in op het vergroten van de psychologische flexibiliteit en is mogelijk een geschikte alternatieve therapie voor kinderen. In de huidige studie werd onderzocht of psychologische inflexibiliteit een onderliggend probleem vormt bij kinderen die angsten hebben of dat gepest worden de kwetsbaarheid voor psychologische inflexibiliteit vergroot. Er werd een positieve samenhang tussen de variabelen psychologische inflexibiliteit, (sociale) angst en gepest worden verwacht. Tevens werd verwacht dat de positieve samenhang tussen gepest worden en (sociale) angst wordt gemodereerd door psychologische inflexibiliteit. Aan 126 kinderen, 66 jongens en 60 meisjes in de leeftijd van 8 tot 11 jaar, afkomstig van basisscholen in Zuid-Nederland werd door de ouders toestemming verleend voor deelname. Eenmalig werden een drietal zelfrapportage vragenlijsten klassikaal aan de kinderen voorgelegd. (Sociale) angst werd gemeten met de Screen for Child Anxiety Related Emotional Disorders-71 (SCARED-71), gepest worden werd gemeten met de Personal Experience Checklist-32 (PECK-32) en psychologische inflexibiliteit werd gemeten met de Avoidance and Fusion Questionnaire for Youth (AFQ-Y). Er werd een positieve samenhang gevonden tussen psychologische inflexibiliteit, (sociale) angst en gepest worden. Een moderatie effect van psychologische inflexibiliteit op de relatie tussen gepest worden en (sociale) angstklachten werd niet gevonden. De huidige studie bevestigt dat psychologische inflexibiliteit een onderliggend probleem vormt voor kinderen met angsten of kinderen die gepest worden. De gevonden verbanden bleken sterker voor angst als algemene trek dan voor sociale angst. Geslacht werd ter controle meegenomen in de analyses, maar verschillen tussen jongens en meisjes werden niet gevonden. ACT vermindert de psychologische inflexibiliteit door het versterken van de psychologische flexibiliteit. De verwachting dat de inzet van ACT de angstklachten en de gevolgen van het gepest worden bij kinderen kan verminderen wordt middels deze studie ondersteund. Verklaringen, beperkingen en relevantie worden besproken evenals suggesties voor verder onderzoek.

Psychological factors associated with self-management among adolescents with Type 1 diabetes: a review

This review aims to synthesise the literature examining the psychosocial variables related to self-management (insulin adherence, non-adherence and administration, blood sugar monitoring, dietary behaviour, exercise behaviour) in adolescents with type 1 diabetes.
A systematic search of three electronic databases was carried out and, after the application of eligibility criteria, 21 articles were assessed for quality prior to data extraction. Numerous psychological factors were found to be associated with self-management; however, correlations were typically small to moderate. The strongest associations were found between social anxiety and diet (among males); greater intrinsic motivation, conscientiousness and diet; and extraversion and exercise.

Propriedades Psicométricas da Figura Complexa de Rey numa Amostra de Adultos da População Portuguesa

A Figura Complexa de Rey-Osterrieth (FCR-O) é um teste de avaliação neuropsicológica realizado em três momentos, que avalia a habilidade visuoespacial, organização percetiva, aptidão visuoespacial construtiva, memória visual, atenção, planificação e função motora. Esta investigação tem como objetivo avaliar as propriedades psicométricas da FCR-O, numa amostra de adultos da população portuguesa. O protocolo de investigação incluiu uma bateria de testes neuropsicológicos: Figura Complexa de Rey (FCR-O), Teste do Desenho do Relógio (TDR), Bateria de Avaliação Frontal (FAB), Rey 15 Item, Matrizes Progressivas de Raven (MPR) e a Escala de Auto-Avaliação da Ansiedade de Zung. A amostra deste estudo abrangeu 453 sujeitos, 192 homens e 261 mulheres, com idades compreendidas entre os 18 e os 90 anos (M = 40,44; DP = 19,78). Os resultados principais deste estudo indicam que a FCR-O é influenciada por diversas variáveis, tais como a idade, sexo, escolaridade, profissão, residência e regiões, apresentando uma validade convergente adequada, com correlações positivas com o TDR, FAB e MPR. A título conclusivo, verificámos que a FCR-O tem caraterísticas psicométricas satisfatórias, especificamente da consistência interna, concordância entre juízes e estabilidade temporal, sugerindo a sua utilização em populações não clínicas. / The Rey–Osterrieth complex figure (ROCF) is a neuropsychological test which was conducted in three phases to assess visuospatial ability, perceptive organization, constructive visuospatial ability, visual memory, attention, planning and motor function. This investigations aims to evaluate the psychometric properties of ROCF, in an adult sample of the Portuguese population. The investigation protocol includes a battery of neuropsychological tests: Complex Figure of Rey, Clock Drawing Test, Frontal Assessment Battery, Rey Item 15, Raven Progressive Matrices and the Zung Self-Rating Anxiety Scale. The sample of this study consisted of 453 subjects, 192 men and 261 women, aged between 18 and 90 years old (M = 40.44, SD = 19.78). The result of this study indicate that the ROCF is influenced by several variables, such as age, sex, education, profession, residence and regions. It also has adequate convergent validity, with positive correlations with TDR, FAB and MPR. In conclusion, we verified that the ROCF is a useful instrument to early detect some neuropsychological deficits. It revealed satisfactory psychometric characteristics, specifically in internal consistency, agreement between judges and temporal stability, suggesting its usage in no clinical populations.

Estudo Preliminar das Propriedades Psicométricas e dos Dados Normativos da Forma Geral das Matrizes Progressivas de Raven numa Amostra da Comunidade

Objetivo: Estudar as propriedades psicométricas e os dados normativos da Forma Geral das Matrizes Progressivas de Raven numa amostra da comunidade da população portuguesa. Método: A amostra é constituída por 697 pessoas (314 homens e 383 mulheres), com idades compreendidas entre os 12 e os 90 anos. Todos os participantes preencheram uma declaração de consentimento informado e uma bateria de testes neuropsicológicos, incluindo a Forma Geral das Matrizes Progressivas de Raven (FG-MPR), Teste de Memória de 15-Item de Rey, Escala de Autoavaliação de Ansiedade de Zung, Bateria de Avaliação Frontal e Figura Complexa de Rey. Resultados: A média na FG-MPR foi de 44,47 (DP = 10,78). Os resultados demonstraram que todas as variáveis sociodemográficas (idade, sexo, escolaridade, profissão, regiões e tipologia de áreas urbanas), exceto o estado civil, apresentaram ter influência significativa nas pontuações da FG-MPR. A confiabilidade e a estabilidade temporal da FG-MPR revelaram-se adequadas. A análise fatorial exploratória e confirmatória mostrou que o modelo para um fator não é adequado. Um modelo a quatro fatores continua a não ser adequado. Conclusão: Os dados do presente estudo sugerem que se trata de um instrumento com potencialidades na sua utilização junto da população portuguesa. / Purpose: To study the psychometric properties and date normative of the Raven’s Standard Progressive Matrices in a Portuguese community sample. Method: The sample consists of 697 people (314 men and 383 women), aged between 12 and 90 years. All participants filled an informed consent form and a battery of neuropsychological tests, which included Raven’s Standard Progressive Matrices (RSPM), Rey 15-Item Memory Test, Zung Self-Rating Anxiety Scale, Frontal Assessment Battery, and Rey Complex Figure Test. Results: The average in RSPM was 44.47 (SD = 10.78). The results showed that all of the sociodemographic variables (age, sex, education, profession, region, and typology of urban areas), with the exception of civil status, showed significant influence on RSPM scores. The reliability and temporal stability of RSPM were adequate. Exploratory and Confirmatory factor analysis showed that the model is not better explained by one factor. A two-factor model was not also suitable. Conclusion: The data from this study suggest that it is an instrument with potential for its use among the Portuguese population.

Increased frequency of the autism broader phenotype in mothers transmitting etiological CNVs to sons affected by Autism Spectrum Disorder (ASD)

Autism Spectrum Disorder (ASD) is a frequent and complex neurodevelopmental disorder, characterized by impairments in social communication and repetitive behaviors and with a high male to female ratio: ~4:1. Genetic factors, including rare Copy Number Variants (CNVs), have a substantial impact in ASD risk1, and are associated with specific phenotypic manifestations2. Recent studies reported that rare inherited CNVs are enriched in mothers of ASD children compared with mothers of controls and are preferentially transmitted from mothers to ASD children suggesting a sex bias in CNV transmission; further, the imbalanced transmission of small pathogenic CNVs from unaffected mothers to their sons with ASD has been described3,4. An increased prevalence of autism-like personality traits is found in unaffected relatives of ASD children, suggesting a genetic liability of a broader autism phenotype (BAP)5. The BAP in parents of autistic children can be assessed by the Social Responsiveness Scale (SRS)6 and Broad Autism Phenotype Questionnaire (BAPQ)7 reports. The SRS is 65-item questionnaire to identify sub-clinical social impairments and interpersonal behaviour in individuals. The BAPQ is a 36-item questionnaire measures social aloofness, rigid personality, and pragmatic language deficits in both parents and children.