Genetic variation in GABRB3 is associated with Asperger syndrome and multiple endophenotypes relevant to autism.

BACKGROUND: Autism spectrum conditions (ASC) are associated with deficits in social interaction and communication, alongside repetitive, restricted, and stereotyped behavior. ASC is highly heritable. The gamma-aminobutyric acid (GABA)-ergic system has been associated consistently with atypicalities in autism, in both genetic association and expression studies. A key component of the GABA-ergic system is encoded by the GABRB3 gene, which has been previously implicated both in ASC and in individual differences in empathy. METHODS: In this study, 45 genotyped single nucleotide polymorphisms (SNPs) within GABRB3 were tested for association with Asperger syndrome (AS), and related quantitative traits measured through the following tests: the Empathy Quotient (EQ), the Autism Spectrum Quotient (AQ), the Systemizing Quotient-Revised (SQ-R), the Embedded Figures Test (EFT), the Reading the Mind in the Eyes Test (RMET), and the Mental Rotation Test (MRT). Two-loci, three-loci, four-loci haplotype analyses, and one seven-loci haplotype analysis were also performed in the AS case--control sample. RESULTS: Three SNPs (rs7180158, rs7165604, rs12593579) were significantly associated with AS, and two SNPs (rs9806546, rs11636966) were significantly associated with EQ. Two SNP-SNP pairs, rs12438141-rs1035751 and rs12438141-rs7179514, showed significant association with variation in the EFT scores. One SNP-SNP pair, rs7174437-rs1863455, was significantly associated with variation in the MRT scores. Additionally, a few haplotypes, including a 19 kb genomic region that formed a linkage disequilibrium (LD) block in our sample and contained several nominally significant SNPs, were found to be significantly associated with AS. CONCLUSION: The current study confirms the role of GABRB3 as an important candidate gene in both ASC and normative variation in related endophenotypes.

Prevalence of beta-hemolytic Streptococcus in children with special health care needs

Pharyngotonsillitis by beta-hemolytic Streptococcus mostly affects children and imunocompromissed, being Streptococcus pyogenes (Group A) the most common agent in bacterial pharyngotonsillitis. Aim: This work targeted the research of beta-hemolytic Streptococcus Group-A (SBHGA) and No-A (SBHGNA) in the oropharynx of individuals with special health needs from the APAE (Maceio-AL). Method: A prospective study with oropharynx samples from patients with Down syndrome and other mental disorders (test) and students from a private school (control) aged 5-15 years. Cultures in blood agar (5%) were identified through Gram/catalase tests and bacitracin/trirnethoprim-sulfamethoxazole disk diffusion method, applying the chi-squared statistical analysis. Results: A total of 222 bacterial colonies were isolated in 74 individuals from APAE and 65 in the control group. In the test group, previous episodes of pharyngotonsillitis were reported by 36.49% (27/74) and 9.46% (7/74) were diagnosed with symptoms and/or signs suggestive of oropharynx infection. No positive sample of S. pyogenes was confirmed at APAE, being all samples classified as SBHGNA, with 5 SBHGA in the control group. Conclusion: The early identification of beta-hemolytic Streptococcus is important for the fast treatment of pharyngotonsillitis and the absence of S. pyogenes avoid future suppurative or not-suppurative sequels in the group from APAE.

Qualidades psicométricas do Questionário de Capacidades e Dificuldades: revisão da literatura

O Questionário de Capacidades e Dificuldades (Strengths and Difficulties Questionnaire) é um instrumento amplamente pesquisado, de uso livre, que visa avaliar a saúde mental de crianças e adolescentes. Dada a relevância do uso de instrumentos aferidos para a avaliação de indicadores de saúde mental, este trabalho objetivou analisar a produção científica relacionada às propriedades psicométricas do Questionário. Procedeu-se a um levantamento bibliográfico de estudos indexados nas bases de dados MedLine, PsycINFO e Lilacs, a partir da publicação original do instrumento, abrangendo o período de 1997 a 2010, utilizando-se as seguintes palavraschave: Strengths and Difficulties Questionnaire and psychometric properties; e Strengths and Difficulties Questionnaire and validity or reliability. Foram selecionados e analisados 51 estudos psicométricos. Os resultados indicaram índices positivos de validade e fidedignidade em 21 países, incluindo o Brasil, caracterizando seu alcance transcultural e sua aplicabilidade na área de saúde mental infanto-juvenil .

Differential effects of captopril and nitrates on muscle sympathetic nerve activity in volunteers

BACKGROUND The sympathetic nervous system (SNS) is an important regulator of cardiovascular function. Activation of SNS plays an important role in the pathophysiology and the prognosis of cardiovascular diseases such as heart failure, acute coronary syndromes, arrhythmia, and possibly hypertension. Vasodilators such as adenosine and sodium nitroprusside are known to activate SNS via baroreflex mechanisms. Because vasodilators are widely used in the treatment of patients with cardiovascular diseases, the aim of the present study was to assess the influence of clinically used dosages of isosorbide dinitrate and captopril on sympathetic nerve activity at rest and during stimulatory maneuvers. METHODS AND RESULTS Twenty-eight healthy volunteers were included in this double-blind placebo-controlled study, and muscle sympathetic nerve activity (MSA; with microelectrodes in the peroneal nerve), blood pressure, heart rate, and neurohumoral parameters were measured before and 90 minutes after the oral administration of 40 mg isosorbide dinitrate or 6.25 mg captopril. Furthermore, a 3-minute mental stress test and a cold pressor test were performed before and 90 minutes after drug administration. Resting MSA did not change after captopril and decreased compared with placebo (P < .05 versus placebo), whereas isosorbide dinitrate led to a marked increase in MSA (P < .05). Systolic blood pressure was reduced by isosorbide dinitrate (P < .05), whereas captopril decreased diastolic blood pressure (P < .05). The increases in MSA, blood pressure, and heart rate during mental stress were comparable before and after drug administration regardless of the medication. During cold pressor test, MSA and systolic and diastolic blood pressures increased to the same degree independent of treatment, but after isosorbide dinitrate, the increase in MSA seemed to be less pronounced. Heart rate did not change during cold stimulation. Plasma renin activity increased after captopril and isosorbide dinitrate (P < .05), whereas placebo had no effect. Endothelin-1 increased after placebo and isosorbide dinitrate (P < .05) but not after captopril. CONCLUSIONS Thus, captopril suppressed MSA despite lowering of diastolic blood pressure but allowed normal adaptation of the SNS during mental or physical stress. In contrast, the nitrate strongly activated the SNS under baseline conditions. These findings demonstrate that vasodilators differentially interact with the SNS, which could be of importance in therapeutic strategies for the treatment of patients with cardiovascular diseases.

Ethnic disparity in defensive coping endothelial responses: The SABPA study

OBJECTIVES Defensive coping (DefS) in Blacks has been associated with greater cardiovascular risk than in their White counterparts. We examined associations between endothelial function mental stress responses and markers of vascular structure in a bi-ethnic cohort. METHODS We examined vascular function and structure in 368 Black (43.84±8.31years) and White Africans (44.78±10.90years). Fasting blood samples, 24h blood pressure, left carotid intima-media thickness of the far wall (L-CIMTf), and left carotid cross-sectional wall area (L-CSWA) values were obtained. von Willebrand factor (VWF), endothelin-1 (ET-1) and nitric oxide metabolite (NOx) responses to the Stroop mental stress test were calculated to assess endothelial function. DefS was assessed using the Coping Strategy Indicator questionnaire. Interaction between main effects was demonstrated for 283 participants with DefS scores above the mean of 26 for L-CIMTf. RESULTS Blunted stress responses for VWF (men 16.71% vs. 51.10%; women 0.85% vs. 42.09%, respectively) and NOx (men -64.52% vs. 74.89%; women -76.16% vs. 113.29%, respectively) were evident in the DefS Blacks compared to the DefS Whites (p<0.001). ET-1 increased more in Blacks (men 150% and women 227%, p<0.001) compared to the Whites (men 61.25% and women 35.49%, p<0.001). Ambulatory pulse pressure, but not endothelial function markers, contributed to L-CIMTf (ΔR(2)=0.11 p<0.001), and L-CSWA (ΔR(2)=0.08, p<0.001) in DefS African men but not in any other group. CONCLUSIONS Blunted stress-induced NOx and VWF responses and augmented ET-1 responses in DefS Blacks indicate endothelial dysfunction. DefS may facilitate disturbed endothelial responses and enforce vascular remodelling via compensatory increases in pulse pressure in Black men. These observations may indicate an increased risk of cardiovascular incidents via functional and structural changes of the vasculature in DefS Blacks.

Screening for posttraumatic stress disorder in children after accidental injury

OBJECTIVE. Children who have experienced an accidental injury are at increased risk of developing posttraumatic stress disorder. It is, therefore, essential that strategies are developed to aid in the early identification of children at risk of developing posttraumatic stress disorder symptomatology after an accident. The aim of this study was to examine the ability of the Child Trauma Screening Questionnaire to predict children at risk of developing distressing posttraumatic stress disorder symptoms 1 and 6 months after a traumatic accident. METHODS. Participants were 135 children (84 boys and 51 girls; with their parents) who were admitted to the hospital after a variety of accidents, including car- and bike-related accidents, falls, burns, dog attacks, and sporting injuries. The children completed the Child Trauma Screening Questionnaire and the Children's Impact of Events Scale within 2 weeks of the accident, and the Anxiety Disorders Interview Schedule for Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Child Version, was conducted with the parents to assess full and subsyndromal posttraumatic stress disorder in their child 1 and 6 months after the accident. RESULTS. Analyses of the results revealed that the Child Trauma Screening Questionnaire correctly identified 82% of children who demonstrated distressing posttraumatic stress disorder symptoms (9% of sample) 6 months after the accident. The Child Trauma Screening Questionnaire was also able to correctly screen out 74% of children who did not demonstrate such symptoms. Furthermore, the Child Trauma Screening Questionnaire outperformed the Children's Impact of Events Scale. CONCLUSIONS. The Child Trauma Screening Questionnaire is a quick, cost-effective and valid self-report screening instrument that could be incorporated in a hospital setting to aid in the prevention of childhood posttraumatic stress disorder after accidental trauma.

Análisis crítico del test de habilidad mental : forma B.

Corregir las deficiencias que los diferentes ítems de la prueba test de habilidades, forma B, puedan presentar y adaptarlo y/o baremarlo para una muestra española masculina. Para la verificación de la forma original del test escoge una muestra aleatoria de 300 sujetos varones del curso 1971-72. Para la aplicación de la prueba piloto corregida se usan 100 sujetos del curso acdémico 1974-75 de quinto, sexto y séptimo de EGB. Para la aplicación y la forma definitiva realizada, utiliza una muestra de 300 sujetos de quinto, sexto y séptimo de EGB, de 1977-78. Expone los conocimientos necesarios sobre la inteligencia y su medida y presenta el test original, forma B. Realiza un estudio experimental en varias muestras del test original: fiabilidad, baremación, etc. Realiza un juicio crítico estadístico de la dificultad de los ítems originales y de la discriminación y redacta ítems nuevos. Estudia estos ítems con 100 sujetos y crea una forma definitiva del mismo. Experimenta y barema el nuevo test. Test de habilidad mental, forma B, utilizado por el Instituto Pedagógico Saint-Georges de la Universidad de Canadá y adaptado a España por alumnos del Seminario de Pedagogía San Pío X de Salamanca. Consta de 75 ítems aplicables desde cuarto de EGB hasta COU, ya sea individual o colectivamente. Pruebas de significación estadística de medias, índices de fiabilidad, validez, análisis de ítems y baremaciones. La significación y fiabilidad del test es significativa al 5 por ciento. El test revisado consta de mayor fiabilidad que el original. Respecto al control de tiempo, hay continuidad entre los resultados de los 20 primeros minutos y los obtenidos sin control de tiempo. Respecto a la baremación, las medias de la prueba revisada son superiores a las del original, siendo la desviación típica inferior. Respecto a la validez externa, los índices de validez de capacidad intelectual verbal son aceptables al igual que los de capacidad numérica, si bien estos son algo inferiores. El test revisado de habilidad mental forma B en la población española masculina posee mayor fiabilidad y validez externa que la forma anterior.

Afectividad familiar del deficiente mental : estudio a través del Test del dibujo de la familia.

Estudiar la afectividad en el deficiente mental mediante el análisis del dibujo de la familia. 53 sujetos deficientes mentales, cuyas edades oscilan entre los 5 y los 20 años, y sus cocientes intelectuales entre 36 y 85. Explica el sentimiento en la vida del hombre, la relación afectiva del niño con su familia y los problemas familiares que presenta el niño deficiente, después realiza un trabajo experimental, para descubrir a través del dibujo, la afectividad del deficiente mental. Test del dibujo de la familia. El dibujo de la familia permite al niño reflejar tendencias que se hallan reprimidas en el inconsciente. Y a través de esto podemos observar los verdaderos sentimientos que profesa a los suyos. Después del dibujo es imprescindible comparar la familia representada por el niño con la verdadera familia. 1) Hay mayor tendencia a valorizar al padre del sexo contrario y desvalorizar al padre del mismo sexo. Esta actitud es especialmente frecuente entre los varones. 2) El deseo de separación de los padres, expresado en el dibujo, es más frecuente entre los varones. 3) La eliminación y desvalorización de los padres aparece con más frecuencia en los sujetos de 6 a 10 años y de 13 a 15 años. 4) La desvalorización del padre de distinto sexo y valorización del padre del mismo se encuentra en los de 16 a 20 años. 5) Respecto a los sujetos que se sitúan en el dibujo separados de sus padres, el mayor número de casos se halla entre los 10 y 13 años. 6) Las etapas de inhibición se hallan en la etapa de 10 a 13 años y también de 16 a 20 años. 7) Las manifestaciones de desvalorización y eliminación del padre del mismo sexo se encuentran con mayor frecuencia en los sujetos con un cociente intelectual comprendido entre 52 y 67. 8) Los que poseen un cociente intelectual de 68 a 85 y de 36 a 51 presentan una mayor tendencia a dibujar en primer lugar al padre de distinto sexo. En cambio los que tienen un cociente intelectual entre 52 y 67 sitúan, con más frecuencia, al padre del mismo sexo en primer lugar. 9) La manifestación de relación edípica es más frecuente en los que tienen un cociente intelectual de 52 a 67, 10) Las actitudes que expresan inhibición se dan con más frecuencia entre los sujetos que tiene un cociente intelectual entre 36 y 51. 1) Las manifestaciones de desvalorización de sí mismo son más frecuentes entre las niñas. 2) Respecto al cociente intelectual, hay mayor tendencia a desvalorizarse en los sujetos que pertenecen al nivel mental más bajo, y en cambio, los sujetos que pertenecen al nivel más alto, presentan más casos de valorización. 3) En cuanto a la edad cronológica, es de los 16 a los 20 años donde hay mayor número de casos de valorización de sí mismo.

Algunos problemas de los test de inteligencia en la evaluación de los alumnos-as con retraso mental : el caso del WISC-R.

Resumen tomado de la revista

Psicomotricidad y deficiencia mental : contribución a su estudio mediante los test de L. Bender y A. Rey.

Comprobar si los test miden los mismos factores. Comprobar si existe correlación entre los resultados obtenidos por la aplicación del B. G y del Rey y los CI de los respectivos individuos. Comprobar si se puede obtener un diagnóstico fiable de la deficiencia mental. 30 niños con edades comprendidas entre 9 y 13 años comprendidos en 'deficientes ligeros y borderlines'. Los CI fueron obtenidos mediante la aplicación de una bateria de test compuesta por: Ballard, TEI, García Yagüe, Ampe Factorial y Ampe Elemental, Raven y en algunos casos, el Terman. Test de Copia de una figura compleja de A. Rey y Test Gestáltico Visomotor de L. Bender y el Copia de una figura compleja de A. Rey miden los mismos factores, ya que la correlación no es lo suficientemente alta como para poder afirmar que miden los mismos factores y sólo los mismos factores. Existe correlación entre el test Guestáltico Visomotor de L. Bender y los CI de los sujetos, ya que el resultado nos indica una correlación moderada y que la relación entre ambas variables es considerable. No ocurre así con el test de Copia de una figura compleja de A. Rey y los respectivos CI de los sujetos, ya que el resultado de la correlación y una casi insignificante relación entre ambas variables. Tanto el test Guestáltico Visomotor de Bender, como el de Copia de una figura compleja de Rey, no nos sirven para un diagnóstico fiable de la deficiencia mental, si bien el B.G puede servirnos aunque no sea muy fiable, según deducimos del resultado de la correlación.

Relaciones interpersonales del deficiente mental test sociométrico.

Estudiar la personalidad del deficiente en cuyo desarrollo aparte del déficit intelectual tiene una gran importancia el medio ambiente que le rodea y estudiar las actitudes y comportamientos que la sociedad tiene ante el deficiente mental. 8 chicos de edades comprendidas entre 11 y 17 años. test sociométrico. gráficas y estadística inferencial. El marco de relaciones del deficiente mental, no es el resultado de una situación previa, caracterizada por el déficit intelectual, sino que sufre, como otros seres humanos, los efectos de muchas circunstancias del medio ambiente y de sus vivencias. De lo que antecede resulta, que toda una parte de los rasgos de personalidad que frecuentemente se atribuyen a los deficientes mentales, no son rasgos primarios fijados, sino precisamente el resultado de un desarrollo en el que, además de las facultdes del sujeto, desempeñan su papel en mucho mayor grado la capacidad estimuladora del medio ambiente, junto con las posibles reacciones inadecuadas de este. El problema principal del deficiente no es tanto su desarrollo de la inteligencia, como la formación de la personalidad, ya que son las conductas, en una mayor oarte, lo que condiciona las relaciones. En primer lugar le corresponde a la familia lograr una integración familiar satisfactoria. En segundo lugar le corresponde a la sociedad, dotarlo de los medios necesarios para hacerlo lo más independiente y autónomo posible, a fin de que su inserción social y profesional sea satisfactoria. El test sociométrico sirven a su vez al educador para una mejor actuación educativa en el grupo.

(PDF, 406 KB) On L3 acquisition and phonological permeability: a new test case for debates on the mental representation of non-native phonological systems

The goal of this article is to make an epistemological and theoretical contribution to the nascent field of third language (L3) acquisition and show how examining L3 development can offer a unique view into longstanding debates within L2 acquisition theory. We offer the Phonological Permeability Hypothesis (PPH), which maintains that examining the development of an L3/Ln phonological system and its effects on a previously acquired L2 phonological system can inform contemporary debates regarding the mental constitution of postcritical period adult phonological acquisition. We discuss the predictions and functional significance of the PPH for adult SLA and multilingualism studies, detailing a methodology that examines the effects of acquiring Brazilian Portuguese on the Spanish phonological systems learned before and after the so-called critical period (i.e., comparing simultaneous versus successive adult English-Spanish bilinguals learning Brazilian Portuguese as an L3).

A cost-effectiveness methodology for community mental health centers : development and pilot test /

Mode of access: Internet.

Is there something quantum-like about the human mental lexicon?

Following an early claim by Nelson & McEvoy suggesting that word associations can display `spooky action at a distance behaviour', a serious investigation of the potentially quantum nature of such associations is currently underway. In this paper quantum theory is proposed as a framework suitable for modelling the mental lexicon, specifically the results obtained from both intralist and extralist word association experiments. Some initial models exploring this hypothesis are discussed, and they appear to be capable of substantial agreement with pre-existing experimental data. The paper concludes with a discussion of some experiments that will be performed in order to test these models.