Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects

Dyslexia (or reading disability) and specific language impairment (or SLI) are common childhood disorders that show considerable co-morbidity and diagnostic overlaps and have been suggested to share some genetic aetiology. Recently, genetic risk variants have been identified for SLI and dyslexia enabling the direct evaluation of possible shared genetic influences between these disorders. In this study we investigate the role of variants in these genes (namely MRPL19/C20RF3, ROBO1, DCDC2, KIAA0319, DYX1C1, CNTNAP2, ATP2C2 and CMIP) in the aetiology of SLI and dyslexia. We perform case–control and quantitative association analyses using measures of oral and written language skills in samples of SLI and dyslexic families and cases. We replicate association between KIAA0319 and DCDC2 and dyslexia and provide evidence to support a role for KIAA0319 in oral language ability. In addition, we find association between reading-related measures and variants in CNTNAP2 and CMIP in the SLI families.

Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort

Dyslexia is one of the most common childhood disorders with a prevalence of around 5-10% in school-age children. Although an important genetic component is known to have a role in the aetiology of dyslexia, we are far from understanding the molecular mechanisms leading to the disorder. Several candidate genes have been implicated in dyslexia, including DYX1C1, DCDC2, KIAA0319, and the MRPL19/C2ORF3 locus, each with reports of both positive and no replications. We generated a European cross-linguistic sample of school-age children-the NeuroDys cohort-that includes more than 900 individuals with dyslexia, sampled with homogenous inclusion criteria across eight European countries, and a comparable number of controls. Here, we describe association analysis of the dyslexia candidate genes/locus in the NeuroDys cohort. We performed both case-control and quantitative association analyses of single markers and haplotypes previously reported to be dyslexia-associated. Although we observed association signals in samples from single countries, we did not find any marker or haplotype that was significantly associated with either case-control status or quantitative measurements of word-reading or spelling in the meta-analysis of all eight countries combined. Like in other neurocognitive disorders, our findings underline the need for larger sample sizes to validate possibly weak genetic effects. © 2014 Macmillan Publishers Limited All rights reserved.

Health of entrepreneurs versus employees in a national representative sample

Prior research has found entrepreneurs to experience significantly higher job control and job demands compared with employees. This suggests that entrepreneurs have so-called active jobs and thus may benefit from positive health consequences. The present research compared entrepreneurs' health with employees' health in a national representative sample with regard to the International Statistical Classification of Diseases and Related Health Problems, 10th revision (ICD-10) diagnoses of somatic diseases, the Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV) diagnoses of mental disorders, blood pressure, well-being (life-satisfaction) as well as behavioural health indicators (sick days, physician visits). Entrepreneurs showed significantly lower overall somatic and mental morbidity, lower blood pressure, lower prevalence rates of hypertension, and somatoform disorders, as well as higher well-being and more favourable behavioural health indicators. The results are discussed with regard to the active job hypothesis and recommendations for future research are provided.

Neuronal network dynamics during epileptogenesis in the medial temporal lobe

Epilepsy is one of the most common neurological disorders, a large fraction of which is resistant to pharmacotherapy. In this light, understanding the mechanisms of epilepsy and its intractable forms in particular could create new targets for pharmacotherapeutic intervention. The current project explores the dynamic changes in neuronal network function in the chronic temporal lobe epilepsy (TLE) in rat and human brain in vitro. I focused on the process of establishment of epilepsy (epileptogenesis) in the temporal lobe. Rhythmic behaviour of the hippocampal neuronal networks in healthy animals was explored using spontaneous oscillations in the gamma frequency band (SγO). The use of an improved brain slice preparation technique resulted in the natural occurence (in the absence of pharmacological stimulation) of rhythmic activity, which was then pharmacologically characterised and compared to other models of gamma oscillations (KA- and CCh-induced oscillations) using local field potential recording technique. The results showed that SγO differed from pharmacologically driven models, suggesting higher physiological relevance of SγO. Network activity was also explored in the medial entorhinal cortex (mEC), where spontaneous slow wave oscillations (SWO) were detected. To investigate the course of chronic TLE establishment, a refined Li-pilocarpine-based model of epilepsy (RISE) was developed. The model significantly reduced animal mortality and demonstrated reduced intensity, yet high morbidy with almost 70% mean success rate of developing spontaneous recurrent seizures. We used SγO to characterize changes in the hippocampal neuronal networks throughout the epileptogenesis. The results showed that the network remained largely intact, demonstrating the subtle nature of the RISE model. Despite this, a reduction in network activity was detected during the so-called latent (no seizure) period, which was hypothesized to occur due to network fragmentation and an abnormal function of kainate receptors (KAr). We therefore explored the function of KAr by challenging SγO with kainic acid (KA). The results demonstrated a remarkable decrease in KAr response during the latent period, suggesting KAr dysfunction or altered expression, which will be further investigated using a variety of electrophysiological and immunocytochemical methods. The entorhinal cortex, together with the hippocampus, is known to play an important role in the TLE. Considering this, we investigated neuronal network function of the mEC during epileptogenesis using SWO. The results demonstrated a striking difference in AMPAr function, with possible receptor upregulation or abnormal composition in the early development of epilepsy. Alterations in receptor function inevitably lead to changes in the network function, which may play an important role in the development of epilepsy. Preliminary investigations were made using slices of human brain tissue taken following surgery for intratctable epilepsy. Initial results showed that oscillogenesis could be induced in human brain slices and that such network activity was pharmacologically similar to that observed in rodent brain. Overall, our findings suggest that excitatory glutamatergic transmission is heavily involved in the process of epileptogenesis. Together with other types of receptors, KAr and AMPAr contribute to epilepsy establishment and may be the key to uncovering its mechanism.

Estratégias de cuidados por familiares de portadores de transtornos mentais severos residentes na zona rural do alto sertão paraibano

In the current configuration of the Brazilian Psychiatric Reform, family plays a key role in mental health care: shared responsibility and active participation in the process of rehabilitation of people with severe mental disorders. It´s considered that the family member who cares can help users in their daily tasks and articulating trajectories, networks and ways to potentiate social connections. This research was motivaded by interest in the subject and by the lack of research and studies about this reality in rural areas. This study aimed to identify ways of mental health care by relatives of severe mental disorder patients living in rural zone located at sertão of Paraiba. Methodologically was made a work with qualitative research structured in two moments. In the first one, was held a Documentary Research in CAPS II in order to identify: a) users living in rural that had a history of at least one psychiatric hospitalization, b) users who no longer use the reference service (CAPS II) for at least one year. The second stage consisted by home visits and semi-structured interviews with eleven families in rural areas. Results pointed out a profile composed by 56 users: 56 women and 26 men aged between 50 and 64 years, unmarried, without study, farmers and housewives, living six miles from CAPS II and carriers with severe mental disorders. Strategies and resources used by the families for mental health care were: religion, work, medication and help from relatives, neighbors and community. Factors related to non-use of substitute services were lack of internment in CAPS II and lack of money and transportation. The hospital, the house arrest, the police aid and religion were strategies used by family members as support to psychiatric crises. The data pointed to non-solving of care offered by psychosocial support network and the importance of redirecting practices aligned to the asylum model in favor of psychosocial strategies that aimed at rehabilitation and community participation in mental health care

Efeito do topiramato sobre o craving em usuários de crack

The study aims to analyze the effects of topiramato on the craving of crack users. It is an open crossover clinical trial involving users from the Psychosocial Care Center for Alcohol and Drugs (CAPSad) in city of Parnamirim, RN, approved by the CEP CAAE: 38710614.1.0000.5537, respecting the norms of the resolution n. 466/2012/CNS. The study produced preliminary two scientific papers: a theoretical essay and an integrative review, as a way of seeking the state of art. The first paper was based in the theoretical framework of Hinds, Chaves and Cypress, which focuses different contexts, from the issues of individual use to the coping policies in Brazil, highlighting that the situation and the complexity of the phenome requires coping strategies for the full attention to the user, family and society. As a result of the integrative review, among the 902 retrieved records, eight of them presented therapeutic schemes with positive effects for the craving of cocaine. They used nine different drugs. It is important to spot out that there was no result for the craving of crack. The data collection was conducted from December 2014 to July 2015 and has as sample predominantly single males. The sample was composed of 30 subjects who met the inclusion criteria: adults, age from 18 years, diagnosis of the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) for cocaine/crack; cognitive capacity preserved; attendance to the service, participated at least three visits in the 12 months prior to data collection; and accepted to be monitored in the proposed treatment. Data was analyzed using descriptive statistics from the Statistical Package of Support for Social Sciences (SPSS) on the instruments: 1) Alcohol, Smoking, and Substance Involvement Screening Test (ASSIST), pointing out, among other results, that only 14% used crack/cocaine weekly during treatment, while 83% used daily or weekly after the washout period; 2) Barratt Impulsiveness Scale, with an average of 80.23 and 77.47 with and without drug treatment, respectively. An analysis from the Student t test show no significant differences in impulsivity with or without the drug; and 3) Cocaine-Craving Questionnaire-Brief (CCK-B), indicating that the number of users with craving intensity level is significantly higher without drug treatment (86%) than with treatment (33%). The analysis between craving and level of impulsivity showed that there is a low correlation (Pearson) between these two variables during treatment and after the washout, demonstrating that impulsivity has low influence on the outcome of drug therapy. As conclusion, it was noted that the topiramate produces positive effect on reducing the craving for crack users and their use is a relevant strategy for efficacy in the treatment of crack users.

Efeito do topiramato sobre o craving em usuários de crack

The study aims to analyze the effects of topiramato on the craving of crack users. It is an open crossover clinical trial involving users from the Psychosocial Care Center for Alcohol and Drugs (CAPSad) in city of Parnamirim, RN, approved by the CEP CAAE: 38710614.1.0000.5537, respecting the norms of the resolution n. 466/2012/CNS. The study produced preliminary two scientific papers: a theoretical essay and an integrative review, as a way of seeking the state of art. The first paper was based in the theoretical framework of Hinds, Chaves and Cypress, which focuses different contexts, from the issues of individual use to the coping policies in Brazil, highlighting that the situation and the complexity of the phenome requires coping strategies for the full attention to the user, family and society. As a result of the integrative review, among the 902 retrieved records, eight of them presented therapeutic schemes with positive effects for the craving of cocaine. They used nine different drugs. It is important to spot out that there was no result for the craving of crack. The data collection was conducted from December 2014 to July 2015 and has as sample predominantly single males. The sample was composed of 30 subjects who met the inclusion criteria: adults, age from 18 years, diagnosis of the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) for cocaine/crack; cognitive capacity preserved; attendance to the service, participated at least three visits in the 12 months prior to data collection; and accepted to be monitored in the proposed treatment. Data was analyzed using descriptive statistics from the Statistical Package of Support for Social Sciences (SPSS) on the instruments: 1) Alcohol, Smoking, and Substance Involvement Screening Test (ASSIST), pointing out, among other results, that only 14% used crack/cocaine weekly during treatment, while 83% used daily or weekly after the washout period; 2) Barratt Impulsiveness Scale, with an average of 80.23 and 77.47 with and without drug treatment, respectively. An analysis from the Student t test show no significant differences in impulsivity with or without the drug; and 3) Cocaine-Craving Questionnaire-Brief (CCK-B), indicating that the number of users with craving intensity level is significantly higher without drug treatment (86%) than with treatment (33%). The analysis between craving and level of impulsivity showed that there is a low correlation (Pearson) between these two variables during treatment and after the washout, demonstrating that impulsivity has low influence on the outcome of drug therapy. As conclusion, it was noted that the topiramate produces positive effect on reducing the craving for crack users and their use is a relevant strategy for efficacy in the treatment of crack users.

PERSONALIDADE, ESTILOS PARENTAIS E COGNIÇÃO EM MENINOS VÍTIMAS DE ABUSO SEXUAL

Há um consenso na literatura de que a vivência do abuso sexual na infância ocasiona uma série de consequências, tanto físicas quanto psicológicas, às vítimas. O cenário de violência contra crianças e adolescentes está cada vez mais frequente na sociedade contemporânea, tornando-se um problema de saúde pública, de modo a ser necessário um olhar mais atento dos profissionais e elaboração de políticas públicas tanto para a prevenção dos casos como para o tratamento dos problemas deles decorrentes. Nas crianças, há uma associação do aumento de problemas comportamentais e psicológicos, que podem se estender até o período da idade adulta. Outros estudos enfatizam alterações em áreas cerebrais e as relacionam com o surgimento de transtornos mentais na população de crianças vítimas de violência sexual, dentre outros tipos de violência. O objetivo deste trabalho foi verificar a presença de traços de personalidade, os estilos parentais desenvolvidos e o desempenho cognitivo, especificamente as funções executivas, em meninos com histórico de abuso sexual. Foram avaliadas 62 crianças e adolescentes (32 com histórico de abuso sexual e 30 sem), sendo que no grupo de abuso a idade média dos integrantes é de 11,7 anos de idade e seus genitores majoritariamente divorciados, diferentemente do grupo controle, no qual os genitores são, na maior parte, casados. O método constou de questionário sociodemográfico, testes neuropsicológicos que avaliam as funções executivas (Wisconsin Card Sortint Test, Figuras de Ray e Escala de Inteligência Wechsler para Crianças - Terceira Edição (WISC-III)- Semelhanças, Arranjo de Figuras, Compreensão, Cubos, Dígitos e Vocabulário), Questionário de Personalidade para Crianças e Adolescentes (EPQ-J) e Inventário de Estilos Parentais (IEP). Não houve resultados significativos entre o abuso e as funções executivas, tanto nos subtestes dos Escala de Inteligência Wechsler para Crianças - Terceira Edição (WISC-III) quanto no do Wisconsin; porém o grupo apresentou dados significativamente menores na memória do Figuras Complexas de Rey. Com relação ao EPQ-J, os resultados demonstraram maiores índices de neuroticismo, os quais podem ser associados com sintomas de depressão, e apresentaram menores índices em extroversão, trazendo possíveis dificuldades nas relações sociais. Com relação aos estilos parentais, o grupo apresentou dificuldades e prejuízos nas percepções sobre os genitores, especialmente com relação ao genitor, que é o maior abusador estatisticamente. Os dados mostraram uma correlação entre neuroticismo e vocabulário, estilos parentais e vocabulário, e neuroticismo e estilos parentais. Observou-se a importância de maiores estudos com o público masculino, para que possam ser elucidadas, de forma mais abrangente, as questões de abuso sexual e suas interferências nos aspectos neuropsicológicos, estilos parentais e traços de personalidade, visto que a maior parte dos estudos é relacionada ao público feminino. É necessário o desenvolvimento de políticas públicas para o atendimento específico do público masculino que sofre abuso, e que o profissional da saúde esteja preparado para ajudar, fortalecendo os aspectos psíquicos e emocionais.

An evaluation of an online peer support forum for university students with depressive symptoms

Background: Depression is the most common mental health problem among young people, particularly university students, with prevalence rates as high as 48% reported. This population however, is reluctant to seek professional help. Online interventions may be particularly appealing to students, with evidence suggesting that they use the Internet for mental health support. While there are many mental health resources on the Internet few focus specifically on the needs of young people and few have been evaluated. This research aimed to develop and pilot test an online peer support intervention for students experiencing depressive symptoms. Methods: A depression support Web site (www.losetheblues.ie) was designed specifically for 18-24. year old students. The study used a mixed method, involving quantitative descriptive, pre- and post-test and qualitative descriptive designs. Data were collected using the Centre for Epidemiological Studies Depression Scale (CES-D), a background questionnaire and online forum posts. Results: The sample consisted of 117 university students with self-reported depressive symptoms. Results from participants in the pre- and post-test element of the study, showed no statistical significance. The forum posts revealed that the participants' main difficulties were loneliness and perceived lack of socialization skills. The Web site provided a place for sharing, offering and receiving emotional and informational support. Conclusion: Developing health care interventions in an online environment presents unique challenges to the research process, however they have the potential to provide mental health care that is accessible and affordable.

The Neural Basis of Involuntary Episodic Memories

Involuntary episodic memories are memories that come into consciousness without preceding retrieval effort. These memories are commonplace and are relevant to multiple mental disorders. However, they are vastly understudied. We use a novel paradigm to elicit involuntary memories in the laboratory so that we can study their neural basis. In session one, an encoding session, sounds are presented with picture pairs or alone. In session two, in the scanner, sounds-picture pairs and unpaired sounds are reencoded. Immediately following, participants are split into two groups: a voluntary and an involuntary group. Both groups perform a sound localization task in which they hear the sounds and indicate the side from which they are coming. The voluntary group additionally tries to remember the pictures that were paired with the sounds. Looking at neural activity, we find a main effect of condition (paired vs. unpaired sounds) showing similar activity in both groups for voluntary and involuntary memories in regions typically associated with retrieval. There is also a main effect of group (voluntary vs. involuntary) in the dorsolateral prefrontal cortex, a region typically associated with cognitive control. Turning to connectivity similarities and differences between groups again, there is a main effect of condition showing paired > unpaired sounds are associated with a recollection network. In addition, three group differences were found: (1) increased connectivity between the pulvinar nucleus of the thalamus and the recollection network for the voluntary group, (2) a higher association between the voluntary group and a network that includes regions typically found in frontoparietal and cingulo-opercular networks, and (3) shorter path length for about half of the nodes in these networks for the voluntary group. Finally, we use the same paradigm to compare involuntary memories in people with posttraumatic stress disorder (PTSD) to trauma-controls. This study also included the addition of emotional pictures. There were two main findings. (1) A similar pattern of activity was found for paired > unpaired sounds for both groups but this activity was delayed in the PTSD group. (2) A similar pattern of activity was found for high > low emotion stimuli but it occurred early in the PTSD group compared to the control group. Our results suggest that involuntary and voluntary memories share the same neural representation but that voluntary memories are associated with additional cognitive control processes. They also suggest that disorders associated with cognitive deficits, like PTSD, can affect the processing of involuntary memories.

Asumiendo las consecuencias negativas de la adicción al juego

La adicción al juego no sólo se caracteriza por la pérdida de control ante el juego, sino que esta conducta tiende a generar problemas en los diferentes ámbitos de la vida del ludópata. Por ello, este aspecto se recoge en el Manual diagnóstico y estadístico de los trastornos mentales-5 (DSM-V) como uno de los criterios para realizar su valoración diagnóstica. Objetivo: describir y analizar los diferentes elementos que conforman la compleja problemática aparejada a esta adicción y que pueden terminar en situaciones de exclusión social. Método: Se opta por una metodología cualitativa que se ajusta mejor a los intereses del estudio. Como técnica se ha seleccionado la historia de vida, instrumento de evaluación que permite conocer la verdadera magnitud del problema desde el punto de vista de los afectados. Resultados. De manera general, se ha descubierto que ser ludópata tiene muchos más consecuentes que el problema económico evidente. No debemos despreciar las implicaciones de esta conducta a otros niveles: familiar, laboral, legal y social, que pueden considerarse, a medio plazo, como factores mucho más execrables que el del mero gasto económico. Conclusión. Es fácil avistar que los graves problemas que acarrea la adicción al juego son capaces de desmembrar el proyecto vital del ludópata y el de su familia. Todo vale, aunque para ello tenga que jugarse su puesto de trabajo, su casa, su familia, sus amistades, su estatus social y su propia dignidad.

Duelo, ansiedad y depresión en familiares de pacientes en una unidad de cuidados paliativos a los dos meses de la pérdida

Aim: This study is going to assess the prevalance of prolonged grief diagnoses and it will evaluate the severity of the symptoms of depression, anxiety and complicated grief two months after a loved one is lost. We also intend to study which variables associated with the risk of grief could be more decisive when diagnosing it, its symptoms and the consequent emotional distress.Method: A total of 66 families of patients in the Palliative Care Unit (PCU) at Hospital San Cecilio in Granada have been evaluated. Measurements were taken two months after the death. This investigation has explored the existing emotional distress using the following questionnaires: Beck Depression Inventory (BDI-II), Beck Anxiety Inventory (BAI), Inventory of Complicated Grief (ICG) and Prolongued Grief Disorder (PG-12).Results: The results show that 33.3% and 21.21% of the sufferers had high levels of depression and clinical anxiety two months after the death. The prevalence of prolongued grief diagnoses, according to the PG-12, is 10.6% and 53.03% of the participants showed symptoms of complicated grief according to the ICG. Additionally, statistically significant differences are found in the sufferers with and without a prolongued grief diagnosis and scores in the ICG and BDI-II. The family’s financial situation is linked to the presence of symptoms of anxiety and depression and complicated grief, with the most determining variable being the risk of grief. Finally, the greater the age of the deceased and the longer the time spent in the PCU is linked to fewer symptoms of grief. However, important links have been found between the sufferers who have experienced stressful critical events prior to losing their loved one, with symptoms of depression, anxiety and complicated grief.Conclusions: The high numbers of cases of symptoms of complicated grief and levels of anxiety and clinical depression two months after a death suggests that early interventions should be carried out in those individuals with greater vulnerability.

Terapia de aceptación y compromiso en un caso de tras¬torno mixto de ansiedad y depresión en una paciente con cáncer

This paper introduces the case of a woman with breast cancer who had developed a mixed depressive-anxiety disorder with avoidance behaviors. The patient presented depressive symptoms like listlessness, insomnia, weeping, food disorders and hopelessness though. Also, she exhibited physiological arousal and restlessness feelings. Additionally, the patient had an avoidance patron behavior in relation with all stimulus she believed could hurt her. Based on the Acceptance and Commitment Therapy (ACT) the intervention planted the following objectives: the patient will learn to accept her illness and the emotional distress that she was experiencing, also, the patient will recover the other areas of her life that she had abandoned. The treatment was developed in 14 sessions. The therapist used these techniques: creative hopelessness, disabling verbal functions, values clarification and loss of control over private events. In the results, it was observed a positive change in the behavior of the patient as well as a decrease in emotional distress that was his reason for initial consultation

Household "ethnoscapes" and rite of passage: meaning and chronicity of the diagnosis in schizophrenia

Based on the results of an ethnographic study with people diagnosed with schizophrenia and their relatives in Barcelona and Tarragona along one year, I problematize the transformation of roles and relationships inside the household from the first burst and the assignation of a diagnosis as rite of passage. I appeal to a cultural interpretation of family, understanding the family group as a specific ethnoscape. I analyze the chronicity meaning, and its consequences in the conformation of the “role of sick person” in the context of parental relationships. I also discuss the paradoxes in terms of autonomy for the affected persons because of the projection of cultural connotation of chronicity.

El declive de la memoria en "Tu rostro" mañana de Javier Marías: la escritura revivida

Este trabajo tiene como objetivo estudiar los diferentes estados mentales de los personajes de las novelas de Tu rostro mañana, de Javier Marías. Estudiando las reflexiones del narrador sobre J. Deza, Peter Wheeler o Francisco Rico observamos que su decadencia mental se muestra a través de una suerte de ―presciencia‖ o lucidez momentánea que puede servir para mostrar el silencio como única tendencia de todo discurso. Desde el momento en que toda historia de ficción se cimenta sobre un discurso –no importa su cauce de presentación, ni su fuente– este es falsificado por el tiempo, la gente y cualquier otra herramienta que pueda ser utilizada para contar nada. Las conclusiones de este trabajo muestran la quimera que implica tratar de mantener una contención absoluta sobre lo acaecido, pues dicho vacío de narrativas será ocupado por una suplantación que suele ser el reverso más infame de sus actores. Es por ello que el narrador J. Deza sigue conminado a explicar sus historias, incluso allí donde uno diría que ya no puede haber ni palabras suficientes para traducir un hecho en ficción.