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

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

El concepto y la práctica de la actividad física y su relación con calidad de vida en los modelos teóricos de la salud

Los estudios acerca del concepto actividad física (AF) son diversos, presentando diferentes concepciones; su relación con calidad de vida suele estar generada dentro del discurso médico, que propende por la ejecución de la Actividad Física desde una mirada netamente biológica. Si bien esta disertación es importante, se debe tener en cuenta que los estudios relacionados con calidad de vida y la AF se basan en la condición de bienestar y percepción frente al estado de salud; dichos estudios no se han realizado desde las condiciones de vida y del contexto social. Si bien es cierto que la mirada médica y lo estudios objetivos son relevantes, ya que arrojan estadísticas que permiten abordar recomendaciones en cuanto a la actividad física, en este documento se elaboró una investigación de tipo cualitativo por medio de la revisión documental del concepto de actividad física, sus prácticas y su relación con calidad de vida, que abordan diferentes autores. Para ello se elige la base de datos PubMed por su énfasis en las publicaciones de salud; se seleccionan artículos publicados del 2004 y 2014, que estudien el concepto de actividad física, sus prácticas y relaciones con calidad de vida, para finalmente hacer un análisis desde los modelos de determinación y determinantes sociales. De esta forma se analiza la posición de los autores con respecto al concepto, sus prácticas y las relaciones que puede llegar a surgir con la calidad de vida. En esta investigación se obtuvo como resultados tendencias biológicas, psicológicas, sociales y culturales, en los cuales los autores dejan clara la posición médica ya que en la mayoría de investigaciones centran sus relaciones en la funcionalidad, y es a través de la visión terapéutica donde buscan el bienestar, la satisfacción de los pacientes que padecen cualquier enfermedad. Además, aparecen categorías emergentes como: cuerpo como medio de publicidad, cibernética que avanza vertiginosamente y el papel del poder en la actividad física que pueden ser contempladas para otros estudios.

Estado de las enfermedades raras que cursan con discapacidad intelectual en Colombia

Las enfermedades raras o huérfano son una problemática que ha tomado mucha importancia en el contexto mundial del presente siglo, estas se han definido como crónicas, de difícil tratamiento de sus síntomas y con baja prevalencia en la población; muchas de estas enfermedades cursan con varios tipos de discapacidad, siendo el objetivo del presente trabajo el enfocarse en aquellas enfermedades raras que cursan con discapacidad intelectual. Para poder profundizar en estas enfermedades se realizó una revisión teórica sobre las enfermedades raras, así como de la discapacidad psíquica y su importancia a nivel mundial y nacional. A partir de estas definiciones, se revisaron en profundidad 3 enfermedades raras que cursan con discapacidad intelectual en el contexto colombiano, como son: el síndrome de Rett, el síndrome de Prader-Willi y el síndrome de X frágil. En cada una de estas enfermedades además se explicaron los tipos de diagnóstico, intervención, prevención, grupos de apoyo y tipos de evaluación que más se usan en el contexto nacional

Laggards in our schools; a study of retardation and elimination in city school systems,

Mode of access: Internet.

Neurolinguistic contributions to understanding the bilingual mental lexicon

Introduction Many bilinguals will have had the experience of unintentionally reading something in a language other than the intended one (e.g. MUG to mean mosquito in Dutch rather than a receptacle for a hot drink, as one of the possible intended English meanings), of finding themselves blocked on a word for which many alternatives suggest themselves (but, somewhat annoyingly, not in the right language), of their accent changing when stressed or tired and, occasionally, of starting to speak in a language that is not understood by those around them. These instances where lexical access appears compromised and control over language behavior is reduced hint at the intricate structure of the bilingual lexical architecture and the complexity of the processes by which knowledge is accessed and retrieved. While bilinguals might tend to blame word finding and other language problems on their bilinguality, these difficulties per se are not unique to the bilingual population. However, what is unique, and yet far more common than is appreciated by monolinguals, is the cognitive architecture that subserves bilingual language processing. With bilingualism (and multilingualism) the rule rather than the exception (Grosjean, 1982), this architecture may well be the default structure of the language processing system. As such, it is critical that we understand more fully not only how the processing of more than one language is subserved by the brain, but also how this understanding furthers our knowledge of the cognitive architecture that encapsulates the bilingual mental lexicon. The neurolinguistic approach to bilingualism focuses on determining the manner in which the two (or more) languages are stored in the brain and how they are differentially (or similarly) processed. The underlying assumption is that the acquisition of more than one language requires at the very least a change to or expansion of the existing lexicon, if not the formation of language-specific components, and this is likely to manifest in some way at the physiological level. There are many sources of information, ranging from data on bilingual aphasic patients (Paradis, 1977, 1985, 1997) to lateralization (Vaid, 1983; see Hull & Vaid, 2006, for a review), recordings of event-related potentials (ERPs) (e.g. Ardal et al., 1990; Phillips et al., 2006), and positron emission tomography (PET) and functional magnetic resonance imaging (fMRI) studies of neurologically intact bilinguals (see Indefrey, 2006; Vaid & Hull, 2002, for reviews). Following the consideration of methodological issues and interpretative limitations that characterize these approaches, the chapter focuses on how the application of these approaches has furthered our understanding of (1) selectivity of bilingual lexical access, (2) distinctions between word types in the bilingual lexicon and (3) control processes that enable language selection.

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.

Interventions for co-occurring addictive and other mental disorders (AMDs)

While research on the management of co-occurring addictive and mental disorders (AMDs) has grown substantially in recent years, we still have little guidance on specific strategies. Consideration of epidemiological research and ethical principles can supplement existing clinical trials in providing a way forward. High frequencies of co-occurring disorders, equity of access for affected individuals and potential clashes between services in priorities and procedures, suggest that a stepped model of care by a single service may often be required. Typically, problems are multiple rather than dual, with potential for mutual influence, suggesting a need for interventions that are sensitive to and encompass complex co-occurring problems. Motivational problems are endemic, initial gains are often partial and unstable, and relapses potentially have serious consequences, suggesting a need for long-term, assertive follow-up. Principles such as these provide a solid framework for designing both services and interventions. However, there is a continuing need for controlled trials that unpack effective components of interventions, and increase their impact.

Mental health issues and resources in rural and regional communities : an exploration of perceptions of service providers

Objective: To identify service providers’ and community organisations’ perceptions of the resources available to support people with mental illness and the unmet needs of this client group in rural Queensland. Design: An exploratory study was undertaken involving focus group interviews across the study sites. Setting: Five regional towns in rural Queensland. Participants: Ten to 14 members were recruited for each of the five focus groups. The groups represented a diverse mix of participants including health and community service providers and representatives from community organisations. Results: Participants identified gaps in services in relation to health, employment and education, housing and accommodation, transport and social inclusion and health promotion. Inter-service communication and inappropriate funding models were themes affecting service delivery. Conclusions: Specific service issues of housing and transport were identified to be particularly problematic for people with mental illness across all towns. Intersectoral communication and funding models require further research.

Current evidence on integrated treatment for serious mental disorder and substance misuse

Substance misuse in people with serious mental disorders is common and has a wideranging negative impact. The multiplicity of problems suggests that this comorbidity is better conceptualized as a type of complex disorder than by ‘dual diagnosis’. Problems with sequential and parallel treatments have led to the development of integrated approaches, with one practitioner or team addressing both the substance use and mental disorder. These treatments are typically characterized by motivation enhancement, minimizing treatment-related stress, emphasizing harm reduction as well as abstinence, and assertive outreach. A review of published randomized trials demonstrates that superior effects to controls are rarely consistent across treatment foci and over time. While motivational interventions assist engagement, more intervention is usually required for integrated treatment programs to improve long-term outcomes more than control conditions. More intensive case management does not consistently improve impact, but extended cognitive-behavioral therapies have promise. Suggestions for maximizing treatment effects and improving research evidence are provided.

Should mental health issues be addressed in primary care, and can it be done? Views of rural general practitioners in Queensland

Objective: The aim of this paper was to examine self-efficacy and perceived appropriateness among rural general practitioners (GPs) in regards to screening and intervention for physical, lifestyle and mental health issues. ----- Method: Fifty GPs from 25 practices in eight rural Queensland towns completed a written survey designed for the study. ----- Results: General practitioners rated opportunistic screening or assessment for smoking and for detection of relapse of mental disorders as the most appropriate, with even cardiovascular and diabetes risk falling behind these. Self-efficacy was highest for medical disorders for smoking assessment. It was significantly lower for alcohol, mental health issues, and addressing risks of physical disorder in people with mental disorders. ----- Conclusions: High appropriateness ratings suggest that current strategies to boost self-efficacy of GPs in addressing mental health issues are timely.

Challenges faced by general practitioners and allied mental health services in providing mental health services in rural Queensland

Objective: To examine the views of rural practitioners concerning issues and challenges in mental health service delivery and possible solutions. Design: A qualitative study using individual semi-structured interviews. Setting: Eight general practices from eight rural Queensland towns, three rural mental health services and two non-government organisations, with interviews being conducted before recent changes in government-subsidised access to allied health practitioners. Participants: A sample of 37 GPs, 19 Queensland Health mental health staff and 18 participants from community organisations. Main outcome measures: Analysis of qualitative themes from questions about the key mental health issues facing the town, bow they might be addressed and what challenges would be faced in addressing them. Results: There was substantial consensus that there are significant problems with inter-service communication and liaison, and that improved collaboration and shared care will form a critical part of any effective solution. Differences between groups reflected differing organisational contexts and priorities, and limitations to the understanding each had of the challenges that other groups were facing. C onclusions: Improvements to mental health staffing and to access to allied health might increase the ability of GPs to meet the needs of less complex patients, but specific strategies to promote better integrated services are required to address the needs of rural and regional patients with complex mental health problems. The current study provides a baseline against which effects of recent initiatives to improve mental health care can be assessed.