Core Features (core + feature)

Distribution by Scientific Domains
Distribution within Medical Sciences

Selected Abstracts

Primary Care Quality and Addiction Severity: A Prospective Cohort Study

Theresa W. Kim
Background. Alcohol and drug use disorders are chronic diseases that require ongoing management of physical, psychiatric, and social consequences. While specific addiction-focused interventions in primary care are efficacious, the influence of overall primary care quality (PCQ) on addiction outcomes has not been studied. The aim of this study was to prospectively examine if higher PCQ is associated with lower addiction severity among patients with substance use disorders. Study Population. Subjects with alcohol, cocaine, and/or heroin use disorders who initiated primary care after being discharged from an urban residential detoxification program. Measurements. We used the Primary Care Assessment Survey (PCAS), a well-validated, patient-completed survey that measures defining attributes of primary care named by the Institute of Medicine. Nine summary scales cover two broad areas of PCQ: the patient,physician relationship (communication, interpersonal treatment, thoroughness of the physical exam, whole-person knowledge, preventive counseling, and trust) and structural/organizational features of care (organizational access, financial access, and visit-based continuity). Each of the three addiction outcomes (alcohol addiction severity (ASI-alc), drug addiction severity (ASI-drug), and any drug or heavy alcohol use) were derived from the Addiction Severity Index and assessed 6,18 months after PCAS administration. Separate longitudinal regression models included a single PCAS scale as the main predictor variable as well as variables known to be associated with addiction outcomes. Main Results. Eight of the nine PCAS scales were associated with lower alcohol addiction severity at follow-up (p,.05). Two measures of relationship quality (communication and whole- person knowledge of the patient) were associated with the largest decreases in ASI-alc (,0.06). More whole-person knowledge, organizational access, and visit-based continuity predicted lower drug addiction severity (ASI-drug: ,0.02). Two PCAS scales (trust and whole-person knowledge of the patient) were associated with lower likelihood of subsequent substance use (adjusted odds ratio, [AOR]=0.76, 95 percent confidence interval [95% CI]=0.60, 0.96 and AOR=0.66, 95 percent CI=0.52, 0.85, respectively). Conclusion. Core features of PCQ, particularly those reflecting the quality of the physician,patient relationship, were associated with positive addiction outcomes. Our findings suggest that the provision of patient-centered, comprehensive care from a primary care clinician may be an important treatment component for substance use disorders. [source]

Hierarchical structures of affect and psychopathology and their implications for the classification of emotional disorders,

David Watson
Abstract The Diagnostic and Statistical Manual of Mental Disorders,IV groups disorders into diagnostic classes on the basis of the subjective criterion of "shared phenomenological features." The current mood and anxiety disorders reflect the logic of older models emphasizing the existence of discrete emotions and, consequently, are based on a fundamental distinction between depressed mood (central to the mood disorders) and anxious mood (a core feature of the anxiety disorders). This distinction, however, ignores subsequent work that has established the existence of a general negative affect dimension that (a) produces strong correlations between anxious and depressed mood and (b) is largely responsible for the substantial comorbidity between the mood and anxiety disorders. More generally, there are now sufficient data to eliminate the current rational system and replace it with an empirically based taxonomy that reflects the actual,not the assumed,similarities among disorders. The existing structural evidence establishes that the mood and anxiety disorders should be collapsed together into an overarching superclass of emotional disorders, which can be decomposed into three subclasses: the distress disorders (major depression, dysthymic disorder, generalized anxiety disorder, posttraumatic stress disorder), the fear disorders (panic disorder, agoraphobia, social phobia, specific phobia), and the bipolar disorders (bipolar I, bipolar II, cyclothymia). An empirically based system of this type will facilitate differential diagnosis and encourage the ultimate development of an etiologically based taxonomy. Depression and Anxiety 25:282,288, 2008. Published 2008 Wiley-Liss, Inc. [source]

Social functioning as an outcome measure in schizophrenia studies

T. Burns
Objective:, Deficits in social functioning are a core feature of schizophrenia. Method:, A literature search of English language articles published between January 1990 and December 2006 was undertaken to identify: i) scales used most frequently to assess social functioning in schizophrenia; and ii) the most frequently used social functioning scales in randomized, controlled trials of antipsychotics. A further search (without time limits) examined their psychometric properties. Results:, A total of 301 articles employed social functioning scales in the assessment of schizophrenia. These contained 87 potentially relevant measures. Only 14 randomized, controlled studies of antipsychotic agents were identified that examined social functioning. Scales varied greatly in terms of measurement approach, number and types of domains covered and scoring systems. A striking lack of data on psychometric properties was observed. Conclusion:, Limited consensus on the definition and measurement of social functioning exists. The Personal and Social Performance Scale is proposed as a useful tool in future research. [source]

,My biggest fear was that people would reject me once they knew my status,': stigma as experienced by patients in an HIV/AIDS clinic in Johannesburg, South Africa

Leah Gilbert BA MPH PhD
Abstract Stigma is not a new concept; however, it remains highly significant in the context of HIV/AIDS in South Africa. There is wide consensus that HIV/AIDS-related stigma compromises the well-being of people living with the disease. This paper is part of a larger study that seeks to understand the social and cultural complexity related to the provision and outcomes of antiretroviral therapy (ART) in South Africa. It explores and analyses how patients on ART perceived and experienced stigma and how it has shaped their behaviour towards, as well as their understanding of the epidemic. The data have been collected by means of in-depth face-to-face interviews, conducted between June and November 2007, with a sample of 44 patients in an HIV/AIDS clinic in a resource-limited setting in Johannesburg, South Africa. The findings reveal that the level of felt and anticipated stigma is intense and affects all dimensions of living with HIV/AIDS, particularly disclosure and treatment. Stigma permeates the experience of HIV-positive people on ART who participated in this study. The intensity of HIV/AIDS-related stigma can threaten to compromise the value of ART, thus impacting on the daily lives of people living with HIV/AIDS (PLWHA). This study suggests that three decades into the epidemic, stigmatisation remains a core feature of the patient experience of HIV/AIDS. In the clinic in which this research was conducted, HIV/AIDS was regarded as a chronic condition increasingly manageable by ongoing access to ART. However, this approach was not shared by many family members, neighbours and employers who held highly stigmatised views. [source]

Validity and utility of the current definition of binge eating

Barbara E. Wolfe PhD, FAAN
Abstract Objective Binge eating, a cardinal symptom of bulimia nervosa (BN) and binge eating disorder (BED), continues to pose challenges in terms of its definition and thus construct validity and clinical utility. This article reviews the available empirical data that support or refute the current DSM-IV-TR defined characteristics of a binge episode. Method A systematic literature review was conducted using Medline/PubMed electronic database on DSM-IV-TR defined binge characteristics and associated attributes. Results Data support the current DSM guidelines indicating that binge episodes typically occur in less than 2 h. Size of binge episodes has variability across BN and BED diagnostic groups. Loss of control (LOC) continues to be a core feature of binge eating. Negative affect is the most widely reported antecedent. Strikingly, little is known about binge episodes among individuals with anorexia nervosa-binge/purge subtype. Discussion Available empirical evidence supports the current DSM duration and LOC attributes of a binge episode in BN and BED. However, a more controversial issues is the extent to which size is important in the definition of a binge episode (e.g., subjective vs. objective episodes) across diagnostic categories and the extent to which binge size informs prognosis, treatment, and clinical outcomes. Further study of binge eating attributes in AN is needed. © 2009 American Psychiatric Association. Int J Eat Disord 2009 [source]

Cognitive distortions in child sex offenders: An overview of theory, research & practice

Shruti Navathe BscHons
Abstract A great deal of clinical and research attention has been paid to understanding and explaining child sex offenders' social cognition. Cognitive distortions have been implicated as a core feature of child sex offenders' offense supportive cognition. The primary aim of this paper is to critically evaluate the phenomenon of cognitive distortions as currently understood with respect to child sex offenders: it reviews the theoretical and research literature and highlights the implications for clinical practice. [source]

Involvement of motor pathways in corticobasal syndrome detected by diffusion tensor tractography,

Kai Boelmans MD
Abstract Corticobasal syndrome (CBS) is a progressive parkinsonian disease characterized by cortical and subcortical neuronal loss. Although motor disabilities are a core feature of CBS, the involvement of motor pathways in this condition has not been completely clarified. We used magnetic resonance diffusion tensor imaging (DTI) to study corticospinal and transcallosal motor projections in CBS, and applied fiber tractography to analyze the axonal integrity of white matter projections. Ten patients with CBS were compared with 10 age-matched healthy controls. Fiber tracts were computed using a Monte-Carlo simulation approach. Tract-specific mean values of the apparent diffusion coefficient (ADC) and fractional anisotropy (FA) were determined. CBS patients showed a reduction of corticospinal tract (CST) fibers on the first affected side with significantly increased ADC and reduced FA values. In the corpus callosum (CC), particularly in the posterior trunk, patients also had significantly reduced fiber projections, with a higher ADC and lower FA than controls. This pattern indicates changes of the white matter integrity in both CST and CC. Thus, magnetic resonance DTI can be used to assess motor pathway involvement in CBS patients. © 2008 Movement Disorder Society [source]

Smaller amygdala is associated with anxiety in patients with panic disorder

Fumi Hayano phd
Aims:, Anxiety a core feature of panic disorder, is linked to function of the amygdala. Volume alterations in the brain of patients with panic disorder have previously been reported, but there has been no report of amygdala volume association with anxiety. Methods:, Volumes of hippocampus and amygdala were manually measured using magnetic resonance imaging obtained from 27 patients with panic disorder and 30 healthy comparison subjects. In addition the amygdala was focused on, applying small volume correction to optimized voxel-based morphometry (VBM). State,Trait Anxiety Inventory and the NEO Personality Inventory Revised were also used to evaluate anxiety. Results:, Amygdala volumes in both hemispheres were significantly smaller in patients with panic disorder compared with control subjects (left: t = ,2.248, d.f. = 55, P = 0.029; right: t = ,2.892, d.f. = 55, P = 0.005). VBM showed that structural alteration in the panic disorder group occurred on the corticomedial nuclear group within the right amygdala (coordinates [x,y,z (mm)]: [26,,6,,16], Z score = 3.92, family-wise error-corrected P = 0.002). The state anxiety was negatively correlated with the left amygdala volume in patients with panic disorder (r = ,0.545, P = 0.016). Conclusions:, These findings suggested that the smaller volume of the amygdala may be associated with anxiety in panic disorder. Of note, the smaller subregion in the amygdala estimated on VBM could correspond to the corticomedial nuclear group including the central nucleus, which may play a crucial role in panic attack. [source]

A ventral prefrontal-amygdala neural system in bipolar disorder: a view from neuroimaging research

Fay Y. Womer
In the past decade, neuroimaging research has identified key components in the neural system that underlies bipolar disorder (BD). The ventral prefrontal cortex (VPFC) and amygdala are highly interconnected structures that jointly play a central role in emotional regulation. Numerous research groups have reported prominent structural and functional abnormalities within the VPFC and amygdala supporting their essential role in a neural system underlying the emotional dysregulation that is a core feature of BD. Findings in BD also include those in brain regions interconnected with the VPFC and amygdala, including the ventral striatum, hippocampus and the cerebellum. Abnormalities in these regions may contribute to symptoms that reflect disruption in functions sub-served by these structures, including motivational, mnemonic and psychomotor functions. This article will first review leads from behavioural neurology that implicated these neural system abnormalities in BD. It will then review findings from structural and functional imaging studies to support the presence of abnormalities within these neural system components in BD. It will also review new findings from studies using diffusion tensor imaging (DTI) that provide increasing evidence of abnormalities in the connections between these neural system components in BD. Emerging data supporting differences in this neural system during adolescence, as well as potential beneficial effects of treatment on structure and function will also be presented. Finally, the article will discuss the implications for future investigations, including those for early identification and treatment of BD. [source]

Emotion regulation therapy for generalized anxiety disorder

Douglas S. Mennin
Generalized anxiety disorder is increasingly being recognized as a considerable mental health concern. However, it remains a poorly understood and insufficiently treated chronic disorder. Recent conceptualizations have highlighted the role of emotion acceptance, utilization and management as a core feature of the disorder. An emotion regulation perspective may shed light on treatment approaches to GAD. An integrative approach to treating GAD, entitled Emotion Regulation Therapy (ERT) is presented through the case of a young woman. ERT addresses cognitive, emotional and contextual factors of GAD and is divided into four phases: (1) psychoeducation, monitoring and developmental history; (2) skills training in somatic awareness and emotional knowledge, utilization and regulation; (3) use of these skills to confront core thematic issues using experiential exposure exercises; (4) and progress review, relapse prevention and termination processing. ERT was shown to successfully treat symptomatic, functional and qualitative aspects of the case presented, suggesting a future direction for therapeutic investigation of GAD.,Copyright © 2004 John Wiley & Sons, Ltd. [source]

Socioemotional Functioning in Bipolar Disorder Versus Typical Development: Behavioral and Neural Differences

Erin B. McClure-ToneArticle first published online: 10 JUN 200
Socioemotional dysfunction is a core feature of bipolar disorder (BD) across the lifespan. Recent evidence indicates associations between this atypical functioning and the presence of neurally based anomalies. This article critically reviews the literature on two types of core socioemotional skills that may represent endophenotypes for BD, with a focus on differences between individuals with BD, both youth and adults, and their typically developing peers. First, it examines studies of social cue perception and interpretation, with an emphasis on behavioral and neural studies of facial expression processing. Second, it shifts to examine behavioral and neural differences in cognitive and behavioral flexibility. Finally, the article summarizes potential future directions for research in this area. [source]

Generalized social phobia and avoidant personality disorder: meaningful distinction or useless duplication?,

Dianne L. Chambless Ph.D.
Abstract Participants with generalized social phobia (GSP) with (n=36) and without (n=19) avoidant personality disorder (AVPD) were compared via contrasts of group means and classification analysis on purported core features of AVPD. GSP-AVPD participants proved to be more severely impaired or distressed on some group contrasts. Cluster analysis identified two groups in the sample, with group membership significantly correlated to AVPD diagnosis. However, almost all significant findings were nullified when severity of social phobia was statistically controlled. Thus, at least where participants with social phobia are concerned, it seems most parsimonious to consider AVPD a severe form of GSP rather than a separate diagnostic category. Depression and Anxiety 0:1,12 2006. Published 2006 Wiley-Liss, Inc. [source]

Performance deficit of ,7 nicotinic receptor knockout mice in a delayed matching-to-place task suggests a mild impairment of working/episodic-like memory

C. Fernandes
Patients with schizophrenia exhibit deficits in a range of cognitive functions, particularly working and episodic memory, which are thought to be core features of the disorder. Memory dysfunction in schizophrenia is familial and thus a promising endophenotype for genetic studies. Both human and animal studies suggest a role for the neural nicotinic acid receptor family in cognition and specifically the ,7-receptor subunit in schizophrenia and its endophenotypes. Consequently, we tested mice lacking the ,7 subunit of the neural nicotinic receptor (B6.129S7-Chrna7tm1Bay/J) in the delayed matching-to-place (DMP) task of the Morris water maze, a measure of working/episodic memory akin to human episodic memory. We report that a minor impairment in ,7 knockout mice was observed in the DMP task, with knockout mice taking longer to find the hidden platform than their wildtype controls. This suggests a role for the ,7 subunit in working/episodic memory and a potential role for the ,7 neural nicotinic receptor gene (CHRNA7) in schizophrenia and its endophenotypes. [source]

,It's lots of bits of paper and ticks and post-it notes and things . . .': a case study of a rapid application development project

Paul Beynon-Davies
This paper reports an in-depth case study of a rapid application development (RAD) project. RAD is a recent information systems development method noted for its high levels of user involvement and use of iterative prototyping. The paper develops a model of the core features of RAD gleaned from literature such as that published on the dynamic systems development method (DSDM). We report an ethnographic study of a RAD project and use this case material to contrast the theory with the practice of RAD. We conclude the paper with a consideration of a number of possible revisions to the prescriptions of RAD and also discuss the role of RAD within the broader context of IS development. ,It's lots of bits of paper and ticks and post-it notes and things . . . you'll get to understand it, it's not that bad really'. A RAD team member [source]

The evolving sociopolitical context of immersion education in Canada: some implications for program development1

Merrill Swain
l'immersion; l'éducation bilingue; le multilingualisme; la théorie socioculturelle In 1997 Swain and Johnson defined immersion as one category within bilingual education, providing examples and discussion from multiple international perspectives. In this article, we review the core features of immersion program design identified by Swain and Johnson and discuss how current sociopolitical realities and new research on second language learning serve to update and refresh the discussion of these features. One feature identified by Swain and Johnson is that "the classroom culture is that of the local L1 community". The dramatic increase in ethnic diversity in Canada's urban centres calls into question the notion of a monolithic culture in the school community. A second example concerns the use of the L1 in the classroom: while a central feature of immersion education is the use of the L2 as medium of instruction, new research suggests that allowing a judicious use of the L1 on the part of learners may be warranted. The article concludes with suggestions for building on multiple L1s in the immersion classroom. En 1997, Swain et Johnson ont défini l'immersion comme une catégorie del'éducation bilingue, fournissant des exemples et une discussion à partir de multiples perspectives internationales. Dans cet article, nous passons en revue les éléments de base du programme d'immersion tels qu'identifiés par Swain et Johnson, et portons la discussion sur la façon dont les réalités socio-politiques actuelles et les nouvelles recherches sur l'apprentissage de la langue seconde permettent de mettre à jour et de reprendre la discussion de ces éléments. Un de ceux-ci, identifié par Swain et Johnson signale que «la culture de la salle de classe est celle de la langue première de la communauté locale.» La remarquable augmentation de la diversité ethnique dans les centres urbains du Canada remet en question la notion d'une culture monolithique dans la communauté scolaire. Un deuxième exemple concerne l'utilisation de la langue première en salle de classe. Bien que l'utilisation de la langue seconde comme moyen d'enseignement reste un élément central de l'immersion, de nouvelles recherches suggèrent que de permettre une utilisation judicieuse de la langue première chez les apprenants peut se justifier. En conclusion, l'article présente des suggestions pour tirer parti des multiples langues premières dans la classe d'immersion. [source]

The health status burden of people with fibromyalgia: a review of studies that assessed health status with the SF-36 or the SF-12

D. L. Hoffman
Summary Objective:, The current review describes how the health status profile of people with fibromyalgia (FM) compares to that of people in the general population and patients with other health conditions. Methods:, A review of 37 studies of FM that measured health status with the 36-item Medical Outcomes Study Short-Form Health Survey (SF-36) or the 12-item Short-Form Health Survey (SF-12). Results:, Studies performed worldwide showed that FM groups were significantly more impaired than people in the general population on all eight health status domains assessed. These domains include physical functioning, role functioning difficulties caused by physical problems, bodily pain, general health, vitality (energy vs. fatigue), social functioning, role functioning difficulties caused by emotional problems and mental health. FM groups had mental health summary scores that fell 1 standard deviation (SD) below the general population mean, and physical health summary scores that fell 2 SD below the general population mean. FM groups also had a poorer overall health status compared to those with other specific pain conditions. FM groups had similar or significantly lower (poorer) physical and mental health status scores compared to those with rheumatoid arthritis, osteoarthritis, osteoporosis, systemic lupus erythematosus, myofacial pain syndrome, primary Sjögren's syndrome and others. FM groups scored significantly lower than the pain condition groups mentioned above on domains of bodily pain and vitality. Health status impairments in pain and vitality are consistent with core features of FM. Conclusions:, People with FM had an overall health status burden that was greater in magnitude compared to people with other specific pain conditions that are widely accepted as impairing. [source]

Narrative Methods and Children: Theoretical Explanations and Practice Issues

Lorna Bennett RN
TOPIC:,The Narrative approach is an innovative way of working with children and adolescents experiencing mental health problems. This approach can be effectively integrated with the expressive arts and other nonverbal ways of accessing the life world of children. In addition, the approach promotes respect for and collaboration with the child in working towards healing and growth. PURPOSE:,In this paper core features of the narrative approach are described; the theoretical and philosophical and evidence base for this approach as well as its congruence with the special nature and needs of children will be explored. Finally, the benefits and challenges of this approach in relation to a specific clinical situation will be highlighted. SOURCES USED:,Published literature and the author's clinical experiences. CONCLUSION:,Narrative methods are ideally suited for addressing needs of children experiencing mental health problems and can enhance therapeutic effectiveness. Some of the challenges associated with its use include: finding creative ways to apply specific narrative concepts and methods with diverse clinical issues/problems; learning to collaborate with children and respect them as experts in their own lives; and shifting the nursing focus from a problem-focused orientation to a strength-oriented and child-centered approach. [source]

Sense of coherence as a protective factor for demoralisation in women with a recent diagnosis of gynaecological cancer

Nadia Boscaglia
Abstract Background: Demoralisation is a dysphoric mood state commonly seen in the medically ill. Its core features comprise hopelessness, helplessness, loss of purpose and meaning, despair, and existential distress. Sense of Coherence (SOC) is a quantifiable dispositional orientation that captures the character traits likely to protect against demoralisation. In this study, we hypothesised on theoretical grounds that a strong SOC would be associated with lower levels of demoralisation in the context of gynaecological cancer (GC). Method: One hundred and twenty women with a recent (<12 months) diagnosis of GC were recruited from outpatient clinics. Participants were interviewed and completed questionnaire measures of demoralisation and SOC. A multiple regression analysis was performed using the five subscales of the Demoralisation Scale as predictor variables and SOC as the dependent variable. Results: Together, the five subscales of the Demoralisation Scale accounted for 60% of the variance in SOC. Conclusions: The results supported the hypothesis, suggesting that SOC may be protective against demoralisation in the context of serious illness. Larger, multivariate studies that examine additional variables (such as coping) would be required to further clarify the relationship between SOC and demoralisation. In the meantime, clinicians may want to consider efforts to enhance SOC in patients. Copyright © 2006 John Wiley & Sons, Ltd. [source]

The roots of empathy and aggression in analysis

Richard Kradin
Abstract:, Empathy and interpretation have complementary roles in analysis. Empathy diminishes psychological arousal, ego-defences, and promotes the therapeutic relationship. Interpretation, when adopted in the service of character analysis and the uncovering of unconscious conflict, represents one element of a larger set of interventions termed analytic aggression, whose primary goal is to promote insight. Psychoanalysis has been increasingly influenced by derivative theories that promote the therapeutic relationship. Clinical observations suggest that the application of analytic aggression has diminished and that many modern treatments may have become overly skewed towards empathic approaches. This paper explores ethical humanism, Jamesian typology, and feminine psychology, as factors that have contributed to the diminished emphasis on analytic aggression in practice. Eastern myth and Buddhist psychology are used to explicate the core features of narcissistic mental structuring and to support the continued importance of analytic aggression in its treatment. Case material is examined to elucidate the benefits and limits of analytic aggression. [source]

Research Review: ,Ain't misbehavin': Towards a developmentally-specified nosology for preschool disruptive behavior

Lauren S. Wakschlag
There is increasing consensus that disruptive behavior disorders and syndromes (DBDs) are identifiable in preschool children. There is also concomitant recognition of the limitations of the current DBD nosology for distinguishing disruptive behavior symptoms from the normative misbehavior of early childhood. In particular, there appears to be substantial insensitivity to heterotypic manifestations of this developmental period and problems in identifying meaningful heterogeneity. As a result, the developmental basis for much of the current nosology may be called into question. To address these and other critical issues, this paper reviews the foundational elements of clinical and developmental science pertinent to developmental differentiation of disruptive behavior in the preschool period as paradigmatic for developmental specification across the lifespan and generates an agenda for future research. We begin by reviewing evidence of the validity of DBDs in preschool children. This is followed by an outline of key developmental concepts and a review of the corollary evidence from developmental science. These provide a basis for conceptualizing disruptive behavior in reference to developmental deviation in four core dimensions hypothesized to mark the core features of disruptive behavior syndromes. Finally, we propose a program of research to establish an empirical basis for determining the incremental utility of a developmentally specified nosology. Central to this approach is a contention that the benefits of developmental specification are extensive and outweigh any disadvantages. This is because a developmentally specified approach holds substantial promise for increasing sensitivity and specificity for differentiating disruptive behavior from normative misbehavior and from other related syndromes as well as for improving prediction. Further, more precisely defined, developmentally based phenotypes are likely to elucidate distinct mechanisms within translational studies and to serve as a catalyst for the generation of novel treatments. [source]

Developmental and degenerative features in a complicated spastic paraplegia

M. Chiara Manzini PhD
Objective We sought to explore the genetic and molecular causes of Troyer syndrome, one of several complicated hereditary spastic paraplegias (HSPs). Troyer syndrome had been thought to be restricted to the Amish; however, we identified 2 Omani families with HSP, short stature, dysarthria and developmental delay,core features of Troyer syndrome,and a novel mutation in the SPG20 gene, which is also mutated in the Amish. In addition, we analyzed SPG20 expression throughout development to infer how disruption of this gene might generate the constellation of developmental and degenerative Troyer syndrome phenotypes. Methods Clinical characterization of 2 non-Amish families with Troyer syndrome was followed by linkage and sequencing analysis. Quantitative polymerase chain reaction and in situ hybridization analysis of SPG20 expression were carried out in embryonic and adult human and mouse tissue. Results Two Omani families carrying a novel SPG20 mutation displayed clinical features remarkably similar to the Amish patients with Troyer syndrome. SPG20 mRNA is expressed broadly but at low relative levels in the adult brain; however, it is robustly and specifically expressed in the limbs, face, and brain during early morphogenesis. Interpretation Null mutations in SPG20 cause Troyer syndrome, a specific clinical entity with developmental and degenerative features. Maximal expression of SPG20 in the limb buds and forebrain during embryogenesis may explain the developmental origin of the skeletal and cognitive defects observed in this disorder. ANN NEUROL 2010;67:516,525 [source]

A review of quality of life issues and people with autism spectrum disorders

Lynn A. Plimley
Summary This article draws on existing theory and research findings in the field of quality of life (QoL) and those with learning/intellectual disability and extrapolates current thinking in terms of measurable domains of QoL. The condition of autism spectrum disorders (ASD) is becoming increasingly prevalent in the sector of supported living and adult residential care. The author examines the core features of ASD and applies known characteristics to ways in which QoL domains and assessment tools can be adapted to people with ASD. [source]

Schizophrenia: genetics, prevention and rehabilitation

Paolo Olgiati
Objective:, Genetic factors are largely implicated in predisposing to schizophrenia. Environmental factors contribute to the onset of the disorder in individuals at increased genetic risk. Cognitive deficits have emerged as endophenotypes and potential therapeutic targets for schizophrenia because of their association with functional outcome. The aims of this review were to analyse the joint effect of genetic and environmental (G×E) factors on liability to schizophrenia and to investigate relationships between genes and cognitive endophenotypes focusing on practical applications for prevention and rehabilitation. Methods:, Medline search of relevant studies published between 1990 and 2008. Results:, In schizophrenia, examples of G×E interaction include the catechol- O -methyl transferase (COMT) (Val158Met) polymorphism, which was found to moderate the onset of psychotic manifestations in response to stress and to increase the risk for psychosis related to cannabis use, and neurodevelopmental genes such as AKT1 (serine-threonine kinase), brain-derived neurotrophic factor (BDNF), DTNBP1 (dysbindin) and GRM3 (metabotropic glutamate receptor 3), which were associated with development of schizophrenia in adulthood after exposure to perinatal obstetric complications. Neurocognitive deficits are recognised as core features of schizophrenia that facilitate the onset of the disorder and have a great impact on functional outcome. Neurocognitive deficits are also endophenotypes that have been linked to a variety of genes [COMT, neuregulin (NRG1), BDNF, Disrupted-In-Schizophrenia 1 (DISC1) and dysbindin] conferring susceptibility to schizophrenia. Recently, it has emerged that cognitive improvement during rehabilitation therapy was under control of COMT (Val158Met) polymorphism. Conclusion:, This review could indicate a pivotal role of psychiatric genetics in prevention and rehabilitation of schizophrenic psychoses. [source]