HPA axis related genes and response to psychological therapies: genetics and epigenetics

Background Hypothalamic–pituitary–adrenal (HPA) axis functioning has been implicated in the development of stress-related psychiatric diagnoses and response to adverse life experiences. This study aimed to investigate the association between genetic and epigenetics in HPA axis and response to cognitive behavior therapy (CBT). Methods Children with anxiety disorders were recruited into the Genes for Treatment project (GxT, N = 1,152). Polymorphisms of FKBP5 and GR were analyzed for association with response to CBT. Percentage DNA methylation at the FKBP5 and GR promoter regions was measured before and after CBT in a subset (n = 98). Linear mixed effect models were used to investigate the relationship between genotype, DNA methylation, and change in primary anxiety disorder severity (treatment response). Results Treatment response was not associated with FKBP5 and GR polymorphisms, or pretreatment percentage DNA methylation. However, change in FKBP5 DNA methylation was nominally significantly associated with treatment response. Participants who demonstrated the greatest reduction in severity decreased in percentage DNA methylation during treatment, whereas those with little/no reduction in severity increased in percentage DNA methylation. This effect was driven by those with one or more FKBP5 risk alleles, with no association seen in those with no FKBP5 risk alleles. No significant association was found between GR methylation and response. Conclusions Allele-specific change in FKBP5 methylation was associated with treatment response. This is the largest study to date investigating the role of HPA axis related genes in response to a psychological therapy. Furthermore, this is the first study to demonstrate that DNA methylation changes may be associated with response to psychological therapies in a genotype-dependent manner

"Don't wait for them to come to you, you go to them". A qualitative study of recruitment approaches in community based walking programmes in the UK

<p>Abstract</p> <p>Background</p> <p>This study aimed to examine the experiences of walking promotion professionals on the range and effectiveness of recruitment strategies used within community based walking programmes within the United Kingdom.</p> <p>Methods</p> <p>Two researchers recruited and conducted semi-structured interviews with managers and project co-ordinators of community based walking programmes, across the UK, using a purposive sampling frame. Twenty eight interviews were conducted, with community projects targeting participants by age, physical activity status, socio-demographic characteristics (i.e. ethnic group) or by health status. Three case studies were also conducted with programmes aiming to recruit priority groups and also demonstrating innovative recruitment methods. Data analysis adopted an approach using analytic induction.</p> <p>Results</p> <p>Two types of programmes were identified: those with explicit health aims and those without. Programme aims which required targeting of specific groups adopted more specific recruitment methods. The selection of recruitment method was dependent on the respondent’s awareness of ‘what works’ and the resource capacity at their disposal. Word of mouth was perceived to be the most effective means of recruitment but using this approach took time and effort to build relationships with target groups, usually through a third party. Perceived effectiveness of recruitment was assessed by number of participants rather than numbers of the right participants. Some programmes, particularly those targeting younger adult participants, recruited using new social communication media. Where adopted, social marketing recruitment strategies tended to promote the ‘social’ rather than the ‘health’ benefits of walking.</p> <p>Conclusions</p> <p>Effective walking programme recruitment seems to require trained, strategic, labour intensive, word-of-mouth communication, often in partnerships, in order to understand needs and develop trust and motivation within disengaged sedentary communities. Walking promotion professionals require better training and resources to deliver appropriate recruitment strategies to reach priority groups.</p

Cognition and Behaviour in Sotos Syndrome: A Systematic Review

BACKGROUND:Research investigating cognition and behaviour in Sotos syndrome has been sporadic and to date, there is no published overview of study findings. METHOD:A systematic review of all published literature (1964-2015) presenting empirical data on cognition and behaviour in Sotos syndrome. Thirty four journal articles met inclusion criteria. Within this literature, data relating to cognition and/or behaviour in 247 individuals with a diagnosis of Sotos syndrome were reported. Ten papers reported group data on cognition and/or behaviour. The remaining papers employed a case study design. RESULTS:Intelligence quotient (IQ) scores were reported in twenty five studies. Intellectual disability (IQ < 70) or borderline intellectual functioning (IQ 70-84) was present in the vast majority of individuals with Sotos syndrome. Seven studies reported performance on subscales of intelligence tests. Data from these studies indicate that verbal IQ scores are consistently higher than performance IQ scores. Fourteen papers provided data on behavioural features of individuals with Sotos syndrome. Key themes that emerged in the behavioural literature were overlap with ASD, ADHD, anxiety and high prevalence of aggression/tantrums. CONCLUSION:Although a range of studies have provided insight into cognition and behaviour in Sotos syndrome, specific profiles have not yet been fully specified. Recommendations for future research are provided

A disorder of affect: Love, tragedy, biomedicine, and citizenship in American autism research, 1943–2003

This dissertation is a social history and ethnography of the biology of affect, and of affect in the practice of biology during the second half of the twentieth century and in the present. I argue throughout the affective dimensions of practice are a crucial aspect of the production of citizenship via biomedical techniques and knowledge. These affective dimensions of love and loss, moreover, provide a way of opening up biomedical practice to scrutiny in ways consistent with the project of feminist science studies, while remaining in conversation with literatures in the social studies of science and science policy studies. I use autism, a severe neurodevelopmental disorder commonly diagnosed in childhood, as a lens through which to examine the ways that affect structures practices of knowledge-production in various communities, including schools, gene banks, professional associations, government committees, and treatment conferences. Because of the contested nature of the autism diagnosis, the possibility of an increase in incidence, and concerns about environmental risks, autism presents an important case of what will prove to be an increasingly common form of participation in politics using the language and practices of biomedicine, risk assessment, and concepts of vulnerability and genetic variability. Autism as a diagnostic entity has changed dramatically over the course of the past sixty years. I track these changes to demonstrate the ways that autism has been constituted through research, treatment, parent groups, and educational systems, paying attention to the functional utility of the diagnosis and the desires and interests driving these changes. Where autism was historically conceptualized in terms of an affective deficit, it is now understood among some communities as a metabolic disorder, and among other communities as the product of mutations in a set of yet-to-be identified genes. Nevertheless, discourses of affect, ruminations on its cognitive correlates, and speculations on the role of love and of deficits of love have informed the history of research on autism. This historical context lends a unique reflexivity to contemporary discussions. Autism research is both a framework for understanding the ways that emotions have been examined and manipulated in the course of medical research and therapeutic attempts, and a remarkable case study of the importance of emotion in producing, stabilizing, and certifying scientific facts, expertise, and ideologies in the context of the deeply—and necessarily, integrally—pluralistic culture of American biomedicine

A disorder of affect: Love, tragedy, biomedicine, and citizenship in American autism research, 1943–2003

This dissertation is a social history and ethnography of the biology of affect, and of affect in the practice of biology during the second half of the twentieth century and in the present. I argue throughout the affective dimensions of practice are a crucial aspect of the production of citizenship via biomedical techniques and knowledge. These affective dimensions of love and loss, moreover, provide a way of opening up biomedical practice to scrutiny in ways consistent with the project of feminist science studies, while remaining in conversation with literatures in the social studies of science and science policy studies. I use autism, a severe neurodevelopmental disorder commonly diagnosed in childhood, as a lens through which to examine the ways that affect structures practices of knowledge-production in various communities, including schools, gene banks, professional associations, government committees, and treatment conferences. Because of the contested nature of the autism diagnosis, the possibility of an increase in incidence, and concerns about environmental risks, autism presents an important case of what will prove to be an increasingly common form of participation in politics using the language and practices of biomedicine, risk assessment, and concepts of vulnerability and genetic variability. Autism as a diagnostic entity has changed dramatically over the course of the past sixty years. I track these changes to demonstrate the ways that autism has been constituted through research, treatment, parent groups, and educational systems, paying attention to the functional utility of the diagnosis and the desires and interests driving these changes. Where autism was historically conceptualized in terms of an affective deficit, it is now understood among some communities as a metabolic disorder, and among other communities as the product of mutations in a set of yet-to-be identified genes. Nevertheless, discourses of affect, ruminations on its cognitive correlates, and speculations on the role of love and of deficits of love have informed the history of research on autism. This historical context lends a unique reflexivity to contemporary discussions. Autism research is both a framework for understanding the ways that emotions have been examined and manipulated in the course of medical research and therapeutic attempts, and a remarkable case study of the importance of emotion in producing, stabilizing, and certifying scientific facts, expertise, and ideologies in the context of the deeply—and necessarily, integrally—pluralistic culture of American biomedicine

Disease in history, history in disease: An interview with Charles Rosenberg

History of Scienc

Understanding autism: parents and pediatricians in historical perspective

Both primary care providers and subspecialists in pediatrics encounter families who are actively involved in the diagnosis and treatment of their children. Parents of children with an autism spectrum disorder in particular are often aware of scientific issues, and their expertise and desire for a medical cure for autism sometimes put them at odds with the medical team. We investigated the role of parents and advocates in autism research and treatment over the last 50 years. Our review of scientific publications and archival sources documents how parents and advocacy groups have done the following: (1) organized research funding; (2) constructed clinical research networks; (3) suggested new avenues for research; (4) popularized empirically based therapies; and (5) anticipated paradigmatic shifts in the understanding of autism. We believe that this historical account will help pediatricians and researchers recognize that families can contribute to expert understanding of complex medical conditions such as autism and that the existence of partnerships with families of children with autism is a critical component of future research and treatment programs