A Qualitative Study of Communication between Young Women with Disorders of Sex Development and Health Professionals

Background and Objectives. Health communication is a critical aspect of care for both providers and recipients having a direct influence on engagement and outcomes. Communicating which in this context includes talking and listening in order to share information or support young women to understand their DSD can be difficult especially since the topic area is sensitive. Methods. In this qualitative study thirteen young women (aged 14–19 years) with a disorder of sex development who engaged with health care professionals were purposively recruited between 2011 and 2012 from three specialist centres across the United Kingdom. The young women either were interviewed or completed a diary about their experiences of communication with a range of health care professionals. An interpretative phenomenological approach was used to analyse these data. Results. By analysis of data the young women were able to clearly articulate the qualities and skills health professional needed in relation to communication. Two main categories focused on the duty in which professionals have to share information and their role in supporting young women to manage this information. Discussion and Conclusion.The study results revealed that these young women with a DSD expected to meet skilled professionals who could recognise the emotional aspects of dialogues in the short and longer term

Evaluating a telehealth intervention for urinalysis monitoring in children with neurogenic bladder

Telehealth as a community-monitoring project within children’s urology care is an innovative development. There is limited evidence of the inclusion of staff and parents in the early-stage development and later adoption of telehealth initiatives within routine urological nursing care or families’ management of their child’s bladder. The aim was to explore the experiences of key stakeholders (parents, clinicians, and technical experts) of the proof of concept telehealth intervention in terms of remote community-based urinalysis monitoring by parents of their child’s urine. A concurrent mixed-methods research design used soft systems methodology tools to inform data collection and analysis following interviews, observation, and e-surveys with stakeholders. Findings showed that the parents adopted aspects of the telehealth intervention (urinalysis) but were less engaged with the voiding diary and weighing. The parents gained confidence in decision-making and identified that the intervention reduced delays in their child receiving appropriate treatment, decreased the time burden, and improved engagement with general practitioners. Managing the additional workload was a challenge for the clinical team. Parental empowerment and self-efficacy were clear outcomes from the intervention. Parents exercised their confidence and control and were selective about which aspects of the intervention they perceived as having credibility and which they valued

Because You Said \u27I Love You\u27

Illustration of the backside of man and woman facing house on hillhttps://scholarsjunction.msstate.edu/cht-sheet-music/9005/thumbnail.jp

Common Genetic Variants, Acting Additively, Are a Major Source of Risk for Autism

Background: Autism spectrum disorders (ASD) are early onset neurodevelopmental syndromes typified by impairments in reciprocal social interaction and communication, accompanied by restricted and repetitive behaviors. While rare and especially de novo genetic variation are known to affect liability, whether common genetic polymorphism plays a substantial role is an open question and the relative contribution of genes and environment is contentious. It is probable that the relative contributions of rare and common variation, as well as environment, differs between ASD families having only a single affected individual (simplex) versus multiplex families who have two or more affected individuals. Methods: By using quantitative genetics techniques and the contrast of ASD subjects to controls, we estimate what portion of liability can be explained by additive genetic effects, known as narrow-sense heritability. We evaluate relatives of ASD subjects using the same methods to evaluate the assumptions of the additive model and partition families by simplex/multiplex status to determine how heritability changes with status. Results: By analyzing common variation throughout the genome, we show that common genetic polymorphism exerts substantial additive genetic effects on ASD liability and that simplex/multiplex family status has an impact on the identified composition of that risk. As a fraction of the total variation in liability, the estimated narrow-sense heritability exceeds 60% for ASD individuals from multiplex families and is approximately 40% for simplex families. By analyzing parents, unaffected siblings and alleles not transmitted from parents to their affected children, we conclude that the data for simplex ASD families follow the expectation for additive models closely. The data from multiplex families deviate somewhat from an additive model, possibly due to parental assortative mating. Conclusions: Our results, when viewed in the context of results from genome-wide association studies, demonstrate that a myriad of common variants of very small effect impacts ASD liability

Common genetic variants, acting additively, are a major source of risk for autism

Abstract Background Autism spectrum disorders (ASD) are early onset neurodevelopmental syndromes typified by impairments in reciprocal social interaction and communication, accompanied by restricted and repetitive behaviors. While rare and especially de novo genetic variation are known to affect liability, whether common genetic polymorphism plays a substantial role is an open question and the relative contribution of genes and environment is contentious. It is probable that the relative contributions of rare and common variation, as well as environment, differs between ASD families having only a single affected individual (simplex) versus multiplex families who have two or more affected individuals. Methods By using quantitative genetics techniques and the contrast of ASD subjects to controls, we estimate what portion of liability can be explained by additive genetic effects, known as narrow-sense heritability. We evaluate relatives of ASD subjects using the same methods to evaluate the assumptions of the additive model and partition families by simplex/multiplex status to determine how heritability changes with status. Results By analyzing common variation throughout the genome, we show that common genetic polymorphism exerts substantial additive genetic effects on ASD liability and that simplex/multiplex family status has an impact on the identified composition of that risk. As a fraction of the total variation in liability, the estimated narrow-sense heritability exceeds 60% for ASD individuals from multiplex families and is approximately 40% for simplex families. By analyzing parents, unaffected siblings and alleles not transmitted from parents to their affected children, we conclude that the data for simplex ASD families follow the expectation for additive models closely. The data from multiplex families deviate somewhat from an additive model, possibly due to parental assortative mating. Conclusions Our results, when viewed in the context of results from genome-wide association studies, demonstrate that a myriad of common variants of very small effect impacts ASD liability.http://deepblue.lib.umich.edu/bitstream/2027.42/112370/1/13229_2012_Article_55.pd

Parent-to-parent peer support for parents of children with a disability: A mixed method study

ObjectivesThis paper will report on the findings of a study which investigated the influence of a befriending (parent-to-parent peer support) scheme on parents whose children have a disability or additional need. The scheme operated from an acute children’s tertiary setting in the UK.MethodsA prospective concurrent mixed method design collected interview (n = 70) and questionnaire (n = 68) data at two time-points from befrienders (n = 13) and befriendees (n = 26).ResultsThe main qualitative findings of the study relate to the different degrees parents (befriendees and befrienders) moved from being lost, to finding and being a guide and getting to a better place. The quantitative findings demonstrate that parent-to-parent peer support has a positive influence on parents’ levels of psychological distress and their ability to cope with being a parent of a child with a disability.ConclusionThe befriending scheme acted as a catalyst for many parents to move towards a place where they could grow and begin to flourish and thrive.Practice implicationsProfessionals should inform parents who have a child with a disability that peer-to-peer parenting support schemes are a valuable and appropriate source of support and help

Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls

We report on results from whole-exome sequencing (WES) of 1,039 subjects diagnosed with autism spectrum disorders (ASD) and 870 controls selected from the NIMH repository to be of similar ancestry to cases. The WES data came from two centers using different methods to produce sequence and to call variants from it. Therefore, an initial goal was to ensure the distribution of rare variation was similar for data from different centers. This proved straightforward by filtering called variants by fraction of missing data, read depth, and balance of alternative to reference reads. Results were evaluated using seven samples sequenced at both centers and by results from the association study. Next we addressed how the data and/or results from the centers should be combined. Gene-based analyses of association was an obvious choice, but should statistics for association be combined across centers (meta-analysis) or should data be combined and then analyzed (mega-analysis)? Because of the nature of many gene-based tests, we showed by theory and simulations that mega-analysis has better power than meta-analysis. Finally, before analyzing the data for association, we explored the impact of population structure on rare variant analysis in these data. Like other recent studies, we found evidence that population structure can confound case-control studies by the clustering of rare variants in ancestry space; yet, unlike some recent studies, for these data we found that principal component-based analyses were sufficient to control for ancestry and produce test statistics with appropriate distributions. After using a variety of gene-based tests and both meta- and mega-analysis, we found no new risk genes for ASD in this sample. Our results suggest that standard gene-based tests will require much larger samples of cases and controls before being effective for gene discovery, even for a disorder like ASD. © 2013 Liu et al

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Autism spectrum disorders (ASD) are believed to have genetic and environmental origins, yet in only a modest fraction of individuals can specific causes be identified1,2. To identify further genetic risk factors, we assess the role of de novo mutations in ASD by sequencing the exomes of ASD cases and their parents (n= 175 trios). Fewer than half of the cases (46.3%) carry a missense or nonsense de novo variant and the overall rate of mutation is only modestly higher than the expected rate. In contrast, there is significantly enriched connectivity among the proteins encoded by genes harboring de novo missense or nonsense mutations, and excess connectivity to prior ASD genes of major effect, suggesting a subset of observed events are relevant to ASD risk. The small increase in rate of de novo events, when taken together with the connections among the proteins themselves and to ASD, are consistent with an important but limited role for de novo point mutations, similar to that documented for de novo copy number variants. Genetic models incorporating these data suggest that the majority of observed de novo events are unconnected to ASD, those that do confer risk are distributed across many genes and are incompletely penetrant (i.e., not necessarily causal). Our results support polygenic models in which spontaneous coding mutations in any of a large number of genes increases risk by 5 to 20-fold. Despite the challenge posed by such models, results from de novo events and a large parallel case-control study provide strong evidence in favor of CHD8 and KATNAL2 as genuine autism risk factors

A proteome-wide protein interaction map for Campylobacter jejuni

'Systematic identification of protein interactions for the bacterium Campylobacter jejuni using high-throughput yeast two-hybrid screens detected interactions for 80% of the organism's proteins