Peer-mentoring for first-time mothers from areas of socio-economic disadvantage: A qualitative study within a randomised controlled trial

<p>Abstract</p> <p>Background</p> <p>Non-professional involvement in delivering health and social care support in areas of socio-economic deprivation is considered important in attempting to reduce health inequalities. However, trials of peer mentoring programmes have yielded inconsistent evidence of benefit: difficulties in implementation have contributed to uncertainty regarding their efficacy. We aimed to explore difficulties encountered in conducting a randomised controlled trial of a peer-mentoring programme for first-time mothers in socially disadvantaged areas, in order to provide information relevant to future research and practice. This paper describes the experiences of lay-workers, women and health professionals involved in the trial.</p> <p>Methods</p> <p>Thematic analysis of semi-structured interviews with women (n = 11) who were offered peer mentor support, lay-workers (n = 11) who provided mentoring and midwives (n = 2) who supervised the programme, which provided support, from first hospital antenatal visit to one year postnatal. Planned frequency of contact was two-weekly (telephone or home visit) but was tailored to individuals' needs.</p> <p>Results</p> <p>Despite lay-workers living in the same locality, they experienced difficulty initiating contact with women and this affected their morale adversely. Despite researchers' attempts to ensure that the role of the mentor was understood clearly it appeared that this was not achieved for all participants. Mentors attempted to develop peer-mentor relationships by offering friendship and sharing personal experiences, which was appreciated by women. Mentors reported difficulties developing relationships with those who lacked interest in the programme. External influences, including family and friends, could prevent or facilitate mentoring. Time constraints in reconciling flexible mentoring arrangements with demands of other commitments posed major personal difficulties for lay-workers.</p> <p>Conclusion</p> <p>Difficulties in initiating contact, developing peer-mentor relationships and time constraints pose challenges to delivering lay-worker peer support. In developing such programmes, awareness of potential difficulties and of how professional support may help resolve these should improve uptake and optimise evaluation of their effectiveness.</p> <p>Trial Registration Number: ISRCTN55055030</p

Investigating concordance in diabetes diagnosis between primary care charts (electronic medical records) and health administrative data: a retrospective cohort study

<p>Abstract</p> <p>Background</p> <p>Electronic medical records contain valuable clinical information not readily available elsewhere. Accordingly, they hold important potential for contributing to and enhancing chronic disease registries with the goal of improving chronic disease management; however a standard for diagnoses of conditions such as diabetes remains to be developed. The purpose of this study was to establish a validated electronic medical record definition for diabetes.</p> <p>Methods</p> <p>We constructed a retrospective cohort using health administrative data from the Institute for Clinical Evaluative Sciences Ontario Diabetes Database linked with electronic medical records from the Deliver Primary Healthcare Information Project using data from 1 April 2006 - 31 March 2008 (N = 19,443). We systematically examined eight definitions for diabetes diagnosis, both established and proposed.</p> <p>Results</p> <p>The definition that identified the highest number of patients with diabetes (N = 2,180) while limiting to those with the highest probability of having diabetes was: individuals with ≥2 abnormal plasma glucose tests, or diabetes on the problem list, or insulin prescription, or ≥2 oral anti-diabetic agents, or HbA1c ≥6.5%. Compared to the Ontario Diabetes Database, this definition identified 13% more patients while maintaining good sensitivity (75%) and specificity (98%).</p> <p>Conclusions</p> <p>This study establishes the feasibility of developing an electronic medical record standard definition of diabetes and validates an algorithm for use in this context. While the algorithm may need to be tailored to fit available data in different electronic medical records, it contributes to the establishment of validated disease registries with the goal of enhancing research, and enabling quality improvement in clinical care and patient self-management.</p

Understanding adolescent and young adult use of family physician services: a cross-sectional analysis of the Canadian Community Health Survey

BACKGROUND: Primary health care is known to have positive effects on population health and may reduce at-risk behavior and health problems in adolescence. Yet little is known about the factors that are associated with adolescent and young adult utilization of family physician services. It is critical to determine the factors associated with utilization to inform effective primary health care policy. We address this gap in the primary health care literature by examining three issues concerning adolescent and young adult family physician use: inequity; the unique developmental stage of adolescence; and the distinction between utilization (users versus non-users) and intensity (high users versus low users). METHODS: We conducted nested logistic regressions for two outcomes: utilization and intensity of family physician services for early adolescence, middle adolescence, and young adulthood using the 2005 Canadian Community Health Survey. RESULTS: Chronic conditions were associated with utilization in early and middle adolescence and intensity in all age groups. Respondents from Quebec had lower odds of utilization. Those without a regular medical doctor had much lower odds of being users. The factors associated with use in early and middle adolescence were in keeping with parental involvement while the factors in young adulthood show the emerging independence of this group. CONCLUSIONS: We highlight key messages not known previously for adolescent and young adult use of family physician services. There is inequity concerning regional variation and for those who do not have a regular medical doctor. There is variation in factors associated with family physician services across the three age groups of adolescence. Health care and health care policies aimed at younger adolescents must consider that parents are still the primary decision-maker while older adolescents are more autonomous. There is variation in the factors associated with the two outcomes of utilization and intensity of services. Factors associated with utilization must be understood when considering the equitability of access to primary health care while factors associated with intensity must be understood when considering appropriate use of resources. The understanding gained from this study can inform health care policy that is responsive to the critical developmental stage of adolescence and young adulthood

EXACKTE2: Exploiting the clinical consultation as a knowledge transfer and exchange environment: a study protocol

Background While the evidence suggests that the way physicians provide information to patients is crucial in helping patients decide upon a course of action, the field of knowledge translation and exchange (KTE) is silent about how the physician and the patient influence each other during clinical interactions and decision-making. Consequently, based on a novel relationship-centered model, EXACKTE2 (EXploiting the clinicAl Consultation as a Knowledge Transfer and Exchange Environment), this study proposes to assess how patients and physicians influence each other in consultations. Methods We will employ a cross-sectional study design involving 300 pairs of patients and family physicians from two primary care practice-based research networks. The consultation between patient and physician will be audio-taped and transcribed. Following the consultation, patients and physicians will complete a set of questionnaires based on the EXACKTE2 model. All questionnaires will be similar for patients and physicians. These questionnaires will assess the key concepts of our proposed model based on the essential elements of shared decision-making (SDM): definition and explanation of problem; presentation of options; discussion of pros and cons; clarification of patient values and preferences; discussion of patient ability and self-efficacy; presentation of doctor knowledge and recommendation; and checking and clarifying understanding. Patients will be contacted by phone two weeks later and asked to complete questionnaires on decisional regret and quality of life. The analysis will be conducted to compare the key concepts in the EXACKTE2 model between patients and physicians. It will also allow the assessment of how patients and physicians influence each other in consultations. Discussion Our proposed model, EXACKTE2, is aimed at advancing the science of KTE based on a relationship process when decision-making has to take place. It fosters a new KTE paradigm by putting forward a relationship-centered perspective and has the potential to reveal unknown mechanisms that underline effective KTE in clinical contexts. This will result in better understanding of the mechanisms that may promote a new generation of knowledge transfer strategies

Cancer therapy and cardiotoxicity: The need of serial Doppler echocardiography

Cancer therapy has shown terrific progress leading to important reduction of morbidity and mortality of several kinds of cancer. The therapeutic management of oncologic patients includes combinations of drugs, radiation therapy and surgery. Many of these therapies produce adverse cardiovascular complications which may negatively affect both the quality of life and the prognosis. For several years the most common noninvasive method of monitoring cardiotoxicity has been represented by radionuclide ventriculography while other tests as effort EKG and stress myocardial perfusion imaging may detect ischemic complications, and 24-hour Holter monitoring unmask suspected arrhythmias. Also biomarkers such as troponine I and T and B-type natriuretic peptide may be useful for early detection of cardiotoxicity. Today, the widely used non-invasive method of monitoring cardiotoxicity of cancer therapy is, however, represented by Doppler-echocardiography which allows to identify the main forms of cardiac complications of cancer therapy: left ventricular (systolic and diastolic) dysfunction, valve heart disease, pericarditis and pericardial effusion, carotid artery lesions. Advanced ultrasound tools, as Integrated Backscatter and Tissue Doppler, but also simple ultrasound detection of "lung comet" on the anterior and lateral chest can be helpful for early, subclinical diagnosis of cardiac involvement. Serial Doppler echocardiographic evaluation has to be encouraged in the oncologic patients, before, during and even late after therapy completion. This is crucial when using anthracyclines, which have early but, most importantly, late, cumulative cardiac toxicity. The echocardiographic monitoring appears even indispensable after radiation therapy, whose detrimental effects may appear several years after the end of irradiation

Prevalence and architecture of de novo mutations in developmental disorders.

The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here we have sequenced the exomes of 4,293 families containing individuals with developmental disorders, and meta-analysed these data with data from another 3,287 individuals with similar disorders. We show that the most important factors influencing the diagnostic yield of DNMs are the sex of the affected individual, the relatedness of their parents, whether close relatives are affected and the parental ages. We identified 94 genes enriched in damaging DNMs, including 14 that previously lacked compelling evidence of involvement in developmental disorders. We have also characterized the phenotypic diversity among these disorders. We estimate that 42% of our cohort carry pathogenic DNMs in coding sequences; approximately half of these DNMs disrupt gene function and the remainder result in altered protein function. We estimate that developmental disorders caused by DNMs have an average prevalence of 1 in 213 to 1 in 448 births, depending on parental age. Given current global demographics, this equates to almost 400,000 children born per year

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four individuals with chromosome 7q22.2-22.23 microdeletions encompassing KMT2E (one previously reported). Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. One-quarter of individuals met criteria for autism. Additional common features include macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. More than 70% of the individuals were male, and expressivity was variable by sex; epilepsy was more common in females and autism more common in males. The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. The group of four individuals with missense variants in KMT2E presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E might explain this divergence in phenotype, but requires independent validation. Disruptive variants in KMT2E are an under-recognized cause of neurodevelopmental abnormalities

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. All affected individuals presented with epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder. Additional neurological features included postnatal microcephaly and hypotonia. Five children died in childhood or adolescence (mean age of death: 9 years), mainly as a result of secondary respiratory complications. CACNA1B encodes the pore-forming subunit of the pre-synaptic neuronal voltage-gated calcium channel Cav2.2/N-type, crucial for SNARE-mediated neurotransmission, particularly in the early postnatal period. Bi-allelic loss-of-function variants in CACNA1B are predicted to cause disruption of Ca2+ influx, leading to impaired synaptic neurotransmission. The resultant effect on neuronal function is likely to be important in the development of involuntary movements and epilepsy. Overall, our findings provide further evidence for the key role of Cav2.2 in normal human neurodevelopment.MAK is funded by an NIHR Research Professorship and receives funding from the Wellcome Trust, Great Ormond Street Children's Hospital Charity, and Rosetrees Trust. E.M. received funding from the Rosetrees Trust (CD-A53) and Great Ormond Street Hospital Children's Charity. K.G. received funding from Temple Street Foundation. A.M. is funded by Great Ormond Street Hospital, the National Institute for Health Research (NIHR), and Biomedical Research Centre. F.L.R. and D.G. are funded by Cambridge Biomedical Research Centre. K.C. and A.S.J. are funded by NIHR Bioresource for Rare Diseases. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). We acknowledge support from the UK Department of Health via the NIHR comprehensive Biomedical Research Centre award to Guy's and St. Thomas' National Health Service (NHS) Foundation Trust in partnership with King's College London. This research was also supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. J.H.C. is in receipt of an NIHR Senior Investigator Award. The research team acknowledges the support of the NIHR through the Comprehensive Clinical Research Network. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, Department of Health, or Wellcome Trust. E.R.M. acknowledges support from NIHR Cambridge Biomedical Research Centre, an NIHR Senior Investigator Award, and the University of Cambridge has received salary support in respect of E.R.M. from the NHS in the East of England through the Clinical Academic Reserve. I.E.S. is supported by the National Health and Medical Research Council of Australia (Program Grant and Practitioner Fellowship)