BackgroundMaking evidence-based decisions often requires comparison of two or more options. Research-based evidence may exist which quantifies how likely the outcomes are for each option. Understanding these numeric estimates improves patients’ risk perception and leads to better informed decision making. This paper summarises current “best practices” in communication of evidence-based numeric outcomes for developers of patient decision aids (PtDAs) and other health communication tools.MethodAn expert consensus group of fourteen researchers from North America, Europe, and Australasia identified eleven main issues in risk communication. Two experts for each issue wrote a “state of the art” summary of best evidence, drawing on the PtDA, health, psychological, and broader scientific literature. In addition, commonly used terms were defined and a set of guiding principles and key messages derived from the results.ResultsThe eleven key components of risk communication were: 1) Presenting the chance an event will occur; 2) Presenting changes in numeric outcomes; 3) Outcome estimates for test and screening decisions; 4) Numeric estimates in context and with evaluative labels; 5) Conveying uncertainty; 6) Visual formats; 7) Tailoring estimates; 8) Formats for understanding outcomes over time; 9) Narrative methods for conveying the chance of an event; 10) Important skills for understanding numerical estimates; and 11) Interactive web-based formats. Guiding principles from the evidence summaries advise that risk communication formats should reflect the task required of the user, should always define a relevant reference class (i.e., denominator) over time, should aim to use a consistent format throughout documents, should avoid “1 in x” formats and variable denominators, consider the magnitude of numbers used and the possibility of format bias, and should take into account the numeracy and graph literacy of the audience.ConclusionA substantial and rapidly expanding evidence base exists for risk communication. Developers of tools to facilitate evidence-based decision making should apply these principles to improve the quality of risk communication in practice.

Type 1 diabetes (T1D) in children results from autoimmune destruction of pancreatic beta cells, leading to insufficient production of insulin. A number of genetic determinants of T1D have already been established through candidate gene studies, primarily within the major histocompatibility complex but also within other loci. To identify new genetic factors that increase the risk of T1D, we performed a genome-wide association study in a large paediatric cohort of European descent. In addition to confirming previously identified loci, we found that T1D was significantly associated with variation within a 233-kb linkage disequilibrium block on chromosome 16p13. This region contains KIAA0350, the gene product of which is predicted to be a sugar-binding, C-type lectin. Three common non-coding variants of the gene (rs2903692, rs725613 and rs17673553) in strong linkage disequilibrium reached genome-wide significance for association with T1D. A subsequent transmission disequilibrium test replication study in an independent cohort confirmed the association. These results indicate that KIAA0350 might be involved in the pathogenesis of T1D and demonstrate the utility of the genome-wide association approach in the identification of previously unsuspected genetic determinants of complex traits.

BackgroundShared decision-making (SDM) is rarely implemented in pediatric practice. Pediatric health decision-making differs from that of adult practice. Yet, little is known about the factors that influence the implementation of pediatric shared decision-making (SDM). We synthesized pediatric SDM barriers and facilitators from the perspectives of healthcare providers (HCP), parents, children, and observers (i.e., persons who evaluated the SDM process, but were not directly involved).MethodsWe conducted a systematic review guided by the Ottawa Model of Research Use (OMRU). We searched MEDLINE, EMBASE, Cochrane Library, CINAHL, PubMed, and PsycINFO (inception to March 2017) and included studies that reported clinical pediatric SDM barriers and/or facilitators from the perspective of HCPs, parents, children, and/or observers. We considered all or no comparison groups and included all study designs reporting original data. Content analysis was used to synthesize barriers and facilitators and categorized them according to the OMRU levels (i.e., decision, innovation, adopters, relational, and environment) and participant types (i.e., HCP, parents, children, and observers). We used the Mixed Methods Appraisal Tool to appraise study quality.ResultsOf 20,008 identified citations, 79 were included. At each OMRU level, the most frequent barriers were features of the options (decision), poor quality information (innovation), parent/child emotional state (adopter), power relations (relational), and insufficient time (environment). The most frequent facilitators were low stake decisions (decision), good quality information (innovation), agreement with SDM (adopter), trust and respect (relational), and SDM tools/resources (environment). Across participant types, the most frequent barriers were insufficient time (HCPs), features of the options (parents), power imbalances (children), and HCP skill for SDM (observers). The most frequent facilitators were good quality information (HCP) and agreement with SDM (parents and children). There was no consistent facilitator category for observers. Overall, study quality was moderate with quantitative studies having the highest ratings and mixed-method studies having the lowest ratings.ConclusionsNumerous diverse and interrelated factors influence SDM use in pediatric clinical practice. Our findings can be used to identify potential pediatric SDM barriers and facilitators, guide context-specific barrier and facilitator assessments, and inform interventions for implementing SDM in pediatric practice.Trial RegistrationPROSPERO CRD42015020527Electronic supplementary materialThe online version of this article (10.1186/s13012-018-0851-5) contains supplementary material, which is available to authorized users.

Hypocalcemia and hyperphosphatemia caused by parathyroid hormone (PTH)-resistance are the only discernible abnormalities in pseudohypoparathyroidism type Ib (PHPIb). Because mutations in the PTH͞PTH-related peptide receptor, a plausible candidate gene, had been excluded previously, we conducted a genome-wide search with four PHP-Ib kindreds and established linkage to a small telomeric region on chromosome 20q, which contains the stimulatory G protein gene. We, furthermore, showed that the genetic defect is imprinted paternally and thus is inherited in the same mode as the PTH-resistant hypocalcemia in kindreds with PHP-Ia and͞or pseudopseudohypoparathyroidism, two related disorders caused by different stimulatory G protein mutations.

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BackgroundChoice of insulin delivery for type 1 diabetes can be difficult for many parents and children. We evaluated decision coaching using a patient decision aid for helping youth with type 1 diabetes and parents decide about insulin delivery method.MethodsA pre/post design. Youth and parent(s) attending a pediatric diabetes clinic in a tertiary care centre were referred to the intervention by their pediatric endocrinologist or diabetes physician between September 2013 and May 2015. A decision coach guided youth and their parents in completing a patient decision aid that was pre-populated with evidence on insulin delivery options. Primary outcomes were youth and parent scores on the low literary version of the validated Decisional Conflict Scale (DCS).ResultsForty-five youth (mean age = 12.5 ± 2.9 years) and 66 parents (45.8 ± 5.6 years) participated. From pre- to post-intervention, youth and parent decisional conflict decreased significantly (youth mean DCS score was 32.0 vs 6.6, p < 0.0001; parent 37.6 vs 3.5, p < 0.0001). Youth’s and parents’ mean decisional conflict scores were also significantly improved for DCS subscales (informed, values clarity, support, and certainty). 92% of youth and 94% of parents were satisfied with the decision coaching and patient decision aid. Coaching sessions averaged 55 min. Parents (90%) reported that the session was the right length of time; some youth (16%) reported that it was too long.ConclusionDecision coaching with a patient decision aid reduced decisional conflict for youth and parents facing a decision about insulin delivery method.

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Healthcare providers can facilitate adolescent and parental decision-making about the optimal timing for SAPT introduction. Success with SAPT requires exploration of adolescent and parental expectations for SAPT as well as the degree to which parents have previously fostered their adolescent's involvement in and responsibility for diabetes management.