Child participation in triadic medical consultations:A scoping review and summary of promotive interventions

OBJECTIVES: To promote patient centered care, children with health issues should be supported to participate in consultations with health care professionals. We aimed to summarize, in a scoping review, the evidence on child participation in triadic encounters and its promotive interventions.METHODS: Two researchers systematically searched four major databases, and included studies on child participation in medical consultations. A synthesis of quantitative and qualitative data was made.RESULTS: Of 1678 retrieved records, 39 papers were included: 22 quantitative, 14 qualitative and 3 mixed-methods studies. Child participation, measured by utterances, turns or speech time, ranged between 4% and 14%. Participation increased with age. Equidistant seating arrangements, child-directed gaze and finding the appropriate tone of voice by the physician promoted child participation. Despite all facilitative efforts of doctors and parents, such as social talk, eHealth tools or consultation education, no increase in child participation was observed over the last 50 years.CONCLUSIONS: Children continue to participate only marginally in medical consultations, despite their desire to be involved in various aspects of the clinical encounter and their right to have their voice heard.PRACTICE IMPLICATIONS: Health care professionals should provide more opportunities for children to participate in triadic medical encounters and create an inclusive environment.</p

Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome

BACKGROUND: Primary hyperoxaluria type 1 (PH1) is a phenotypically heterogeneous disease. To date the relationship between biochemical parameters and outcome is unclear. We therefore undertook a national cohort study on biochemical and clinical parameters and outcome in PH1. METHODS: Review of medical charts of all Dutch PH1 patients, who were identified by sending questionnaires to all Dutch nephrologists for children and adults. RESULTS: Fifty-seven patients were identified. The prevalence and incidence rates were 2.9/10(6) and 0.15/10(6)/year, respectively. Median age at diagnosis was 7.3 years (range 0-57). Seventeen (30%) patients were older than 18 years at time of diagnosis, of whom 10 (59%) presented with end-stage renal disease (ESRD), in contrast to only nine (23%) of those aged under 18 years. Median age at initial symptoms was 6.0 years (range 0-50). In four of nine patients with infantile PH1, normal renal function was preserved after a median follow-up of 7.7 years (range 0.1-16). Progression to renal insufficiency was associated with the presence of nephrocalcinosis, as assessed by ultrasound (relative risk=1.8; 95% CI, 1.0-3.4) and with pyridoxine-unresponsiveness (relative risk=2.2; 95% CI, 1.1-4.2) but not with age at presentation, the extent of hyperoxaluria, or AGT activity. No apparent nephrocalcinosis was found in five of the 19 patients who presented with ESRD. CONCLUSIONS: Although more than one-half of the PH1 patients have symptoms under the age of 10 years, PH1 can present at any age. In adults, PH1 presents predominantly with ESRD, which may be due to misinterpretation of early symptoms. Although nephrocalcinosis is correlated with development of renal insufficiency, the latter can occur even in the absence of nephrocalcinosis. Pyridoxine sensitivity is associated with better outcome in PH

Clinical implications of mutation analysis in primary hyperoxaluria type 1

BACKGROUND: Primary hyperoxaluria type 1 (PH1) is an inborn error of glyoxylate metabolism with an extensive clinical and genetic heterogeneity. Although over 50 disease-causing mutations have been identified, the relationship between genotype and clinical outcome remains unclear. The aim of this study was to determine this association in order to find clues for improvement of patient care. METHODS: AGXT mutation analysis and assessment of biochemical characteristics and clinical outcome were performed on patients from a Dutch PH1 cohort. RESULTS: Thirty-three of a cohort of 57 PH1 patients, identified in The Netherlands over a period of 30 years, were analyzed. Ten different mutations were found. The most common mutations were the Gly170Arg, Phe152Ile, and the 33insC mutations, with an allele frequency of 43%, 19%, and 15%, respectively. Homozygous Gly170Arg and Phe152Ile mutations were associated with pyridoxine responsiveness and a preserved renal function over time when treatment was timely initiated. All patients homozygous for the 33insC mutation had end-stage renal disease (ESRD) before the first year of age. In two unrelated patients, a new Val336Asp mutation was found coupled with the Gly170Arg mutation on the minor allele. We also found 3 patients homozygous for a novel Gly82Arg mutation with adverse outcome in 2 of them. CONCLUSION: Early detection of Gly170Arg and Phe152Ile mutations in PH1 has important clinical implications because of their association with pyridoxine responsiveness and clinical outcome. The association of a homozygous 33insC mutation with severe infantile ESRD, resulting in early deaths in 2 out of 3 cases, warrants a choice for prenatal diagnostics in affected familie

Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type

Primary hyperoxaluria type 1 displays a heterogeneous phenotype, likely to be affected by genetic and non-genetic factors, including timeliness of diagnosis and quality of care. As previous genotype-phenotype studies were hampered by limited patient numbers the European OxalEurope Consortium was constituted. This preliminary retrospective report is based on 526 patients of which 410 have the AGXT genotype defined. We grouped mutations by the predicted effect as null, missense leading to mistargeting (G170R), and other missense, and analyzed their phenotypic correlations. Median age of end-stage renal disease increased from 9.9 for 88 homozygous null patients, 11.5 for 42 heterozygous null/missense, 16.9 for 116 homozygous missense patients, 25.1 for 61 G170R/null patients, 31.2 for 32 G170R/missense patients, and 33.9 years for 71 homozygous G170R patients. The outcome of some recurrent missense mutations (p.I244T, p.F152I, p.M195R, p.D201E, p.S81L, p.R36C) and an unprecedented number of G170R homozygotes is described in detail. Diagnosis is still delayed and actions aimed at increasing awareness of primary hyperoxaluria type 1 are recommended. Thus, in addition to G170R, other causative mutations are associated with later onset of end-stage renal disease. The OxalEurope registry will provide necessary tools for characterizing those genetic and non-genetic factors through a combination of genetic, functional, and biostatistical approaches

Correction: Development of a standard set of PROs and generic PROMs for Dutch medical specialist care: Recommendations from the Outcome-Based Healthcare Program Working Group Generic PROMs (Quality of Life Research, (2023), 10.1007/s11136-022-03328-3)

In the original publication, one of the co-author names was mistakenly misspelled as "Jan Hazelet" instead of "Jan Hazelzet". It is updated in this correction

Development of a standard set of PROs and generic PROMs for Dutch medical specialist care: Recommendations from the Outcome-Based Healthcare Program Working Group Generic PROMs

Purpose: The added value of measuring patient-reported outcomes (PROs) for delivering patient-centered care and assessment of healthcare quality is increasingly evident. However, healthcare system wide data collection initiatives are hampered by the proliferation of patient-reported outcome measures (PROMs) and conflicting data collection standards. As part of a national initiative of the Dutch Ministry of Health, Welfare and Sport we developed a consensus-based standard set of generic PROs and PROMs to be implemented across Dutch medical specialist care. Methods: A working group of mandated representatives of umbrella organizations involved in Dutch medical specialist care, together with PROM experts and patient organizations worked through a structured, consensus-driven co-creation process. This included literature reviews, online expert and working group meetings, and feedback from national patient- and umbrella organizations. The ‘PROM-cycle’ methodology was used to select feasible, valid, and reliable PROMs to obtain domain scores for each of the PROs included in the set. Results: Eight PROs across different domains of health were ultimately endorsed: symptoms (pain & fatigue), functioning (physical, social/participation, mental [anxiety & depression]), and overarching (quality of life & perceived overall health). A limited number of generic PROMs was endorsed. PROMIS short forms were selected as the preferred instruments for all PROs. Several recommendations were formulated to facilitate healthcare system level adoption and implementation of the standard set. Conclusions: We developed a consensus-based standard set of Generic PROMs and a set of recommendations to facilitate healthcare system wide implementation across Dutch medical specialist care

Development of a standard set of PROs and generic PROMs for Dutch medical specialist care: Recommendations from the Outcome-Based Healthcare Program Working Group Generic PROMs

Purpose: The added value of measuring patient-reported outcomes (PROs) for delivering patient-centered care and assessment of healthcare quality is increasingly evident. However, healthcare system wide data collection initiatives are hampered by the proliferation of patient-reported outcome measures (PROMs) and conflicting data collection standards. As part of a national initiative of the Dutch Ministry of Health, Welfare and Sport we developed a consensus-based standard set of generic PROs and PROMs to be implemented across Dutch medical specialist care. Methods: A working group of mandated representatives of umbrella organizations involved in Dutch medical specialist care, together with PROM experts and patient organizations worked through a structured, consensus-driven co-creation process. This included literature reviews, online expert and working group meetings, and feedback from national patient- and umbrella organizations. The ‘PROM-cycle’ methodology was used to select feasible, valid, and reliable PROMs to obtain domain scores for each of the PROs included in the set. Results: Eight PROs across different domains of health were ultimately endorsed: symptoms (pain & fatigue), functioning (physical, social/participation, mental [anxiety & depression]), and overarching (quality of life & perceived overall health). A limited number of generic PROMs was endorsed. PROMIS short forms were selected as the preferred instruments for all PROs. Several recommendations were formulated to facilitate healthcare system level adoption and implementation of the standard set. Conclusions: We developed a consensus-based standard set of Generic PROMs and a set of recommendations to facilitate healthcare system wide implementation across Dutch medical specialist care