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This consensus document is endorsed by The Queen's Nursing Institute (QNI) and The Queen's Nursing Institute Scotland (QNIS).

Dynamic, relational developmental systems-based models of development emphasize that developmentally-nurturant youth-adult relationships elicit in youth perceptions of being known and loved. Although such perceptions are foundations of positive youth development (PYD), such measures do not exist.We sought to create a theoretically-predicated measure of youth perceptions of being known and loved by capitalizing on data sets in two countries (Rwanda and El Salvador) wherein a multi-national study of PYD was being conducted by Compassion International (CI).With Rwanda data (Robust psychometric properties were established in both national settings. Measurement invariance was found across age, gender, urban-rural location, CI-enrollment status, and nations, and involved both mean differences and correlations among latent factors.The results provide evidence for a theory-predicated measure of youth perceptions of being known and loved and that scores for this construct covary within a nomological net specified in the Lerner and Lerner model of PYD. These findings serve international development organizations seeking theory-predicated measures for use in evaluating PYD programs in low- and middle-income countries.The online version contains supplementary material available at 10.1007/s10566-022-09725-6.

Facioscapulohumeral dystrophy (FSHD) is commonly associated with contraction of D4Z4 repeats on chromosome 4q (FSHD1). Mutations in theSMCHD1gene are linked to both minor cases with no prominent repeat loss (FSHD2) and severe cases of FSHD1. Abnormal upregulation of the transcription factor DUX4, encoded in theD4Z4repeat, is believed to play a central role in FSHD. However, defining the disease mechanism has been hampered by the heterogeneity of patient-derived cells, difficulty to detect DUX4 in patient myocytes, and limited animal models because D4Z4 repeats are primate-specific. To overcome these limitations, we engineered isogenic human skeletal myoblast lines with D4Z4 and/orSMCHD1mutations. We found a highly synergistic effect of double mutations on triggering two key disease processes, D4Z4 heterochromatin disruption and cross-stimulation of DUX4 targets, such as histone H3.X/Y and LEUTX transcription factor. Thus, engineered human myocyte models provide unique insights into the molecular mechanisms underpinning FSHD.TeaserFSHD mutations cause D4Z4 heterochromatin disruption and feedforward DUX4 network activation.

Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare neurological condition, associated with a wide range of symptoms and functional issues, such as profound motor impairment and learning disability. Most individuals with AADC deficiency are completely dependent on their caregivers. This study explored the impact of caring for an individual with AADC deficiency.Qualitative interviews were conducted with caregivers of individuals with AADC deficiency in Italy, Portugal, Spain and the United States. An interview guide was developed with input from clinical experts and caregivers and included questions on the impact of caring for an individual with AADC deficiency. Interviews were conducted by telephone/videoconference and were recorded and transcribed. Data were analysed using thematic analysis.Fourteen caregivers took part who provided care to 13 individuals with AADC deficiency aged 1-15 years. Caregivers reported that their lives centred around the individual with AADC deficiency, due to their need for 24-hour care and regular healthcare appointments. They reported both proximal impacts (impact on time, planning, physical health and emotional wellbeing), and distal impacts (impact on social/leisure activities, relationships, work and finances). These concepts and relationships were illustrated in a conceptual model.This is the first qualitative study to report on the experience of caring for an individual with AADC deficiency. Caregivers reported that caring had a substantial multifaceted impact on their lives. These findings highlight the importance of considering the caregiver experience when evaluating the burden of AADC deficiency.

Academics undertaking public policy research are committed to tackling interesting questions driven by curiosity, but they generally also want their research to have an impact on government, service delivery, or public debate. Yet our ability to capture the impact of this research is limited because impact is under-theorised, and current systems of research impact evaluation do not allow for multiple or changing research goals. This article develops a conceptual framework for understanding, measuring, and encouraging research impact for those who seek to produce research that speaks to multiple audiences. The framework brings together message, medium, audience, engagement, impact, evaluation, and affordance within the logics of different fields. It sets out a new way of considering research goals, measurements, and incentives in an integrated way. By accounting for the logics of different fields, which encompass disciplinary, institutional, and intrinsic factors, the framework provides a new way of harnessing measurements and incentives towards fruitful learning about the contribution diverse types of public policy research can make to wider impact.

Programs effective in promoting positive youth development (PYD) involve curricular features termed the Big Three: Positive and sustained adult–youth relationships; life-skill-building activities; and youth contribution and leadership opportunities. Data from 610 adolescents (50% female; Mage= 16.39 years, SD = 1.83) enrolled in Compassion International-supported programs in El Salvador indicated that scores derived from a youth-report measure of the Big Three, established using data from Rwanda, manifested strong invariance and predicted both youth strengths and contribution. Qualitative interviews with 18 youth from these programs indicated that the Big Three were seen as present and enhancing their positive development. We discuss how future research using a quantitative–qualitative approach may provide deeper evidence about the practical application and promotion of PYD in youth programs.

Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare neurological condition, with an estimated global prevalence of 1:32,000 to 1:90,000 live births. AADC deficiency is associated with a range of symptoms and functional impairments, but these have not previously been explored qualitatively. This study aimed to understand the symptoms of AADC deficiency and its impact on individuals' health-related quality of life.Qualitative interviews were conducted with caregivers of individuals with AADC deficiency in Italy, Spain, Portugal and the United States. An interview guide was developed with input from clinical experts and caregivers, and explored the symptoms and impacts of AADC deficiency. Interviews were conducted by telephone and were recorded and transcribed. Data were analysed using thematic analysis and saturation was recorded.Fourteen caregivers took part, who provided care to 13 individuals with AADC deficiency aged 1-15 years. All individuals had impaired motor function, which was attributed to low muscle tone and muscle weakness. The level of motor function varied considerably, ranging from no motor function (no head control) to being able to take a few steps without support. Other impairments included cognitive impairment, communication difficulties, movement disorders (e.g. oculogyric crises), gastrointestinal symptoms, eating difficulties, fatigue and sleep disruption. Most individuals were completely dependent on their caregivers for all aspects of their lives. This limited function had a negative impact on their ability to socialise with their peers and on their emotional wellbeing. These concepts and relationships are illustrated in a conceptual model, and moderating factors (e.g. physiotherapy and medication) are discussed.This is the first qualitative study to report on the experience of living with AADC deficiency. Caregivers report individuals with AADC deficiency experience a wide range of symptoms and functional impairments, which have a substantial impact on their health-related quality of life.

Abstract. Background: In July 2018, Lifeline Australia launched Australia's first short message service (SMS) crisis support service. Lifeline Text aims to reduce psychological distress and increase coping and social connectedness among help seekers, particularly those who prefer text-based communication. Aims: We aimed to independently evaluate the pilot SMS service over a 240-day period. Method: The service evaluation used operational data, pre and postconversation automated questions, and an online survey to assess outcomes. Results: There were 7,315 contacts during operational hours, of which 5,266 progressed to the queue and 99.2% were answered. Suicide was actively being considered by 1,554 help seekers, and 171 were assessed at imminent risk. Commonly discussed topics were mental health problems, issues relating to the self and identity, and family relationship difficulties. Limitations: This was an evaluation of a pilot service focusing on demand and short-term outcomes. Conclusion: The service succeeded in reaching some under-served groups. On average, help seekers were significantly less distressed, felt more confident in their ability to cope and felt greater connection to others, following the text intervention. The demand for Lifeline Text and the high level of suicidality of help seekers show it is meeting urgent needs in the community.

Objectives A combination of negatively biased information processing and a reduced ability to experience positive emotions can persist into remission from major depression (rMDD). Studies have shown that mindfulness-based cognitive therapy (MBCT) can increase self-reported positive emotions in rMDD participants; similar changes using neuropsychological tasks have not been shown. In this study, we investigated neuropsychological change in emotional processing following MBCT in rMDD participants. Methods Seventy-three rMDD participants, 40 of whom received MBCT and 33 of whom continued with treatment as usual (TAU), and 42 never depressed participants took part; neither the TAU nor never depressed participants received MBCT. All were assessed at baseline and immediately following MBCT or after an 8-week gap for those without active intervention. Participants completed emotion evaluation and face emotion recognition tasks with self-report measures (mood, mindfulness) at each session. Results Results showed an MBCT-specific shift in ratings from less negative to more positive emotion evaluations, which correlated with mindfulness practice and self-report mindfulness change. Both the MBCT and TAU groups showed a small increase in overall face emotion recognition accuracy compared with no change in never depressed participants. Conclusions These findings support a specific role for MBCT in encouraging more positive evaluations of life situations in those with previous depression rather than influencing lower-level processing of emotions. Results should be interpreted cautiously given that this was a non-randomised, preference choice trial. Trial Registration NCT02226042

Georgina L Jones,1 Kate Williams,2 Mark Edmondson-Jones,2 Johan Prevot,3 Jose Drabwell,3 Leire Solis,3 Anna Shrimpton,4 Nizar Mahlaoui5– 7 1Department of Psychology, School of Social Sciences, Leeds Beckett University, Leeds, UK; 2PAREXEL International, London, UK; 3International Patient Organisation for Primary Immunodeficiencies, Downderry, Cornwall PL11 3LY, UK; 4Clinical Immunology and Allergy Unit, Northern General Hospital, Sheffield Teaching Hospitals and NHS Foundation Trust, Sheffield, UK; 5French National Reference Center for Primary Immune Deficiencies (CEREDIH), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux De Paris, Paris, France; 6Pediatric Immuno-Haematology and Rheumatology Unit, Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux De Paris, Paris, France; 7IPOPI Medical Advisory Board, ChairCorrespondence: Georgina L JonesDepartment of Psychology, School of Social Sciences, Leeds Beckett University, Calverley Building, City Campus, Leeds, UKTel +44 113 8125106Email g.l.jones@leedsbeckett.ac.ukPurpose: To describe the development and psychometric testing of a new questionnaire to measure the burden of immunoglobulin treatment (Ig) from the perspective of patients with primary immunodeficiencies (PID).Patients and Methods: An online, cross-sectional survey was administered to PID patients across 10 countries (nine European and Canada) who were receiving either intravenous (IVIg) or subcutaneous (SCIg) immunoglobulin therapy. The range and distribution of the responses (ie, levels of missing data, floor and ceiling effects), exploratory factor analysis (using factor loadings of 0.4 or greater) and measures of internal consistency reliability (ie, Cronbach’s alpha coefficient, inter-item and item-total correlations) were used to identify the domain and item pool.Results: In total, 472 patients completed the questionnaire, of which 395 were included in the analysis (32% underwent IVIg and 67% underwent SCIg). The final instrument contained 34 items across eight domains of treatment burden (time, organisation and planning, leisure and social, interpersonal relationships, employment and education, travel, consequences of treatment and emotional) and an additional Ig treatment burden global question at the end of the measure. All the scales achieved good internal reliability (Cronbach’s alpha coefficient ranged from 0.70 to 0.85) and, with the exception of one item exceeded the minimum threshold of 0.35 for item-total correlations. Treatment burden was lower than anticipated across the different treatment routes and countries, although overall was more burdensome for patients undergoing IVIg compared to SCIg treatment.Conclusion: The IgBoT-35 appears to be a reliable, patient-generated questionnaire and may help to identify more individualised and preferred therapies for the PID patient when used in clinical practice. A new survey with a sample of US patients is currently being undertaken to further establish its validity and conceptual model. The overall Ig burden of treatment scores appeared to be low. PID patient preferences are important to guide treatment decisions and ensuring patients receive the right treatment at the right time.Keywords: intravenous immunoglobulins, subcutaneous immunoglobulins, primary immunodeficiency, treatment burden, patient preference, quality of life