RESUMEN
BACKGROUND: Recovery Colleges (RCs) represent an approach to enhancing mental wellbeing through education, lived experience and co-production. Despite their increasing presence, scant literature explores the operationalisation of RCs and their embodiment of co-production principles. The aim of this scoping review was to investigate the operationalisation of RCs and their application of co-production in RCs located in high-income countries over the past decade. METHODS: Employing an established scoping review methodology, searches were conducted across seven academic databases. Ten primary studies met the inclusion criteria. In addition, stakeholders were consulted to validate themes and uncover knowledge gaps. RESULTS: Findings suggest that RCs are inherently idiosyncratic, adapted to suit local contexts. Discussions persist regarding their optimal institutional contexts and positioning and the interpretation of key terms such as 'recovery' and 'co-production', influencing daily operations and stakeholder involvement. Challenges surrounding measuring success against fidelity criteria underscore the need for a broader understanding of RC value and sustainability. CONCLUSION: This review offers a synopsis of the existing literature offering insights concerning the operationalisation of RCs. Through a synthesis of diverse primary studies, it systematically identifies and describes the operational nuances within the RC landscape and the fundamental elements underpinning RC operations, while shedding light on critical knowledge gaps in both research and practice. SO WHAT?: This review underscores the importance of a broader understanding of RC value and sustainability, offering insights for both research and practice in the field of mental health and wellbeing. This review highlights the significance of further exploration and refinement of RC operationalisation to enhance their effectiveness and impact in supporting mental wellbeing.
RESUMEN
BACKGROUND: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) is a rare autosomal dominant disorder with variable expressivity. It is characterized by mild-to-severe microcephaly, often associated with intellectual disability, ocular defects and lymphedema. It can be sporadic or inherited. Eighty-seven patients have been described to carry a mutation in KIF11, which encodes a homotetrameric motor kinesin, EG5. METHODS: We tested 23 unreported MCLMR index patients for KIF11. We also reviewed the clinical phenotypes of all our patients as well as of those described in previously published studies. RESULTS: We identified 14 mutations, 12 of which are novel. We detected mutations in 12 affected individuals, from 6 out of 6 familial cases, and in 8 out of 17 sporadic patients. Phenotypic evaluation of patients (our 26 + 61 earlier published = 87) revealed microcephaly in 91%, eye anomalies in 72%, intellectual disability in 67% and lymphedema in 47% of the patients. Unaffected carriers were rare (4 out of 87: 5%). Family history is not a requisite for diagnosis; 31% (16 out of 52) were de novo cases. CONCLUSIONS: All inherited cases, and 50% of sporadic cases of MCLMR are due to germline KIF11 mutations. It is possible that mosaic KIF11 mutations cause the remainder of sporadic cases, which the methods employed here were not designed to detect. On the other hand, some of them might have another mimicking disorder and genetic defect, as microcephaly is highly heterogeneous. In aggregate, KIF11 mutations likely cause the majority, if not all, of MCLMR.