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There is limited empirical evidence on the best types of intervention to assist Allied Health Professionals address hand dysfunction for children and adolescents with Heritable Disorders of Connective Tissue. Clinicians may rely on non-peer reviewed sources of information to inspire and guide their treatment. A scoping review methodology will be used to explore the range and quality of available evidence of interventions to inform the conservative management of hand dysfunction for children and adolescents with Heritable Disorders of Connective Tissue.

Additional file 1. Search strategy: key words and the methods used for literature search.

Additional file 2. The questions and strategies for assessing risk of bias.

Additional file 5:. Intra-rater reliability of methods of capturing foot morphology presented as ICCs.

Additional file 1:. Medline keyword list.

Supplemental material, sj-pdf-1-otj-10.1177_15394492211004844 for Everyday Life Participation Using Powered Wheelchair Standing Devices by Boys With DMD by Helena Young, Paula Bray, Kausik McKinnon, Joshua Burns and Anita Bundy in OTJR: Occupation, Participation and Health

Additional file 2:. Variations in data provided by each study.

Additional file 4:. Inter-rater reliability of methods of capturing foot morphology presented as ICCs.

Additional file 3:. Assessment of the methodological quality for each study following the COSMIN checklist.

This thesis was scanned from the print manuscript for digital preservation and is copyright the author. Researchers can access this thesis by asking their local university, institution or public library to make a request on their behalf. Monash staff and postgraduate students can use the link in the References field.

In the age of digital production and transformation, Labs are one of the most significant and disruptive influences on organisations such as Galleries, Libraries, Archives and Museums (GLAMs). All over the world, cultural heritage institutions are witnessing the value and dynamism Labs bring to their collections, making them more accessible, used, shared and enjoyed by their users, embracing innovation, development, experimentation, new ideas through disruptive thinking, and generating opportunities. Labs are living, progressive and transformational. They push boundaries, open up new perspectives, create content and encourage engagement with communities.This poster will present a new book on GLAM Labs. The book is a collective outcome with contributions from 16 people from 14 cultural heritage organisations and universities around the world. The themes reflected in this book, such as being open to experimentation, risk-taking, iteration and innovation, also capture the methodology of the book, which was written in a collective process during five days.The book describes what an Innovation Lab is in the GLAM context, what an Innovation Lab is for, and, how to make one happen. The book addresses characteristics, aims and objectives, processes and prospects, tools and services, as well as legal, financial and operational issues. Significantly, the book addresses how libraries, archives, museums, heritage institutions and users can operate and benefit from Innovation Labs.More specifically, the following themes are covered in the book:Introducing GLAM LabsA Galleries, Libraries, Archives and Museums (GLAM) Lab is a place for experimenting with digital collections and data. It is where researchers, artists, entrepreneurs, educators and the interested public can collaborate with an engaged group of partners to create new collections, tools, and services that will help transform the future ways in which knowledge and culture are disseminated. The exchange and experimentation in a Lab are open, iterative and shared widely.Building a GLAM LabBuilding a GLAM Lab involves defining its core values to guide future work, fostering a culture that is open, transparent, generous, collaborative, creative, inclusive, bold, ethical, accessible and encourages a mindset of exploration. The Lab should be grounded in user-centred and participatory design processes and its staff should be able to clearly communicate what the Lab is about. It's important to think big but start small and establish quick wins to get up and running. This chapter describes why and how to open a GLAM Lab and encourages participation in a movement that can transform organisations and the communities they partner with.GLAM Lab teamsThere are recommendations for the qualities and skills to look for in Labs teams, how to go about finding allies within and outside the institution, and ideas on how to create a nurturing environment for teams to thrive in. Labs teams have no optimal size or composition, and its team members can come from all walks of life. Teams need a healthy culture to ensure a well-functioning Lab which might be augmented intermittently by fellows, interns or researchers-in-residence. For a Lab to have lasting impact it must be integrated into the parent organisation and have the support of staff at all levels.User communitiesGLAM Labs will need to engage and connect with potential users and partners. This means rethinking these relationships to help establish clear and targeted messages for specific communities. In turn, this enables Labs to adjust their tools, services and collections to establish deeper partnerships based on co-creation, and open and equal dialogue.Rethinking collections and DataThis chapter discusses the digital collections which are an integral part of Labs. It provides insights on how to share the collections as data, and how to identify, assess, describe, access, and reuse the collections. In addition, there is information about messy and curated data, digitisation, metadata, rights and preservation.TransformationExperimentation is the core of the Lab's process. Insights about how to transform tools to operational services are demonstrated. It shows that experimentation can prepare the organisational culture and services for transformation. There is an examination of funding and the advantages and disadvantages of various models through discussion of the different mechanisms and options that an organisation can apply to Lab set-ups.Funding and SustainabilityThis chapter provides insights on how to plan for a Lab's sustainability as well as a step-by-step guide for when an organisation is retiring or decommissioning a Lab.Curious? Come and see our poster or get involved!

Purpose: Inherited axonopathies (IA) are rare, clinically and genetically heterogeneous diseases that lead to length-dependent degeneration of the long axons in central (hereditary spastic paraplegia (HSP)) and peripheral (Charcot-Marie-Tooth type 2 (CMT2)) nervous systems. Mendelian high-penetrance alleles in over one hundred different genes have been shown to cause IA; yet, about 50% of IA cases do not receive a genetic diagnosis. A more comprehensive spectrum of causative genes and alleles is warranted, including causative and risk alleles, as well as oligogenic multilocus inheritance. Methods: Through international collaboration, IA exome studies are beginning to be sufficiently powered to perform a pilot rare variant burden analysis. After extensive quality control, our cohort contained 343 CMT cases, 515 HSP cases, and 935 non-neurological controls. We assessed the cumulative mutational burden across disease genes, explored the evidence for multilocus inheritance, and performed an exome-wide rare variant burden analysis. Results: We replicated the previously described mutational burden in a much larger cohort of CMT cases, and observed the same effect in HSP cases. We identified a preliminary risk allele for CMT in the EXOC4 gene (p-value= 6.9×10−6, OR=2.1) and explored the possibility of multi-locus inheritance in IA. Conclusions: Our results support the continuing emergence of complex inheritance mechanisms in historically Mendelian disorders.

Defining a GLAM Lab: A Galleries, Libraries, Archives and Museums (GLAM) Lab is a place for experimenting with digital collections and data. It is where researchers, artists, entrepreneurs, educators and the interested public can collaborate with an engaged group of partners to create new collections, tools, and services that will help transform the future ways in which knowledge and culture are disseminated. The exchanges and experimentation in a Lab are open, iterative and shared widely. This book describes why and how to open a GLAM Lab and encourages participation in a movement that can transform organisations and the communities they partner with. Building a GLAM Lab: Building a GLAM Lab involves defining its core values to guide future work, fostering a culture that is open, transparent, generous, collaborative, creative, inclusive, bold, ethical, accessible and encourages a mindset of exploration. The Lab should be grounded in user-centred and participatory design processes and its staff should be able to clearly communicate what the Lab is about. It's important to think big but start small and establish quick wins to get up and running. GLAM Lab teams: There are recommendations for the qualities and skills to look for in Labs teams, how to go about finding allies within and outside the institution, and ideas on how to create a nurturing environment for teams to thrive in. Labs teams have no optimal size or composition, and its team members can come from all walks of life. Teams need a healthy culture to ensure a well-functioning Lab which might be augmented intermittently by fellows, interns or researchers-inresidence. For a Lab to have lasting impact it must be integrated into the parent organisation and have the support of staff at all levels. User communities: GLAM Labs will need to engage and connect with potential users and partners. This means rethinking these relationships to help establish clear and targeted messages for specific communities. In turn, this enables Labs to adjust their tools, services and collections to establish deeper partnerships based on co-creation, and open and equal dialogue. Rethinking collections and Data: The book discusses the digital collections which are an integral part of Labs. It provides insights on how to share the collections as data, and how to identify, assess, describe, access, and reuse the collections. In addition, there is information about messy and curated data, digitisation, metadata, rights and preservation. Transformation: Experimentation is the critical core of the Lab's process. Insights about how to transform tools into operational services are demonstrated. It shows that experimentation can prepare the organisational culture and services for transformation. There is an examination of funding and the advantages and disadvantages of various models through discussion of the different mechanisms and options that an organisation can apply to Lab set-ups. Funding and Sustainability: We share insights on how to plan for a Lab's sustainability as well as a step-by-step guide for when an organisation is retiring or decommissioning a Lab. Labs have a pivotal role in the transformation of GLAMs and the book highlights the critical importance of Labs in changing the future of digital cultural heritage. Funded by UCL Qatar (Mmember of Qatar Foundation) and Qatar University Library. There has also been support from the British Library Labs, and the Library of Congress Labs.