TY - JOUR
T1 - Empowering Families Through Technology
T2 - A Mobile-Health Project to Reduce the TAND Identification and Treatment Gap (TANDem)
AU - Heunis, Tosca-Marie
AU - Bissell, Stacey
AU - Byars, Anna W.
AU - Capal, Jamie K.
AU - Chambers, Nola
AU - Cukier, Sebastián
AU - Davis, Peter E.
AU - de Waele, Liesbeth
AU - Flinn, Jennifer
AU - Gardner-Lubbe, Sugnet
AU - Gipson, Tanjala
AU - Kingswood, J. Christopher
AU - Krueger, Darcy A.
AU - Kumm, Aubrey J.
AU - Sahin, Mustafa
AU - Schoeters, Eva
AU - Smith, Catherine
AU - Srivastava, Shoba
AU - Takei, Megumi
AU - Vanclooster, Stephanie
AU - van Eeghen, Agnies M.
AU - Waltereit, Robert
AU - Jansen, Anna C.
AU - de Vries, Petrus J.
N1 - Funding Information: This work was funded by a grant from the King Baudouin Foundation Fund Dr. & Mrs. Charles Tournay-Dubisson to PJdV and ACJ (2019-J1120010-213544) and supplemental funding from the Tuberous Sclerosis Association (UK) (2019-P03). Funding Information: Dena Hook and Vicky Whittemore were members of the TAND consortium during year 1 of the project. We thank them for their contributions to the project. We also acknowledge insightful comments from reviewers at the King Baudouin Foundation and valuable input from the University of Cape Town Faculty of Health Sciences Human Research Ethics Committee. In addition we would like to thank Nadia Ebrahim (Contracts Manager, Department of Research Contracts and Innovation, University of Cape Town), Andries Hofkens (Data Protection Officer, Department of Information Security and Privacy, Vrije Universiteit Brussel), Kira Dies (Executive Director, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital), Stephanie Bruns (Senior Regulatory Affairs Specialist, Office for Clinical and Translational Research, Cincinnati Children's Hospital), and their teams. Publisher Copyright: Copyright © 2022 Heunis, Bissell, Byars, Capal, Chambers, Cukier, Davis, De Waele, Flinn, Gardner-Lubbe, Gipson, Kingswood, Krueger, Kumm, Sahin, Schoeters, Smith, Srivastava, Takei, Vanclooster, van Eeghen, Waltereit, Jansen and de Vries.
PY - 2022/2/28
Y1 - 2022/2/28
N2 - Introduction: Tuberous Sclerosis Complex (TSC) is a multi-system genetic disorder with various TSC-Associated Neuropsychiatric Disorders (TAND) that significantly impact the mental health and wellbeing of individuals with TSC and their caregivers. TAND represents the number one concern to families worldwide, yet is highly under-identified and under-treated. The clinician-administered TAND-Checklist (Lifetime version, TAND-L) has improved identification of TAND in clinical settings. However, many individuals with TSC and their caregivers still have difficulty accessing suitable support for diagnosis and evidence-informed interventions. The TANDem study is a community-based participatory research project with a broad range of TSC stakeholders aimed at reducing the TAND identification and treatment gap. Objectives: Participatory research identified three priority next steps: 1) development and validation of a self-report, quantified version of the TAND Checklist (TAND-SQ) and building the TAND-SQ into a smartphone application, 2) generation of consensus clinical recommendations for the identification and treatment of TAND, to be incorporated as a TAND toolkit on the app, and 3) establishment of a global TAND consortium through networking, capacity-building and public engagement activities. Methods: TANDem is a four-year project, and includes 24 consortium members from 10 countries representing all World Health Organization regions. Collaborators represent five stakeholder groups (family representatives, technology experts, clinical experts, non-profit organisations and researchers). Here we outline the project study protocol in detail, describing the scientific rationale, the project aims and objectives, the methods involved in participant recruitment, multi-site and multi-phase data collection, data analysis, ethical considerations including informed consent, data protection, privacy and confidentiality considerations related to the European Union General Data Protection Regulation and the USA Health Insurance Portability and Accountability Act. The expected outcomes and potential impact on the TSC community, implementation and dissemination of results, as well as future scale-up and scale-out plans are also discussed. Conclusions: The TANDem project has the potential to transform the global TSC community by empowering families living with TSC through an easily accessible digital solution to allow them to document their own TAND needs linked to an evidence-informed toolkit to enhance personalised healthcare, and by providing healthcare professionals with consensus clinical recommendations to prevent, identify and manage TAND manifestations.
AB - Introduction: Tuberous Sclerosis Complex (TSC) is a multi-system genetic disorder with various TSC-Associated Neuropsychiatric Disorders (TAND) that significantly impact the mental health and wellbeing of individuals with TSC and their caregivers. TAND represents the number one concern to families worldwide, yet is highly under-identified and under-treated. The clinician-administered TAND-Checklist (Lifetime version, TAND-L) has improved identification of TAND in clinical settings. However, many individuals with TSC and their caregivers still have difficulty accessing suitable support for diagnosis and evidence-informed interventions. The TANDem study is a community-based participatory research project with a broad range of TSC stakeholders aimed at reducing the TAND identification and treatment gap. Objectives: Participatory research identified three priority next steps: 1) development and validation of a self-report, quantified version of the TAND Checklist (TAND-SQ) and building the TAND-SQ into a smartphone application, 2) generation of consensus clinical recommendations for the identification and treatment of TAND, to be incorporated as a TAND toolkit on the app, and 3) establishment of a global TAND consortium through networking, capacity-building and public engagement activities. Methods: TANDem is a four-year project, and includes 24 consortium members from 10 countries representing all World Health Organization regions. Collaborators represent five stakeholder groups (family representatives, technology experts, clinical experts, non-profit organisations and researchers). Here we outline the project study protocol in detail, describing the scientific rationale, the project aims and objectives, the methods involved in participant recruitment, multi-site and multi-phase data collection, data analysis, ethical considerations including informed consent, data protection, privacy and confidentiality considerations related to the European Union General Data Protection Regulation and the USA Health Insurance Portability and Accountability Act. The expected outcomes and potential impact on the TSC community, implementation and dissemination of results, as well as future scale-up and scale-out plans are also discussed. Conclusions: The TANDem project has the potential to transform the global TSC community by empowering families living with TSC through an easily accessible digital solution to allow them to document their own TAND needs linked to an evidence-informed toolkit to enhance personalised healthcare, and by providing healthcare professionals with consensus clinical recommendations to prevent, identify and manage TAND manifestations.
KW - TSC-associated neuropsychiatric disorders (TAND)
KW - behavioural phenotypes
KW - digital technology
KW - health app
KW - personalised medicine
KW - rare diseases
KW - tuberous sclerosis complex
UR - http://www.scopus.com/inward/record.url?scp=85127156580&partnerID=8YFLogxK
U2 - https://doi.org/10.3389/fpsyt.2022.834628
DO - https://doi.org/10.3389/fpsyt.2022.834628
M3 - Article
C2 - 35295772
SN - 1664-0640
VL - 13
JO - Frontiers in psychiatry
JF - Frontiers in psychiatry
M1 - 834628
ER -