In silico validation of the Autoinflammatory Disease Damage Index


Por: Ter Haar NM, van Delft ALJ, Annink KV, van Stel H, Al-Mayouf SM, Amaryan G, Anton-Lopez J, Barron KS, Benseler S, Brogan PA, Cantarini L, Cattalini M, Cochino AV, de Benedetti F, Dedeoglu F, de Jesus AA, Demirkaya E, Dolezalova P, Durrant KL, Fabio G, Gallizzi R, Goldbach-Mansky R, Hachulla E, Hentgen V, Herlin T, Hofer M, Hoffman HM, Insalaco A, Jansson AF, Kallinich T, Kone-Paut I, Kozlova A, Kuemmerle-Deschner JB, Lachmann HJ, Laxer RM, Martini A, Nielsen S, Nikishina I, Ombrello AK, Özen S, Papadopoulou-Alataki E, Quartier P, Rigante D, Russo R, Simon A, Trachana M, Uziel Y, Ravelli A, Schulert G, Gattorno M and Frenkel J

Publicada: 1 nov 2018 Ahead of Print: 4 ago 2018
Resumen:
Introduction Autoinflammatory diseases can cause irreversible tissue damage due to systemic inflammation. Recently, the Autoinflammatory Disease Damage Index (ADDI) was developed. The ADDI is the first instrument to quantify damage in familial Mediterranean fever, cryopyrin-associated periodic syndromes, mevalonate kinase deficiency and tumour necrosis factor receptor-associated periodic syndrome. The aim of this study was to validate this tool for its intended use in a clinical/research setting. Methods The ADDI was scored on paper clinical cases by at least three physicians per case, independently of each other. Face and content validity were assessed by requesting comments on the ADDI. Reliability was tested by calculating the intraclass correlation coefficient (ICC) using an 'observer-nested-within-subject' design. Construct validity was determined by correlating the ADDI score to the Physician Global Assessment (PGA) of damage and disease activity. Redundancy of individual items was determined with Cronbach's alpha. Results The ADDI was validated on a total of 110 paper clinical cases by 37 experts in autoinflammatory diseases. This yielded an ICC of 0.84 (95% CI 0.78 to 0.89). The ADDI score correlated strongly with PGA-damage (r=0.92, 95% CI 0.88 to 0.95) and was not strongly influenced by disease activity (r=0.395, 95% CI 0.21 to 0.55). After comments from disease experts, some item definitions were refined. The interitem correlation in all different categories was lower than 0.7, indicating that there was no redundancy between individual damage items. Conclusion The ADDI is a reliable and valid instrument to quantify damage in individual patients and can be used to compare disease outcomes in clinical studies.

Filiaciones:
Ter Haar NM:
 Laboratory for Translational Immunology, University Medical Centre Utrecht, Utrecht, The Netherlands

 Department of Paediatric Immunology and Rheumatology, University Medical Centre Utrecht, Utrecht, The Netherlands

van Delft ALJ:
 Department of Paediatrics, Universitair Medisch Centrum Utrecht-Locatie Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands

Annink KV:
 Department of Paediatrics, Universitair Medisch Centrum Utrecht-Locatie Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands

van Stel H:
 Department of Paediatrics, Universitair Medisch Centrum Utrecht-Locatie Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands

Al-Mayouf SM:
 Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

Amaryan G:
 National Paediatric Centre for Familial Mediterranean Fever and Gastroenterology Service, Arabkir Medical Centre-Institute of Child and Adolescent Health, Yerevan, Armenia

Anton-Lopez J:
 Paediatric Rheumatology Unit, Hospital Sant Joan de Déu, Barcelona, Spain

Barron KS:
 Division of Intramural Research and National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA

Benseler S:
 Departments of Paediatrics and Rheumatology, Alberta Children's Hospital, Calgary, Alberta, Canada

Brogan PA:
 Department of Infection, Inflammation and Rheumatology, University College London Institute of Child Health, London, UK

Cantarini L:
 Rheumatology Unit, Department of Medical Sciences, Surgery and Neurosciences, University of Siena, Siena, Italy

Cattalini M:
 Paediatric Clinic, University of Brescia and Spedali Civili di Brescia, Brescia, Italy

Cochino AV:
 Department of Paediatrics, National Institute for Mother and Child Health Alessandrescu-Rusescu, Bucharest, Romania

de Benedetti F:
 Division of Rheumatology, Ospedale Pediatrico Bambino Gesù, Rome, Italy

Dedeoglu F:
 Rheumatology Program, Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA

de Jesus AA:
 Translational Autoinflammatory Disease Section, NIAMS/NIH, Bethesda, Maryland, USA

Demirkaya E:
 Western University Children's Hospital, London Health Sciences Centre, London, UK

Dolezalova P:
 Department of Paediatrics and Adolescent Medicine, Charles University, General University Hospital, Praha, Czech Republic

Durrant KL:
 Autoinflammatory Alliance, San Francisco, California, USA

Fabio G:
 Department of Internal Medicine, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy

Gallizzi R:
 Department of Paediatric Rheumatology, AOUG Martino, Messina, Italy

Goldbach-Mansky R:
 Translational Autoinflammatory Disease Section, NIAMS/NIH, Bethesda, Maryland, USA

Hachulla E:
 Département de Médecine Interne et Immunologie Clinique, Université de Lille, Lille, France

Hentgen V:
 Reference centre for autoinflammatory diseases (CEREMAI), Versailles Hospital, Le Chesnay, France

Herlin T:
 Departmentof Paediatrics, Aarhus University Hospital, Aarhus, Denmark

Hofer M:
 Department of Paediatric Rheumatology, University of Lausanne, Lausanne, Switzerland

 Departmentof Paediatric Rheumatology, University Hospital of Geneva, Geneva, Switzerland

Hoffman HM:
 Department of Paediatrics, University of California, San Diego, California, USA

Insalaco A:
 Dipartimento di Medicina Pediatrica, IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy

Jansson AF:
 Paediatric Pneumology and Immunology and Interdisciplinary Centre for Social Paediatrics, Charité University Medicine Berlin, Berlin, Germany

 Department of Rheumatology and Immunology, Dr von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany

Kallinich T:
 Paediatric Pneumology and Immunology and Interdisciplinary Centre for Social Paediatrics, Charité University Medicine Berlin, Berlin, Germany

Kone-Paut I:
 Department of Paediatric Rheumatology and CEREMAI, Bicêtre Hospital, APHP, University of Paris Sud, Paris, France

Kozlova A:
 Department of Immunology, Federal Research and Clinical Centre for Paediatric Haematology, Oncology and Immunology, Moscow, Russian Federation

Kuemmerle-Deschner JB:
 Division of Pediatric Rheumatology, Department of Pediatrics, University Hospital Tübingen, Tübingen, Germany

Lachmann HJ:
 Division of Medicine, University College London, London, UK

Laxer RM:
 Department of Paediatrics and Medicine, University of Toronto and the Hospital for Sick Children, Toronto, Ontario, Canada

Martini A:
 Direzione Scientifica, Istituto Giannina Gaslini, Genova, Liguria, Italy

Nielsen S:
 Paediatric Rheumatology unit 4272, Rigshospitalet, Copenhagen, Denmark

Nikishina I:
 Department of Paediatric Rheumatic Diseases, VA Nasonova Research Institute of Rheumatology, Moscow, Russian Federation

Ombrello AK:
 Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA

Özen S:
 Pediatric Rheumatology, Hacettepe University, Ankara, Turkey

Papadopoulou-Alataki E:
 Fourth Department of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece

Quartier P:
 Department of Paediatric Immunology-Hematology and Rheumatology Unit and IMAGINE Institute, Institution Necker-Enfants Malades Hospital and Paris Descartes University, Paris, Île-de-France, France

Rigante D:
 Institute of Paediatrics, Fondazione Policlinico Universitario A Gemelli, Università Cattolica Sacro Cuore, Rome, Italy

Russo R:
 Servicio de Inmunología/Reumatología, Hospital de Pediatria Juan P Garrahan, Buenos Aires, Argentina

Simon A:
 Department of General Internal Medicine, Radboud Expertise Centre for Immunodeficiency and Autoinflammation, Radboud University Medical Centre, Nijmegen, The Netherlands

Trachana M:
 Paediatric Immunology and Rheumatology Referral Centre, first Paediatric clinic, Aristotle University of Thessaloniki, Thessaloniki, Greece

Uziel Y:
 Department of Paediatrics, Meir Medical Centre, Kfar Saba, Israel

Ravelli A:
 Institution Università degli Studi di Genova and G Gaslini Institute, Genova, Italy

Schulert G:
 Division of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA

 Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio, USA

Gattorno M:
 Institution Università degli Studi di Genova and G Gaslini Institute, Genova, Italy

Frenkel J:
 Department of Paediatrics, Universitair Medisch Centrum Utrecht-Locatie Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands
ISSN: 00034967





ANNALS OF THE RHEUMATIC DISEASES
Editorial
ELSEVIER, RADARWEG 29, 1043 NX AMSTERDAM, NETHERLANDS, Reino Unido
Tipo de documento: Article
Volumen: 77 Número: 11
Páginas: 1599-1605
WOS Id: 000450414300018
ID de PubMed: 30077992
imagen Green Submitted, Green Accepted, Bronze

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