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1. Musculoskeletal symptoms in patients with cryopyrin-associated periodic syndromes: a large database study.

Author

Houx L, Hachulla E, Kone-Paut I, Quartier P, Touitou I, Guennoc X, Grateau G, Hamidou M, Neven B, Berthelot JM, Lequerré T, Pillet P, Lemelle I, Fischbach M, Duquesne A, Le Blay P, Le Jeunne C, Stirnemann J, Bonnet C, Gaillard D, Alix L, Touraine R, Garcier F, Bedane C, Jurquet AL, Duffau P, Smail A, Frances C, Grall-Lerosey M, Cathebras P, Tran TA, Morell-Dubois S, Pagnier A, Richez C, Cuisset L, and Devauchelle-Pensec V

Subjects
Adolescent, Adult, Aged, Arthralgia complications, Arthritis complications, Child, Child, Preschool, Cryopyrin-Associated Periodic Syndromes complications, Cryopyrin-Associated Periodic Syndromes genetics, Databases, Factual, Female, Humans, Infant, Infant, Newborn, Male, Middle Aged, Mutation, Myalgia complications, Phenotype, Young Adult, Arthralgia physiopathology, Arthritis physiopathology, Cryopyrin-Associated Periodic Syndromes physiopathology, Musculoskeletal System physiopathology, Myalgia physiopathology
Abstract

Objective: To determine the type and frequency of musculoskeletal symptoms at onset and during followup of cryopyrin-associated periodic syndromes (CAPS)., Methods: We retrospectively recorded the articular and muscular symptoms of patients with CAPS followed up in French hospitals. Data were presented as frequencies or the median (range), and patient groups were compared using chi-square test, Fisher's exact test, and Mann-Whitney test., Results: The study included 133 patients (33 children), 20 with familial cold autoinflammatory syndrome, 88 with Muckle-Wells syndrome, 22 with chronic infantile neurologic, cutaneous, articular syndrome, and 3 with unclassified CAPS. The median age was 35 years (range 0-78 years) at the time of the study, 1 year (range 0-41 years) at symptom onset, and 23 years (range 0-58 years) at diagnosis. The disease was sporadic in 17% of the patients. Cutaneous symptoms predominated at onset (77%), followed by articular symptoms (30%). The p.Thr348Met and p.Arg260Trp NLRP3 mutations were significantly associated with the presence and absence of articular symptoms at onset, respectively. During followup, 86% of the patients had musculoskeletal symptoms, 88% had arthralgia, and 58% had arthritis, but only 9% had joint destruction. Tendinopathies occurred in 21.5% of the patients, tender points in 16.5%, and myalgia in 33%. Only 3 patients had typical knee deformities. Radiographs were rarely obtained. Except for bone deformities, osteoarticular symptoms occurred at similar frequencies in the different CAPS phenotypes., Conclusion: Joint manifestations were frequent in all CAPS phenotypes. Bone deformities were rare. Musculoskeletal manifestations varied within given families but tended to worsen over time., (© 2015, American College of Rheumatology.)

Published
2015
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3. Musculoskeletal Symptoms in Patients With Cryopyrin-Associated Periodic Syndromes: A Large Database Study

Author

Houx , Laetitia, Hachulla , Eric, Kone-Paut , Isabelle, Quartier , Pierre, Touitou , Isabelle, Guennoc , Xavier, Grateau , Gilles, Hamidou , Mohamed, Neven , Bénédicte, Berthelot , Jean-Marie, Lequerré , Thierry, Pillet , Pascal, Lemelle , Irène, Fischbach , Michel, Duquesne , Agnès, Le Blay , Pierre, Le Jeunne , Claire, Stirnemann , Jérome, Bonnet , Christine, Gaillard , Dominique, Alix , Lilian, Touraine , Renaud, Garcier , François, Bedane , Christophe, Jurquet , Anne-Laure, Duffau , Pierre, Smail , Amar, Frances , Camille, Grall-Lerosey , Martine, Cathebras , Pascal, Tran , Tu Anh, Morell-Dubois , Sandrine, Pagnier , Anne, Richez , Christophe, Cuisset , Laurence, Devauchelle-Pensec , Valérie, Service de médecine physique et de réadaptation, Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Département de Médecine Interne (DMP - LILLE), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service Pédiatrie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Service d'immuno-hématologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHRU Brest - Service de Rhumatologie (CHU - BREST - Rhumato), Laboratoire d'Informatique Médicale et Ingénierie des Connaissances en e-Santé (LIMICS), Université Paris 13 (UP13)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de médecine interne [Nantes], Université de Nantes (UN)-Hôtel-Dieu-Centre hospitalier universitaire de Nantes (CHU Nantes), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de Rhumatologie (Rhumato - HD - NANTES), Hôtel-Dieu de Nantes, Service de rhumatologie [CHU Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Laboratoire Aimé Cotton (LAC), Centre National de la Recherche Scientifique (CNRS)-Université Paris-Sud - Paris 11 (UP11)-École normale supérieure - Cachan (ENS Cachan), Service de Pédiatrie [Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service Néphrologie Pédiatrique, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Remodelage et Reparation du Tissu Renal, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Cellules souches mésenchymateuses, environnement articulaire et immunothérapies de la polyarthrite rhumatoide, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR3, Université Montpellier 1 (UM1)-Université Montpellier 1 (UM1), CHU Necker - Enfants Malades [AP-HP], Mathématiques Appliquées Paris 5 (MAP5 - UMR 8145), Université Paris Descartes - Paris 5 (UPD5)-Institut National des Sciences Mathématiques et de leurs Interactions (INSMI)-Centre National de la Recherche Scientifique (CNRS), Agence nationale de sécurité sanitaire de l'alimentation, de l'environnement et du travail (ANSES), Service de Génétique Clinique Chromosomique et Moléculaire, CHU Saint-Etienne-Hôpital Nord - Saint-Etienne, Service de Dermatologie [CHU Limoges], CHU Limoges, Service de Biochimie et Génétique Moléculaire [CHU Limoges], Service de médecine interne et maladies infectieuses [Bordeaux], CHU Bordeaux [Bordeaux]-Groupe hospitalier Saint-André, Service de Néphrologie - Médecine Interne, CHU Amiens-Picardie-hôpital Sud, CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de pédiatrie médicale et médecine de l'adolescent [Rouen], Service de Médecine Interne, Hôpital Pellegrin, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Immunologie et Pathologie (EA2216), Université de Brest (UBO)-IFR148, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), École normale supérieure - Cachan (ENS Cachan)-Université Paris-Sud - Paris 11 (UP11)-Centre National de la Recherche Scientifique (CNRS), Hôpital de Hautepierre [Strasbourg], Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Dupuytren [CHU Limoges], Hôpital Sud [CHU Rennes], CHU Pontchaillou [Rennes], Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), CHU Marseille, CHU Amiens-Picardie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Hôpital Claude Huriez [Lille], CHU Lille, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hôpital Cochin [AP-HP], Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), CHU Toulouse [Toulouse], Centre Hospitalier Régional Universitaire de Brest ( CHRU Brest ), Département de Médecine Interne ( DMP - LILLE ), Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Bicêtre, Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Université de Montpellier ( UM ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre Hospitalier Régional Universitaire [Montpellier] ( CHRU Montpellier ), CHRU Brest - Service de Rhumatologie ( CHU - BREST - Rhumato ), Laboratoire d'Informatique Médicale et Ingénierie des Connaissances en e-Santé ( LIMICS ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Université Paris 13 ( UP13 ), Université de Nantes ( UN ) -Hôtel-Dieu-Centre hospitalier universitaire de Nantes ( CHU Nantes ), Imagine - Institut des maladies génétiques ( IMAGINE - U1163 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Département de Rhumatologie ( Rhumato - HD - NANTES ), Service de rhumatologie [Rouen], CHU Rouen-Université de Rouen Normandie ( UNIROUEN ), Normandie Université ( NU ) -Normandie Université ( NU ), Laboratoire Aimé Cotton ( LAC ), École normale supérieure - Cachan ( ENS Cachan ) -Université Paris-Sud - Paris 11 ( UP11 ) -Centre National de la Recherche Scientifique ( CNRS ), Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université Montpellier 1 ( UM1 ) -IFR3-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Mathématiques Appliquées à Paris 5 ( MAP5 - UMR 8145 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National des Sciences Mathématiques et de leurs Interactions-Centre National de la Recherche Scientifique ( CNRS ), Agence Nationale de Sécurité Sanitaire, de l'Alimentation, de l'environnement et du Travail ( ANSES ), ANSES - Agence nationale de sécurité sanitaire de l'alimentation, de l'environnement et du travail ( ANSES ), CHU Amiens-Picardie-Hôpital Sud, Unité fonctionnelle de dermatologie, CHU Pitié-Salpêtrière [APHP], Immunologie et Pathologie ( EA2216 ), and Université de Brest ( UBO ) -IFR148

Subjects
Adult, Male, musculoskeletal diseases, Adolescent, Databases, Factual, Arthropathy, Young Adult, Genetic heterogeneity, Open label, [ SDV.IMM ] Life Sciences [q-bio]/Immunology, Humans, Child, Cold autoinflammatory syndrome, CIAS1 mutations, Musculoskeletal System, ComputingMilieux_MISCELLANEOUS, Aged, Multisystem inflammatory disease, Arthritis, Infant, Newborn, Long term efficacy, Infant, Myalgia, Middle Aged, Arthralgia, Cryopyrin-Associated Periodic Syndromes, Phenotype, Anakinra, Child, Preschool, Mutation, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, Muckle wells syndrome, Articular syndrome
Abstract

International audience; Objective: To determine the type and frequency of musculoskeletal symptoms at onset and during followup of cryopyrin-associated periodic syndromes (CAPS).Methods: We retrospectively recorded the articular and muscular symptoms of patients with CAPS followed up in French hospitals. Data were presented as frequencies or the median (range), and patient groups were compared using chi-square test, Fisher's exact test, and Mann-Whitney test.Results: The study included 133 patients (33 children), 20 with familial cold autoinflammatory syndrome, 88 with Muckle-Wells syndrome, 22 with chronic infantile neurologic, cutaneous, articular syndrome, and 3 with unclassified CAPS. The median age was 35 years (range 0-78 years) at the time of the study, 1 year (range 0-41 years) at symptom onset, and 23 years (range 0-58 years) at diagnosis. The disease was sporadic in 17% of the patients. Cutaneous symptoms predominated at onset (77%), followed by articular symptoms (30%). The p.Thr348Met and p.Arg260Trp NLRP3 mutations were significantly associated with the presence and absence of articular symptoms at onset, respectively. During followup, 86% of the patients had musculoskeletal symptoms, 88% had arthralgia, and 58% had arthritis, but only 9% had joint destruction. Tendinopathies occurred in 21.5% of the patients, tender points in 16.5%, and myalgia in 33%. Only 3 patients had typical knee deformities. Radiographs were rarely obtained. Except for bone deformities, osteoarticular symptoms occurred at similar frequencies in the different CAPS phenotypes.Conclusion: Joint manifestations were frequent in all CAPS phenotypes. Bone deformities were rare. Musculoskeletal manifestations varied within given families but tended to worsen over time.

Published
2015
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4. Validation of the French version of the Childhood Health Assessment Questionnaire (CHAQ) in juvenile idiopathic arthritis

Author

Pouchot, Jacques, Larbre, Jean-Paul, Lemelle, Irène, Sommelet, Danièle, Grouteau, Eric, David, Louis, Duquesne, Agnès, Job Deslandre, Chantal, Kone Paut, Isabelle, Pillet, Pascal, Goumy, Laurence, Barbier, Catherine, Guyot, Marie-Hélène, Mazingue, Françoise, Gandon Laloum, Sylvie, Fischbach, Michel, Quartier, Pierre, Guyot, Claude, Jean, Sylvie, and Legall, Edouard

Subjects
*ARTHRITIS, *CHILDREN'S health
Abstract

Objectives. To translate, cross-culturally adapt, and validate the functional disability tool Childhood Health Assessment Questionnaire (CHAQ), a variant of the Health Assessment Questionnaire (HAQ), in children with juvenile idiopathic arthritis (JIA). Children and methods. The disability index is the mean of the scores on the eight domains of the CHAQ and can range from 0 (no disability) to 3 (maximum disability). The CHAQ was first translated into French and adapted, then validated in a multicenter cross-sectional study in 306 children with JIA (systemic onset, 23%; polyarticular onset, 22%; extended oligoarticular subtype, 25%; and persistent oligoarticular subtype, 30%). Results. Overall CHAQ scores discriminated between the four JIA subtypes (systemic: 1.1 ± 0.9; polyarticular: 0.8 ± 0.7, extended oligoarticular: 0.8 ± 0.7, and persistent oligoarticular: 0.4 ± 0.5 ⟦P < 0.0001〉). Reproducibility evaluated by test-retest at a 7-day interval was excellent (intraclass coefficient, 0.91), as was agreement between the Parent’s and Children’s versions of the questionnaire (intraclass coefficient, 0.89). Significant correlations were found between the overall CHAQ score and variables reflecting disease severity (joint counts, physician’s and parent’s global assessments, and erythrocyte sedimentation rate), indicating excellent convergent validity of the tool. Conclusions. The French version of the CHAQ displays good psychometric characteristics, although its sensitivity to change remains to be established. The French version of the CHAQ should prove useful in international studies and can be expected to be helpful for monitoring individual patients with JIA. [Copyright &y& Elsevier]

Published
2002
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