2026-04-19T15:18:45Zhttps://recercat.cat/oai/request

oai:recercat.cat:11351/119762025-10-24T10:25:04Zcom_2072_378070com_2072_378040col_2072_378092

00925njm 22002777a 4500 dc Stabouli, Stella author Sommer, Anna author Kraft, Stefanie author Schweer, Katharina author Bethe, Dirk author Bertholet-Thomas, Aurélia author Ariceta Iraola, Gema author 2024-09-27T11:28:16Z 2024-09-27T11:28:16Z 2024-03 Adolescents; Cystinosis; Psychologists Adolescentes; Cistinosis; Psicólogos Adolescents; Cistinosi; Psicòlegs Cystinosis is a rare autosomal-recessive lysosomal storage disease that progressively affects multiple organs beginning with the kidneys. Patients require lifelong multidisciplinary care for the management of kidney disease and progressive extra-renal manifestations, and thus, they are especially fragile and vulnerable during transition from pediatric to adult care. Previous documents have provided guidance to help the medical transition of these highly burdened patients. Patients and their families often experience great psychological distress and face significant social challenges; for these reasons, they often need help from psychologists, social workers, and other psychosocial professionals. Due to the rarity of the disease, most psychosocial professionals have no expertise in this disorder and require advice. To this end, a steering committee (SC) composed of six experts, including pediatric nephrologists, psychologists, and social workers with experience in the care for patients with cystinosis, have identified and addressed seven key questions related to psychosocial challenges of the disease and the burden of treatment. Ten additional international experts (the extended faculty, EF) were invited to answer these questions. Since robust evidence is lacking, as in many rare diseases, conclusions were based on collective agreement between members of the SC and the EF, and the consolidated answers were summarized into expert opinion statements. The present document contains information on the concerns and psychosocial burden of patients with cystinosis and of their caregivers, and provides practical advice for timely and appropriate support to facilitate the transition to adult care. Open access funding provided by HEAL-Link Greece. The program was supported by Chiesi Farmaceutici S.p.A. Chiesi was not involved in the content or outcome of the manuscript, which were solely determined by the SC and EF experts. http://hdl.handle.net/11351/11976 Cistinosi - Tractament Assessorament psicològic Continuïtat assistencial Adolescents Adults DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Lysosomal Storage Diseases::Cystinosis Other subheadings::Other subheadings::/therapy ANTHROPOLOGY, EDUCATION, SOCIOLOGY, AND SOCIAL PHENOMENA::Social Sciences::Sociology::Sociological Factors::Social Environment::Social Support::Psychosocial Support Systems HEALTH CARE::Health Care Facilities, Manpower, and Services::Health Services::Patient Care::Continuity of Patient Care::Transition to Adult Care ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::enfermedades por almacenamiento lisosómico::cistinosis Otros calificadores::Otros calificadores::/terapia ANTROPOLOGÍA, EDUCACIÓN, SOCIOLOGÍA Y FENÓMENOS SOCIALES::ciencias sociales::sociología::factores sociológicos::ambiente social::apoyo social::servicios de asistencia psicológica ATENCIÓN DE SALUD::instalaciones, servicios y personal de asistencia sanitaria::servicios de salud::asistencia al paciente::continuidad de la atención al paciente::tránsito a la atención adulta Addressing the psychosocial aspects of transition to adult care in patients with cystinosis