European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia.

Autor: Fredwall S; Sunnaas Rehabilitation Hospital, TRS National Resource Centre for Rare Disorders, Nesodden, Norway. svfred@sunnaas.no., AlSayed M; Department of Medical Genomics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.; Faculty of Medicine, Alfaisal University, Riyadh, Kingdom of Saudi Arabia., Ben-Omran T; Division of Genetics and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, Doha, Qatar., Boero S; Istituto Giannina Gaslini, Genoa, Italy., Cormier-Daire V; Paris Descartes University, Paris, France., Fauroux B; Necker University Hospital and Paris Cité University, Paris, France., Guillén-Navarro E; Medical Genetics Division and Pediatrics Department, Virgen de la Arrixaca University Hospital, IMIB-Pascual Parrilla, University of Murcia, Murcia, Spain.; CIBERER-ISCIII, Madrid, Spain., Innig F; BKMF e.V., Leinestraße 2, 28199, Bremen, Germany., Kunkel P; University Medical Centre Mannheim, Mannheim, Germany., Lampe C; Clinic of Child and Youth Medicine, University Hospital Mannheim, Mannheim, Germany., Maghnie M; Paediatric Endocrinology Unit, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147, Genoa, Italy., Mohnike K; Children's Hospital, Otto-von-Guericke-University, Magdeburg, Germany., Mortier G; Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Pejin Z; Hôpital Necker, Paris, France., Sessa M; Italian Association on Achondroplasia, Milan, Italy., Sousa SB; Medical Genetics Department, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; Clinical Academic Center of Coimbra, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; University Clinic of Genetics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; ERN-BOND, Bologna, Italy., Irving M; Guy's and St Thomas' NHS Foundation Trust, London, UK.
Jazyk: angličtina
Zdroj: Advances in therapy [Adv Ther] 2024 Jul; Vol. 41 (7), pp. 2545-2558. Date of Electronic Publication: 2024 May 15.
DOI: 10.1007/s12325-024-02880-3
Abstrakt: Achondroplasia is a lifelong condition requiring lifelong management. There is consensus that infants and children with achondroplasia should be managed by a multidisciplinary team experienced in the condition. However, many people are lost to follow-up after the transition from paediatric to adult care, and there is no standardised approach for management in adults, despite the recent availability of international consensus guidelines. To address this, the European Achondroplasia Forum has developed a patient-held checklist to support adults with achondroplasia in managing their health. The checklist highlights key symptoms of spinal stenosis and obstructive sleep apnoea, both among the most frequent and potentially severe medical complications in adults with achondroplasia. The checklist acts as a framework to support individuals and their primary care provider in completing a routine review. General advice on issues such as blood pressure, pain, hearing, weight, adaptive aids, and psychosocial aspects are also included. The checklist provides key symptoms to be aware of, in addition to action points so that people can approach their primary care provider and be directed to the appropriate specialist, if needed. Additionally, the European Achondroplasia Forum offers some ideas on implementing the checklist during the transition from paediatric to adult care, thus ensuring the existing multidisciplinary team model in place during childhood can support in engaging individuals and empowering them to take responsibility for their own care as they move into adulthood.
(© 2024. The Author(s).)
Databáze: MEDLINE
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