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How pain affect real life of children and adults with achondroplasia: A systematic review.
Onesimo, Roberta; Sforza, Elisabetta; Bedeschi, Maria Francesca; Leoni, Chiara; Giorgio, Valentina; Rigante, Donato; De Rose, Cristina; Kuczynska, Eliza Maria; Romeo, Domenico Marco; Palmacci, Osvaldo; Massimi, Luca; Porro, Matteo; Gonfiantini, Michaela Veronika; Selicorni, Angelo; Allegri, Anna; Maghnie, Mohamad; Zampino, Giuseppe.
Affiliation
  • Onesimo R; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168, Roma, Italy. Electronic address: roberta.onesimo@policlinicogemelli.it.
  • Sforza E; Università Cattolica Del Sacro Cuore, Rome, 00168, Italy. Electronic address: elisabetta.sforza@unicatt.it.
  • Bedeschi MF; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Medical Genetics Unit, Milan, Italy. Electronic address: mariafrancesca.bedeschi@policlinico.mi.it.
  • Leoni C; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168, Roma, Italy. Electronic address: chiara.leoni@policlinicogemelli.it.
  • Giorgio V; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168, Roma, Italy; Università Cattolica Del Sacro Cuore, Rome, 00168, Italy. Electronic address: valentina.giorgio@policlinicogemelli.it.
  • Rigante D; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168, Roma, Italy. Electronic address: Donato.Rigante@unicatt.it.
  • De Rose C; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168, Roma, Italy. Electronic address: cristina.derose@guest.policlinicogemelli.it.
  • Kuczynska EM; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168, Roma, Italy. Electronic address: elizamaria.kuczynska@policlinicogemelli.it.
  • Romeo DM; Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168, Rome, Italy; Pediatric Neurology Unit, Università Cattolica Del Sacro Cuore, 00168, Rome, Italy. Electronic address: domenicomarco.romeo@policlinicogemelli.it.
  • Palmacci O; Department of Orthopaedics and Traumatology, Fondazione Policlinico Universitario A. Gemelli IRCCS - Università Cattolica Del Sacro Cuore, Rome, Italy. Electronic address: osvaldo.palmacci@unicatt.it.
  • Massimi L; Neurochirurgia Pediatrica, Dipartimento di Neuroscienze, Organi di Senso e Torace, Fondazione Policlinico Universitario A. Gemelli IRCCS, Italy; Dipartimento di Neuroscienze, Università Cattolica Del Sacro Cuore, Italy. Electronic address: luca.massimi@policlinicogemelli.it.
  • Porro M; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Pediatric Physical Medicine & Rehabilitation Service, Milan, Italy. Electronic address: matteo.porro@policlinico.mi.it.
  • Gonfiantini MV; Rare Diseases and Medical Genetics Unit, IRCCS Bambino Gesù Children's Hospital, Rome, Italy. Electronic address: mveronik.gonfiantini@opbg.net.
  • Selicorni A; Department of Paediatrics, Presidio S. Fermo, ASST Lariana, Como, Italy. Electronic address: angelo.selicorni@asst-lariana.it.
  • Allegri A; Pediatric Endocrinology Unit, Department of Pediatrics, IRCCS IstitutoGianninaGaslini, 16147, Genoa, Italy. Electronic address: annaallegri@gaslini.org.
  • Maghnie M; Pediatric Endocrinology Unit, Department of Pediatrics, IRCCS IstitutoGianninaGaslini, 16147, Genoa, Italy; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy. Electronic address: Mohamad.Maghnie@unige.it.
  • Zampino G; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168, Roma, Italy. Electronic address: giuseppe.zampino@unicatt.it.
Eur J Med Genet ; 66(11): 104850, 2023 Nov.
Article in En | MEDLINE | ID: mdl-37758167
The clinical features of achondroplasia can cause acute self-limited pain that can evolve into chronic pain. Pain causes a low quality of life, in terms of physical, emotional, social, and school functioning in both adult and children with achondroplasia. We conducted a systematic review according to the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) statement to describe prevalence, assessment tools, causes and management strategies of pain in this rare disease. We found that shoulder and knee pain is typically referred during infancy, while knee pain is generally referred around 5-6 years of age. The prevalence of general pain in adolescence can be as high as 90%. Chronic pain in the achondroplasia population increases with age, with up to 70% of adults reporting general pain and back pain. Recognizing the multiple determinants of acute and chronic pain in patients with achondroplasia may enable physicians to better understand and manage this burden, particularly with the advent of new drugs that may modify some of the striking features of achondroplasia.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Achondroplasia / Chronic Pain Type of study: Risk_factors_studies / Systematic_reviews Aspects: Patient_preference Limits: Adolescent / Adult / Child / Humans Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Country of publication:

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Achondroplasia / Chronic Pain Type of study: Risk_factors_studies / Systematic_reviews Aspects: Patient_preference Limits: Adolescent / Adult / Child / Humans Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Country of publication: