TY - JOUR
T1 - How pain affect real life of children and adults with achondroplasia: a systematic review
AU - Onesimo, Roberta
AU - Sforza, Elisabetta
AU - Bedeschi, Maria Francesca
AU - Leoni, Chiara
AU - Giorgio, Valentina
AU - Rigante, Donato
AU - De Rose, Cristina
AU - Kuczynska, Eliza Maria
AU - Romeo, Domenico Marco Maurizio
AU - Palmacci, Osvaldo
AU - Massimi, Luca
AU - Porro, Matteo
AU - Gonfiantini, Michaela Veronika
AU - Selicorni, Angelo
AU - Allegri, Anna
AU - Maghnie, Mohamad
AU - Zampino, Giuseppe
PY - 2023
Y1 - 2023
N2 - The clinical features of achondroplasia can cause acute self-limited pain that can develop 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 known features of achondroplasia.
AB - The clinical features of achondroplasia can cause acute self-limited pain that can develop 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 known features of achondroplasia.
KW - Achondroplasia
KW - Achondroplasia
UR - http://hdl.handle.net/10807/257495
U2 - 10.1016/j.ejmg.2023.104850
DO - 10.1016/j.ejmg.2023.104850
M3 - Article
SN - 1769-7212
VL - 66
SP - 1
EP - 9
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
ER -