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High Prevalence of Scoliosis in a Large Cohort of Patients with Prader-Willi Syndrome

The characteristics of scoliosis were investigated in a large cohort of children and adults with Prader–Willi syndrome (PWS), analysing the role of age, gender, puberty, body mass index (BMI), genotype and growth hormone therapy (GHT) on its onset and severity. A retrospective cross-sectional study...

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Autores principales: Crinò, Antonino, Armando, Michela, Crostelli, Marco, Mazza, Osvaldo, Bruzzese, Dario, Convertino, Alessio, Fintini, Danilo, Bocchini, Sarah, Ciccone, Sara, Sartorio, Alessandro, Grugni, Graziano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8953215/
https://www.ncbi.nlm.nih.gov/pubmed/35329900
http://dx.doi.org/10.3390/jcm11061574
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author Crinò, Antonino
Armando, Michela
Crostelli, Marco
Mazza, Osvaldo
Bruzzese, Dario
Convertino, Alessio
Fintini, Danilo
Bocchini, Sarah
Ciccone, Sara
Sartorio, Alessandro
Grugni, Graziano
author_facet Crinò, Antonino
Armando, Michela
Crostelli, Marco
Mazza, Osvaldo
Bruzzese, Dario
Convertino, Alessio
Fintini, Danilo
Bocchini, Sarah
Ciccone, Sara
Sartorio, Alessandro
Grugni, Graziano
author_sort Crinò, Antonino
collection PubMed
description The characteristics of scoliosis were investigated in a large cohort of children and adults with Prader–Willi syndrome (PWS), analysing the role of age, gender, puberty, body mass index (BMI), genotype and growth hormone therapy (GHT) on its onset and severity. A retrospective cross-sectional study was performed in 180 patients with genetically confirmed PWS (96 females), aged 17.6 ± 12 years. Eighty-five subjects (47%) were obese. One hundred and fifty subjects (83.3%) were on GHT, while 30 patients had never been treated. Overall, 150 subjects (83.3%) were affected by scoliosis, 80.2% of children and adolescents and 87.8% of adults. A mild degree of scoliosis was observed in 58 patients (38.7%), moderate in 43 (28.7%) and severe in 49 (32.6%). Median age at diagnosis of scoliosis was 6.3 years, while the severe forms were diagnosed earlier (median age: 3.8 years). The cumulative probability at 5 years of age was equal to 0.403 and almost doubled at 15 years. No significant associations were found between scoliosis and genotype, gender, pubertal stage, GHT and BMI. A corset was prescribed to 75 subjects (50%) at a median age of 7.5 years, while 26 subjects (17.3%) underwent surgery at a median age of 13.1 years. Our data indicate that scoliosis is one of the major concerns for PWS patients that increases with age, and therefore suggest the need for regular systematic monitoring of spinal deformity from paediatric age.
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spelling pubmed-89532152022-03-26 High Prevalence of Scoliosis in a Large Cohort of Patients with Prader-Willi Syndrome Crinò, Antonino Armando, Michela Crostelli, Marco Mazza, Osvaldo Bruzzese, Dario Convertino, Alessio Fintini, Danilo Bocchini, Sarah Ciccone, Sara Sartorio, Alessandro Grugni, Graziano J Clin Med Article The characteristics of scoliosis were investigated in a large cohort of children and adults with Prader–Willi syndrome (PWS), analysing the role of age, gender, puberty, body mass index (BMI), genotype and growth hormone therapy (GHT) on its onset and severity. A retrospective cross-sectional study was performed in 180 patients with genetically confirmed PWS (96 females), aged 17.6 ± 12 years. Eighty-five subjects (47%) were obese. One hundred and fifty subjects (83.3%) were on GHT, while 30 patients had never been treated. Overall, 150 subjects (83.3%) were affected by scoliosis, 80.2% of children and adolescents and 87.8% of adults. A mild degree of scoliosis was observed in 58 patients (38.7%), moderate in 43 (28.7%) and severe in 49 (32.6%). Median age at diagnosis of scoliosis was 6.3 years, while the severe forms were diagnosed earlier (median age: 3.8 years). The cumulative probability at 5 years of age was equal to 0.403 and almost doubled at 15 years. No significant associations were found between scoliosis and genotype, gender, pubertal stage, GHT and BMI. A corset was prescribed to 75 subjects (50%) at a median age of 7.5 years, while 26 subjects (17.3%) underwent surgery at a median age of 13.1 years. Our data indicate that scoliosis is one of the major concerns for PWS patients that increases with age, and therefore suggest the need for regular systematic monitoring of spinal deformity from paediatric age. MDPI 2022-03-13 /pmc/articles/PMC8953215/ /pubmed/35329900 http://dx.doi.org/10.3390/jcm11061574 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Crinò, Antonino
Armando, Michela
Crostelli, Marco
Mazza, Osvaldo
Bruzzese, Dario
Convertino, Alessio
Fintini, Danilo
Bocchini, Sarah
Ciccone, Sara
Sartorio, Alessandro
Grugni, Graziano
High Prevalence of Scoliosis in a Large Cohort of Patients with Prader-Willi Syndrome
title High Prevalence of Scoliosis in a Large Cohort of Patients with Prader-Willi Syndrome
title_full High Prevalence of Scoliosis in a Large Cohort of Patients with Prader-Willi Syndrome
title_fullStr High Prevalence of Scoliosis in a Large Cohort of Patients with Prader-Willi Syndrome
title_full_unstemmed High Prevalence of Scoliosis in a Large Cohort of Patients with Prader-Willi Syndrome
title_short High Prevalence of Scoliosis in a Large Cohort of Patients with Prader-Willi Syndrome
title_sort high prevalence of scoliosis in a large cohort of patients with prader-willi syndrome
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8953215/
https://www.ncbi.nlm.nih.gov/pubmed/35329900
http://dx.doi.org/10.3390/jcm11061574
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