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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MDPI AG
2022-03-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/11/6/1574 |
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| author | Antonino Crinò Michela Armando Marco Crostelli Osvaldo Mazza Dario Bruzzese Alessio Convertino Danilo Fintini Sarah Bocchini Sara Ciccone Alessandro Sartorio Graziano Grugni |
| author_facet | Antonino Crinò Michela Armando Marco Crostelli Osvaldo Mazza Dario Bruzzese Alessio Convertino Danilo Fintini Sarah Bocchini Sara Ciccone Alessandro Sartorio Graziano Grugni |
| author_sort | Antonino Crinò |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-09T19:37:57Z |
| format | Article |
| id | doaj.art-d7a58ac5a86a4a4095b906e14e7f26bb |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-09T19:37:57Z |
| publishDate | 2022-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-d7a58ac5a86a4a4095b906e14e7f26bb2023-11-24T01:48:36ZengMDPI AGJournal of Clinical Medicine2077-03832022-03-01116157410.3390/jcm11061574High Prevalence of Scoliosis in a Large Cohort of Patients with Prader-Willi SyndromeAntonino Crinò0Michela Armando1Marco Crostelli2Osvaldo Mazza3Dario Bruzzese4Alessio Convertino5Danilo Fintini6Sarah Bocchini7Sara Ciccone8Alessandro Sartorio9Graziano Grugni10Reference Center for Prader-Willi Syndrome, Bambino Gesù Children’s Hospital, Research Institute, Palidoro, 00050 Rome, ItalyPaediatric Neurorehabilitation Unit, Bambino Gesù Children’s Hospital, Research Institute, Palidoro, 00050 Rome, ItalySpine Surgery Unit, Bambino Gesù Children’s Hospital, Research Institute, 00165 Rome, ItalySpine Surgery Unit, Bambino Gesù Children’s Hospital, Research Institute, 00165 Rome, ItalyDepartment of Public Health, University of Naples “Federico II”, 80131 Naples, ItalyReference Center for Prader-Willi Syndrome, Bambino Gesù Children’s Hospital, Research Institute, Palidoro, 00050 Rome, ItalyReference Center for Prader-Willi Syndrome, Bambino Gesù Children’s Hospital, Research Institute, Palidoro, 00050 Rome, ItalyReference Center for Prader-Willi Syndrome, Bambino Gesù Children’s Hospital, Research Institute, Palidoro, 00050 Rome, ItalyReference Center for Prader-Willi Syndrome, Bambino Gesù Children’s Hospital, Research Institute, Palidoro, 00050 Rome, ItalyDivision of Auxology, Istituto Auxologico Italiano, IRCCS, 28824 Piancavallo, ItalyDivision of Auxology, Istituto Auxologico Italiano, IRCCS, 28824 Piancavallo, ItalyThe 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.https://www.mdpi.com/2077-0383/11/6/1574Prader–Willi syndromescoliosisobesitygrowth hormone therapy |
| spellingShingle | Antonino Crinò Michela Armando Marco Crostelli Osvaldo Mazza Dario Bruzzese Alessio Convertino Danilo Fintini Sarah Bocchini Sara Ciccone Alessandro Sartorio Graziano Grugni High Prevalence of Scoliosis in a Large Cohort of Patients with Prader-Willi Syndrome Journal of Clinical Medicine Prader–Willi syndrome scoliosis obesity growth hormone therapy |
| 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 | Prader–Willi syndrome scoliosis obesity growth hormone therapy |
| url | https://www.mdpi.com/2077-0383/11/6/1574 |
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