دورية أكاديمية
Health Problems in Adults with Prader–Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature
| العنوان: | Health Problems in Adults with Prader–Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature |
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| المؤلفون: | Anna G. W. Rosenberg, Charlotte M. Wellink, Juan M. Tellez Garcia, Karlijn Pellikaan, Denise H. Van Abswoude, Kirsten Davidse, Laura J. C. M. Van Zutven, Hennie T. Brüggenwirth, James L. Resnick, Aart J. Van der Lely, Laura C. G. De Graaff |
| المصدر: | Journal of Clinical Medicine, Vol 11, Iss 14, p 4033 (2022) |
| بيانات النشر: | MDPI AG, 2022. |
| سنة النشر: | 2022 |
| المجموعة: | LCC:Medicine |
| مصطلحات موضوعية: | Prader–Willi syndrome, genetics, genetic variation, genotype, health problems, phenotype, Medicine |
| الوصف: | Prader–Willi syndrome (PWS) is a complex, rare genetic disorder caused by a loss of expression of paternally expressed genes on chromosome 15q11.2-q13. The most common underlying genotypes are paternal deletion (DEL) and maternal uniparental disomy (mUPD). DELs can be subdivided into type 1 (DEL-1) and (smaller) type 2 deletions (DEL-2). Most research has focused on behavioral, cognitive and psychological differences between the different genotypes. However, little is known about physical health problems in relation to genetic subtypes. In this cross-sectional study, we compare physical health problems and other clinical features among adults with PWS caused by DEL (N = 65, 12 DEL-1, 27 DEL-2) and mUPD (N = 65). A meta-analysis, including our own data, showed that BMI was 2.79 kg/m2 higher in adults with a DEL (p = 0.001). There were no significant differences between DEL-1 and DEL-2. Scoliosis was more prevalent among adults with a DEL (80% vs. 58%; p = 0.04). Psychotic episodes were more prevalent among adults with an mUPD (44% vs. 9%; p < 0.001). In conclusion, there were no significant differences in physical health outcomes between the genetic subtypes, apart from scoliosis and BMI. The differences in health problems, therefore, mainly apply to the psychological domain. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 11144033 2077-0383 |
| العلاقة: | https://www.mdpi.com/2077-0383/11/14/4033Test; https://doaj.org/toc/2077-0383Test |
| DOI: | 10.3390/jcm11144033 |
| الوصول الحر: | https://doaj.org/article/a6450b93e6e8469a8c9f7030a0b4ac94Test |
| رقم الانضمام: | edsdoj.6450b93e6e8469a8c9f7030a0b4ac94 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 11144033 20770383 |
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| DOI: | 10.3390/jcm11144033 |