Genetic Subtype-Phenotype Analysis of Growth Hormone Treatment on Psychiatric Behavior in Prader-Willi Syndrome
| العنوان: | Genetic Subtype-Phenotype Analysis of Growth Hormone Treatment on Psychiatric Behavior in Prader-Willi Syndrome |
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| المؤلفون: | Merlin G. Butler, Andrea S Montes, Daniel J. Driscoll, Kathryn Osann, Virginia Kimonis, June-Anne Gold, Roy N. Tamura |
| المصدر: | Genes Genes, vol 11, iss 11 Volume 11 Issue 11 Genes, Vol 11, Iss 1250, p 1250 (2020) |
| بيانات النشر: | MDPI AG, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Male, 0301 basic medicine, Logistic regression, 0302 clinical medicine, Prader-Willi syndrome (PWS), 2.1 Biological and endogenous factors, Longitudinal Studies, Aetiology, Child, Genetics (clinical), Pediatric, Mental Disorders, Confounding, growth hormone treatment, Middle Aged, Uniparental disomy, Growth hormone treatment, Mental Health, natural history, Cohort, Anxiety, Female, Prader-Willi syndrome, medicine.symptom, Prader-Willi Syndrome, phenotype correlations, Adult, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, lcsh:QH426-470, Adolescent, PWS genetic subtype–, Article, Young Adult, 03 medical and health sciences, Behavioral and Social Science, Genetics, medicine, Humans, Genetic Predisposition to Disease, Skin-picking, Genetic Testing, Psychiatry, psychiatric behavioral phenotype, Problem Behavior, business.industry, PWS molecular classes, nutritional and metabolic diseases, Uniparental Disomy, medicine.disease, nervous system diseases, Brain Disorders, lcsh:Genetics, 030104 developmental biology, PWS genetic subtype–phenotype correlations, Growth Hormone, Observational study, business, 030217 neurology & neurosurgery |
| الوصف: | Prader-Willi syndrome (PWS) is a complex multisystemic condition caused by a lack of paternal expression of imprinted genes from the 15q11.2&ndash q13 region. Limited literature exists on the association between molecular classes, growth hormone use, and the prevalence of psychiatric phenotypes in PWS. In this study, we analyzed nine psychiatric phenotypes (depressed mood, anxiety, skin picking, nail picking, compulsive counting, compulsive ordering, plays with strings, visual hallucinations, and delusions) recognized in PWS and investigated associations with growth hormone treatment (GHT), deletions (DEL) and uniparental disomy (UPD) in a cohort of 172 individuals with PWS who met the criteria for analysis. Associations were explored using Pearson chi-square tests and univariable and multivariable logistic regression analyses to control for confounding exposures. This observational study of the largest dataset of patients with PWS to date suggested the following genetic subtype and phenotype correlations in psychiatric behaviors: (1) skin picking was more frequent in those with DEL vs. UPD (2) anxiety was more common in those with UPD vs. DEL and (3) an increased frequency of anxiety was noted in the UPD group treated with GHT compared to the DEL group. No other significant associations were found between the genetic subtype or GHT including for depressed mood, nail picking, compulsive counting, compulsive ordering, playing with strings, and visual hallucinations. Further studies will be required before any conclusions can be reached. |
| وصف الملف: | application/pdf |
| تدمد: | 2073-4425 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ea51a939c8fa4a7f6809a97a248ca38Test https://doi.org/10.3390/genes11111250Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....3ea51a939c8fa4a7f6809a97a248ca38 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20734425 |
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