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Article

Genetic Subtype-Phenotype Analysis of Growth Hormone Treatment on Psychiatric Behavior in Prader-Willi Syndrome

1
Division of Genetics and Genomics Medicine, Department of Pediatrics, University of California, Irvine, CA 92868, USA
2
Department of Medicine, University of California, Irvine, CA 92868, USA
3
Health Informatics Institute, University of South Florida, Tampa, FL 33620, USA
4
Department of Pediatrics, University of Florida, Gainesville, FL 32610, USA
5
Departments of Psychiatry, Behavioral Sciences, and Pediatrics, University of Kansas Medical Center, Kansas City, KS 66160, USA
*
Author to whom correspondence should be addressed.
Genes 2020, 11(11), 1250; https://doi.org/10.3390/genes11111250
Received: 25 August 2020 / Revised: 19 October 2020 / Accepted: 20 October 2020 / Published: 23 October 2020
(This article belongs to the Special Issue Genetics of Prader-Willi syndrome)
Prader-Willi syndrome (PWS) is a complex multisystemic condition caused by a lack of paternal expression of imprinted genes from the 15q11.2–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. View Full-Text
Keywords: Prader-Willi syndrome (PWS); PWS molecular classes; PWS genetic subtype–phenotype correlations; natural history; psychiatric behavioral phenotype; growth hormone treatment Prader-Willi syndrome (PWS); PWS molecular classes; PWS genetic subtype–phenotype correlations; natural history; psychiatric behavioral phenotype; growth hormone treatment
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MDPI and ACS Style

Montes, A.S.; Osann, K.E.; Gold, J.A.; Tamura, R.N.; Driscoll, D.J.; Butler, M.G.; Kimonis, V.E. Genetic Subtype-Phenotype Analysis of Growth Hormone Treatment on Psychiatric Behavior in Prader-Willi Syndrome. Genes 2020, 11, 1250. https://doi.org/10.3390/genes11111250

AMA Style

Montes AS, Osann KE, Gold JA, Tamura RN, Driscoll DJ, Butler MG, Kimonis VE. Genetic Subtype-Phenotype Analysis of Growth Hormone Treatment on Psychiatric Behavior in Prader-Willi Syndrome. Genes. 2020; 11(11):1250. https://doi.org/10.3390/genes11111250

Chicago/Turabian Style

Montes, Andrea S., Kathryn E. Osann, June A. Gold, Roy N. Tamura, Daniel J. Driscoll, Merlin G. Butler, and Virginia E. Kimonis 2020. "Genetic Subtype-Phenotype Analysis of Growth Hormone Treatment on Psychiatric Behavior in Prader-Willi Syndrome" Genes 11, no. 11: 1250. https://doi.org/10.3390/genes11111250

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