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Prader-Willi syndrome mental health research strategy workshop proceedings: the state of the science and future directions

ABSTRACT: This paper reports on the ‘Prader-Willi Syndrome (PWS) Mental Health Research Strategy Workshop’ that took place in March 2015. PWS is characterized by a complex phenotype affecting multiple systems with a high prevalence of maladaptive behaviours, and neuropsychiatric illness. Prader Will...

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Autores principales: Schwartz, Lauren, Holland, Anthony, Dykens, Elisabeth, Strong, Theresa, Roof, Elizabeth, Bohonowych, Jessica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5041278/
https://www.ncbi.nlm.nih.gov/pubmed/27682995
http://dx.doi.org/10.1186/s13023-016-0504-1
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author Schwartz, Lauren
Holland, Anthony
Dykens, Elisabeth
Strong, Theresa
Roof, Elizabeth
Bohonowych, Jessica
author_facet Schwartz, Lauren
Holland, Anthony
Dykens, Elisabeth
Strong, Theresa
Roof, Elizabeth
Bohonowych, Jessica
author_sort Schwartz, Lauren
collection PubMed
description ABSTRACT: This paper reports on the ‘Prader-Willi Syndrome (PWS) Mental Health Research Strategy Workshop’ that took place in March 2015. PWS is characterized by a complex phenotype affecting multiple systems with a high prevalence of maladaptive behaviours, and neuropsychiatric illness. Prader Willi syndrome results from the absence of paternally derived alleles located at the imprinted chromosomal locus, 15q11–13. The goal of the workshop was to highlight the state of the science of the mental health of people with this rare neurodevelopmental disorder. Mental ill health and maladaptive behaviors significantly impact quality of life for persons with PWS and their caregivers. Effective treatments and further research into this area are critically needed. METHODS: A multidisciplinary group of scientists and health care professionals were brought together to discuss the mental health and behavioral needs of people with PWS. The workshop strategy was to integrate established work on PWS with other relevant areas of study. The meeting also focused on two neurobiological systems that research had suggested were relevant to understanding the broader mental health aspects of PWS: the autonomic nervous system and oxytocin/vasopressin pathways. Other relevant topics were considered and recommendations made. RESULTS: The workshop presentations and working group discussions revealed that no one approach was sufficient to fully conceptualize the mental health challenges in PWS. Workshop discussions pointed to the need for theoretically informed studies focused on clinical characterization, measurement, and the probing of specific neurobiological systems through pharmaceutical or other interventions. Future studies in this area should explore the use of advanced neuroimaging protocols, as well as molecular studies using iPS cells in order to create more informed theories. CONCLUSIONS: Within this framework, workshop participants identified and prioritized key research questions, and highlighted current opportunities. Recommendations were made with respect to the development of specific resources and tools for furthering mental health research such as The Global PWS Registry, the development of effective endpoints, the use of animal models and iPS cells to aid understanding of the neurobiological underpinnings. Additionally, collaborative opportunities across disciplines and syndromes were highlighted and targeted research initiatives focused on psychological/behavioral interventions modified for use in PWS were recommended.
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spelling pubmed-50412782016-10-05 Prader-Willi syndrome mental health research strategy workshop proceedings: the state of the science and future directions Schwartz, Lauren Holland, Anthony Dykens, Elisabeth Strong, Theresa Roof, Elizabeth Bohonowych, Jessica Orphanet J Rare Dis Review ABSTRACT: This paper reports on the ‘Prader-Willi Syndrome (PWS) Mental Health Research Strategy Workshop’ that took place in March 2015. PWS is characterized by a complex phenotype affecting multiple systems with a high prevalence of maladaptive behaviours, and neuropsychiatric illness. Prader Willi syndrome results from the absence of paternally derived alleles located at the imprinted chromosomal locus, 15q11–13. The goal of the workshop was to highlight the state of the science of the mental health of people with this rare neurodevelopmental disorder. Mental ill health and maladaptive behaviors significantly impact quality of life for persons with PWS and their caregivers. Effective treatments and further research into this area are critically needed. METHODS: A multidisciplinary group of scientists and health care professionals were brought together to discuss the mental health and behavioral needs of people with PWS. The workshop strategy was to integrate established work on PWS with other relevant areas of study. The meeting also focused on two neurobiological systems that research had suggested were relevant to understanding the broader mental health aspects of PWS: the autonomic nervous system and oxytocin/vasopressin pathways. Other relevant topics were considered and recommendations made. RESULTS: The workshop presentations and working group discussions revealed that no one approach was sufficient to fully conceptualize the mental health challenges in PWS. Workshop discussions pointed to the need for theoretically informed studies focused on clinical characterization, measurement, and the probing of specific neurobiological systems through pharmaceutical or other interventions. Future studies in this area should explore the use of advanced neuroimaging protocols, as well as molecular studies using iPS cells in order to create more informed theories. CONCLUSIONS: Within this framework, workshop participants identified and prioritized key research questions, and highlighted current opportunities. Recommendations were made with respect to the development of specific resources and tools for furthering mental health research such as The Global PWS Registry, the development of effective endpoints, the use of animal models and iPS cells to aid understanding of the neurobiological underpinnings. Additionally, collaborative opportunities across disciplines and syndromes were highlighted and targeted research initiatives focused on psychological/behavioral interventions modified for use in PWS were recommended. BioMed Central 2016-09-29 /pmc/articles/PMC5041278/ /pubmed/27682995 http://dx.doi.org/10.1186/s13023-016-0504-1 Text en © The Author(s). 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Review
Schwartz, Lauren
Holland, Anthony
Dykens, Elisabeth
Strong, Theresa
Roof, Elizabeth
Bohonowych, Jessica
Prader-Willi syndrome mental health research strategy workshop proceedings: the state of the science and future directions
title Prader-Willi syndrome mental health research strategy workshop proceedings: the state of the science and future directions
title_full Prader-Willi syndrome mental health research strategy workshop proceedings: the state of the science and future directions
title_fullStr Prader-Willi syndrome mental health research strategy workshop proceedings: the state of the science and future directions
title_full_unstemmed Prader-Willi syndrome mental health research strategy workshop proceedings: the state of the science and future directions
title_short Prader-Willi syndrome mental health research strategy workshop proceedings: the state of the science and future directions
title_sort prader-willi syndrome mental health research strategy workshop proceedings: the state of the science and future directions
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5041278/
https://www.ncbi.nlm.nih.gov/pubmed/27682995
http://dx.doi.org/10.1186/s13023-016-0504-1
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