Schwartz Lauren, Holland Anthony, Dykens Elisabeth, Strong Theresa, Roof Elizabeth, Bohonowych Jessica
Department of Rehabilitation Medicine, University of Washington, 1959 N.E. Pacific St, Box 356490, Seattle, WA, 98195, USA.
Department of Psychiatry, Cambridge Intellectual and Developmental Disabilities Research Group, University of Cambridge, Cambridge, UK.
Orphanet J Rare Dis. 2016 Sep 29;11(1):131. doi: 10.1186/s13023-016-0504-1.
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.
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.
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.
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.
本文报道了2015年3月举行的“普拉德-威利综合征（PWS）心理健康研究策略研讨会”。PWS的特征是具有影响多个系统的复杂表型，适应不良行为和神经精神疾病的患病率很高。普拉德-威利综合征是由于位于印记染色体位点15q11-13上的父源等位基因缺失所致。该研讨会的目标是突出这种罕见神经发育障碍患者心理健康的科学现状。心理健康不佳和适应不良行为对PWS患者及其照顾者的生活质量有重大影响。迫切需要有效的治疗方法以及对该领域的进一步研究。
召集了一组多学科的科学家和医疗保健专业人员，讨论PWS患者的心理健康和行为需求。研讨会策略是将关于PWS的既定工作与其他相关研究领域相结合。会议还聚焦于两个神经生物学系统，研究表明这两个系统与理解PWS更广泛的心理健康方面相关：自主神经系统和催产素/加压素途径。还考虑了其他相关主题并提出了建议。
研讨会的报告和工作组讨论表明，没有一种方法足以全面概念化PWS中的心理健康挑战。研讨会讨论指出，需要进行理论指导的研究，重点是临床特征描述、测量以及通过药物或其他干预措施探究特定神经生物学系统。该领域未来的研究应探索使用先进的神经成像方案以及使用诱导多能干细胞的分子研究，以建立更有依据的理论。
在此框架内，研讨会参与者确定了关键研究问题并对其进行了优先排序，并突出了当前的机会。就开发用于推进心理健康研究的特定资源和工具提出了建议，例如全球PWS登记处、有效终点的开发、使用动物模型和诱导多能干细胞来帮助理解神经生物学基础。此外，还强调了跨学科和综合征的合作机会，并建议开展针对为PWS患者修改的心理/行为干预措施的针对性研究计划。
