Croonen Ellen A, Harmsen Mirjam, Van der Burgt Ineke, Draaisma Jos M, Noordam Kees, Essink Marlou, Nijhuis-van der Sanden Maria W G
Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
Radboud Institute for Health Sciences, IQ Healthcare, Radboud University Medical Center, Nijmegen, The Netherlands.
Am J Med Genet A. 2016 Sep;170(9):2349-56. doi: 10.1002/ajmg.a.37814. Epub 2016 Jun 24.
Studies from a patient perspective on motor performance problems in Noonan syndrome in daily life are lacking. The aims of this study were to provide insight into the motor performance problems that people with Noonan syndrome and/or their relatives experienced, the major consequences they suffered, the benefits of interventions they experienced, and the experiences with healthcare professionals they mentioned. We interviewed 10 adults with Noonan syndrome (two were joined by their parent), and 23 mothers (five of whom had Noonan syndrome), nine fathers (one of whom had Noonan syndrome) and one cousin who reported on 28 children with Noonan syndrome. People with Noonan syndrome reported particular problems related to pain, decreased muscle strength, fatigue, and clumsiness, which had an evident impact on functioning in daily life. Most participants believed that problems with motor performance improved with exercise, appropriate physiotherapy guidance, and other supportive interventions. Nevertheless, people with Noonan syndrome and/or their relatives did not feel heard and supported and experienced no understanding of their problems by healthcare professionals. This was the first study from a patient perspective that described the motor performance problems in people with Noonan syndrome, the major consequences in daily life, the positive experiences of interventions and the miscommunication with healthcare professionals. To achieve optimal support, healthcare professionals, as well as people with Noonan syndrome and/or their relatives themselves, should be aware of these frequently presented problems with motor performance. Research on these different aspects is needed to better understand and support people with Noonan syndrome.© 2016 Wiley Periodicals, Inc.
从患者角度对努南综合征患者日常生活中运动表现问题的研究尚属空白。本研究旨在深入了解努南综合征患者及其亲属所经历的运动表现问题、他们所遭受的主要后果、所经历干预措施的益处以及他们所提到的与医护人员打交道的经历。我们采访了10名患有努南综合征的成年人（其中两人由其父母陪同），以及23位母亲（其中5人患有努南综合征）、9位父亲（其中1人患有努南综合征）和1位表亲，这位表亲讲述了28名患有努南综合征儿童的情况。患有努南综合征的人报告了与疼痛、肌肉力量下降、疲劳和笨拙相关的特殊问题，这些问题对日常生活功能有明显影响。大多数参与者认为，通过锻炼、适当的物理治疗指导和其他支持性干预措施，运动表现问题会有所改善。然而，患有努南综合征的人及其亲属感觉自己的声音未被倾听，也未得到支持，并且觉得医护人员不理解他们的问题。这是第一项从患者角度描述努南综合征患者运动表现问题、日常生活中的主要后果、干预措施的积极体验以及与医护人员沟通不畅的研究。为了提供最佳支持，医护人员以及患有努南综合征的人及其亲属自身都应意识到这些经常出现的运动表现问题。需要对这些不同方面进行研究，以更好地理解和支持患有努南综合征的人。© 2016威利期刊公司
