PDF(Pubmed)
Abstract：
BACKGROUND: Schaaf-Yang syndrome (SYS) is a neurodevelopmental disorder caused by truncating variants in the paternally expressed MAGEL2 gene in the Prader-Willi syndrome-region on chromosome 15q. In addition to hypotonia and intellectual disability, individuals with SYS are frequently affected by neonatal contractures and autism spectrum disorder. In this study, we focus on the burden of disease on patients and their families for the first time.
METHODS: Based on the online SYS Patient Voices Survey the perspective of 81 primary caregivers on SYS was assessed.
RESULTS: The perceived severity of muscular and developmental manifestations dominated the evaluation of the phenotype in early childhood, while behavioral issues were considered more impactful later in life. Importantly, an apprehension toward symptoms with a later onset was observed in caregivers of younger children. Available therapeutic options, while mostly effective, did not sufficiently alleviate the total burden of disease. Overall, parents stated that caring for an individual with SYS was very challenging, affecting their daily lives and long-term planning.
CONCLUSIONS: Our study demonstrates the necessity for treatments that, adapted to age and in accordance with the caregivers\' prioritization, improve the patients\' medical condition and thus facilitate their and their families\' social participation.
METHODS: Based on the online SYS Patient Voices Survey the perspective of 81 primary caregivers on SYS was assessed.
RESULTS: The perceived severity of muscular and developmental manifestations dominated the evaluation of the phenotype in early childhood, while behavioral issues were considered more impactful later in life. Importantly, an apprehension toward symptoms with a later onset was observed in caregivers of younger children. Available therapeutic options, while mostly effective, did not sufficiently alleviate the total burden of disease. Overall, parents stated that caring for an individual with SYS was very challenging, affecting their daily lives and long-term planning.
CONCLUSIONS: Our study demonstrates the necessity for treatments that, adapted to age and in accordance with the caregivers\' prioritization, improve the patients\' medical condition and thus facilitate their and their families\' social participation.
摘要：
背景：Schaaf-Yang综合征（SYS）是一种神经发育障碍，由染色体15q上Prader-Willi综合征区域中父方表达的MAGEL2基因的截断变异引起。除了张力减退和智力残疾，患有SYS的个体经常受到新生儿挛缩和自闭症谱系障碍的影响。在这项研究中,我们首次关注患者及其家庭的疾病负担。
方法：基于在线SYS患者声音调查，评估了81名主要护理人员对SYS的看法。
结果：感知的肌肉和发育表现的严重程度主导了儿童早期表型的评估，而行为问题在以后的生活中被认为更具影响力。重要的是,在年幼儿童的照顾者中观察到对症状发作较晚的担忧。可用的治疗选择，虽然最有效，没有充分减轻疾病的总负担。总的来说,父母表示，用SYS照顾一个人非常具有挑战性，影响他们的日常生活和长期规划。
结论：我们的研究表明，治疗的必要性，适应年龄，并根据照顾者的优先次序，改善患者的医疗条件，从而促进他们和他们的家庭的社会参与。
方法：基于在线SYS患者声音调查，评估了81名主要护理人员对SYS的看法。
结果：感知的肌肉和发育表现的严重程度主导了儿童早期表型的评估，而行为问题在以后的生活中被认为更具影响力。重要的是,在年幼儿童的照顾者中观察到对症状发作较晚的担忧。可用的治疗选择，虽然最有效，没有充分减轻疾病的总负担。总的来说,父母表示，用SYS照顾一个人非常具有挑战性，影响他们的日常生活和长期规划。
结论：我们的研究表明，治疗的必要性，适应年龄，并根据照顾者的优先次序，改善患者的医疗条件，从而促进他们和他们的家庭的社会参与。
