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.
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。