Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Foundation for Prader-Willi Research, Covina, California, USA.
Mol Genet Genomic Med. 2023 Dec;11(12):e2262. doi: 10.1002/mgg3.2262. Epub 2023 Aug 3.
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.
Based on the online SYS Patient Voices Survey the perspective of 81 primary caregivers on SYS was assessed.
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.
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.
Schaaf-Yang 综合征（SYS）是一种神经发育障碍，由 15q 染色体上 Prader-Willi 综合征区域中父系表达的 MAGEL2 基因的截断变异引起。除了低张力和智力残疾外，SYS 患者还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，我们首次关注了患者及其家庭的疾病负担。
基于在线 SYS 患者声音调查，评估了 81 名主要照顾者对 SYS 的看法。
肌肉和发育表现的严重程度感知在幼儿期主导了表型的评估，而行为问题在以后的生活中被认为更具影响力。重要的是，对较年轻儿童照顾者中出现的后期症状的担忧。虽然可用的治疗方法大多有效，但并不能完全减轻疾病的总负担。总的来说，父母表示照顾患有 SYS 的个体非常具有挑战性，影响了他们的日常生活和长期规划。
我们的研究表明，需要针对年龄和照顾者的优先事项进行调整的治疗方法，以改善患者的病情，从而促进他们及其家庭的社会参与。
