Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Willink Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre, University of Manchester, CMFT, Manchester, UK.
Mol Genet Metab. 2017 Dec;122S:35-40. doi: 10.1016/j.ymgme.2017.09.010. Epub 2017 Sep 27.
The mucopolysaccharidosis (MPS) disorders are caused by deficiencies of specific lysosomal enzymes, resulting in progressive glycosaminoglycan (GAG) accumulation in cells and tissues throughout the body. Excessive GAG storage can lead to a variety of somatic manifestations as well as primary and secondary neurological symptoms. Behavioral problems (like hyperactivity, attention difficulties, and severe frustration) and sleeping problems are typical primary neurological symptoms of MPS caused by GAG accumulation in neurons, and are frequently observed in patients with MPS I, II, III, and VII. As these problems often place a significant burden on the family, proper management is important. This review summarizes current insights into behavioral and sleeping problems in MPS disorders and the most optimal management approaches, as presented and discussed during a meeting of an international group of experts with extensive experience in managing and treating MPS.
黏多糖贮积症(MPS)是由特定溶酶体酶缺乏引起的,导致全身细胞和组织中糖胺聚糖(GAG)的进行性积累。过多的 GAG 储存会导致各种躯体表现以及原发性和继发性神经症状。行为问题(如多动、注意力困难和严重挫折)和睡眠问题是由神经元中 GAG 积累引起的 MPS 的典型原发性神经症状,在 MPS I、II、III 和 VII 患者中经常观察到。由于这些问题经常给家庭带来很大的负担,因此适当的管理很重要。这篇综述总结了目前对 MPS 疾病中行为和睡眠问题的认识,以及国际专家组在管理和治疗 MPS 方面的经验丰富的会议上提出和讨论的最佳管理方法。