Department of Paediatric Neurology, Catholic University, Rome, Italy.
Neuromuscul Disord. 2013 Jun;23(6):451-5. doi: 10.1016/j.nmd.2013.02.012. Epub 2013 Mar 25.
The aim of this study was to assess neurodevelopmental profile in young boys affected by Duchenne muscular dystrophy and to establish the correlation between neurodevelopmental findings, and the type and site of mutations. A structured neurodevelopmental assessment (Griffiths Scale of Mental Development) was performed in 81 DMD boys before the age of four years (range: 7-47 months). The mean total DQ was 87 (SD 15.3). Borderline DQ (between 70 and 84) was found in 32% and DQ below 70 in 12.3% of the patients. Children with mutations upstream or in exon 44 had higher DQ than those with mutations downstream exon 44 which are associated with involvement of dystrophin isoforms expressed at high levels in brain. The difference was significant for total and individual subscale DQ with the exception of the locomotor subscale. Items, such as ability to run fast, or getting up from the floor consistently failed in all children, irrespective of the age or of the site of mutation. Our results help to understand the possible different mechanisms underlying the various aspects of neurodevelopmental delay, suggesting that the involvement of brain dystrophin isoforms may cause a delay in the maturation of coordination and dexterity.
本研究旨在评估患有杜氏肌营养不良症的男童的神经发育情况，并确定神经发育发现与突变类型和位置之间的相关性。在 4 岁之前（范围：7-47 个月），对 81 名 DMD 男孩进行了结构化的神经发育评估（Griffiths 精神发育量表）。平均总 DQ 为 87（标准差 15.3）。32%的患者存在边缘性 DQ（70-84 之间），12.3%的患者 DQ 低于 70。突变位于上游或 44 号外显子的儿童比突变位于下游 44 号外显子的儿童 DQ 更高，下游 44 号外显子的突变与在大脑中高水平表达的肌营养不良蛋白同工型有关。除了运动亚量表外，总 DQ 和个别亚量表的差异均具有统计学意义。所有儿童，无论年龄或突变位置如何，在快速奔跑或从地板上站起来等项目上都存在一致的困难。我们的研究结果有助于理解神经发育迟缓的各个方面背后可能存在的不同机制，提示脑肌营养不良蛋白同工型的参与可能导致协调和灵巧性成熟的延迟。
