Angeard Nathalie, Gargiulo Marcela, Jacquette Aurélia, Radvanyi Hélène, Eymard Bruno, Héron Delphine
Institut de Myologie, Bâtiment Babinski, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Pitié-Salpêtriére, 47-83, Boulevard de l'Hôpital, 75651, Paris Cedex 13, France.
Neuromuscul Disord. 2007 Jun;17(6):451-8. doi: 10.1016/j.nmd.2007.02.012. Epub 2007 Apr 12.
The objective of this study was to assess the cognitive profile in the childhood-onset form of myotonic dystrophy (DM1). We carried out a general cognitive abilities study on 36 patients (6-18 years). Results of Full Scale IQ , VIQ (Verbal IQ) and PIQ (Performance IQ) measures are discussed in terms of global cognitive impairment depending on the (CTG)n repeat size and the transmitting parent's sex. The results highlighted a negative correlation between the CTG repeat size and cognitive function: (1) 55% of the subjects (20/34) presented large CTG expansion (mean=761) correlated with significant extensive cognitive deficits (mean Full Scale IQ=56) in both intelligence scales (verbal and non-verbal); most of them exhibited DM1 maternal transmission. (2) In the case of smaller expansion (mean=527), 38% of the subjects exhibited a subnormal intelligence (mean Full Scale IQ=86) but performed poorly on subtests evaluating attention/memory function and presented a severe deficit in visuospatial and/or visuo-constructive skills. Most of these children had paternal transmission but a few had an affected mother.
本研究的目的是评估儿童期发病型强直性肌营养不良（DM1）的认知特征。我们对36名患者（6至18岁）进行了一般认知能力研究。根据（CTG）n重复序列大小和传递亲本的性别，从整体认知障碍的角度讨论了全量表智商、言语智商（VIQ）和操作智商（PIQ）测量结果。结果突出显示了CTG重复序列大小与认知功能之间的负相关：（1）55%的受试者（20/34）出现CTG大量扩增（平均=761），这与两个智力量表（言语和非言语）中显著广泛的认知缺陷（平均全量表智商=56）相关；其中大多数表现为DM1母系遗传。（2） 在较小扩增（平均=527）的情况下，38%的受试者智力低于正常水平（平均全量表智商=86），但在评估注意力/记忆功能的分测验中表现不佳，并且在视觉空间和/或视觉构建技能方面存在严重缺陷。这些儿童大多数为父系遗传，但也有少数母亲患病。
