Département de Psychiatrie de l'Enfant et de l'Adolescent, Université Pierre et Marie Curie, AP-HP, Hôpital Pitié-Salpêtrière, 47-83, Boulevard de l'Hôpital, 75651 Paris Cedex 13, France.
Eur Child Adolesc Psychiatry. 2009 Dec;18(12):705-15. doi: 10.1007/s00787-009-0037-4. Epub 2009 Jun 19.
Myotonic dystrophy type 1 (DM1) is the most frequent inherited neuromuscular disorder. The juvenile form has been associated with cognitive and psychiatric dysfunction, but the phenotype remains unclear. We reviewed the literature to examine the psychiatric phenotype of juvenile DM1 and performed an admixture analysis of the IQ distribution of our own patients, as we hypothesised a bimodal distribution. Two-thirds of the patients had at least one DSM-IV diagnosis, mainly attention deficit/hyperactivity disorder and anxiety disorder. Two-thirds had learning disabilities comorbid with mental retardation on one hand, but also attention deficit, low cognitive speed and visual spatial impairment on the other. IQ showed a bi-modal distribution and was associated with parental transmission. The psychiatric phenotype in juvenile DM1 is complex. We distinguished two different phenotypic subtypes: one group characterised by mental retardation, severe developmental delay and maternal transmission; and another group characterised by borderline full scale IQ, subnormal development and paternal transmission.
肌强直性营养不良 1 型（DM1）是最常见的遗传性神经肌肉疾病。青少年型与认知和精神功能障碍有关，但表型仍不清楚。我们复习了文献，以检查青少年 DM1 的精神表型，并对我们自己的患者的智商分布进行了混合分析，因为我们假设存在双峰分布。三分之二的患者至少有一个 DSM-IV 诊断，主要是注意力缺陷/多动障碍和焦虑症。三分之二的患者存在学习障碍，一方面伴有智力迟钝，另一方面伴有注意力缺陷、认知速度低和视觉空间障碍。智商呈双峰分布，与父母的遗传方式有关。青少年 DM1 的精神表型很复杂。我们区分了两种不同的表型亚型：一组以智力迟钝、严重发育迟缓和母系遗传为特征；另一组以边界全量表智商、发育不良和父系遗传为特征。
