Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
J Dev Behav Pediatr. 2012 Sep;33(7):586-8. doi: 10.1097/DBP.0b013e31825e2310.
The authors report detailed clinical and developmental assessment of 3 brothers who were found to carry a novel mutation in the ARX gene associated with a relatively mild phenotype of static global developmental delay and early hand preference. The decision of when to initiate specialized genetic testing for patients with apparently isolated developmental delay remains controversial, and this report of 3 brothers who presented with early hand preference and transient contralateral weakness may assist clinicians in prioritizing investigations in patients with a similar presentation.
作者报告了 3 兄弟的详细临床和发育评估，他们携带的 ARX 基因突变与相对较轻的表型有关，即静态全面发育迟缓伴早期手偏好。对于表现为孤立性发育迟缓的患者何时开始进行专门的基因检测，这一决策仍存在争议，本报告中 3 兄弟表现为早期手偏好和短暂的对侧肢体无力，这可能有助于临床医生在具有类似表现的患者中优先进行检查。
