Moes P, Schilmoeller K, Schilmoeller G
Psychology Department, Calvin College, Grand Rapids, MI 49546-4403, USA.
Child Care Health Dev. 2009 Sep;35(5):656-72. doi: 10.1111/j.1365-2214.2009.00942.x. Epub 2009 Mar 23.
The study objective was to develop a profile of characteristics and diagnostic indicators of agenesis of the corpus callosum (ACC) using a large sample of individuals with ACC and their siblings. Very few previous studies have been able to access large populations in order to develop a comprehensive profile.
Caregivers of 720 individuals with ACC and 219 siblings, the largest sample studied to date, provided surveys with data on diagnoses, physical characteristics, developmental patterns and physical functioning.
Compared with siblings, individuals with ACC exhibited a pattern of delayed motor development, difficulty with balance and bimanual movements, large head size, poor muscle tone, poor depth perception, reduced pain perception, sleeping difficulties and an increased proportion of left and mixed handedness.
These results extend previous descriptions but are also consistent with published reports that used small samples and single case studies. The data provide a profile that has implications for early detection and intervention of individuals with ACC as well as for highlighting future research directions to extend knowledge about ACC.
本研究的目的是通过对大量胼胝体发育不全（ACC）患者及其兄弟姐妹进行研究，来确定ACC的特征和诊断指标。以前很少有研究能够纳入大量人群以形成全面的特征描述。
720名ACC患者和219名兄弟姐妹的照顾者（这是迄今为止研究的最大样本）提供了关于诊断、身体特征、发育模式和身体功能的数据调查。
与兄弟姐妹相比，ACC患者表现出运动发育延迟、平衡和双手运动困难、头围较大、肌张力差、深度知觉差、痛觉减退、睡眠困难以及左利手和混合利手比例增加的模式。
这些结果扩展了先前的描述，但也与使用小样本和单病例研究的已发表报告一致。这些数据提供了一个特征描述，对ACC患者的早期检测和干预以及突出未来扩展关于ACC知识的研究方向具有启示意义。
