Johansson Maria, Råstam Maria, Billstedt Eva, Danielsson Susanna, Strömland Kerstin, Miller Marilyn, Gillberg Christopher
Department of Child and Adolescent Psychiatry, Göteborg University, Sweden.
Dev Med Child Neurol. 2006 Jan;48(1):40-50. doi: 10.1017/S0012162206000090.
The rate of autism spectrum disorders (ASDs) and brain abnormalities was analyzed in 31 individuals (15 males, 16 females; age range 1mo to 31y, mean age 8y 11mo) with CHARGE association, as part of a multidisciplinary study. A meticulous neuropsychiatric examination was performed, including standardized autism diagnostic interviews. Judgement regarding ASDs was impossible in three infants and three patients who were deaf and blind. Five individuals met diagnostic criteria for autism, five for an autistic-like condition, and seven for autistic traits. Brain abnormalities were indicated in almost three-quarters of examined individuals, and midline abnormalities of the forebrain in one-third. Awareness of the coexistence of CHARGE and ASDs is important in habilitation care in CHARGE. Moreover, the results indicate that a subgroup of ASDs may be associated with errors in early embryonic brain development.
作为一项多学科研究的一部分，对31名患有CHARGE综合征的个体（15名男性，16名女性；年龄范围1个月至31岁，平均年龄8岁11个月）的自闭症谱系障碍（ASD）发病率和大脑异常情况进行了分析。进行了细致的神经精神检查，包括标准化的自闭症诊断访谈。对于三名婴儿以及三名失聪失明的患者，无法做出关于ASD的判断。五名个体符合自闭症诊断标准，五名符合类自闭症状况标准，七名有自闭症特征。近四分之三的受检个体存在大脑异常，三分之一存在前脑中线异常。认识到CHARGE综合征与ASD并存对于CHARGE综合征的康复护理很重要。此外，结果表明，ASD的一个亚组可能与早期胚胎大脑发育错误有关。
