结节性硬化症与自闭症
Tuberous sclerosis complex in autism.
作者信息
Guo Xin, Tu Wen-Jun, Shi Xiao-Dong
机构信息
Department of Clinical laboratory, The First Affiliated Hospital of Harbin Medical University, Harbin, China.
出版信息
Iran J Pediatr. 2012 Sep;22(3):408-11.
OBJECTIVE
To study the prevalence rate of tuberous sclerosis complex in autistic disorder.
METHODS
We studied one cohort of children followed up since 2005 until 2009, with autistic disorder, to determine the incidence of tuberous sclerosis complex. We established an autistic disorder registry in 2005 at China Rehabilitation Research Center. During the 4-year period (2005-2009), we collected a database of 429 children (390 boys and 39 girls; male to female ratio 10:1) with autistic disorder and pervasive developmental disorders. We routinely examined all children with autistic disorder for any features of tuberous sclerosis complex by looking for neurocutaneous markers such as depigmented spots. In those with infantile spasm or epilepsy, the clinical features of tuberous sclerosis complex were monitored regularly during follow-up.
FINDINGS
Of these, five had tuberous sclerosis complex. Thus, the prevalence rate of tuberous sclerosis complex in autistic disorder is 1.17%. All of these children were mentally retarded with moderate to severe grades. Their IQ or developmental quotient was less than 70.
CONCLUSION
The prevalence rate of tuberous sclerosis complex in autistic disorder was 1.17% in our region; autism spectrum disorder is a condition that might be associated with development of tuberous sclerosis complex.
目的
研究结节性硬化症在孤独症谱系障碍中的患病率。
方法
我们对一组自2005年至2009年随访的患有孤独症谱系障碍的儿童进行研究，以确定结节性硬化症的发病率。2005年我们在中国康复研究中心建立了孤独症谱系障碍登记处。在4年期间（2005 - 2009年），我们收集了429名患有孤独症谱系障碍和广泛性发育障碍的儿童（390名男孩和39名女孩；男女比例为10:1）的数据库。我们通过寻找神经皮肤标志物如色素脱失斑，对所有患有孤独症谱系障碍的儿童进行常规检查，以确定是否有结节性硬化症的任何特征。对于患有婴儿痉挛症或癫痫的儿童，在随访期间定期监测结节性硬化症的临床特征。
结果
其中，5名患有结节性硬化症。因此，结节性硬化症在孤独症谱系障碍中的患病率为1.17%。所有这些儿童均为中重度智力发育迟缓。他们的智商或发育商低于70。
结论
在我们地区，结节性硬化症在孤独症谱系障碍中的患病率为1.17%；孤独症谱系障碍可能是一种与结节性硬化症发展相关的疾病。
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