Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada.
Mol Genet Genomics. 2018 Jun;293(3):725-736. doi: 10.1007/s00438-018-1418-5. Epub 2018 Jan 11.
Autism spectrum disorder (ASD) is defined by the triad of deficits in social interactions, deficits in communication, and repetitive behaviors. Common co-morbidities in syndromic forms of ASD include intellectual disability, seizures, and obesity. We asked whether very obese children with ASD had different behavioral, physical and genetic characteristics compared to children with ASD who were not obese. We found that very obese children with ASD had significantly poorer scores on standardized behavioral tests. Very obese boys with ASD had lower full scale IQ and increased impairments with respect to stereotypies, communication and social skills. Very obese girls with ASD had increased impairments with respect to irritability and oppositional defiant behavior. We identified genetic lesions in a subset of the children with ASD and obesity and attempted to identify enriched biological pathways. Our study demonstrates the value of identifying co-morbidities in children with ASD as we move forward towards understanding the biological processes that contribute to this complex disorder and prepare to design customized treatments that target the diverse genetic lesions present in individuals with ASD.
自闭症谱系障碍（ASD）的定义是社交互动、沟通和重复行为的三重缺陷。自闭症综合征形式的常见合并症包括智力残疾、癫痫和肥胖。我们想知道，与非肥胖的自闭症儿童相比，非常肥胖的自闭症儿童在行为、身体和遗传特征方面是否存在差异。我们发现，自闭症谱系障碍且非常肥胖的儿童在标准化行为测试中的得分明显较低。自闭症谱系障碍且非常肥胖的男孩的全量表智商较低，刻板行为、沟通和社交技能方面的障碍增加。自闭症谱系障碍且非常肥胖的女孩在易怒和对立违抗性行为方面的障碍增加。我们在一部分自闭症谱系障碍和肥胖症儿童中发现了遗传损伤，并试图确定丰富的生物学途径。我们的研究表明，在我们进一步了解导致这种复杂疾病的生物学过程并准备设计针对自闭症个体中存在的不同遗传损伤的定制治疗方法时，识别自闭症儿童的合并症具有重要价值。
