Mazzocco M M, Kates W R, Baumgardner T L, Freund L S, Reiss A L
Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
J Autism Dev Disord. 1997 Aug;27(4):415-35. doi: 10.1023/a:1025857422026.
Reports of autistic behaviors were examined for 30 school-age girls with fragile X (fraX) and 31 age- and IQ-matched controls through a structured interview administered to each girl's parent(s). IQ scores were obtained for each participant; anxiety, neuroanatomical, and molecular-genetic data were derived for girls with fraX. Girls with fraX had significantly more autistic behaviors than controls. These behaviors were qualitatively similar to those reported for boys with fraX, but were not correlated with IQ. Anxiety in girls with fraX was positively correlated with abnormal social and communication behaviors; posterior cerebellar vermis area was negatively correlated with measures of communication and stereotypic/restricted behaviors. Severity of stereotypic/restricted behaviors was negatively correlated with the prevalence of active non-fraX chromosomes. Thus anxiety and posterior cerebellar area measures had distinct associations with subsets of autistic behaviors; these associations may have important implications for understanding the neurobiology of autism.
通过对30名患有脆性X综合征(fraX)的学龄女童及其31名年龄和智商匹配的对照女童的家长进行结构化访谈,对她们的自闭症行为报告进行了研究。获取了每位参与者的智商分数;针对患有fraX的女童收集了焦虑、神经解剖学和分子遗传学数据。患有fraX的女童比对照组具有明显更多的自闭症行为。这些行为在性质上与报道的患有fraX的男童相似,但与智商无关。患有fraX的女童的焦虑与异常的社交和沟通行为呈正相关;小脑蚓部后区与沟通及刻板/受限行为的测量值呈负相关。刻板/受限行为的严重程度与活跃的非fraX染色体的患病率呈负相关。因此,焦虑和小脑后区测量值与自闭症行为的不同子集有不同的关联;这些关联可能对理解自闭症的神经生物学具有重要意义。