Gutierrez G C, Smalley S L, Tanguay P E
Department of Psychiatry, University of California, Los Angeles 90024, USA.
J Autism Dev Disord. 1998 Apr;28(2):97-103. doi: 10.1023/a:1026032413811.
The frequency and clinical presentation of autism in 28 probands with tuberous sclerosis complex (TSC) are reported and risk factors that may influence the development of autism in TSC are examined. Eight probands meet ICD-10 and DSM-IV criteria for autism, an additional 4 meet criteria for pervasive developmental disorder (PDD). Twelve TSC probands with autism/PDD are compared to 16 TSC probands without these conditions for factors which may underlie the association of autism and TSC. A specific seizure type, infantile spasms, as well as mental retardation, are increased in the TSC, autistic/PDD group. Furthermore, rates of social phobia and substance abuse are elevated among first-degree relatives of TSC probands with autism compared to first-degree relatives of TSC probands without autism. Implications of these findings in understanding the association of autism and TSC are discussed.
报告了28例结节性硬化症（TSC）先证者中自闭症的发病率和临床表现，并研究了可能影响TSC中自闭症发展的危险因素。8例先证者符合ICD - 10和DSM - IV自闭症标准，另外4例符合广泛性发育障碍（PDD）标准。将12例患有自闭症/PDD的TSC先证者与16例无这些病症的TSC先证者进行比较，以找出可能是自闭症与TSC关联基础的因素。TSC自闭症/PDD组中特定的癫痫类型——婴儿痉挛症以及智力迟钝有所增加。此外，与无自闭症的TSC先证者的一级亲属相比，患有自闭症的TSC先证者的一级亲属中社交恐惧症和药物滥用的发生率更高。讨论了这些发现对理解自闭症与TSC关联的意义。
