The relationship between the fragile X syndrome (FXS) and autism is re
viewed. Shortly after the FXS was first described, it was noted that c
ertain behaviors commonly found in afflicted individuals resemble cert
ain features of autism. Research concerning a possible relationship be
tween these conditions is summarized. The outcome of this research ind
icates that FXS is not a common cause of autism, although the number o
f individuals with FXS who meet diagnostic criteria for autism is high
er than can be accounted for by chance. The major focus of this paper
highlights that FXS is a well-defined neurogenetic disease that includ
es a cognitive behavioral phenotype, and has both a known biological c
ause and an increasing well-delineated pathogenesis. Autism is a behav
iorally defined syndrome whose syndromic boundaries and biological cau
ses are not known. These profound differences complicate comparisons a
nd causal discussions. However, the behavioral neurogenetic informatio
n available about FXS suggests certain pathways for future research di
rected at elucidating the syndrome of autism.