The association between embryonic errors and the development of autism has been recognized
in the literature, but the mechanism underlying this association remains unknown.
We propose that pleiotropic effects during a very early and specific stage of embryonic
development—early organogenesis—can explain this association. In humans early organogenesis
is an embryonic stage, spanning Day 20 to Day 40 after fertilization, which is characterized
by intense interactivity among body parts of the embryo. This implies that a single
mutation or environmental disturbance affecting development at this stage can have
several phenotypic effects (i.e., pleiotropic effects). Disturbances during early
organogenesis can lead to many different anomalies, including limb deformities, craniofacial
malformations, brain pathology, and anomalies in other organs. We reviewed the literature
and found ample evidence for the association between autism and different kinds of
physical anomalies, which agrees with the hypothesis that pleiotropic effects are
involved in the development of autism. The proposed mechanism integrates findings
from a variety of studies on autism, including neurobiological studies and studies
on physical anomalies and prenatal influences on neurodevelopmental outcomes. The
implication is that the origin of autism can be much earlier in embryologic development
than has been frequently reported.
Key Words
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Article Info
Publication History
Published online: November 23, 2009
Accepted:
October 1,
2009
Received in revised form:
September 23,
2009
Received:
March 26,
2009
Identification
Copyright
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