Children with multiple hereditary exostoses (MHE), an inherited
genetic disease, suffer from multiple growths on their bones
that cause pain and disfigurement. But beyond the physical
symptoms of this condition, some parents have long observed that
their children with MHE also experience autism-like social
problems. Buoyed by the support of these parents, researchers at
Sanford-Burnham recently used a mouse model of MHE to
investigate cognitive function. They found that mice with a
genetic defect that models human MHE show symptoms that meet the
three defining characteristics of autism: social impairment,
language deficits, and repetitive behavior. The study, published
online the week of March 12 in the Proceedings of the National
Academy of Sciences, also defines the molecular and
physiological basis of this behavior, pinpointing the amygdala
as the region of the brain causing autistic symptoms. “There is
growing evidence that many autistic people have related genetic
defects, or defects that are exacerbated