19 April 2012 A pilot study from Montefiore Medical Center reported in this month’s Pediatric Neurology looks at social and communicative behaviour in girls with Rett Syndrome. Early results suggest that girls with Rett syndrome may have better social and communicative skills than what is often assumed, and that they differ from many other individuals with autism because they show greater interest in social stimuli.
This study should be interesting to families of children and adults with MECP2 duplication syndrome and others interested in the syndrome for a couple of reasons. First, like Rett syndrome, MECP2 duplication syndrome has been grouped in the family of disorders that produce symptoms of autism, and many individuals with MECP2 duplication syndrome have been given an autism diagnosis. Second, many parents of children or adults with MECP2 duplication syndrome report similar findings to those now being documented in Rett syndrome. Parents typically report that they believe their children with MECP2 duplication syndrome understand much more than they can communicate to others and that they are interested in other people. Finally, this is an example of another area of research that it would be great to see with our boys and girls. So far research into MECP2 duplication syndrome has been largely genetic and medical, and this is badly needed. Nevertheless, our boys and girls also can benefit from social, psychological, and educational research that can help to give them better lives.