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DSM V and Rett Syndrome

Posted Mar 02 2010 7:42am

Sullivan recently posted about the proposed changes to the DSM V that would include dropping Aspergers and PDD-NOS. However, whats not so widely realised is that the changes also encompass Rett Syndrome, proposing dropping it entirely.

Rett was originally included in the DSM because it was a disorder with autistic features of an unknown cause. Now that the genetic cause has been identified, the rationale for removing Rett is that it is more its own distinct entity. Another reason pertains to the transient nature of autism features in Rett patients.

However, this may be a very short sighted move. RSRT scientific advisory board member and Rett Syndrome researcher Huda Zoghbi , M.D. discussed the reasons for this on the Rett blog:

I actually do not agree with this approach. I think the approach should be to see what clinically fulfills criteria for autism. I would be in favor of a more precise categorization and dividing DSM V into two types: DSM V A and B. One would be used for syndromic autism and one would be non-syndromic autism. There would be genetic etiologies for both syndromic and non-syndromic. Currently most of the known genetic causes are for syndromic autism but in time, as we do more sophisticated sequencing and we study patients with simplex autism (one case in a family, with no features other than classic autism) we will find etiologies for non-syndromic as well. In my view this would be a much more useful distinction. Bottom-line: having a known genetic cause should not eliminate a disorder from DSM V.

Whats not widely known about Rett is that not all females with a diagnosis of Rett have an identified mutation. Conversely there are females with MECP2 mutations who do not have Rett Syndrome symptoms. Removing Rett from the DSM V seems to be cutting these females off from autism entirely.

The DSM V could be a huge clinical step forward but not at the expense of cutting off people from the support and services they need.

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