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.
Left Brain Right Brain 
Being a non-professional, I’m not sure what this can mean logistically for the medical community. If gone from the DSM V, does that mean it’s out of sight for medical and mental health professionals to ‘tick the box’ to make sure the Rett’s angle has been considered/tested?
Is the DSM criterea there JUST to identify mental health/behavioral issues that DON’T have a known etiology, as Dr Zoghbi intimates? Certainly hope not…
I understood that a complex and broad process was used to modify the autism diagnosis for the DSM V. I think Dr. Z’s idea is confusing, and late to the game. I suspect that a more generic diagnostic definition (excluding Asperber’s, PDD-NOS and Rhett’s) will result in including more children under the diagnosis. More shouts of ‘epidemic’ coming….
Is it just genetic etiologies which will be removed from the ASD spectrum, or will any autism which is not idiopathic end up being removed as well. For instance autism caused by rubella?
Since autism is a genetic disorder which may or may not require an environmental trigger, one wonders what will happen as our understanding of its genetics becomes more complete.
We have one precedent for this kind of thing already: Mental Retardation. It is included in the DSM-IV, Axis 2, and diagnosed both in people who have a known cause for their MR and in the “unknown origin” (cultural/familial) types that seem to be mostly just at the extreme end of the bell curve. When it’s a known origin, like Down syndrome, they put that under the general medical conditions as well as putting down the MR diagnosis.
I think it would make sense to keep the Rett Syndrome diagnosis, and do something similar: Put them under Autism, and then make Rett Syndrome the “medical” diagnosis. Most likely, as we study the genetics of autism, we will find other genetic syndromes that create autistic-style neurology; and we could list those the same way.
Fragile X, Tuberous Sclerosis, and Neurofibromatosis are 3 genetic diseases that can create an autistic-style neurology…I used your words because I think they are very precise! TS and NF have medical concerns beyond autism neurology that can be life threatening.
Hey there! I happened upon your blog and have a big favor to ask and I hope you don’t mind. Please disregard if you do:
My husband is working on a marketing plan for a firm that specializes in autism for his final UW MBA project.
http://washington.qualtrics.com/SE/?SID=SV_38L76DgnCym3ttO&SVID=Prod
Can you take the survey if you have a family member affected by autism or pass it on to someone who is? Many thanks.
~Scout
Thanks for this interesting post.
I’m sorry, Scout’s Honor, but doesn’t your husband’s university program know the difference between the validity of a self-selected survey versus a randomly selected survey? If they are not clear on the concept may I suggest he take this class.
Also, I am a bit leary about any program that markets to parents who have disabled children. I know a speech therapist at the EEU (and if he is where you say he is, and is dealing with autism he better know what that is!) who spent many hours giving a child free speech therapy… only to have the parents only credit the very expensive alternative therapy they paid for (it may have been the entirely useless cranial sacral therapy, which basically involves waving hands over the kid’s head with at most a very light touch).
Just following up on Chris’ mention of the difference between self-selection and random selection: The standard example of the difference involves a survey given to mothers, asking them whether, if they had a chance to live their lives over, they’d still have kids. If you use random sampling techniques, the response is overwhelming “yes.” If, on the other hand, the survey is administered in a self-selected format (e.g. “Call this number and respond”) the response is overwhelmingly “no”. Back in the 1960s some advice columnist (Dear Abby or Ann Landers; they were sisters) did such a (self-selected) poll, found that “most” mothers were regretful, and it led to a Congressional inquiry.
I agree with the decision to remove Rett Syndrome from the list of ASDs diagnosed in the DSM-V, but this is (or should be) a philosophical decision and should have no effect on any treatment or reimbursement decisions. If a person with Rett Syndrome needs a certain intervention, calling it by a different name doesn’t change what intervention is needed, what intervention should be provided, or what intervention should be paid for.
It is not known that autism is “genetic” (what ever that means). There are teratogens that do cause autism, thalidomide, valproate, rubella. Exposure to stress in utero does too. There are known genetic causes like Rett Syndrome.
Rett Syndrome should also be grouped with autism-like syndrome, which I would define as syndromes with some overlap of symptoms with autism and autism-like syndromes. Conceptually linking syndromes with similar symptoms may lead to improved understanding and treatments of all of the syndromes than can be conceptually linked.
It needs to be remembered that the DSM is a tool, a tool to help clinicians better do a differential diagnosis so that a better differential treatment can be applied. Those writing the DSM-V need to keep that in mind. It is not (and should not be used as) a tool to categorize people so as to deny them treatments they need, or to discriminate against them.
The rationale for removing Rett’s Disorder as a separate classification is:
“Rett’s Disorder patients often have autistic symptoms for only a brief period during early childhood, so inclusion in the autism spectrum is not appropriate for most individuals.
Like other disorders in the DSM, Autism Spectrum Disorder (ASD) is defined by specific sets of behaviors and not by etiology (at present) so inclusion of a specific etiologic entity, such as Rett’s Disorder is inappropriate. To ensure that etiology is indicated, where known, clinicians will be encouraged to utilize the specifier: “Associated with Known Medical Disorder or Genetic Condition.” In this way, it will be possible to indicate that a child with ASD has Fragile X syndrome, Tuberous Sclerosis, 22q deletion, etc.”
So apparently, anyone who fits the DSM-V’s diagnostic criteria for ASD should get the diagnosis regardless of whether there’s a known cause for the person’s condition.
Smart, but funny, as are many of your posts. I read through the archives over the past week or two, and I must say I think
I’m found a new favorite.
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