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Rare regressive disorder is not autism, new findings suggest

by  /  15 May 2015

Sudden loss: Children with childhood disintegrative disorder show a dramatic loss of cognitive abilities starting at about age 4.

Anna Jurkovska/Shutterstock.com

Children who are diagnosed with autism after drastically and suddenly losing cognitive abilities may actually have a distinct disorder, according to preliminary results presented yesterday at the 2015 International Meeting for Autism Research in Salt Lake City, Utah.

This rapid regression used to have a diagnosis: childhood disintegrative disorder (CDD). But it was subsumed under the umbrella of ‘autism spectrum disorder’ in the newest iteration of the “Diagnostic and Statistical Manual of Mental Disorders,” the DSM-5. The new findings show that the regressive syndrome deserves its own label.

“We want to publish this and get publicity for CDD, because people have stopped thinking about it — it went away,” says Abha Gupta, associate research scientist in pediatrics at Yale University, who presented the findings.

Gupta and her team sequenced the genomes of 15 children with CDD and their unaffected siblings. They identified several genes with harmful mutations linked to the disorder. Overall, these genes show little overlap with autism candidates. The genes appear to play the greatest role in deep brain regions such as the thalamus, which is involved in sensory integration, and the cerebellum, the seat of motor coordination.

Although there is some evidence linking autism to these regions, many autism genes are thought to function mainly in the cerebral cortex, which governs higher-order cognitive functions.

The researchers also scanned the brains of seven of the children using functional magnetic resonance imaging (fMRI) — a feat, given the challenges of getting children with cognitive impairments to sit still in an enclosed, noisy machine. When looking at faces, children with CDD have unusually high levels of activity in the same deep brain regions highlighted by the genetic analysis.

The researchers used eye-tracking technology to follow the gaze of five of children with CDD as they watched videos of a person speaking. All of the children focused more on the person’s eyes than on other parts of the face — a response similar to that seen among typically developing children. Children with autism, in contrast, usually prefer to watch a person’s mouth.

“In everything we’ve done, from the genetics to the eye-tracking to the fMRI, we’re seeing differences from broader autism spectrum,” says Gupta.

The CDD clinic at Yale has seen 20 children with this disorder over about as many years, from as far afield as Saudi Arabia and Argentina. These children lost their abilities later in childhood — on average around age 4 — after completely typical development until then. One child was as old as 8, Gupta says. Regression in autism, in contrast, occurs around age 2.

Because they are older, children with CDD seem to be aware — and terrified — of what is going on during their regression, says Gupta. She was particularly affected by a video of a frantic 8-year-old boy who was scratching his body and repeatedly saying, “I’m scared!”

Gupta says that by studying this extreme form of regression she hopes to better understand why regression happens in CDD as well as in disorders such as autism and Rett syndrome.

“What’s biologically going on in regression? Why do some kids regress and some kids don’t?” she says. “By looking at extreme examples, we’re hoping to get some insight.”

For more reports from the 2015 International Meeting for Autism Research, please click here.


18 responses to “Rare regressive disorder is not autism, new findings suggest”

  1. Jennifer says:

    When are you guys going to learn that looking for genetic answers is not going to provide the relief that is needed for these affected families? Do you think that a person with diabetes caress out the genetic predisposition that landed him or her that diagnosis or what can be changed, eliminated, added to improve their life TODAY. These kids go from being completely normal children to very sick and all you are worried about is how to label their behavior. I know because this happened to completely normally developing child…I have witnessed the devastation and lack of care and treatment. We have four genetic tests on everyone in the family PLUS whole genome sequencing with NOTHING that would even raise an eyebrow coming up. I would love to say my child is different and what you write about is not her story but it matches everyone else’s story that I have met and they deserves answers as much as I do. Don’t put yourself out there as a leader in autism research unless you are willing to do the research that provides REAL answers and treatments for the families.

    • Tara says:

      First of all, comparing autism and CDD to diabetes is ridiculously offensive to people with any of those condition. Diabetes is life threatening, ASD and CDD aren’t.

      second, diabetics DO want research into what specific genes cause diabetes or put people at risk for developing diabetes. That’s why there have been research that has isolated certain genetic mutations that they believe may be the cause. And why there are ongoing trials to see what can be done to prevent people with these mutations from developing diabetes.

      • Jennifer g says:

        Autism is not life threatening?? Tell that to my son’s seizures… I know a family from church whose son died because of his autism-related seizures. Another friend of mine has had scare after scare from her 21 yo escaping from her car in traffic.
        You must be dealing with the “ausome” subset.

    • James says:

      I agree with you 100%. It is very frustrating. The genes don’t explain much and when they do it’s very vague and apply only to 15% of all autism cases. Then autism spectrum is so large and you have aspergers, Rett, PDD, NOS in that group just to add more confusion so no one can figure out what the hell is happening. But one thing is for sure, it is all the consistent parents reporting of regression into autism and loss of acquired abilities. I worked in research and those antigens take years to develop and combined with preservatives could do later immune functions. Not here to negate vaccines…the word ANTI Vaxxers is a stupid word applied by ignorant and fearful people, since all those who did vaccinate did so to protect their kids.

      Unfortunately there are many factors, is the formulation, is it the combination of vaxx or could be the vaxx and antibiotics together, or a genetic common bases affected by all this.

      As a scientist, when you look at a dissolution of sugar in your tea, you have to look at various factors, the temperature of the tea, the volume, the speed of mixing, the quantity of solute etc.

      This is not done with autism. That is because researchers do work in labs isolated and do not see the variation of well and bad being in these children on a timely basis. just like a fridge temperature variation graph over time. Up and down with compressor on and off.

    • Matt Carey says:

      You might want to take a look at recent advances in gene therapy in diabetes. As long as you are using that as your example. For example,

      http://www.med.wisc.edu/news-events/gene-therapy-for-type-1-diabetes-aims-to-eliminate-daily-insulin-injections/41450

      As to genetics and diabetes in general:
      http://www.ncbi.nlm.nih.gov/books/NBK1667/

      Some of the most promising therapies proposed for autism have come from genetics studies. For example, the fragile-X based therapies that some have considered testing on a more general autism population.

      All of this ignores a more basic point: if CDD is genetic and if it is distinct from autism, it is well worth knowing. First as a marker to let parents understand that their child may be facing a regression. Second, as a way to understand the biology of the regression. If one understands the biology, one can work towards a way to avoid the regression.

      It would be great if we had better answers today. That would allow us to avoid being targets of the charlatans who prey upon us as parents, with our children paying the price in dangerous and damaging fake medicine. The way to get real answers is to understand the problem. Complaining that people are trying to do that doesn’t really help anyone.

  2. Anonymous says:

    I was actually a normally developing kid until I was 2 1/2. Then I had a rare and unusual type of autistic regression that is similar to what happened to Owen Suskind when he was almost 3.
    The regression Owen Suskind and I had is quite similar to CDD.Right after I regressed, I looked like one of my cousins when he was 2 and my mom said if it wasn’t for what my parents did and my father did, I would of looked like just like that cousin (comparable to that cousin of mine, who at birth had severe anoxia [no xoygen to brain] from birth labor and today he is profoundly intellectually challanged). All of these facts kind of prove that CDD is connected to the autism spectrum. In fact between the time I regressed and the time I improved (got back speech at 5, diagnosed Aspergers at 6), I fit DSMIV’s criteria for CDD.To determine whether my 2 1/2 year old self had an CDD or that unusual type of autistic regression Owen and I had, screening for diagnosis would have to go way beyond the DSM labeling criteria like sophistctated genome and behavior testing.
    But my parents did not wait. The moment I regressed, they just intervened and did anything to make me understand and reconnect with the world. they did not care what I had. Some autism experts might say what I had when I was 2 was actually CDD but somehow the courage and stength of my parents and the grace of God healed me. Today, I am in many ways like someone with Aspergers Syndrome and I go to a university.
    So i agree with you Jennifer, even tough a diagnosis is helpful, ACT NOW!

  3. Kate says:

    Wow, we had to wait threat whole comments for an anti-vaxxer! You have no idea if these kids were vaccinated or not. Also they regressed at four or later. AND they have specific genetic mutations. I commend the team for their research. I work with Rett Syndrome and the more we know and learn the better we can treat kids now and in the future. Perhaps like girls with Rett this children don’t have significant or perhaps any cognitive disabilities and could communicate with eye gaze run computers.

  4. Kathy says:

    Hi Kate! My son regressed at 4.5 after a vaccination in the ER! It happens, and it’s not a stretch for someone to question whether or not it’s actually vaccine injury 🙂

  5. Amanda says:

    15 kids = new disorder? Researchers need to be more responsible and tamp down on hyperbolic claims

    • Matt Carey says:

      CDD isn’t new at all. A study on 15 kids is a start to understand the disorder. Given how rare it is, 15 kids is a reasonable start.

      I see no hyperbolic claims above. All claims are qualified.

      Do we just ignore this condition because it is rare? Or do we study it for it’s own sake and for the possibility of understanding more about autism?

      I vote for the latter.

  6. usethebrainsgodgiveyou says:

    Kathy: I know so many parents are told they are crazy if their children have a reaction to vaccines. Yet in the same breath, the same people will say that they know vaccines are not totally safe, and are contraindicated for many children. I guess just not ~your~ child. Only parents whose children have autism make up the reaction. It’s a knee jerk response, they can’t help themselves.

    I don’t know, but I do think kids who have neurological differences to begin with are more apt to have a serious response to vaccines. Science should know this.

    You are not stupid. What you saw was real. THAT is what is being ignored….your child’s reaction. I guess real scientists close their eyes to anything that doesn’t fit their particular political paradigm.

    • Matt Carey says:

      People don’t call parents “crazy” for claiming that their child reacted to a vaccine. This is especially true of researchers and medical professionals who understand that the term is stigmatizing to those in the mental illness communities.

      People also don’t ignore the claims. That’s why millions of dollars have been spent checking the claims. Over and over. And over.

      I know what I see. That’s not the same thing as understanding what I see. I see the sun rise. For thousands of years very bright people understood this to mean that the sun circles the earth. They weren’t “crazy”. They were wrong. Understandably wrong, but wrong.

      The idea that autism is equivalent to vaccine injury is wrong. The idea that the majority or even a sizable minority of autism is vaccine injury is wrong. The idea that no autism at all is a vaccine injury is quite probable.

      Given that, many parents are incorrect in believing that their child’s autism is a vaccine injury.

      Telling them any different is not being respectful. Telling someone that they are correct to assume a damaging and fruitless notion about their child is not showing respect.

      • James says:

        I dont know where you get your facts. But ignoring so many similar parenst reporting regression into autism after vaccination with so many similtudes is quite sad and worrisome. Then again some with regressions have gut and immune issues so underresearched by medical community that people have turned their back on medical community and let in charlatans. it is not the charlatans fauly by the medical community who has ignored and failed to answer the basic autism health questions. One of the main feature of autism is inflammation all througout the life. Why go out there and map genes when you cant answer basic inflammation etiology.

  7. Emily says:

    Amanda: No, CDD is not a “new” disorder. These are new findings concerning a disorder that’s been known for a very long time. The question is whether or not it’s a distinct condition from autism, not whether CDD is real. It’s very rare, but it’s very well-documented to be a real occurrence.

  8. Martha says:

    I have been saying all along there is a difference between those with autism and those who act like having autism when they regress into it. My son who is now age 41 is an example of a person with true autism. He was born with autism; he never regressed into autism. It may be the case we will be seeing not an upswing in autism but an upswing in those with CDD who act like autism.

  9. CDD mom says:

    My son was among those who were part of the study. CDD is real and it is different from autism… it’s just a lot easier to explain to anyone who asks that he has autism because who’s ever heard of CDD? Of all the experts I’ve met, only a handful had an working knowledge of if even when it was a separate entity in DSM IV.

  10. Casey says:

    Is anyone considering that the regression involves a dysregulation of the motor system leading to movement differences and sensory differences? We need to be wary of the vast presumptions that the loss of speech or reliable movement (including eye movement/attention) equates to a loss of intellectual ability. With the right supports, these individuals are able to demonstrate their competence, despite their neurologic differences. Severe autism does not equate to intellectual disability. Not being able to speak is not the same as having nothing to say. Important discoveries are being found at Optimal Rhythms / ACCESS Academy in Evansville, IN. Research funding is needed. Behavior is communication. When the right supports (including communication support) are provided, behaviors melt away. Outcomes are shedding light and disproving myths. We must #presumecompetence and #rethinkautism . Research is coming…

  11. Martha says:

    I question the “rare regressive disorder” label. I think we will find CDD is NOT rare. It may be we are mixing up what is really autism with CDD. So we may actually find real autism is rare. Has anyone thought about that?

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