Kleefstra Syndrome?

Statest16Statest16 Citizen, Mentor
I saw this CNN article that said some types of autism are caused by "Kleefstra Syndrome"

I have heard of most developmental conditions like the Trisomy conditions like Downs,Edwards or Patau's and other things like Retts but had never ever heard of Kleestra Syndrome.

And certainly never heard it caused autism or  as the article phrased it,types of autism.

Anyone else ever hear of this?

Comments

  • Statest16Statest16 Citizen, Mentor
    It seem to appear from looking into it anywhere that Kleefstra is cause of some types of autism.It is like Fragile-X  can be found with autism among many other things but I don't think it's a cause.
  • verityverity Administrator, Citizen
    edited April 23
    Well it causes symptoms like autism.

    Is is question of modelling if that is included within ASD. It is meet the diagnostic requirement I can't see reason why it wouldn't.

    Kleefstra is he syndrome and Autism is one of the conditions associated with it as far as the information provided states.  
  • Statest16Statest16 Citizen, Mentor
    Maybe what your saying is that KS-2 exhibits some autism like symptom's but is not a cause of autism.
  • verityverity Administrator, Citizen
    Statest16 said:
    Maybe what your saying is that KS-2 exhibits some autism like symptom's but is not a cause of autism.

    think of autism as a model, you are matching a set of traits.  If those trait match it it fits the model.

    Now there is bit more to it that that, but is the majority of psychiatry in a nutshell.

  • verityverity Administrator, Citizen
    I pulled these following definitions off the web:

    • A disease is a pathophysiological response to internal or external factors.
    • A disorder is a disruption to regular bodily structure and function.
    • A syndrome is a collection of signs and symptoms associated with a specific health-related cause.
    • A condition is an abnormal state of health that interferes with normal or regular feelings of wellbeing.

    So Kleefstra Syndrome is a set of trait due to a genetic abnormality (in the medical sense), and some of the symptoms present like autism.  It might be some individually with condition would have traits that match the model of ASD

    It woudl seem to me that ASD is a monomer as it really a syndrome. The only issue with that we don't know the causes of Autism.
  • HylianHylian Citizen, Mentor
    I am not surprised that there are so many syndromes that are associated with developing autism/autism-like symptoms. From what I know there are currently around 100+ genes (I don't have a clear number, as sources say anywhere from 102 to 180 genes) correlated with (not necessarily yet confirmed to cause) autism, and it seems more and more of these genes are being thought of as their own syndromes, with their own comorbities and subset of autism-like symptoms.

    I wonder if the "autism spectrum" will eventually become very narrowed down and not be as much of a "spectrum", as more of these genes are investigated and get their own diagnoses. I don't think that'd be a bad thing though, since that'd mean people with certain genes could have better treatments and accommodations catered to them. I'd certainly like to know what genes cause the autism that runs in my family, what comorbities are associated with it, and how different treatment may be for the genes I have.
  • I would agree, in many cases, that autism does act like a "syndrome," rather than a "disorder."
  • Butterfly88Butterfly88 New Member, Member
    Interesting.  It is pretty rare though, only 114 described cases according to one government health site I found.  So it certainly doesn't account for the majority of ASD cases.  
  • Statest16Statest16 Citizen, Mentor
    I would agree, in many cases, that autism does act like a "syndrome," rather than a "disorder."
    Autism was originally considered a syndrome until the DSM-V ASD thing came with D for disorder.

    That's why I hate technicalities and prefer idiot savant anyway,I choose to identify as idiot savant and fu#% the doctors
  • Statest16Statest16 Citizen, Mentor
    Interesting.  It is pretty rare though, only 114 described cases according to one government health site I found.  So it certainly doesn't account for the majority of ASD cases.  
    KS-2 is only three years old and it's very rare indeed,that why I find the CNN article false.
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