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Brock
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22 Nov 2012, 10:33 pm

I've asked this before, but need to again because I'm really hoping to get an answer.

Has anyone with Autism/Aspergers ever been told they may have Marfan Syndrome? Do the symptoms ever get confused or misdiagnosed (early on)?



Underscore
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22 Nov 2012, 10:43 pm

Marfan Syndrome is very much about physical deficits/deformities, and I'm pretty sure this has nothing in common with Asperger's, which is about something else. I have been digging into Marfan Syndrome before, it seem to be something pretty rare, not relating to Asperger's, or autism, that is hard to diagnose, because people with Marfan syndrome usually look different with neurological issues like pain and motor skills (still not relating to Asperger's).



riverotter
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22 Nov 2012, 11:11 pm

Marfan Syndrome is a totally different thing than AS. Marfan is an autosomal dominant disorder that is completely genetic in nature, completely physical. It affects any connective tissue in the body, particularly bones, lung, and heart. If you have the gene for it from a parent, you will have this disorder. It can result in sudden death. My friend's dad died suddenly from effects of it many years ago.

In contrast to AS, Marfan is not neurological at all, and has no psychiatric/emotional/mental manifestations in and of itself.

A person could have both, sure, but there would be no confusion between the two.



Brock
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23 Nov 2012, 12:41 am

I know they are different, but the awkward, skinny, androgynous qualities it causes in males can be similar.

Also the long fingers thing.



Lumpia
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23 Nov 2012, 1:55 am

Sounds like sticklers syndrome. My family runs strong with both autism and sticklers. I have those two as well as alopecia ariata (random bald spots all over the body).

Which brings me to an interesting fact- I know an aspie MD experimenting with methylfolate for the MTFHR genetic mutation.

Not only are his patients (of all kinds of neurological backgrounds, all with MTFHR mutations) reporting more clarity of thought etc but one woman with alopecia totalis (total hair loss, all over the body) regrew all of her hair in three months.

(alopecia totalis and ariata are not yet linked to MTFHR mutations but is an unexplained and uncurable genetic disorder)



riverotter
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23 Nov 2012, 10:09 pm

Brock wrote:
I know they are different, but the awkward, skinny, androgynous qualities it causes in males can be similar.

Also the long fingers thing.


I had to think about this for awhile, and had three thoughts about it.
1
Everyone I've known who either had been diagnosed with Marfan's syndrome or had a member of the family diagnosed with it, was definitely introverted and/or very dedicated to specific individual pursuits and interests. (I am talking about three separate families).
2
My husband, who has a multitude of ASD traits, also has a Marfan-esque appearance (disproportionately long limbs and facial bones), although he is only of average height for an American male.
3
Also, we know a guy with Townes-Brocks syndrome (another autosomal dominant disorder) who is also autistic.



birds
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28 Nov 2012, 1:06 pm

marfan syndrome is a disorder of connective tissue -- it doesn't have any effect on the brain... i do know a few people with it and i have to agree with riverotter that they seem more "aspie-like" than most, but i'd assume that's just a consequence of the low self-esteem & social isolation that chronic illness can cause, rather than an element of MFS symptomatology. interestingly, there is a disorder that causes the physical symptoms of marfan along with a greatly increased predisposition towards autism spectrum disorders & other psychiatric problems (Lujan-Fryns)... but it's a rather rare condition and it's usually comorbid with mental retardation.



LittlePether17
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31 Aug 2014, 6:14 pm

I have Marfan Syndrome and Asperger's Syndrome. I agree that they are not related, but I do know of people who have Marfan Syndrome and an ASD.
:roll:



Aimee529
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09 Dec 2015, 11:34 am

I found this post while searching online for information about Marfan Syndrome with respect to Autism. I am being sent to a Marfan Clinic because they suspect I have Marfan Syndrome (and given my family history and my own peculiarities I think it is highly likely....I also think it is highly likely that I have passed this on to my children who are also both on the spectrum). I found this article and thought some of you might find it interesting. "For example, Marfan syndrome, a connective tissue disorder, was found to have significant comorbidities with neuropsychiatric diseases such as autism, bipolar disorder and depression." http://www.sciencedaily.com/releases/20 ... 122357.htm

I have noticed that there are A LOT of people on the spectrum that I meet who have some kind of Autoimmune condition. I can't help wondering if there might be a connection between Autism and underlying health conditions that go missed because doctors right the symptoms as "just" Autism.

***Also, Marfan Syndrome is a Connective Tissue Disease, and there is connective tissue in the brain so there being a link between Marfan Syndrome and ASD in some cases may not be that far off. (Obviously Marfan is too rare to cause all cases of ASD but there could still be a connection in some cases)



B19
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10 Dec 2015, 3:01 am

One of my (autistic) grandchildren has Marfans also - we think that the Marfans came from his mother's side of the family and the autism from our paternal side. He was born as an extremely tall baby and is now at 18 just over 7 feet tall, and has the concave chest formation which is monitored twice a year just to make sure that the inward pressure is not affecting his cardiac function. He is the "most autistic" of all the autists in the five generations of my family tree which I have personally observed (that is the two generations before me, and the two after me, from my grandparent's generation to my grandchildren's).



Butterfly88
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10 Dec 2015, 11:02 am

I've heard of Marfan Syndrome but don't think it's an ASD thing.



Aimee529
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10 Dec 2015, 11:38 am

I am not trying to say ASD is caused my Marfan Syndrome. I am trying to say that in people with Marfan Syndrome there may be a great chance of having ASD.