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Subject: Abnormalities of Mitochondrial Metabolism in
Children with Pervasive Developmental Disorder. -
msg#00093
This is new to me!
Abnormalities of Mitochondrial Metabolism in Children with Pervasive Developmental Disorder. Richard I. Kelley1,2 Andrew W. Zimmerman,2,3 and Marvin Natowicz.4 1Kennedy Krieger Institute and Departments of 2Pediatrics and 3Neurology, Johns Hopkins University, Baltimore, MD, and 4Department of Neurology, Cleveland Clinic Foundation, Cleveland, OH. Although developmental delay is a common character
istic of children with disorders of mitochondrial metabolism, classical autism, Asperger syndrome,
and pervasive developmental disorder (PDD) have not commonly been associated with mitochondrial diseases. Because our institutions serve a large number of children with developmental disabilities, we have diagnosed a number of metabolic diseases among children with autistic spectrum disorders, including disorders of organic acid, sterol, and mitochondrial metabolism. Among these, mitochondrial disease has been the most common diagnosis and may account for as many as 20% of autistic children. The most common autism phenotype we find associated with mitochondrial disease is nonspecific PDD with language and cognitive regression in the second year, with more variable neuromotor abnormalities. Metabolic abnormalities by routine testing are subtle, but include mildly increased blood levels of lact
ate and alanine and increased urinary excretion of 2-ketoglutarate. Patients who have had
muscle biopsies have all have marked deficiencies of complex I, sometimes associated with a deficiency of complex III and structural abnormalities of mitochondria. An unexpected finding was that, among several multiplex families, biochemical and clinical makers of mitochondrial disease segregated in an autosomal dominant manner, suggesting a dominant negative nuclear mutation affecting complex I activity. When identified below the age of three years, affected children often respond to therapy designed to augment complex I activity and limit fasting. We speculate that, like the basal ganglia, areas of the brain important in the development of language and personal social interaction are especially vulnerable in the first two to
three years to injury mediated by defects of mitochondrial energy metabolism, and that early evaluation of autistic children for these more subtle mitochondrial disturbances may rescue some of them from more severe brain injury and lifelong disability.
Irma Sheila and her X MEN
Single & Proud mom PC (premutation carrier) to Amir (4 1/2 years old) Autistic & Fragile X Full Mutation (mosaic)
& Ryan Yadiel (2 1/2 years old) Autistic & Fragile X Full and Premutation (mosaic) Both georgeous!
Caribbean Island of Puerto Rico, USA
Knowledge is power, but only if you use it.
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Thread at a glance:
Previous Message by Date:
RE: Re: Flutie family faces the love in autism~note from Ben
Ben on
keyboard!
;
bbbb en
numbers: 1:19
- 1:42
[Char ... I
think he is pointing to bible passages. Numbers. He was looking at
your post specifically on this one.]
Here's a
success story, Char & everyone ... because we need to hear about the ones
where your work is making a difference!
Your note
reminded me of your FC experience with Down Syndrome kids. This past
weekend, we met a man who is going to be our new neighbor across the hall.
He is about 50 yrs. old and has Down Syndrome and Autism. He is one
of those amazing people with those pure, joyful spirits. *And a true
success story* when adult services are implemented with care. He spent
about 12 years in an east coast institution and had little to no
speech. We met his caseworker a few weeks ago. When that institution
was shut down, he was shuffled from group home to group home. He began
speaking after being introduced to a talking letter board! Speech is still
difficult to comprehend, but boy does this guy try hard! Then, the local
assisted living teams from the DMR stepped in. This will be the 2nd
attempt to provide assisted/independent living for him. The
first apt. he was placed in out here was a crack house and he suffered a
lot from that exposure. You know --- users/takers who took advantage
of his giving nature. Anyway, they're putting everything together so that
he can live primarily on his own. This neighborhood isn't too much better,
but we'll look out for each other ;o)
Tom, if you
get out here for that conference, you'll get to meet John. As you put it,
he's a real "hoot!" I walked out front to get the mail this weekend
and there he was sitting on his 3-wheel giant bike. He says "I work at
McDonald's." "I'm waiting for the keys." I told him i
know. [his caseworker had told us a little bit] He works in the same
one where Ben did his conductor bit. lol This guy is SO proud
of his abilities. I'm looking at his tricycle and I notice a couple funny
things. He has a little cooler pack filled with Skittles and M&Ms in
the big basket [he gets 'em wholesale & sells them for a dollar to earn
extra money.] Then he says "I'm quiet, but you might hear my music."
In the basket is this radio - you know those old, old boxy looking big
transistors? With the leather covers? Not the handheld kind ... the
bigger ones. That's what he's got! I haven't seen one of
those things in years. He was listening to a local Oldies station.
:o) Then he says "I got a Section 8" [local housing voucher.]
I was thinking that I hoped the radio didn't break because he'd have a
hard time finding replacement parts. Right then, he says out loud "Well,
i'm getting a new vacuum from [local repair shop] because the old one broke
& cost too much to fix." I mean, this guy just was so trusting and
incredibly sweet. And not a little telepathic! I know you will
know what I mean! I can see why some would take advantage.
He talked about a few other things and promised that he
would meet the children this week. They were in the back yard at the time,
but he wanted to do that later. So! I had to run in the house
with Sarah. And while we did so, Ben walked up to the front gate and
peeked over at John. He waved his "rattle" and made a quiet "E-yo"
sound. It almost sounded like when Ben tries to vocalize
"Eeyore." Well, it will be an interesting summer, i think!
John rides his trike up & down the local busy Avenue, waving at people &
playing his radio when he's not working at McDonald's. And I feel like
we're going to learn quite a bit this year ;o)
So, on that
ramble ... know that every word, every step, every person touched when we put
our experiences out there ... can produce a much better and more loving place
right now and for the future.
Keep on
putting the word out!!!!
XO for the
power of love~
~*~ Ben &
Tink
-----Original Message-----From:
autismlist@xxxxxxxxxxxxxxx [mailto:autismlist@xxxxxxxxxxxxxxx]On Behalf Of
cbrandl@xxxxxxxSent: Sunday, July 24, 2005 10:28 PMTo:
autismlist@xxxxxxxxxxxxxxxSubject: [Autismlist] Re: Flutie family
faces challenge of autism
Tom
(and everyone),I remember being at a conference in Illinois where I heard
Jonathon Shestack speak to a very large group about his son Dov. He
agonized over the family's inability to know just what was wrong when Dov was
ill or in pain. At that time, I carried with me a copy of my book,
telling of my personal experiences with FC, but was too shy to approach him. I
KNEW there was a way to "reach" Dov! It was just two years later that my
annual Christmas appeal from CAN told the exciting story of the "breakthrough"
that had occurred. Dov had started to communicate, and (as we might
expect) it was through facilitated communication. For whatever reason,
however, CAN, Dov's family, and Soma and Tito (who were instrumental in making
this happen) have chosen NOT to talk about how things got started.
What about the Fluties? Is there any chance we could introduce
FC into Dougie's life????And --- why am I such a
wimp?????Char> > From: Tom Smith
<qim@xxxxxxxxx>> Date: 2005/07/24 Sun PM 07:23:09 CDT> To:
Autismlist <autismlist@xxxxxxxxxxxxxxx>> Subject: [Autismlist]
Fwd: [AutDads] True measure of QB's heart found at home, Flutie family faces
challenge of autism> > ''I believe Dougie can understand the
majority of what we're saying to> him," Doug said. ''I just don't think
he's able to respond.> > I think the elder Flutie is making
progress.> > Tom
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Next Message by Date:
Abnormalities of Mitochondrial.... sorry
RE: Abnormalities of Mitochondrial Metabolism in Children with Pervasive Developmental Disorder.
Sorry, I always state the source where I got the info from
Genetics Society of Australiahttp://www.geneswest-hgsa2004.org/abstracts/index.html
Irma Sheila and her X MEN
Single & Proud mom PC (premutation carrier) to Amir (4 1/2 years old) Autistic & Fragile X Full Mutation (mosaic)
& Ryan Yadiel (2 1/2 years old) Autistic & Fragile X Full and Premutation (mosaic) Both georgeous!
Caribbean Island of Puerto Rico, USA
Knowledge is power, but only if you use it.
__________________________________________________Do You Yahoo!?Tired of spam? Yahoo! Mail has the best spam protection around http://mail.yahoo.com
YAHOO! GROUPS LINKS
Visit your group "autismlist" on the web.
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Previous Message by Thread:
Re: Flutie family faces challenge of autism
Tom (and everyone),
I remember being at a conference in Illinois where I heard Jonathon Shestack
speak to a very large group about his son Dov. He agonized over the family's
inability to know just what was wrong when Dov was ill or in pain. At that
time, I carried with me a copy of my book, telling of my personal experiences
with FC, but was too shy to approach him. I KNEW there was a way to "reach"
Dov! It was just two years later that my annual Christmas appeal from CAN told
the exciting story of the "breakthrough" that had occurred. Dov had started to
communicate, and (as we might expect) it was through facilitated communication.
For whatever reason, however, CAN, Dov's family, and Soma and Tito (who were
instrumental in making this happen) have chosen NOT to talk about how things
got started.
What about the Fluties? Is there any chance we could introduce FC into
Dougie's life????
And --- why am I such a wimp?????
Char
>
> From: Tom Smith <qim@xxxxxxxxx>
> Date: 2005/07/24 Sun PM 07:23:09 CDT
> To: Autismlist <autismlist@xxxxxxxxxxxxxxx>
> Subject: [Autismlist] Fwd: [AutDads] True measure of QB's heart found at
> home, Flutie family faces challenge of autism
>
> ''I believe Dougie can understand the majority of what we're saying to
> him," Doug said. ''I just don't think he's able to respond.
>
> I think the elder Flutie is making progress.
>
> Tom
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Next Message by Thread:
Abnormalities of Mitochondrial.... sorry
RE: Abnormalities of Mitochondrial Metabolism in Children with Pervasive Developmental Disorder.
Sorry, I always state the source where I got the info from
Genetics Society of Australiahttp://www.geneswest-hgsa2004.org/abstracts/index.html
Irma Sheila and her X MEN
Single & Proud mom PC (premutation carrier) to Amir (4 1/2 years old) Autistic & Fragile X Full Mutation (mosaic)
& Ryan Yadiel (2 1/2 years old) Autistic & Fragile X Full and Premutation (mosaic) Both georgeous!
Caribbean Island of Puerto Rico, USA
Knowledge is power, but only if you use it.
__________________________________________________Do You Yahoo!?Tired of spam? Yahoo! Mail has the best spam protection around http://mail.yahoo.com
YAHOO! GROUPS LINKS
Visit your group "autismlist" on the web.
To unsubscribe from this group, send an email to: autismlist-unsubscribe@xxxxxxxxxxxxxxx
Your use of Yahoo! Groups is subject to the Yahoo! Terms of Service.
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