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Subject: Abnormalities of Mitochondrial Metabolism in
Children with Pervasive Developmental Disorder.

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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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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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 Yahoo! Groups Links <*> To visit your group on the web, go to: http://groups.yahoo.com/group/autismlist/ <*> To unsubscribe from this group, send an email to: autismlist-unsubscribe@xxxxxxxxxxxxxxx <*> Your use of Yahoo! Groups is subject to: http://docs.yahoo.com/info/terms/

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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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