autistic traits

[Guest guest]

Hi to the Mom of the 22 month old with questions of autistic features:

I have two sons w/ complex 1 mito disorder. They also have epilepsy and autism secondary to the mitochondrial disease. We've seen Drs. Shoffner and Whiteman.

I am also a nurse practitioner in developmental pediatrics and see and treat children with autism, and a few of these kids have been found to have metabolic disease. . If I may be of assistance in any of your questions regarding your 22 month old son, please email me at stonbuck@... and we can talk. If your child has a place on the autism spectrum, at 22 months, now is the time to start the intensive science-based treatments known to assist with autism WHILE treating the mitochondrial disease. Both need to be addressed, but I find that the mitochondrial disease is usually the primary disorder in 'mito-pdd'. Dr. Marvin Natowicz and Kelley have written and spoken specifically about mitochondrial-related pervasive developmental disorder (a subgroup of autism attributed to mito disease).

Best regards,

Terri Buckley

[Guest guest]

I have been reading all the posts about treatment for autistic spectrum. My daughter is also 22 months and in the autistic spectrum (although not autistic), she has been on her mito cocktail for almost a year and on Carnitor for 1 1/2 years. I did not know there was any treatment for autistic spectrum disorders. She is also starting speech therapy, possible OT, and having a MRI on Tuesday because of her current regression. Can someone please let me know the specific treatments available for autistic spectrum disorders? I just thought these were traits we would have to live with, and hope they don't get worse. Thanks

[Guest guest]

,

I also have a son with mito-PDD, and I agree with Terri that now is the

time to start intensive treatment both to augment mitochondrial

function and treat the language and behavioral manifestations of PDD.

I wish that Evan could have gotten proper medical treatment in the

beginning, but it took years to get diagnosed. He started on the mito

cocktail minus Carnitor in 1999 (I started him on it when his endo

first mentioned mito) and he has not experienced a lasting setback in

the past 4 1/2 years. Prior to starting the cocktail he was losing

muscle, becoming increasingly fatigued, and experiencing huge setbacks

when he got sick. After starting carnitor and nighttime carb loading

were added after he was diagnosed with unspecified mito in 2002, and he

finally started to put on weight appropriately. He is 12 1/2 now and

doing much better despite his two recent ER visits to get his head

stapled back together (after bumping it on the fireplace hearth) and

for his broken foot (after tripping in the house). All of this

happened in the past three weeks--prior to these accidents he had never

been to the ER for an injury. On crutches, he is an accident waiting

to happen. I pray that he makes it through the 4 weeks without another

ER trip.

According to Dr. Kelley from Kennedy Krieger (a leading expert on mito

PDD), early and careful evaluation and treatment of children with

autism "may rescue young children from more severe brain injury". Dr.

Kelley thinks that some mito-PDD kids have complex I defects. Here are

the diet recommendations for Complex I--"In patients with complex I

deficiency, the addition of extra fats to the diet should

theoretically result in more energy production. This is because the

metabolism of protein and carbohydrate produces electrons that must

flow through complex I, which is obviously not working properly in

complex I deficiency, but fats produce electrons that in addition to

flowing through complex I, also produce electrons that can flow

through complex II (bypassing complex I). Therefore, if complexes II,

III, IV, and V are working properly, fats should be slightly more

effective in energy production. A small clinical study yielded mixed

results, with some patients improving and others not."

Terri, have your boys' doctors recommended a diet with increased fats?

Here is the summary of Dr. Kelley's lecture at the Mitochondria

Interest Group Minisymposium in March of 2000.

http://tango01.cit.nih.gov/sig/mito/webversion.pdf

scroll down to page 12

10. Kelley Kennedy Krieger Insitute, Baltimore,

MD~`~s Hopkins University kelle_ri

Abnormalities of Mitochondrial Metabolism in Children with Autistic

Spectrum Disorders

Although developmental delay is a common characteristic of children

with disorders of mitochondrial metabolism, classical autism, Asperger

syndrome, and pervasive developmental disorder (PDD) have not commonly

been associated with mitochondrial disease. Because our institution

serves a large number of children with developmental disabilities, we

have had the opportunity to diagnose many metabolic diseases among

children with autistic spectrum disorders, including defects of organic

acid, sterol, and mitochondrial metabolism. Among these, mitochondrial

disease is the most common diagnostic category and represents a

clinically significant fraction of autistic children. Although we find

a variety of autistic phenotypes to have associated mitochondrial

abnormalities, the most common is nonspecific PDD,

typically of a form that manifests language and cognitive regression or

stagnation during the second year.

Most surprising among multiplex families is that the biochemical and

clinical makers of mitochondrial disease often segregate in an

autosomal dominant manner. Although no molecular lesion has yet been

found in the autosomal dominant families, the biochemical findings are

most consistent with abnormal mitochondrial complex I activity.

Moreover, when identified below the age of two years, affected children

often respond to therapy designed to augment complex I activity. We

propose that, like the basal ganglia, areas of the brain important in

language development and personal social interaction are especially

vulnerable in the first two years to injury mediated by defects of

mitochondrial energy metabolism, and that early and careful evaluation

of autistic children for these more subtle mitochondrial disturbances

may rescue them from more severe brain injury.

[Guest guest]

> ,

has been on high dose riboflavin (particularly for the mito

GAIII) and has responded well to it. She was on 800mg (400bid) and

had little or no fits. Her doc , on a whim, decreased it to 100bid

in the winter and became a mess. Crying and 3-4 45min fits a

day. We have increased her back to 300am and 200pm and she is good

again. Riboflavin in water soluable so whatever is not used is

excreted. The only bad thing about it at all it that it turns

everything yellow-m poop and pea and it stains very bad.

The doc also wants to go on a gluten and casein free

(wheat, rye and barley and milk free) diet. We are going to give it

a shot.

Good luck and I hope this helps, Dawn