Archive | December, 2010

Risperidone-Induced Weight Gain in Referred Children with Autism Spectrum Disorders

30 Dec

Risperidone, also known as Risperdal, is the one drug FDA approved for treatment of irritability and behavior issues some autistics have. According to Vincent Iannelli, M.D., at about.com, these include:

* aggression
* deliberate self-injury
* temper tantrums
* quickly changing moods

Risperidone is serious medicine, and as such has side effects that can occur. Again, according to Dr. Iannelli:

The most common side effects of taking Risperdal include drowsiness, constipation, fatigue and weight gain. The drowsiness is sometimes a ‘good’ side effect, as many kids who take Risperdal do not sleep well, which adds to their behavior problems during the day.

as well as

Ask your doctor about other less common, although more serious side effects, including neuroleptic malignant syndrome, tardive dyskinesia, and hyperglycemia and diabetes.

There are also questions as to whether Risperidone loses effectiveness with long term usage.

One of the most commonly discussed side effects is weight gain. A recent study gives preliminary findings indicating that this weight gain may be associated with the genetic makeup of the person taking the drug.

Here’s the abstract:

Risperidone-Induced Weight Gain in Referred Children with Autism Spectrum Disorders Is Associated with a Common Polymorphism in the 5-Hydroxytryptamine 2C Receptor Gene.

Hoekstra PJ, Troost PW, Lahuis BE, Mulder H, Mulder EJ, Franke B, Buitelaar JK, Anderson GM, Scahill L, Minderaa RB.

1 Department of Psychiatry, University Medical Center Groningen, University of Groningen , Groningen, The Netherlands .
Abstract

Abstract Weight gain is an important adverse effect of risperidone, but predictors of significant weight gain have yet to be identified in pediatric patients. Here, we investigated differences between age- and gender-normed body mass index-standardized z scores at baseline and after 8 weeks of open-label, flexible-dose risperidone treatment (mean dose: 1.70?mg/day) in 32 youths with pervasive developmental disorder (mean age?=?8.74, range?=?5-16 years) in relation to -759C/T 5-hydroxytryptamine 2C receptor (HTR2C) promoter and rs1414334 HTR2C intragenic C/G alleles, along with gender, age, and risperidone dose, using repeated measures analyses of variance. Carriers of the HTR2C promoter T allele gained an average of 0.043?±?0.017 body mass index-standardized z scores (1.84?±?1.51?kg) versus 0.64?±?0.35 z (3.23?±?1.47?kg) for non-T-allele carriers (p?<?0.001). Presence of the rs1414334 C allele played no significant role. Further, weight gain appeared to be associated with younger age and higher doses of risperidone. The current preliminary findings suggest that the variant T allele of the -759C/T HTR2C promoter polymorphism is protective against risperidone-induced weight gain. Younger children and those treated with higher doses of risperidone may be at higher risk for weight gain.

Neurodiversity.com compiled a list of articles on Risperdone.

More information on the clinical trials of risperidone can be found in this article
Risperidone in the treatment of behavioral disorders associated with autism in children and adolescents.

Risperidone in the treatment of behavioral disorders associated with autism in children and adolescents.

Canitano R, Scandurra V.

Division of Child Neuropsychiatry, University Hospital of Siena Siena, Italy.
Abstract

This is a review of the clinical trials investigating the efficacy and safety of risperidone in the treatment of children with autistic spectrum disorders (ASD). The main clinical characteristics are impairment in social skills, communication difficulties, repetitive movements and behaviors, including stereotypies. Pharmacotherapy is mainly directed at the so-called target symptoms, ie, behavioral disorders and the various kinds of repetitions associated with ASD. According to the available data, risperidone seems to be moderately efficacious and safe for treating behavioral disorders. 4 double blind controlled trial. 3 reanalysis studies, and 12 open studies have documented the role of risperidone in children with ASD. Controlled studies have been thoroughly considered in this review.

The paper is free online, and includes discussion of effectiveness and adverse reactions to the drug as well as a commentary on the unknown effect of long-term use on the developing brain.

Deadly Choices: The myth of the mild disease

29 Dec

I’ve started reading Deadly Choices and goodness me its a breath of fresh air in terms of factual analysis and also writing skill. The last autism book I read was Age of Autism so you’ll appreciate how great the difference is.

I’ll be blogging about Deadly Choices a fair bit I guess and I guess Sullivan will too (after all he is Bonnie Offit) and in this first blog post I want to discuss why the idea that certain illnesses are perceived (and indeed promoted) by the anti-vaccine lobby as mild and therefore of no risk – just another excuse to stick us all with another needle containing who knows what!!

The book Deadly Choices, makes this point crystal clear in the Introduction. Regarding a Hib outbreak in Minnesota:

[parents]…were afraid that vaccines contained dangerous additives, or that children received too many vaccines too soon; or that vaccines caused autism

…

…one mother reconsidered her decision: ” the doctor looked at me and said, ‘Your son is going to die, he doesn’t have much time.’ Honestly, I never really understood how severe the risk [was] that we put our son at.”

Deadly choices indeed.

And what about mumps? In 2009, an outbreak caused by an unvaccinated traveller coming back from England caused a chain reaction that infected over 1500 people in 8 months. The end result?

When it was over, mumps was found to have caused pancreatitis, meningitis, deafness, facial paralysis or inflammation of the ovaries in sixty-five people, nineteen were hospitalised.

Hib and mumps are just two of the diseases previously easily controlled by vaccines that are now becoming rampant again due to poor vaccination rates and the fact that such deadly and crippling diseases are now just a plane ride away.

NIMH’s Top 10 Research Events and Advances of 2010

29 Dec

The National Institute of Mental Health (NIMH) in the U.S. has a blog post up discussing NIMH’s Top 10 Research Events and Advances of 2010.

7) The autistic brain. Autism spectrum disorder (ASD) has been recognized as a disorder of brain development, but there have been few clues to what is different in the brain of someone with ASD. Several papers this year described differences in structure of brain regions; patterns and strength of connections between brain regions; and function of brain circuits.10-13 One intriguing brain imaging study looked at brain activity in response to social information in children with ASD, their unaffected siblings, and controls. Compared to controls, both children with ASD and their unaffected siblings showed different brain activity patterns in some regions. Remarkably, the brains of unaffected siblings appeared to compensate for the difference with additional brain activity in other regions.14

The references are:

10. Stevenson JL, Kellett KA. Can magnetic resonance imaging aid diagnosis of the autism spectrum? J Neurosci. 2010 Dec 15;30(50):16763-5. PMID: 21159947

11. Zikopoulos B, Barbas H. Changes in prefrontal axons may disrupt the network in autism.
J Neurosci. 2010 Nov 3;30(44):14595-609.PMID: 21048117

12. Schumann CM, Bloss CS, Barnes CC, Wideman GM, Carper RA, Akshoomoff N, Pierce K, Hagler D, Schork N, Lord C, Courchesne E. Longitudinal magnetic resonance imaging study of cortical development through early childhood in autism. J Neurosci. 2010 Mar 24;30(12):4419-27.PMID: 20335478

13. Ecker C, Marquand A, Mourão-Miranda J, Johnston P, Daly EM, Brammer MJ, Maltezos S, Murphy CM, Robertson D, Williams SC, Murphy DG. Describing the brain in autism in five dimensions – magnetic resonance imaging-assisted diagnosis of autism spectrum disorder using a multiparameter classification approach. J Neurosci. 2010 Aug 11;30(32):10612-23.PMID: 20702694

14. Kaiser MD, Hudac CM, Shultz S, Lee SM, Cheung C, Berken AM, Deen B, Pitskel NB, Sugrue DR, Voos AC, Saulnier CA, Ventola P, Wolf JM, Klin A, Vander Wyk BC, Pelphrey KA. Neural signatures of autism. Proc Natl Acad Sci U S A. 2010 Dec 7;107(49):21223-8. Epub 2010 Nov 15.PMID: 21078973

Autism is mentioned two more times (emphasis added)

3) DNA sequencing. The cost of DNA sequencing has dropped by a factor of 10 every year for the past few years. This new capacity to sequence rapidly and inexpensively the full genome (or candidate gene regions) is transforming psychiatric genetics. In previous years, costs have constrained full genome sequencing efforts, and investigators have compensated by using strategies to search for hints of variation in certain regions of the genome. This year, however, whole genome sequencing in multiple individuals finally became a reality. The result was the discovery of enormous genomic variation across healthy subjects, with hundreds of thousands of rare gene variants identified and, on average, each child showing 50 – 100 new mutations not present in his or her parents.3 We have also learned that autism, schizophrenia, and other neurodevelopmental disorders are associated with rare “structural” variations in the genome, sometimes involving millions of bases of DNA.4 Only through full genome sequencing efforts will we be able to understand the scope of these rare variations and their contribution to the causes of mental disorders.

4. 1000 Genomes Project Consortium, Durbin RM, Abecasis GR, Altshuler DL, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA. A map of human genome variation from population-scale sequencing. Nature. 2010 Oct 28;467(7319):1061-73.PMID: 20981092

8) Disease-in-a-dish. History may judge one of the most important discoveries in the past decade to be the creation of induced pluripotent stem cells (iPSCs): cells taken from adults, de-differentiated into a pluripotent state (in which they have the potential of becoming any cell type), and then differentiated into a mature cell type. For example, a skin cell taken from an adult can be made pluripotent and then differentiated into a neuron. This year, we saw this revolutionary technology begin to shed light on Rett Syndrome, a genetic disorder that causes autism. Marchetto et al. (Cell, Nov, 2010) derived iPSCs from patients with Rett Syndrome and then differentiated them into neurons in vitro (e.g. “in-a-dish”), with a range of abnormalities corresponding to observed neuronal abnormalities seen in Rett Syndrome patients.15 These cells were useful not only for identifying the process of developing Rett pathology but also allowed testing of potential treatments.

15. Marchetto MC, Carromeu C, Acab A, Yu D, Yeo GW, Mu Y, Chen G, Gage FH, Muotri AR. A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells. Cell. 2010 Nov 12;143(4):527-39.PMID: 21074045

Christmas break reading list

29 Dec

Mine is too big (pages and content, not number of books), and a good chunk of Christmas break has already past. That said, I set a goal for myself to read more books. And to read better books. Reading “The Age of Autism” and “Callous Disregard” had some small value. It is good to challenge one’s ideas. But these books are just poorly done and poorly written. I figured it’s time to devote some time to something that could be a bit of a benefit in education, entertainment or both.

The two main books on my shelf right now are
“The Developing Human. Clinically Oriented Embryology“.

and

Send in the Idiots

The first was suggested to me when I expressed an interest in learning more about human development, especially very early development and the brain. I got a copy very cheap, somewhat used. As long as I was perusing used books, I picked up a copy of “Send in the Idiots” as well. That one is new, with the exception of the tag put on it by the used bookstore. Send in the Idiots has been in the back of my mind since I heard the author interviewed on the NPR program “Fresh Air”.

Another book on my shelf, which will come as no surprise, is “Deadly Choices: How the Anti-Vaccine Movement Threatens Us All”. This is Paul Offit’s new book. I’ve read that already and will be discussing it here on LeftBrainRightBrain soon.

While I feel like I should be virtuous and read “The Developing Human”, I started on “Send in the Idiots” first. I don’t know if I will finish anything before I head back to work, but if I finish that I will write about it here.

Upcoming IACC Full Committee Meeting – Tuesday, January 18, 2011 – Rockville, MD

29 Dec

The Interagency Autism Coordinating Committee (IACC) creates the “Strategic Plan” which serves as the main roadmap for autism research funding in the United States.

The IACC is going to have a full committee meeting on January 18 to update the Strategic Plan.

Or, to put it simply, this is where the rubber meets the road for the IACC. If you want to have an impact–and, yes, public input does have an impact–now is your chance to submit public comments. One place to send comments is the address given in the announcemt below: IACCpublicinquiries@mail.nih.gov.

Here is a pie chart of the funding breakdown according to the categories that the IACC Strategic Plan uses.

(click to enlarge).

Figure that research takes 5-10 years to bear fruit, in general. When I take a look at that pie chart and think about what segments have the possibility of really impacting my child’s life in the relatively near future, I would like to see more money spent in areas involving older children, adolescents and adults.

Here is the IACC announcement.

Interagency Autism Coordinating Committee (IACC) Full Committee Meeting

Please join us for an IACC Full Committee meeting that will take place on Tuesday, January 18, 2011 from 10:00 a.m. to 5:00 p.m. ET in Rockville, MD. Onsite registration will begin at 9:00a.m.

Agenda: The IACC will review and approve the final 2011 update of the IACC Strategic Plan for Autism Spectrum Disorder Research.

Meeting location:
The Neuroscience Center – Map and Directions This link exits the Interagency Autism Coordinating Committee Web site and enters a non-government Web site.
6001 Executive Boulevard
Conference Rooms C and D
Rockville, MD 20852

The meeting will be open to the public and pre-registration is recommended. Seating will be limited to the room capacity and seats will be on a first come, first served basis, with expedited check-in for those who are pre-registered.

The meeting will be remotely accessible by videocast (http://videocast.nih.gov/) and conference call. Members of the public who participate using the conference call phone number will be able to listen to the meeting, but will not be heard.

Conference Call Access
USA/Canada Phone Number: 888-577-8995
Access code: 1991506

Individuals who participate using this service and who need special assistance, such as captioning of the conference call or other reasonable accommodations, should submit a request to the contact person listed above at least seven days prior to the meeting. If you experience any technical problems with the webcast or conference call, please e-mail IACCTechSupport@acclaroresearch.com or call the IACC Technical Support Help Line at 443-680-0098.

Please visit the IACC Events page for the latest information about the meeting, including registration, remote access information, the agenda, materials and information about other upcoming IACC events.

Contact Person for this meeting is:

Ms. Lina Perez
Office of Autism Research Coordination
National Institute of Mental Health, NIH
6001 Executive Boulevard, NSC
Room 8185a
Rockville, MD 20852
Phone: 301-443-6040
E-mail: IACCpublicinquiries@mail.nih.gov

Upcoming IACC Subcommittee on Safety Conference Call – Wednesday, January 12, 2011

28 Dec

The Interagency Autism Coordinating Committee (IACC) has recently added emphasis to safety concerns. The Safety subcommittee will meet on January 12.

The IACC has 4 committees:

* Full Committee
* Subcommittee for Planning the Annual Strategic Plan Updating Process
* Services Subcommittee
* Subcommittee on Safety

At present, much of the focus and the budget recommended by the IACC goes towards causation (with the majority of that of that going towards environment and gene-environment causation) and early childhood therapies. Areas like safety and services, while they have their own subcommittees, get far less budget.

One way to make that change is to show an interest. Send a public comment. Share your concerns or expertise.

Interagency Autism Coordinating Committee (IACC) Subcommittee on Safety Conference Call

Please join us for a conference call of the IACC Subcommittee on Safety that will take place on Wednesday, January 12, 2011 from 11:00 a.m. to 1:00 p.m. ET.

Agenda: The purpose of the call is to discuss a draft letter to the Secretary of Health and Human Services on issues related to autism and safety, as well as plans for future activities.

Conference Call Access
USA/Canada Phone Number: 888-456-0356
Access code: 1427016

This conference call will be open to the public. No registration is required. Members of the public who participate using the conference call phone number will be able to listen to the discussion but will not be heard.

If you experience any technical problems with the conference call, please e-mail IACCTechSupport@acclaroresearch.com or call the IACC Technical Support Help Line at 443-680-0098.

Please visit the IACC Events page for the latest information about the meeting, including registration, remote access information, the agenda and information about other upcoming IACC events.

Contact Person for this meeting is:

Ms. Lina Perez
Office of Autism Research Coordination
National Institute of Mental Health, NIH
6001 Executive Boulevard, NSC
Room 8185a
Rockville, MD 20852
Phone: 301-443-6040
IACCpublicinquiries@mail.nih.gov

Santa Claus

24 Dec

When it comes to Christmas I admit to being very orthodox in my beliefs. In particular, I believe that Santa comes at night and leaves presents for us to discover in the morning. Children are meant to wake up at some unbelievable hour like 4am and, after much discussion amongst siblings, tiptoe into their parents’ room to poke the parents and ask these groggy adults if Santa has come yet. Then begins the struggle with parents hoping against hope that they will be able to put off the inevitable until at least six AM. After many exchanges of “I think I heard him” and “no he hasn’t been here yet” parents compromise on 5:30 and strong coffee.

Nothing beats the excitement of kids rushing to open presents. It is best if you live in a two story house so the kids can run down the stairs, making as much noise as possible.

I was shocked to learn late in life that some families actually exchange gifts on Christmas eve. Sure this lets the parents sleep on Christmas day, but when is Santa supposed to sneak into the house and leave presents.

Turkey is the proper Christmas dinner main course. Cranberry sauce can be either that dark red jello substance or have berries still in it. It is so bitter (at least when you are a kid) that it is just a decoration anyway. I do have a fondness for the canned jello like version, especially if it has the shape of the can still.

The proper pie is pumpkin. Turkeys should be large enough to provide sandwiches for days. The turkey is carved before sitting down to dinner. The best slice is the one mom lets you steal as she carves.

The main concern is presents. Presents need to be under the tree well in advance of Christmas so that kids can shake them and guess what is in them. Anticipation. That’s the key.

This is how a proper Christmas is done.

For me.

In my childhood.

Parts of this tradition I share now with my own family. Parts have been modified. New traditions have been added.

For those of you with different traditions or no traditions for Christmas, I wish you well, too.

I’m a Christmas person

23 Dec

As some holidays have past and more are soon to come, I have to out myself: I am a Christmas person.

I would put myself more in the Christmas Tree and Santa camp:

Rather than the baby Jesus and midnight mass camp:

Hanukkah recently came and went recently:

But even after Christmas we still have Kwanza to look forward to:

Some may call Kwanza a “made up” holiday. Guess what, all holidays are “made up”.

The Winter Solstice has been a reason to gather and celebrate probably since before all the other “major” holidays.

And, there are many who don’t celebrate at this time of year at all.

We don’t have to think alike. We don’t have to believe alike. We don’t have to celebrate alike. There is a certain beauty and value in that.

A Christmas message of woe from Generation Rescue and Jenny McCarthy

22 Dec

I just got the Generation Rescue end-of-year fundraiser email. Jenny McCarthy tells us about how there are only two types of autism parents:

Dear Fellow Warrior,

My mantra is Never Give Up. This year, we “never gave up” in spades!

This year I had the honor of giving the keynote address at the AutismOne conference. The largest gathering of families, physicians and researchers pursuing biomedical treatment. I talked about trains. First, there’s Train A

You do absolutely everything you can for your child, no matter what anyone tells you. Then, there’s Train B: Woe is me. We are Train A People. Which isn’t always easy, right? But it’s always, always worth it.

and it goes on.

If Jenny McCarthy wants to slam other parents as “giving up” and being “woe is me” types, I guess that’s her right. She’s certainly taken a lot of criticism.

Of course, if I want to respond to her, that is my right as well.

As I near Christmas, the last thing on my mind is “woe is me”. I do still feel like I will listen to the advice of others, when they are experts, in seeking help for my child. If an expert says something like, “you know, that industrial chelator has not been tested adequately for safety or efficacy…or at all…in humans”, I take that to heart. When an expert in toxicology says, “you know, autism doesn’t actually look like mercury poisoning at all”, I take that to heart. When I read online discussions where parents are reporting adverse reactions to so-called “biomedical” approaches to treating autism, I take that to heart as well.

Safety. That is where you and I part ways, Jenny. Safety. You, your organizations and the practitioners you promote want me to “do absolutely everything”, regardless of whether it has been proven safe or effective.

It’s easier to put me in a box and tell your followers I am sitting here saying “woe is me” than to address the question of safety. Perhaps 2011 will be the year you take on the very serious question of safety.

Have a merry Christmas, Jenny. I will.

Edit-to-add:

Here is Jenny McCarthy’s message set to video.

And, also to add–

I am not on Train-A, but the A-train…no “woe is me” on the A-train.

Mitochondrial Dysfunction in Autism

22 Dec

A recent paper from the MIND Institute, published in the Journal of the American Medical Association (JAMA) entitled Mitochondrial Dysfunction in Autism caused a bit of a stir. One which is far beyond what is supported by the paper’s conclusions or data, I will add.

The study is very small: 10 autistic children and 10 controls. The authors used a very nonstandard methodology. Perhaps the best summary of this study so far can be found on the Simons Foundation blog SFARI (Defects in mitochondria linked to autism). Deborah Rudacille discusses the methodology and brings in quotes from the study’s lead author (Cecilia Giulivi) as well as established experts in the field of mitochondrial disease and autism such as Jay Gargas.

Before I get too far ahead of myself, here is the abstract:

Context Impaired mitochondrial function may influence processes highly dependent on energy, such as neurodevelopment, and contribute to autism. No studies have evaluated mitochondrial dysfunction and mitochondrial DNA (mtDNA) abnormalities in a well-defined population of children with autism.

Objective To evaluate mitochondrial defects in children with autism.

Design, Setting, and Patients Observational study using data collected from patients aged 2 to 5 years who were a subset of children participating in the Childhood Autism Risk From Genes and Environment study in California, which is a population-based, case-control investigation with confirmed autism cases and age-matched, genetically unrelated, typically developing controls, that was launched in 2003 and is still ongoing. Mitochondrial dysfunction and mtDNA abnormalities were evaluated in lymphocytes from 10 children with autism and 10 controls.

Main Outcome Measures Oxidative phosphorylation capacity, mtDNA copy number and deletions, mitochondrial rate of hydrogen peroxide production, and plasma lactate and pyruvate.

Results The reduced nicotinamide adenine dinucleotide (NADH) oxidase activity (normalized to citrate synthase activity) in lymphocytic mitochondria from children with autism was significantly lower compared with controls (mean, 4.4 [95% confidence interval {CI}, 2.8-6.0] vs 12 [95% CI, 8-16], respectively; P = .001). The majority of children with autism (6 of 10) had complex I activity below control range values. Higher plasma pyruvate levels were found in children with autism compared with controls (0.23 mM [95% CI, 0.15-0.31 mM] vs 0.08 mM [95% CI, 0.04-0.12 mM], respectively; P = .02). Eight of 10 cases had higher pyruvate levels but only 2 cases had higher lactate levels compared with controls. These results were consistent with the lower pyruvate dehydrogenase activity observed in children with autism compared with controls (1.0 [95% CI, 0.6-1.4] nmol × [min × mg protein]?1 vs 2.3 [95% CI, 1.7-2.9] nmol × [min × mg protein]?1, respectively; P = .01). Children with autism had higher mitochondrial rates of hydrogen peroxide production compared with controls (0.34 [95% CI, 0.26-0.42] nmol × [min × mg of protein]?1 vs 0.16 [95% CI, 0.12-0.20] nmol × [min × mg protein]?1 by complex III; P = .02). Mitochondrial DNA overreplication was found in 5 cases (mean ratio of mtDNA to nuclear DNA: 239 [95% CI, 217-239] vs 179 [95% CI, 165-193] in controls; P = 10?4). Deletions at the segment of cytochrome b were observed in 2 cases (ratio of cytochrome b to ND1: 0.80 [95% CI, 0.68-0.92] vs 0.99 [95% CI, 0.93-1.05] for controls; P = .01).

Conclusion In this exploratory study, children with autism were more likely to have mitochondrial dysfunction, mtDNA overreplication, and mtDNA deletions than typically developing children.

As the abstract states, the MIND Institute study methodology involved: “Mitochondrial dysfunction and mtDNA abnormalities were evaluated in lymphocytes from 10 children with autism and 10 controls”. Lymphocytes (a type of white blood cell). Children were concecutively recruited and genetically unrelated. Mitochondrial function was tested first, and given the results seen, children were brought back for a second blood draw where mitochondrial DNA (mDNA) and nuclear DNA (nDNA) were examined.

As shown in the figure below, they found that the autistic children had different mitochondrial activity levels than their controls. Note that “low” activity is not referenced to any standardized norms, but to the 10 control children.

They also performed genetic testing. Table 3 from the paper is reproduced below:

They show that, by their methodology, 7 of their 10 autistic kids have some form of genetic signature for mitochondrial dysfunction. 2 of 10 of their controls meet their criteria as well.

The Simons blog quotes the study author, Prof. Giulivi on this choice:

“Lymphocytes do not rely as heavily on mitochondria as the brain does,” she says, “so if this is happening in cells that don’t use mitochondria as much, it’s likely to be happening in cells that rely more heavily on mitochondria, like neurons.”

They also quote Dr. Fernando Scaglia, of the Baylor Clinic:

However, the unconventional decision to use lymphocytes should have been validated, says Fernando Scaglia, associate professor of molecular and human genetics at Baylor College of Medicine in Houston. “I’m not saying that studies done in lymphocytes are useless,” says Scaglia, an expert in inherited metabolic disease. “But they should be validated in other tissue.”

and Prof. Gargas of the University of California at Irvine:

“Lymphocytes are fine to study chromosomal DNA, but they are a horrible source for studying mitochondrial DNA,” he says.

Cells have hundreds of mitochondria, each with multiple copies of the DNA. In people with mitochondrial disease, some cells have healthy DNA and others have the mutated copies, he notes. In a blood sample, defective lymphoctyes tend to get lost among rapidly proliferating healthy cells.

“The best source for studying mitochondria are post-mitotic cells such as muscle,” he says. “That way you are sampling the set of cells the child was born with.”

In the end, if we stick to the idea that this is a very preliminary report and relies on a new unproven methodology at that, we can consider the study as posing interesting questions. Is mitochondrial dysfunction more prevalent in autistics than the general population? Are there ways to test this in a faster, less intrusive manner than is often used? If we take this study in context, there may be some value. Unfortunately as Seth Mnookin has already pointed out, this study has already been used to promote ideas that are clearly outside of the study and conclusions. This is the unfortunate world of autism research: it is hard for people to push the boundaries and risk being wrong. Not because it may cause the researchers some embarrassment, but because there are a multitude of people waiting to misuse information and mislead.

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