New Study on Mitochondrial Dysfunction in Autism

A new study by Cecilia Giulivi and colleagues confirms that the mitochondria are dysfunctional in autism. This study once again shows that the defective mitochondria make it difficult for children with autism to handle the oxidative stress of day to day environmental challenges. The research paper was published in the recent issue of the Journal of American Medical Association Vol: 304, Number 21, Page: 2389. December 1, 2010.

The researchers from the University of California at Davis studied the mitochondrial function in children aged 2-5 years with established diagnosis of autism and compared them to age matched but genetically unrelated typically developing children. They used the data from the CHARGE (Childhood Autism Risk From Genes and Environment) study in California, which was a population based, case controlled investigation.

Mitochondria are small organelles that are responsible for the energy production needed for the cell’s function. It has been suggested that the mitochondrial dysfunction may influence the social and cognitive deficits and the altered energy metabolism may affect the processes highly dependent on energy such as neurodevelopment.

Unlike previous studies, where the mitochondria from muscle tissue were analyzed, the authors of this study studied the mitochondria from the blood samples of these children. They studied the oxidative activity of the mitochondrial enzyme NADH, hydrogen peroxide production, plasma pyruvate and lactate levels, deletions and over-replications of the mitochondrial DNA.

The results show that the oxidative activity in the mitochondria of children with autism was one third (4.4 vs 12) that of the typical children, and the mitochondrial dependent oxygen consumption was impaired. “The increased oxygen reactive species production observed in this study is consistent with the higher ratio of oxidized NADH to reduced glutathione in the cells and the mitochondria of the children with ASD, supporting the concept that these cells from children with autism present higher oxidative stress”, the authors note.

80% of the affected children had three times higher level of pyruvate in the plasma. This was considered to be due to the deficiency of PDHC (pyruvate dehydrogenase complex). PDHC deficiency could contribute to brain dysfunction. Since the gene encoding the PDHC is located on the X chromosome, mutation in the X-linked gene may explain the 4:1 ratio of autism between boys and girls.

The study also showed that the children with autism had twice the mitochondrial rates of hydrogen peroxide production. “ Thus the mitochondria in autism had a lower oxidative phosphorylation capacity but also contributed to the overall cellular oxidative stress”, the authors commented.

Of the children with autism, 20 % had deletions and 50 % had over-replication of the genes in the mitochondria. It is hypothesized that the over replication of the mitochondrial DNA may be an attempt by the cell to overcome the defective mitochondria in the cells.

The authors state that “whether the mitochondrial dysfunction in children with autism is primary (genetic and possibly causative factor) or secondary to as-yet unknown (environmental injury) event, remains the subject of future work”.

The funding for this study was provided by University of California, MIND Institute Gift Funds, National Institute of Environmental Health Sciences, and Autism Speaks. The study is published in JAMA, December 1, 2010, The abstract of the article can be accessed here: Abstract

Khalid Rehman, M.D.

Raun Kaufman Presents on the Son-Rise Program

Sabeeha Rehman, Raun Kaufman and Mark Raisbeck at Rebecca School.

Raun Kaufman presented at Rebecca school about his own recovery from Autism Spectrum Disorder and the development of the Son-Rise program created by his parents. Raun Kaufman was diagnosed at 18 months as severely autistic and went from a mute, disconnected child with an IQ below 30 to an outgoing, social boy with a high IQ through the work his parents did with him. He described his transformation from a boy who was constantly spinning plates, rocking back and forth and flapping his hands to the outgoing social person he is now and how his parents relentless efforts healed his brain. After healing their son, Barrie and Samahria Kaufman, went on create the Autism Treatment Center of America, a teaching center for the Son-Rise Program, where parents can go to learn how to implement the Son-Rise Program at home.

A key part of the Son-Rise program is that instead of discouraging stimming, you join your child when they stim in order to create a connection and form a relationship. Through this joining, and the connection, you enter the world of the child in order to eventually draw them out. Unlike ABA, which rewards behavior with discreet trials and discourages stimming, the Son-Rise program seeks to use the motivation and interests of the child in order to get them to learn and connect. Raun Kaffman spoke about how when parents join their child stimming using the Son-Rise Program techniques, not only did they understand their children better and the reason for the children's repetitive behavior, but the stimming often dramatically decreases. He spoke of his own fascination with spinning plates as a child and said "Every time I would spin a plate, my parents would spin with me. The more they joined me, the more I would look at them." The program has a very specific way to implement learning into the joining.

To see how the Son-Rise program works, you can view the Son-Rise Program-Responding to Verbal Communication video on youtube on the Autism Treatment Center of America channel.


There are many Son-Rise program videos that you can watch on YouTube or you can look into attending the five day Son-Rise Program Startup to learn how you can implement this program.

Besides the practical advice about the things you can do to help heal your child, Raun also spoke about parents needing to "enjoy, delight and savor the kids we have now" and not be so fixated and so busy fixing them that we lose the connection. If you have a chance to hear Raun Kaufman speak, he really has an amazing, inspiring story to tell. You can also see him speak on Strategies for Autism Treatment on the Autism Treatment Center website.

Book Reading by Kim Stagliano: "All I Can Handle. I'm No Mother Teresa"

Kim Stagliano with Sabeeha Rehman

On Nov. 10, Kim Stagliano gave her first book reading, of her first book - at NAA NY Metro. What a unique way of introducing one's book! She was packed with humor - and her story is not funny. Actually it is heart-wrenching, but Kim got through it with her sparkling sense of humor and sheer determination. For those of you who don't know, Kim has three girls with autism. Three girls! Three beatiful girls. Just think about it. And that is what this book is about. But it is more than that. It is a book about survival; its a book about beating the odds; and its a book about emerging through the trials and tribulations of unemployement, huge health issues, moving in and out of one home after another, financial collapse, and just about anything and everything that you don't want to deal with if you had a choice. And Kim emerges with a shine and a smile, mesmerizing her audience with her wit, loveliness, and charm. Kim's memoir is a superb book! She makes you laugh, makes you cry, makes you wince, makes you cringe, makes you angry, and gives you hope. Can a book on autism be funny? This one is. Read it. That is a direct directive.

Read all about Kim's Kimoir at: http://kimstagliano.blogspot.com/

Sabeeha Rehman

Autism/Asperger's Conference - "All Ages & Abilities"

Temple Grandin with Sabeeha Rehman

On Oct. 23-24, we held our third annual conference in NYC in collaboration with Autism Conferences of America, the organizer of the conference. Attendees came from all over the city, the State, out-of-state, and from all over the country. Parents, educators, caregivers, doctors - all filled the conference space to capacity.

With Temple Grandin as the keynote speaker, followed by Eustacia Cutler, her amazing mother, there was standing room only. Temple brought the house down with her incredible journey and the audience hung on to every word she said. To say that Eustacia Cutler was inspirational, is an understatment. There was not a dry eye in the room when she closed. Stephen Shore, also diagnosed with Aspergers, gave us key tools on how to integrate the social needs of children with ASD into a regular teaching experience. Ginny Hodge presented practical tips on how to enable children to adapt into a community setting, like using public transportation, grocery shopping, etc. Our Day 2 keynote speaker, Diane Twachtman-Cullen provided a comprehensive instruction on addressing an impaired executive function through the educational system, and how to develop social skills for all levels of functioning. Ken Bock gave a very concise, complete, and detailed overview on biomedical approaches to treatment. Dr. Marvin Boris outlined some of the current and groundbreaking approaches to treating immune dysfunction, generating a lot of spirited discussion.

There was fun time, with coffee breaks, raffles, and door prizes. The exhibits generated tremendous interest and a tremendous opportunity to network.

Many thanks to Jim Adams and Jerry Lundy at Autism Conferences for bringing this conference to us every year, to our exhibitors for bringing their wares to us, and to our attendees for being part of this learning experience. Thank you to our wonderful team at NAA NY Metro for volunteering their time - Kim, Peggy, Stuart, Amy, Kirstin, and Kathleen.

Sabeeha Rehman

New Research and Treatments to Restore Language in Children with ASD

Debra Schneider and Mary Coyle with Dr. Harry Schneider

On Oct. 26, 2010, we held the second in a series of lectures by the chapter authors in the new book, “Cutting Edge Therapies for Autism”. Harry Schneider, PhD, MD gave a fascinating presentation on new research and treatments to restore language in children with ASD. Dr. Schneider outlined the reasons why children with classical autism cannot speak the way neurotypical children do. In his soon to be published study on functional neuro-images of the brain, he showed what parts of the brain do not work for language, and the incomplete neural connections in these children. He presented the results of more than four years of treating these children with transcranial direct current stimulation (tDCS). Many of his patients are now talking – there are those who can finally state their needs and respond to commands, and those who are ready to return to mainstream education.

When a grandmother of a child with ASD stood up and spoke about how her grandson has recovered his speech, thanks to Dr. Schneider’s treatment, everyone in the audience was touched.

Dr. Schneider is an associate research scientist in the Functional MRI Research Center of Columbia University, having received a fellowship in neuroscience and functional neuroimaging at their Program for Imaging and Cognitive Sciences (PICS). He is in private practice at the Center for Medical and Brain Sciences in Plainview, NY, and uses both conventional and alternative medicine in his approach to the medical care of children on the spectrum. Check the website at: www.harryschneidermd.com

Sabeeha Rehman

How to be Your Child's Best Advocate

Mary Somoza holds up her daughter's photo with Bill Clinton

At the Parent Network Exchange Meeting held on Oct. 14, 2010, Mary Somoza gave one of the most inspirational talks that I have heard. This is one speaker that I would want to listen to over and over again. We walked out feeling empowered, motivated, inspired, and ready to hit the gound running – a wet one, because it was still raining hard when we left.

Mary Somoza is the mother of two children with special needs, one being paraplegic. She succeeded in getting the most and the best of what her children needed, against all odds, and now her children are in college. Her amazing story was not missed by the President of the United States, who is seen in this photo with her daughter. Mary now teaches parents how to be the best advocate for your child. Whether you are asking for your child's school to adhere to a special diet or need a particular service that they have already denied you, Mary gave us her years of experience raising two children with special needs and navigating through some very difficult school systems.

Mary believes that every child has more abilities then disabilities. Some of those abilities yet to be discovered. Children cannot afford to lose time, not with initial services, or with their education. Getting your child on the right track can be the difference between academic success, and falling behind.

We would like to invite Mary to come back again. Look out for the notice. Meanwhile, Mary can be reached at: mary@marysomoza.com

Sabeeha Rehman

How Food Influences Behavior in Children and How to Keep Your Child's Immune System Strong

Stacey Purow, Geri Brewster, and Kirstin Boncher

A collaborative event with Beth Israel Medical Center was held on Sept. 30, 2010 at the Medical Center. Geri Brewster, RD MPH CDN, and Kirstin Boncher presented and held an interactive dialogue on this topic. Many thanks to Dr. Asma Sadiq and Stacey Purow for hosting the event.

Kirstin talked about her story as a mom of two children with Celiac disease, and how she helped them recover through dietary intervention. She enthralled the audience with her success story, her trials and tribulations, and her ‘days-in-the-life’ of a mom facing challenges. She walked the audience through the scientific research to support her conclusions, and wove her anecdotes into the narrative. A lively discussion ensued as every mom in the audience, completely able to relate to her, wanted to know what to do in their ‘what-if’ scenarios. Kirstin, who is a graduate of the French Culinary Institute, has written extensively on the importance of healthy fats for brain development, and publishes the widely read blog What To Feed Your Kids at http://whattofeedyourkids.blogspot.com/ .

Geri talked about how a specific diet may be able improve your child's health and reduce behavioral symptoms such as stimming, night waking, and tantrums while improving eye contact and language development as well as influence immunity. Geri focused on gut issues and their genesis. Her illustrative handout on what foods to avoid, is the perfect refrigerator pin-up. Geri, who has specialized in pediatric and young-adult developmental disabilities for nearly 30 years, is a Defeat Autism Now! Practitioner, hosts a monthly radio show on AutismOne.com, and has developed comprehensive lifestyle, nutritional and supplement programs. Vist her website at: http://www.geribrewster.com/

Sabeeha Rehman