Friday, June 3, 2011

Jenny McCarthy talks autism in Lombard

Jenny McCarthy talks autism in Lombard

Celebrity Jenny McCarthy was the keynote speaker Saturday during a conference on autism last week at the Westin Hotel, 70 Yorktown Shopping Center in Lombard.
The five-day conference began May 25 and was organized by the nonprofit group Autism One. One of the group’s and McCarthy’s main messages is that autism is caused by vaccines. However, many medical professionals disagree.
“I don’t think there is any evidence for that,” said Dr. Kathy Ellerbeck, who sits on the
Autism Subcommittee for the Elk Grove Village based-American Academy of Pediatrics, but practices in Kansas City.
She said British medical researcher Andrew Wakefield, who first suggested a link between vaccines and autism in 1998, has been thoroughly discredited as fraudulent.
But the fear Wakefield helped spread has caused even greater concern, doctors said. Diseases once thought eradicated, such as measles, are beginning to re-emerge because of concerned mothers who are refusing to vaccinate their children, according to doctors.
“In some places in the country, you’re getting pockets of about 20 percent of kids that aren’t immunized,” Ellerbeck said. “It is a very dangerous thing for public health.”
She said there were three recent cases of measles in Kansas City.
Locally, Dr. Perniya Masood, who practices pediatrics at Delnor Hospital in Geneva and at an office in St. Charles, said she recently almost had a patient die of “whooping cough,” which was thought to be eradicated decades ago.
“It really puts us in a bind,” Masood said. “We’re here to help patients. Unfortunately, sometimes there are consequences (to not being vaccinated.)”

Autism's apparent rise, fears, understanding play out locally

A typical day for the Guzniczak family in Geneva is almost like that of any other family — they eat breakfast, get dressed, go to school and work and come home.
The exception is that their son, 9-year-old Gavin, has autism.
As a result, the family has adjusted and tries seeing the world the way Gavin does.
“He thinks in pictures, and we have found that when we show him rather than tell him what he is doing that day, he is less anxious and able to transition from one activity to another,” said his mother, Kelly Guzniczak.
Gavin’s visual schedule is on the family fridge includes the day of the week at the top, followed by a picture of school and his teacher, then either a picture of his speech therapist and the therapist’s office or the family’s home, depending on where he’s going.
As Guzniczak, her husband Vince, and their two daughters learned to understand Gavin’s autism, the medical community also is beginning to paint a clearer picture of the disorder.

Apparent increase
Last month, a South Korean study published in the American Journal of Psychiatry showed autism could be twice as more prevalent in developed countries — at a rate of 2.6 percent — than doctors originally thought.
Autism is a disorder characterized by social impairments such as a lack of basic intuition about people, communication difficulties such as lack of speech and restricted or repetitive patterns of behavior such as compulsiveness. The Center for Disease Control estimates an average of 1 in 110 children in the United States have some form of autism.
But the study suggests the occurrence of autism in a developed country could be as high as 1 in 38 children.
Yet some doctors attribute the numbers to better diagnosis.
“There’s a more unified diagnostic criteria and more awareness,” said Dr. Perniya Masood, who practices pediatrics at Delnor Hospital and in St. Charles. “I think there’s an earlier detection.”
Masood screens toddlers with an autism checklist, which includes asking parents nine questions such as “Does your child ever pretend, for example, to make a cup of tea using a toy cup and teapot, or pretend other things?” and “Does your child ever use his/her index finger to point, to indicate interest in something?” If the answer is “no,” the child could be at risk for autism.
The list is a tool for general practice physicians to use for referral to a specialized physician.
A 2009 study in the Journal Pediatrics showed that about 1 percent of children in the U.S. have autism compared with 0.0001 percent 25 years ago. The criteria to diagnose autism was broadened in 1994, and included Asperger’s syndrome as a milder form of autism.
“We are diagnosing kids (with autism) we wouldn’t have diagnosed 10 to 15 years ago,” said Dr. Kathy Ellerbeck, who sits on the autism subcommittee for the Elk Grove Village based-American Academy of Pediatrics, but practices in Kansas City, Mo.
Ellerbeck said doctors now screen for symptoms of autism at 18 and 24 months of age. She said there’s still some debate in the medical community about whether the apparent increase is due to a better diagnostic process or a real increase in its occurrence.
Locally, some groups that deal with autism have seen more of a need. Carolyn Nagle, executive director for the Fox Valley Special Recreation Association, said the number of children with autism in summer camp jumped 16 percent last year compared to 2009.
In addition, the Geneva Park District is increasing its budget this year for aid workers who handle children with autism by $37,000 from two years ago.
Meanwhile, doctors said the best treatments are varying levels of behavioral therapy.
“I think medications should be used very carefully,” Ellerbeck said. “Intensive behavior intervention appears to be the most effective way to approach this.”

A unique family

Because they have a child with autism, the Guzniczaks can’t do many of the same activities as other families. For example, they can’t just take a quick walk in the park.
“It isn’t because Gavin doesn’t like this activity. It’s because he doesn’t want to return home,” Kelly said. “This is an activity that we would have to do for a lengthy period of time to avoid a major meltdown.”
However, Gavin loves going to Kane County Cougars baseball games and can do so without incident.
“We call that a normal family experience,” his mother said.
Gavin was diagnosed with autism when he was 5, but Kelly said he presented some typical behaviors of autism much sooner. He was born 16 weeks early and had developmental delays in motor skills and communication, but wasn’t catching up in certain areas as preemies tend to do. Vince Guzniczak said Gavin likes only certain TV shows such as “Phineas and Ferb” and “SpongeBob SquarePants.”
“He does best with a routine,” Vince said. “He has certain things he likes to do.”
Part of Gavin’s routine is attending a self-contained classroom through the Mid-Valley Special Education New Pathways program in St. Charles. It’s a smaller classroom specifically for children with autism. There, Gavin has gym, recess, music, social studies and science.
Gavin has a high form of autism and lacks speaking skills. He uses a combination of a picture exchange system and a Dynavox voice output computer to communicate.
“However, it is difficult to know, for example, if something hurts,” Kelly said. “We rely heavily on his behaviors and body language. This is fine for his immediate family who know him so well, but difficult for those who aren’t around him.”
Kelly said Gavin is an engaging child and they even get hugs. He sometimes plays with his sisters, 11-year-old Maya and 4-year-old Fiona, usually chasing or imitating each other and making silly faces.
Today, Gavin needs 24-hour supervision. Kelly said he has a severe oral aversion which results in eating issues and his sleep can be irregular. His lack of ability to communicate also presents the need for constant supervision. Vince said the family always has to be aware not to leave any gates open in the backyard.
“If he escapes, it could ugly,” Vince said. “He can’t speak and tell anybody where he lives.”
Although Gavin has surprised his family on occasion with his advancement, especially from using the Dynavox to communicate, his parents doubt he’ll ever be fully independent.
“We anticipate he’s going to be with us forever,” Vince said.
But there are moments of hope. Kelly realizes Gavin can do some activities on his own, but has become used to others doing it for him.
“He knows that if he waits long enough, it will be done for him,” Kelly said. “He knows he is cute and little and he works it.”

James Hobley: Judge me on dancing, not my autism

James Hobley: Judge me on dancing, not my autism

AUTISTIC dance sensation James Hobley has urged BGT fans to vote him a winner for his PERFORMANCE alone.

The youngster, who overcame his disability to dazzle judges with his fancy footwork, won huge praise when he appeared in Wednesday's semi-final.
David Hasselhoff told the 11-year-old he was an "absolute inspiration" before adding: "He's my all-time favourite to win this competition."
But James wants to be judged only on his dancing in tomorrow's ITV1 final.
He said: "It was exciting to get the comments from The Hoff but it's nerve-racking because he expects more next time."
Unknown to viewers, James had to hold his BREATH during a lot of Wednesday's performance because there was so much dry ice on the stage.
He said: "I managed quite well by holding my breath - there was much less smoke in rehearsal!
"It was so exciting and my family were really pleased, I'm just chuffed that I got through. The whole experience has helped me with my confidence."
BGT is not the first time viewers have seen James, from Redcar, North Yorks. At the beginning of last year he was on Sky1's Got To Dance.
Host Davina McCall said at the time: "He's a gifted dancer and dancing has helped him in the most amazing way."
James - who puts in a staggering FIVE HOURS of training each day - desperately needs the £100,000 BGT prize to pay for his ballet training. He explained: "I have a sponsored place at ballet school in September but it will not take me as far as the sixth form.
"I would have to leave then because we couldn't pay. All I really want to do is to dance.
"People say I'm like Billy Elliot but I would rather be known just for being myself."

The Adult Brain Requires MeCP2 For Proper Functioning

The Adult Brain Requires MeCP2 For Proper Functioning

A paper published online in Science provides evidence that the Methyl-CpG-Binding Protein 2 (MeCP2) is required throughout life to maintain healthy brain function. The findings are reported from the Baylor College of Medicine lab of Huda Zoghbi, HHMI investigator and Director of the Jan and Dan Duncan Neurological Research Institute.

Mutations in MeCP2 cause the autism spectrum disorder Rett Syndrome, and have been seen in some cases of classic autism, childhood schizophrenia and milder neuropsychiatric conditions such as anxiety and learning disabilities.

Rett Syndrome strikes little girls almost exclusively, with first symptoms usually appearing before the age of 18 months. These children lose speech, motor control and functional hand use, and many suffer from seizures, orthopedic and severe digestive problems, breathing and other autonomic impairments. Most live into adulthood, and require total, round-the-clock care.

Using sophisticated genetic engineering tools, Christopher McGraw, an MD/PhD student in the Zoghbi lab, inhibited production of the Mecp2 protein in mature adult mice at 9 weeks of age. He characterized the mice and found that by 19 weeks the animals began displaying symptoms reminiscent of the classic Rett Syndrome mice which are missing Mecp2 protein from conception: impaired gait and locomotion, hind-limb clasping, motor abnormalities, impaired learning and memory. Lethality in both sets of mice took place approximately 13 weeks after removing MeCP2.

Rett Syndrome has been considered a neurodevelopmental disorder, due to the onset of symptoms in early childhood. The appearance of these symptoms after removal of Mecp2 in adult mice suggests that there may be no discrete time period during which MeCP2 is critical for normal development, and argues against categorizing the disorder as neurodevelopmental.

Joshua Sanes, the Director of the Center for Brain Science at Harvard and Professor in Harvard's Department of Molecular and Cellular Biology, commented on the broader impact of Zoghbi's findings. "This work not only sheds new light on the pathogenesis of Rett Syndrome, but also raises fascinating questions about a central dogma in neuroscience - that genes affecting the brain act differently during the "critical period" than they do in adulthood. In at least some instances, Zoghbi's result tells us, this may not be the case." Sanes was not involved in this work.

The findings are also valuable from a clinical perspective, since they suggest that certain potential treatments for the disorder, such as small molecule drugs, may need to be maintained throughout the lifetime of individuals afflicted with Rett Syndrome.

"Given the parallels between autism and Rett Syndrome with regard to age of onset of symptoms and clinical features, these findings raise the possibility that several autism spectrum disorders might indeed result from failure of maintaining neuronal function rather than alterations of key developmental programs," says Zoghbi.

Monica Coenraads, Executive Director of the Rett Syndrome Research Trust which helped fund this work, and mother of a teenaged daughter with Rett Syndrome, says "Although Rett is a relatively rare disorder, it provides opportunity for broader neurological insights. Huda Zoghbi's new work challenges some central tenets in neuroscience. It is gratifying to see that Rett research is teaching us important lessons about the brain."

Monica Coenraads
Rett Syndrome Research Trust


Autism blurs distinctions between brain regions Erodes molecular identities in cortex – NIH-funded study

Autism blurs distinctions between brain regions

Erodes molecular identities in cortex – NIH-funded study

Autism blurs the molecular differences that normally distinguish different brain regions, a new study suggests. Among more than 500 genes that are normally expressed at significantly different levels in the front versus the lower middle part of the brain’s outer mantle, or cortex, only 8 showed such differences in brains of people with autism, say researchers funded in part by the National Institutes of Health.
"Such blurring of normally differentiated brain tissue suggests strikingly less specialization across these brain areas in people with autism," explained Daniel Geschwind, M.D., Ph.D., of the University of California, Los Angeles, a grantee of the NIH’s National Institute of Mental Health. "It likely reflects a defect in the pattern of early brain development."
 Graph displaying genetic differences of autism
A module of co-expressed genes that code for neurons and their connections tend to be under-expressed in many individuals with autism (red), compared to controls (gray).
He and his colleagues published their study online May 26, 2011 in the journal Nature. The research was based on postmortem comparisons of brains of people with the disorder and healthy controls.
In fetal development, different mixes of genes turn on in different parts of the brain to create distinct tissues that perform specialized functions. The new study suggests that the pattern regulating this gene expression goes awry in the cortex in autism, impairing key brain functions.
"This study provides the first evidence of a common signature for the seemingly disparate molecular abnormalities seen in autism," said NIMH director Thomas R. Insel, M.D. "It also points to a pathway-based framework for understanding causes of other brain disorders stemming from similar molecular roots, such as schizophrenia and ADHD."
In an earlier study, the researchers showed that genes that turn on and off together at the same time hold clues to the brain’s molecular instructions. These modules of co-expressed genes can reveal genetic co-conspirators in human illness, through what Geschwind and colleagues call "guilt by association." A gene is suspect if its expression waxes and wanes in sync with others in an illness-linked module.
Using this strategy, the researchers first looked for gene expression abnormalities in brain areas implicated in autism – genes expressed at levels different than in brains of healthy people. They found 444 such differently expressed genes in the cortexes of postmortem brains of people with autism.
Most of the same genes turned out to be abnormally expressed in the frontal cortex as in the temporal cortex (lower middle) of autistic brains. Of these, genes involved in synapses, the connections between neurons, tended to be under-expressed when compared with healthy brains. Genes involved in immune and inflammatory responses tended to be over-expressed. Significantly, the same pattern held in a separate sample of autistic and control brains examined as part of the study.
Autistic and healthy control brains were similarly organized -- modules of co-expressed genes correlated with specific cell types and biological functions.
Yet normal differences in gene expression levels between the frontal and temporal cortex were missing in the modules of autistic brains. This suggests that the normal molecular distinctions — the tissue differences — between these regions are nearly erased in autism, likely affecting how the brain works. Strikingly, among 174 genes expressed at different levels between the two regions in two healthy control brains, none were expressed at different levels in brains of people with autism.
An analysis of gene networks revealed two key modules of co-expressed genes highly correlated with autism. One module was made up of genes in a brain pathway involved in neuron and synapse development, which were under-expressed in autism. Many of these genes were also implicated in autism in previous, genome-wide studies. So, several different lines of evidence now converge, pointing to genes in this M12 module (see picture below) as genetic causes of autism.
A second module of co-expressed genes, involved in development of other types of brain cells, was over-expressed in autism. These were determined not to be genetic causes of the illness, but likely gene expression changes related to secondary inflammatory, immune, or possible environmental factors involved in autism.
This newfound ability to see genes in the context of their positions in these modules, or pathways, provides hints about how they might work to produce illness, according to Geschwind and colleagues. For example, from its prominent position in the M12 module, the researchers traced a potential role in creating defective synapses to a gene previously implicated in autism.
Follow-up studies should explore whether the observed abnormalities in the patterning of gene expression might also extend to other parts of the brain in autism, say the researchers.
The mission of the NIMH is to transform the understanding and treatment of mental illnesses through basic and clinical research, paving the way for prevention, recovery and cure. For more information, visit the NIMH website. About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit

Reference: Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Voineagu I, Wang X, Johnston P, Lowe JK, Tian Y, Horvath S, Mill J, Cantor RM, Blencowe BJ, Geschwind DH. Nature. 2011 May 25. [Epub ahead of print] PMID:21614001


New therapies hold promise as autism treatments

New therapies hold promise as autism treatments

June 02, 2011

Two promising new treatments to aid people with autism have shown effectiveness in pilot studies conducted by an Arizona State University professor and private researchers.
Several studies indicate that children with autism often have abnormalities in critical biochemical functions that help maintain health – specifically methylation, glutathione, and mitochondrial functions.
Methylation turns proteins in the body on and off – including DNA and RNA – a function that controls gene activity.
Glutathione, a primary antioxidant, provides a defense against toxic metals in the body. Mitochondria are essentially the “factories” inside body cells that produce energy.
The research team has been developing therapies aimed at restoring or improving these functions in people with autism experiencing abnormalities.
The complete study is published in the medical journal Autism Insights.
The team includes:
• James Adams, a professor in the School for Engineering of Matter, Transport and Energy, one of ASU’s Ira A. Fulton Schools of Engineering
• Stuart Freedenfeld, physician and medical director with Stockton Family Practice, in Stockton, N.J.
• Tapan Audhya, a biochemist with the Health Diagnostics and Research Institute, in South Amboy, N.J.
• Kim Hamada, a registered nurse with Stockton Family Practice.
A common feature of the abnormalities the researchers are studying is that they are affected directly or indirectly by levels of specific substances produced by the body – ribose and nicotinamide adenine dinucleotide, or NADH.
Use of ribose and NADH supplements have been reported to boost levels of adenosine-5'-triphosphate, or ATP – a primary fuel source for the body and the brain. The supplements have also been shown to be helpful in treating chronic fatigue.
The research team explored use of ribose and NADH supplements as treatments for autism in two parallel studies using ribose and NADH.
One study investigated the effect of supplementation with NADH, an important co-factor for many enzymatic reactions in the body.
Another study investigated the effect of supplementation with ribose, a special sugar made by the body from glucose.
The studies found use of ribose and NADH supplements had similar effects, boosting levels of methylation, glutathione and ATP after only two weeks of therapy.
Levels of ribose and NADH also improved substantially, without adverse effects.   After just two weeks of therapy, one child in each group was reported to have some improvement in energy level.
The biochemistry of both NADH and ribose is well-established, as well as how both affect production of ATP, glutathione and methylation. Details are provided in the article in Autism Insights.
Adams points out that both treatments use products that are available as over-the-counter nutritional supplements.
Larger and more formal studies are needed to confirm the benefits of ribose and NADH supplements, Freedenfeld says.
But “these therapies appear to be safe and effective supportive therapies for restoring methylation, glutathione and ATP to near-normal levels in the body, and are likely to help children with autism who experience problems maintaining normal functions,” he says.
James Adams,
professor, materials science and engineering
(480) 965-3316


‘Covert Affairs’ Star Opens Up About Son’s Autism

‘Covert Affairs’ Star Opens Up About Son’s Autism


Just a few years ago actor Christopher Gorham didn’t know much at all about disabilities. Today, however, he’s front and center on USA Network’s “Covert Affairs” (Tuesdays at 10/9 central) as Auggie Anderson, a CIA agent who lost his sight while on assignment. And in real life the father of three is no stranger to the disability community either. Gorham’s son Lucas, 10, was recently diagnosed with Asperger’s syndrome.
Ahead of the season premiere of “Covert Affairs,” Gorham spoke to Disability Scoop about what it’s like to portray a character with a disability and his personal experience learning about his son’s diagnosis.

Christopher Gorham plays CIA agent Auggie Anderson on "Covert Affairs" airing Tuesdays on USA Network.
Christopher Gorham plays CIA agent Auggie Anderson on "Covert Affairs" airing Tuesdays on USA Network. (Robert Ascroft/USA Network)
Disability Scoop: What’s it like to play a character who’s blind?
Christopher Gorham: It’s very challenging, but I think that’s what makes it so rewarding. When I auditioned for the part I didn’t know any more about the blind community than most people do. I showed up with sunglasses on for my audition and the first thing they told me was, “can you please take those off?” So it was very much a learning experience for me.
Disability Scoop: How did you prepare for the role?
Christopher Gorham: I started with a phone call to an organization in Toronto called the Canadian National Institute for the Blind since we shoot the series up there. They’ve been just incredible, teaching me basics like mobility — how to walk with a cane, sighted lead — and then introducing me to people who’ve lost their sight. We go out to dinner and just see how they live their lives.
Disability Scoop: Do you feel a special responsibility to the blind community?
Christopher Gorham: Yeah, I do. The nice thing about this part is that it’s a type of person that you just don’t see on television. Not a lot of people know someone who’s blind and because of that, people don’t know how to act around blind people. They start doing crazy things. I’ll go out to dinner with a blind friend and watch the waiter just make these crazy facial expressions trying to communicate with me for some reason. I want to say, “it’s okay, you can talk to him. He’s blind. He’s not deaf. Go ahead, ask him what he wants to eat.” People don’t know what to do. So it’s satisfying that I have the opportunity to (show what life is like for those who are blind) and I hope that people see that I take it seriously.
Disability Scoop: Personally speaking, your son was diagnosed with Asperger’s syndrome not too long ago. What was that like?
Christopher Gorham: We got a diagnosis fairly late. He was 9-years-old, which is kind of the blessing and the curse of that diagnosis. Because he’s very high functioning we didn’t really know that something was off until later. It’s upsetting to hear that something is wrong with your child. At the same time, it’s a relief to know what’s wrong with your child because if you know what’s wrong then you can start to take steps to help them.
Disability Scoop: When did you first notice that something might not be right?
Christopher Gorham: Second grade was when we really knew we needed to start investigating and finding help. What we were doing didn’t seem to be working and things were getting worse and he was just getting further and further away from his peers. (He was) not understanding the subtleties of socializing, not getting sarcasm, not understanding the difference between someone who’s really being nice to you and someone who’s actually making fun of you, not understanding that all attention isn’t positive. It’s really hard for a parent when your son comes home and tells you that his best friends are the two or three kids who are actually the meanest to him.
Disability Scoop: How has this new diagnosis changed your family’s day-to-day life?
Christopher Gorham: You get the diagnosis and then instead of just taking the kids to Taekwondo after school, now suddenly you’ve got occupational therapy and you’ve got speech therapy and you’ve got the psychologist and you’ve got the behavioral specialist. Your week is filled with therapies to help support him and it becomes so hard to find the balance.
Disability Scoop: How do you manage it all while shooting the show?
Christopher Gorham: My wife is a superhero because I’m only home for a couple of nights every week or week and a half. She’s got to juggle this all on her own. We hired an assistant to come in and help out, but it’s just not the same. It’s really hard and most families don’t have available to them what I have available to me. They can’t go hire a full-time assistant to go grocery shopping. Lots of them can’t afford to have even one parent at home. I know how difficult it is for us and my heart goes out to the other parents and especially the parents whose kids have much more severe disabilities than my son has. We’re very lucky.
Disability Scoop: What made you decide to go public with your son’s diagnosis?
Christopher Gorham: I didn’t see the point in hiding it because it’s not something that we’re ashamed of. At the same time, I’m not going to make it the lead story about me and my family. I don’t plan on trotting him out in front of the cameras or having him talk about it or be the face of whatever. But I’m open to talking about my experience, what it’s like as a parent.
Disability Scoop: How is your son doing now?
Christopher Gorham: He’s just about to finish third grade and we’ve put him in a school that’s geared toward kids on the autism spectrum. It’s been a big help.
I don’t think of him as my son with Asperger’s. I think of him as my son. He’s not wrong. He’s not broken. He is who he is. We, as his parents, are going to do our best — as we do with all of our kids — to give him the best shot at having the best life he can.