Repost from Source: Scientific Link to Autism Identified

The article below seems interesting.

Source: http://www.prnewswire.com/news-releases/scientific-link-to-autism-identified-70354482.html

Scientific Link to Autism Identified

JACKSON, N.J., Nov. 18 /PRNewswire/ -- During its research into the application of neuroscience in business, a New Jersey based think tank, The Center for Modeling Optimal Outcomes®, LLC (The Center) made an inadvertent and amazing discovery.

The Center examined the neuroscientific dynamics of logic and emotion in decision making while researching neuroscience in business. They found unique corollary relationships between various brain chemicals (neurohormones, neurotransmitters, etc.). This apparent pattern led to a new path of research for the team outside of business. By looking at extensive scientific literature they discovered a cascade of hormones that emanate from the brain (hypothalamus). This same pattern of correlations was again apparent throughout the cascade. The group added a research biologist and started to test the pattern on genes (proteins). It remained consistent. The Center then called upon advisors from chemistry and physics to see if the pattern would apply in physical sciences.

To the amazement of the group, it became apparent that this pattern of corollary relationships could be applied to scientific processes for maintaining equilibrium (homeostatic relationships) throughout all of science; from subatomic particles to chemistry as well as between biological substances.

While the entire scientific community knows that homeostasis exists, this tacit knowledge has not been converted into a step-by-step, replicable model. The Center identified precisely such an explicit process.

Challenged by several of The Center's advisors, members of the team decided to test the efficacy of the model to determine if the disruptions that cause autism could be identified.

After careful review of countless scientific studies, meeting with several renowned scientists to discuss their findings, and then applying the modeling process to numerous hypotheses, The Center's Life Sciences group was able to formulate a scientifically verifiable model for the highly probable causal path of autism. Through the application of their model, it became apparent that autism is an outcome of several variables that, when the homeostatic relationship of each one is disrupted, a "perfect storm" scenario results in autism. The application of the model identified several of the variables that account for why boys have a 4 to 1 ratio of instances over girls as well as why not every boy is affected.

While the scientific community will have to validate The Center's findings, the model for assessing homeostatic relationships indicates the "trigger" behind autism is an imbalance between a pair of amino acid neurotransmitters; glutamate and glycine.

According to The Center's founder, William McFaul, a retired business person and not a member of the scientific community, "Because of its universal applicability, our Life Sciences group has already used the model as a tool to identify highly probable causal paths for several illnesses and disease entities. Autism was one of most difficult illnesses The Center had attempted to analyze. If it hadn't been for so many parents insisting that vaccines were responsible for the condition, we might never have found the fact that the stabilizer in MMR and a few other vaccines is hydrolyzed gelatin; a substance that is approximately 21% glycine. It appears that, based on readily verifiable science, the use of that form of glycine triggers an imbalance between the amino acid neurotransmitters responsible for the absorption rate of certain classes of cells throughout the body. It is that wide-spread disruption that apparently results in the systemic problems that encompass the mind and the body characterized in today's 'classic' autism." He also added, "The use of our model indicates each of the disorders within Autism Spectrum Disorder (ASD) is attributable to different disruptions in homeostasis. We look forward to sharing our findings relative to each disorder with the scientific community."

According to Linda Oliver-Perrier, The Center's spokesperson for their Life Sciences group, "The details of the disruptive process are somewhat complex and not conducive for explanation in a press release. We have posted a more detailed explanation on our web site, www.TheCenterNJ.com/lifesciences.html." She added, "Undoubtedly, this finding based on the application of the model for homeostasis will cause immense controversy. Our Life Sciences group is prepared to meet with members of the scientific community to explain the model as well as the variables that create the 'perfect storm' that results in autism."

McFaul added, "The Center is seeking to affiliate with academic centers to provide its model for homeostasis to the scientific community for use as a tool to enable researchers to identify root causes of illnesses and disease entities. The Center is a think tank that creates models. We are not an operating company with the resources to educate individuals or organizations on the application of the models we create.

For more information about The Center go to its web site; www.TheCenterNJ.com or for information regarding its model for homeostasis, contact Linda Oliver-Perrier at loliverperrier@TheCenterNJ.com

SOURCE The Center for Modeling Optimal Outcomes LLC

Could it be the medication used during childbirth?

Source: http://www.prnewswire.com/news-releases/new-treatment-for-autism-holds-promise-69878372.html

New Treatment for Autism 'Holds Promise'

Brain waves normalize after treatment, EEG's reveal

Notice to Los Angeles media: Fred S. Starr, MD and Elaine DeLack holding seminar for physicians, members of the press, November 15, 2009 2:00 - 5:00 PM Members of the press may call (877) 963-3338 for reservations

SEATTLE, Nov. 12 /PRNewswire/ -- A new treatment for autism appears to normalize brain function, according to Nashville physician Fred S. Starr, MD, FAACAP, BCIA-EEG.

In addition to high serotonin levels, autistic children have a characteristically common "u" EEG pattern reflecting impaired brain function, particularly in areas of the brain responsible for social interaction, communication, speech and bonding.

However, Quantitative EEG's conducted by Dr. Starr on autistic children after three weeks on the medication Respen-A showed that the children's brain patterning changed to "normal" patterning. Starr says that behavioral improvement was also "evident". "Speech, interaction and social skills improved markedly in patients using Respen-A, and displays of frustration and anger markedly diminished," Starr said.

The theory behind the use of Respen-A was developed by private researcher Elaine DeLack, Stanwood, WA. Unlike theories that center on negative reaction to vaccinations, DeLack looked at exposure to a commonly used drug used during delivery, and at brain enzymes that affect the brain both at birth, and again as the child enters childhood.

DeLack's hypothesis (which can be viewed in slide show format at www.Neuro-Med.net) connects autism to the use of epidurals during childbirth. Epidurals were introduced into this country in the 1960's. By the mid-80's, 22 percent of women received an epidural during delivery. In the mid-90's, the number grew to 67%. Today, nearly 90% of women receive an epidural during pregnancy.

However, DeLack contends that it may not be the epidural procedure, but the drugs given in conjunction with the procedure, in combination with the drug Pitocin, that has contributed to increasing numbers in autism.

Pitocin crosses the placenta to the infant's system during childbirth. The drug requires adequate production of an enzyme found in the liver (CYP 3A4) in order to rid it from the body. If the infant has a genetic inadequacy of the CYP 3A4 enzyme (found more often to be lacking statistically in boys than girls), the drug's intensity could become elevated in the infant's system, and build with another naturally occurring neurotransmitter that plays a key role in brain development: the hormone Oxytocin.

Oxytocin builds naturally in the brain during the first 7 - 10 days of life, ensuring that nerve patterning develops as it should in the brain. Once Oxytocin levels reach a naturally predetermined level, the development of the brain's nerve system (HNS system) ceases.

DeLack theorizes that the addition of Pitocin into the bloodstream of infants without adequate CYP 3A4 genetic enzymes, causes brain development to "shut off" early, stunting crucial neuro-development.

DeLack hypothesizes that a second enzyme may explain why autism shows up in many children around the age of three. The enzyme MAO-A is essential in regulating serotonin levels in the brain. In the first years of life, MAO-A levels remain high, assisting brain function. The impact of MAO-A may, in fact, cover symptoms of brain impairment in infants and toddlers.

MAO-A levels diminish as the child ages - allowing serotonin levels to rise, impacting the areas of the brain associated with communication, speech, emotion and bonding. Respen-A curbs the level of serotonin in the autistic brain.

"We see promise in all of this," DeLack says. "Further study will determine if simple modification during childbirth could be all that is needed to stem the surging tide of autism," states DeLack. And for those who have autism? "Respen-A could give them a quality of life that they - and their parents - deserve."

Prescriptions for Respen-A require a daily calcium supplement. For further information about Respen-A, go to www.neuro-med.net

REPORTERS ARE WELCOME TO ATTEND SUNDAY'S SEMINAR AT PREECE AND TOFF SALON AT FRED SEGAL, 420 BROADWAY, SANTA MONICA, CALIFORNIA. TO RESERVE SPACE, CALL 877-963-3338.

Dr. Fred S. Starr may be reached at doc@5starrpsych.com

Elaine DeLack may be reached at elaine@edmsllc.com

SOURCE Neuro-Med.net

FOXP2 - Hope we are nearing the answers to speech and language!

Source: http://www.chinadaily.com.cn/world/2009-11/12/content_8953997.htm

WASHINGTON: Chimps, our nearest relatives, don't talk. We do. Now scientists have pinpointed a mutation in a gene that might help explain the difference.

The mutation seems to have helped humans develop speech and language. It's probably not the only gene involved, but researchers found the gene looks and acts differently in chimps and humans, according to a study published online yesterday by the journal Nature.

Lab tests showed that the human version regulated more than 100 other genes differently from the chimp version. This particular gene - called FOXP2 - mutated around the time humans developed the ability to talk.

"It's really playing a major role in chimp-human differences," said the study's author, Daniel Geschwind, a professor of neurology, psychiatry and human genetics at the University of California, Los Angeles. "You mutate this gene in humans and you get a speech and language disorder." This tells you "what may be happening in the brain," he said.

Frances Vargha-Khadem, head of developmental cognitive neuroscience at the University College London, who wasn't part of the research, said the study "is very much in line with what we had always suspected."

Vargha-Khadem has studied people with other inherited mutations in the gene and their speech and language problems. People with a certain mutation have subtle physical differences in the lower part of the jaw, the tongue and roof of the mouth, and she suspects chimps do, too. That physical part is important because "you can't produce the dance unless you have the feet to do the dance," she said.

Eventually, work on this gene and others could potentially lead to genetic treatments for people with certain developmental difficulties, such as autism, Geschwind said.

AP

Moving up - 18 Oct 09

In Math, he is moving up fast. Their present lesson is in rounding up numbers. He knows this but I think, he needs to review it. He is good in Math overall but the moment you inject word problems, he gets a little confused especially if it is wordy. Funny thing but true, the moment I do an intensive teaching on him on a particular lesson, he gets it in a wink. Hence, his autism teacher will tell me that he did pretty well. I just do not know how far the school goes to teach him in order for him to absorb the lesson. A good example is the mode, median and range that was initially taught to him last year. In mid-September 2009, the same lesson came up again so I made sure he understands what to do. Indeed, he was able to demonstrate proficiency. His autism teacher told me later that he did not make a mistake at all.

In Reading/Language Arts, he still needs help here. I just hope the autism teacher will focus more on this. He can read well especially when you do syllabication on long words. However, he really needs more comprehension. I believe he can comprehend but not as fast as we want him to spit it out in words. I do not know but the wonders of autism is the fact that words are flying out there in the air and could not grab it to say it orally. This makes me sometimes appreciate that I can talk and communicate anytime I want to as opposed to individuals like my child who sometimes are not able to put what he wants to say into words. In short, many times, he could not verbalize. I hope we can help him more. He needs it especially now that he is growing up.

Overall, he has really made great leaps from saying less than 50 words (or we were just imagining?....say, 20 words) until he was less than 5 1/2 years old. From 5 1/2 years old and onwards, he demonstrated that he can read, he can solve simple Math word problems, answer some specific questions and do multiplication faster than the mainstream kids. Still, the moment you inject the why and how, he gets lost. He needs help there badly. He is eating on his own using his utensils, he goes to the bathroom, he removes his clothing, he brings his backpack/lunch box, he walks on his own without running or not being aware that a car might hit him, he uses the computer especially the youtube.com website to see different videos/songs/dances that he fancies, he puts his glasses on and returns them back after use, he removes his socks/shoes, he sleeps on time (actually, we never really have problems with this; there are few times he wakes up at dawn), he wakes up properly because he has to go to school, he knows how to remove his dirt on his nose, he knows how to say, "it hurts" when he gets hurt, he know when to stop liking a movie or only have to watch them if he feels like it (before, he used to watch it over and over and over).

Trained to shoot to kill

I know there is a so called trained to shoot to kill but lo and behold, to shoot another individual 5 times amidst a scuffle and you are an officer, there must be something that went wrong. Shooting 5 times means the person with a gun does not know how to aim to his target in motion even though he was trained for this. Indeed, the community or the outside world feels sympathy for the dead victim but what if that is your very own child? Will you accept a trained to shoot to kill reasoning? What if the dead victim is your own child (an elementary student) with a knife and you are a parent and an officer, and since you are trained to shoot, you will kill your child? I am just expressing my opinion about the news of a fully functioning teenager with autism who was shot five times by a school resource police officer. I feel bad because a fully functioning teenager with autism means he had gone through a lot to be in his current state and will just be killed in school just like that and by an officer for that matter. There will never be a recovery for the parents of the boy.

On the other hand, am not saying, I detest what the officer did. Based from the news story, he left the hospital on the same day he was admitted, perhaps just couple or less hours. It only means, his wounds are shallow and these could just be knife scratches. And these are not life-threatening to counter his five times shot against his opponent (or there might be more shots released in the air in trying to aim a good shot). The officer must have a taser, why did he not use the taser? As for the knife, who owns the knife? How big is it that his so called stabbed wounds only warrant a couple or less hours of stay in the hospital? Do we believe the officer who claimed the student has a knife? Who inflicted the wounds, the officer or the student with autism? There are many lingering questions here as the outcome was not positive. The officer may not mean to kill the student with autism but he did not use his judgment here. He killed an individual and that is a fact.

I know the police organization in general. I had been there.

Teenager with Autism Killed by a Police

Trevor Varinecz, 16-Year-Old Autistic Student, Killed by Officer After Stabbing Him With a Knife

Written by JJ on Oct-16-09 5:27pm

Trevor Varinecz, 16, was shot and killed Friday after he attacked a high school police officer with a knife at Carolina Forest High School in Myrtle Beach, South Carolina. The 11th-grader had asked to speak with the officer, who he stabbed after the 2 had entered an office, Teal Britton, spokeswoman for Horry County Schools, said.

Despite the tragic events, students were not sent home and were not told what happened. After the confrontation, both Trevor Varinecz and the officer were taken to a hospital. Varinecz was pronounced dead at 9:34 AM and the officer was released in good condition at 12:30 PM.

Trevor Varinecz was an autistic student at the school. According to witness accounts recounted at wafb.com, teachers heard shouting in the office and when they entered, they saw Varinecz stabbing the officer with a large knife. He was shot moments later. Though the officer's identity has not yet been confirmed, the school's only school resource officer is Marcus Rhodes.

This isn't the first time the high school has been the site of a violent attack. In June, 2006, 18-year-old Natalia Holmes was stabbed to death in the school's parking lot. Her ex-boyfriend, Edwin Cornelius Brown, was convicted of the murder and is currently serving life in prison.
(Source: http://www.zimbio.com/Trevor+Varinecz/articles/qYdiLsPGDpo/Trevor+Varinecz+16+Year+Old+Autistic+Student)

---------------
After reading the story about this fully functioning teenager with autism, I doubt it if the police officer's wounds are enough to let him pull the trigger five times. The officer was able to leave the hospital on the same day that he was brought together with the teenager with autism who later died. The police officer's wounds are too shallow to warrant him to shoot the teenager five times. It is very suspicious. The boy may have brought the knife to school, which is bad/violation but to be shot five times vs the shallow wounds inflicted on the officer brings the case to a homicide. You can shoot the boy's legs and/or arms but not in areas where the victim eventually succumbed to death. There should be more facts or even videos to see that the police officer's actions are not self-defense.

Second Incident of Hand Marks - 5 Oct 09

The school said that they never touched AX if there is a behavior problem. Indeed, they did and the hand marks on his upper left arm is a proof that can not be denied. This second incident occurred on 5 Oct 09 and it was really frustrating since we just had a brief meeting with the principal regarding this. He was held so tightly again that finger/hand marks were left on his upper left arm. The ESE specialist and the autism teacher said it could be the big pole in the playground that caused this. It is real bullshit to have this kind of reasoning, right?

Interim IEP Meeting - 1 October 2009

An interim IEP meeting was conducted on 1 October 2009; 2:10PM EST. It was attended by the 2nd grade and 3rd grade Language Arts teachers, speech therapist, autism teacher and the ESE specialist. The purpose of the meeting was to incorporate the Language Arts as part AX's mainstreaming. According to the IEP, he has 75% removed from the autism cluster or that he only spends 25% in the autism cluster and the 75% of the time, he is in the mainstream. However, I really do not know if that is being followed but I sure do hope it is. I hope that behavior does not impede him from being with the regular class or students. I mentioned this because today (2 October 2009), a mainstreaming behavior log was initiated by the school without our knowledge. AX had been with the autism cluster since he was in pre-K and did not gain anything until we pushed for more school work. These are the sad events of his life. Imagine, a student with autism goes to school without learning something?

I do not know that much that transpired in the IEP meeting because I had to assist AX in the bathroom. It turned out he was having tummy problems so he could not be still.

I will post the addendum of the interim IEP later in the day or tomorrow.

Hand Marks on the Right Arm - 30 Sept 2009

September 2009 ended with a bang. There were so many things to attend to. It was really hard to bear especially when we escalated our complaint to the school district's area superintendent's office and the ESE. On 30 September 2009, AX had hand/finger marks on his upper right arm/shoulder and lower right arm. It was pretty evident that he was having a struggle. He got physically hurt so physical marks were left on the right arm. I have to state it again, he was physically hurt so physical marks were left on the right arm. I just hope it was not done with intention. I noticed the marks right after he sat on his car seat and asked him to change his shirt as we had an ortho appointment at@ 3:00PM. I flipped. I asked him to come with me and we approached his autism teacher and the ESE specialist. The teacher kept saying he did not know any of it. The ESE specialist acted like it was no big deal. She did not show any concern at all. We left the school grounds and it seemed like we were not attended to.

The next day, 1 October 2009, we went to the principal's office at 1:30PM. The ESE specialist and the principal were present. As usual, wrongdoing was denied. The pictures on the camera were set aside like it was no big deal.

Today, I was told by the autism teacher that they are doing the behavior log for AX. This was written by the person who assists AX in Language Arts mainstreaming and Math mainstreaming. There was no mentioned of 30 Sept 2009 incident.

Meeting with the Administration (15 Sept 09)

On 10 Sept 2009, we requested for a meeting with the principal regarding our concern that AX is the only 3rd grader in the whole school who is isolated. My personal opinion on this matter is the fact that the administration (the principal, in particular) did this on a whim. She wants to get back to us especially to me who makes her on guard all the time. We arrived early to the school grounds on 15 Sept 09. We were asked to come inside for the meeting at 7:35AM, five minutes late from the scheduled time. Many people entered the room instead of the principal only and us. She introduced her assistant principal, autism coach, ESE specialist and the autism teacher. The moment she introduced the autism coach, I told the woman that it is good to meet her FINALLY after 4 weeks of classes. She is the only autism coach who is somehow not doing her job like meeting the parents, assisting the students with autism. I do not know if she knows what she has to do.

have to run,,,//

The school district intervenes (23 Sept 09)

Yesterday, Mr. GG went to the school and observed our son. Most likely, he spoke with the principal and the ESE Specialist before the teleconference began. The ESE Specialist called me up and told me that they would like to have a teleconference regarding our concern that AX is the only 3rd grader in a classroom full of lower grade levels and all of his peers are in one classroom. We told the principal that AX must be with his peers but she was adamant to put AX in the classroom under Mr. H. Hence, we forwarded our concerns to the Equal Education Opportunity department (15 Sept 09) and then we wrote a letter to Ms. SS. Our concern was copy-pasted to the deputy area district director (16 Sept 09). Ms. SS handed over our concern to Mr. GG (18 Sept 09). His recommendations somewhat floored me:
1. Another child who is a peer of AX will be transferred to the class of Mr. H.
2. AX must have his Language Arts 3rd grade not 2nd grade so he can keep up with the FCAT.
3. AX must have extra-curricular activities.

I will continue once I have the time. I have to run.

Roche Eureka Moment on Disorder May Aid Autism Probe

This article's source: http://www.bloomberg.com/apps/news?pid=20601103&sid=a0S62zPmBtN0

Sept. 18 (Bloomberg) -- Researcher Luca Santarelli wasn’t sure what do to with an experimental medicine developed in the labs of his employer, Roche Holding AG, until a 2007 meeting with a concerned father led to a “Eureka moment.”

Mike Tranfaglia, whose son has the rare brain disorder Fragile X syndrome, met Santarelli to present new research linking the disease to a chemical in the brain that may also play a role in Alzheimer’s and autism. Santarelli, 41, says this made him see how the experimental drug could be used to treat Fragile X, the most common inherited form of retardation. Roche may test the pill in patients this year.

“In one hour the whole relevant literature is presented to you and you come away with a gut feeling that this could work out,” Santarelli, Roche’s head of central nervous system exploratory development, said in an interview. “For a scientist, a Eureka moment is why we live and do this job. You have very few, but that was one of them.”

Armed with newly uncovered links between biology and brain disorders, Roche and Novartis AG are racing smaller drugmakers to develop the first medicine to treat Fragile X, a genetic disease thought to affect about 250,000 people. While analysts estimate such a pill may generate as little as $250 million in annual sales, studying the treatment may reveal ways to treat other illnesses of the central nervous system, estimated by London-based Datamonitor Plc to have been worth $96 billion in 2007 in seven major markets.

Proof of Concept

“For us, Fragile X is like a proof of concept,” Santarelli said. “If we can crack this, then we can move into a broader range of neuro-developmental disorders.”

Developing a treatment for the disease may prove to be a challenge. While the early results look promising, most experimental medicines fail to make it through the three phases of clinical testing needed for marketing approval.

The link between the diseases comes from studying glutamate, the most common neurotransmitter, or chemical that allows for communication between neurons in the brain. Perturbations in glutamate signaling are now thought to contribute not only to Fragile X, but also to conditions such as Alzheimer’s, depression, autism and even heartburn.

Since many people with forms of autism that are genetically unrelated to Fragile X seem to have defects in the same cellular pathways, they may respond to the same treatments, according to the Newburyport, Massachusetts-based Fragile X Research Foundation. Tranfaglia, a psychiatrist, founded the organization, known as FRAXA, in 1994 after his son Andrew, now 20, was diagnosed.

No Cure

There’s no cure for Fragile X, which can cause a broad range of symptoms, from fidgeting to impulsive actions, according to the U.S. National Institutes of Health. About 33 percent of males with the disorder have autism or autistic-like behavior, the NIH says. Fragile X is also the most common cause of autism that has been identified so far, according to the National Fragile X Foundation.

Scientists may be on the cusp of developing treatments for Fragile X because of two breakthroughs in neuroscience. One was the discovery in 1991 by a team headed by scientist Stephen Warren at Emory University in Atlanta that the syndrome is linked to the mutation of a specific gene located on the X chromosome. The disease got its name from the abnormal appearance of the end of the X chromosome’s long arm.

Faulty Gene

The fault in the gene inhibits the production of a protein called FMRP, which is responsible for keeping levels of other neuronal proteins in check. The excess of some proteins that results from the FMRP deficit impairs brain development and causes Fragile X.

The other breakthrough was work done by neuroscientists led by Mark Bear, then at Brown University in Providence, Rhode Island, who in 2000 showed that blocking the production of glutamate can help counterbalance the effects of reduced FMRP levels. This was the finding that Tranfaglia gave Santarelli.

“Only a few years back people would have thought it was impossible to treat diseases like schizophrenia and autism with drugs that are not just targeting symptoms but that address the molecular basis of the disease,” Santarelli said. “But we think we can do that now.”

Roche’s experimental medicine inhibits glutamate production and prevents the excessive output of other proteins by binding to a specific receptor called mGluR5.

Brake and Throttle

“FMRP is the brake and glutamate is the throttle” in the production of many proteins in nerve cells, Santarelli said. “If you take away the brake, you have only the throttle, so you want to take that away too.” By keeping the level of proteins in check, the treatment may prevent damage and reverse symptoms such as learning problems, anxiety and autistic behaviors caused by Fragile X.

Basel, Switzerland-based Roche has said study results obtained so far with its compound have been “encouraging.” The drugmaker probably will test the experimental medicine in autism if the results of animal studies are positive, Santarelli said. Roche declined to give details about the trials.

Drugs currently used in autistic patients are focused on treating symptoms such as anxiety and depression, aggression, seizures and hyperactivity. Medicines used include Pfizer Inc.’s antidepressant Zoloft, the generic antipsychotic medicine haloperidol and Novartis AG’s attention deficit disorder pill Ritalin. Behavioral therapy is the standard approach to treatment, according to the patient organization Autism Speaks.

‘Secret Hope’

This medicine “could be the first to reverse mental retardation,” Randi Hagerman, a professor at the University of California at Davis who’s working with Roche on the clinical trials, said in an interview. “What everyone is hoping is that the causes of autism may converge on a final common pathway that may be sensitive to this drug. The secret hope is that we might find it can be used much more broadly than for Fragile X.”

The first Fragile X medicine that targets the mGluR5 receptor may reach the market by 2011 or 2012, said Hagerman, who has also worked with Cortex Pharmaceuticals Inc., Neuropharm Group Plc and Seaside Therapeutics. Children would likely get medication soon after diagnosis, typically at two or three years old, Tranfaglia said.

“Most Fragile X kids are born as essentially normal babies,” Tranfaglia said. “There’s really nothing wrong with them at first, but they simply don’t develop at the normal rate. The hope is that down the line you would start the medication shortly after diagnosis, and this would prevent much of the abnormal development of the brain that leads to the symptoms.”

Limited Market

The market may be worth from $250 million to $1 billion a year, depending on pricing and what exactly the drug is approved for, said Robin Davison, an analyst at Edison Investment Research in London. Symptoms of Fragile X tend to be much more pronounced in men than in women because males only have one X chromosome. If one of a woman’s X chromosomes has a genetic mutation, the other, unaffected one can compensate for it and females may not need treatment.

Neuropharm is testing a compound called fenobam, which also targets mGluR5. A study in the second of the three stages of testing generally required for approval found last year that four of six males and two of six females responded to the treatment. There were no significant side effects.

Novartis is in the second of three stages of clinical testing with its compound, spokesman Jeff Lockwood said in an e- mailed statement. The company declined to give additional details about the trials.

Trials Beginning

Seaside, co-founded by Bear, expects to begin clinical trials with its mGluR5 compound this year and already has another kind of compound that targets glutamate in the second of three phases of testing.

Swiss biotechnology company Addex Pharmaceuticals Ltd. is also working on compounds that target mGluR5, though it has no plans to test them in Fragile X.

“Our two lead products could certainly be developed by Addex or a potential partner of Addex for Fragile X, but we’ve chosen to prioritize other indications like heartburn, migraine and Parkinson’s where the market potential is big and clinical testing is faster and cheaper,” spokesman Chris Maggos said in a telephone interview.

Medicines being developed for Fragile X are likely to benefit from so-called orphan drug status, Hagerman said. Neuropharm’s fenobam has already been granted the designation, which is given to treatments aimed at serious diseases affecting fewer than 200,000 people in the U.S. or fewer than five of 10,000 people in Europe. It gives companies a seven-year period of market exclusivity in the U.S. The medicines also get a speedier review.

Unmet Medical Need

“Fragile X is certainly an unmet medical need,” Bear, now professor of neuroscience at the Massachusetts Institute of Technology in Cambridge, Massachusetts, said in an interview. “It’s a severe psychiatric disorder with a lot of features like epilepsy, obsessive compulsive behavior, autistic behavior, cognitive impairment. Everyone will be looking very closely to see which aspects of the disease are going to respond to these drugs.”

To contact the reporter on this story: Dermot Doherty in Geneva atddoherty9@bloomberg.net

Last Updated: September 18, 2009 04:48 EDT

HWs on 3 Sept 09

The two images are his HWs for 3 Sept 09. The previous post shows what he did at school on the same day. See the discrepancy.

SY 2009 - 2010 Update - 3 Sept 09

Images on the left are what he did in school (senses). This is roughly a pre-K and K level of instruction.

3 Sept 2009 - FACTS - ESE Specialist and Autism teacher maintained that they cannot give a grade level instruction to him because his current instruction is only on the 1st grade. They cannot do anything about it since they have to follow the law. He cannot be put under Mr. BLANK's class because he is way beyond that (according to ESE Specialist).

2 Sept 2009 - FACTS - AX finished the so called "test" to determine the level of instruction. This test is First Grade reading comprehension. He got a 50% passing. He will be given a First Grade level of instruction but he will be exposed to Third Grade lesson because of FCAT 3rd grade.

1 Sept 2009 - FACTS - According to the Autism teacher, he is still testing AX in the First Grade level. He said that he passed the pre-Primer and Primer tests.

24 - 28 Aug 2009 - FACTS - He was given a week-long "test" to determine the level of instruction.

Why there should be a video camera inside the autism clusters' classrooms

A student with autism was caught being slapped by a support teacher. This happened in Pittsburgh, PA. You can read the rest of the story in the first link below. The second link shows the video of the incident that was taken by teacher's aide. This is the major reason why there should be a video camera inside the autism clusters' classrooms. Students with autism will be protected from whatever possible incidences of maltreatment by the adults in the classroom. The video camera will be their mouthpiece since many cannot communicate well or simply cannot talk.

http://www.thepittsburghchannel.com/allegheny/20531472/detail.html

http://www.youtube.com/watch?v=1GyW-jsuCbU

Tape and a pair of scissors to repair the teeth 26 Nov 08

It was a normal day and the three kids were watching Blue's Clues. This is their latest craze. AX was doing a lot of jumping. I was at the other room. I heard a loud sound and I thought, he must have hurt his head or knee or any joints in his body. He came down rushing and I was calling him. Finally, he came up and there was blood in his mouth. He bruised his lower lip. He brought a pair of scissors and a tape. I did not understand what he meant when he gave me the pair of scissors and the tape. It turned out, his two upper incisors are wobbly. He was crying the whole time and could not be consoled. I took the dental floss and removed his teeth one by one. It was a little hard because he was crying and felt discomfort the whole time. I was able to remove them and when he realized that they are not there anymore when I showed him his mouth, he began crying hard. He was asking me to put them back. He even took back the 2 milk teeth from me and tried putting them but they fell off. He was so innocent and it seemed like he will stay that way.

Writing on the desk 15 Dec 08

We were told in school that AX is writing on the desk. I do not know why he starts writing on the desk. He never did that before. He used to write on the walls, floors, books, notebooks but never on the desk. Last week, he ran downstairs, went to the table and got a pencil and just draw an envelope on the paper that is on the table. It gave me a clue that somehow he is doing what Steve is doing in Blues Clues. Indeed, he is drawing the things that he sees in Blues Clues. I just do not know why he is drawing on the desk. I told the school that most likely he copied that from his classmates as his brother and sister never write on the desk/table.

From my diary where I usually write (around early 2007)

Many times, a child's innocence is better than live with another experienced adult. It teaches you to enjoy simple things in life and appreciate them. A child's joy and laughter is nothing compared to an adult's fictitious laugh and endless chatters. As adults, we are programmed to do mundane things the society and for that matter, the ruling government and bureaucracy expect us to do. We have children and we also felt the need that they also follow our tedious life in this society. Having been married for almost seven years and with two children in tow, there are many life-altering lessons learned along the way. It is not an easy task to be parents. The things and events that your parents have undergone are coming to you like recycled plastics. I did not even dream in my wildest imagination that some of the things I am experiencing right now are the very things I have seen from the dilemmas my parents faced when we were growing up. It is just so funny. What comes around, goes around like they always say.

AX is a child 5 years of age and hardly talking at all. The so called professionals diagnosed him as having autism. He has been living under the umbrella for 2 years as a child with autism because he is not in par with kids of his age when it comes to communication. He is categorized as having the speech communication of a normal boy less than 2 years of age. Indeed, AL, his younger brother, has far more words he utters than that of AX. He is basically autistic because he can not talk like normal kids of his age. The reasons are unknown that not even the professionals and well-researched studies can explain such condition at present. In other aspects of life, he is developing normally and as far as I can tell, he may be advanced in other fields compared to children of his age. What are the stumbling blocks then? For one, he is having behavioral problems in school. The adults assigned to him and that includes his Kindergarten teacher, seem like, they think of him as a nuisance. He does not follow readily the things or commands the teacher tells him. He disobeys or does not follow as the teacher and his speech therapist told us. He can not do this and that. "I am giving him a lower 2, actually, it should be 3 because he just do not understand things." Impossible. Insanely impossible. What I believe is this: The teacher is not doing the things she should be doing. She may not even spend enough time or the allotted time for AX to learn things. AX does not follow, she does not do anything. She thinks very low of AX like he is a dumb person. He does not do this and that therefore, he can not do this and that. Another thing that Marco related to me yesterday, they do not have a respect on what the boy can do. I believe that is true. I have seen two instances when I dropped him off to school in the mornings, one staff member just pointed with her forefinger to AX to put his bag and lunch bag in the corner right after the door. The other time, it was the autistic coach, who just did almost the same thing as the staff member - cautioning AX to drop his bag and lunch bag in the corner. No language communication ensued. It is like the boy is a prisoner and that he just knows sign language, which he does not, unfortunately. They should have told him the commands by opening their mouths. They did not.

The horizons last week and this week became all the more gloomy for AX because this time around, I insisted that they are hurting AX physically when he does not comply. His home note states: "Does not want to come in, 3 staff members to bring him back in." Heck, the times when I see more than 2 staff members escorting someone is when a prisoner is in the maximum security facility or when a guy going to court is an extreme menace like a "terrorist." AX is an average height for his age and 43 pounds and being escorted by 3 staff member who are adults? Surely, that is a sign that some of these people are getting tax payers' money and doing nothing. Many times, they are heavy adults as many Americans are full-sized figures. Last week was very important and I should have noted it but let it go believing the incident will not happen anew. He came home one day last week with heavy finger marks on his upper left arm. These faded away like 4 days or so. It is hard to see this boy being hurt by people who do not believe in him nor have shown love to him. He can not talk and it is hard to get real facts from him. Surely, these people from school will tell their side of the story but not the real thing. They need to defend themselves and their positions.

I am just so exhausted with all the things happening to AX. His speech problem is becoming a darn impediment in school as well as his stubbornness. I do not deny that the boy is stubborn. He can be stubborn at times but the moment an adult knows how to impose his authority and at the same time loving, he readily complies albeit reluctantly at times.

The boy is just 5 years of age and all these things are occurring? I do not know but it seems the road ahead is bumpy and I need to fasten my seatbelt tight.

School is coming again

Last Tuesday, we went to the orientation meeting of AL's school. The private school of AL wants that the students will have social skills mastered than having intelligence. In short, they want the kids to be able to say, "I want to go to the bathroom" first than having a mastery of the ABCs, 123s.

AL is AX' younger brother. He is an incoming pre-K student (2009-2010). It will be our first time to have a kid who will be in the mainstream. AX was immediately put into pre-K autism cluster and up until now he is still in the autism cluster (incoming 3rd grade 2009-2010) but he is in Math mainstream and Language mainstream classes. His Reading will still be in the autism cluster. As aforementioned in previous posts, he is very good in Math. He is having some issues in reading comprehension. He is reading but his comprehension needs attention.

Tomorrow will be AX' school orientation and we will all go there as a family. We have no one to leave the kids with so wherever we go, they all go with us or with me for that matter.

Similar circumstances happened to us before...

I will try to relate in a comprehensive way on what happened to AX, to us, the parents and the schools. I was inspired by this other blogger who has a son with autism. Her experience is so similar to us. I just made a sigh of relief thinking before we are or I am the only nutcase having this problem with the school. Actually, it is a long and continuous true to life story of how a student with autism was treated in school, how the schools' and the school district's perceptions are different from neuro-typical students compared to the students with autism and how incompetent/negligent are quite large number of teachers, autistic coaches, ESE specialists, assistant principals and principals in the three schools we have gone into.

http://mommydearest1514.blogspot.com/search/label/School?updated-max=2008-05-29T15%3A10%3A00-04%3A00&max-results=20

"Jack" fell down and broke his arm...

On 23 July, AX fell on the toy school bus that was on the floor. He was trying to get the Gameboy of his younger brother and most likely, he lost his balance and fell on the floor. Unfortunately, he landed on the toy school bus. I found him there crying and cringing in pain. He was pointing that his left arm was bothering him. He had a little fever at around 5:00 AM the next day. I did not hesitate to have him medically attended because he has a bulge between the lower part of his upper arm and the elbow. He could not stretch out his left arm at all. He was in pain. The whole day of Friday was spent at the doctor's office. It was mostly a long time of waiting to be attended in the walk-in emergency clinic and then the orthopedic's office.

The orthopedist decided to have his left arm be put in a cast. At first, the medical attendant was feeling like AX was being hardheaded. Eventually, I told her that he has autism. Next thing I know, she related that her girlfriend's son has autism as well and they participated in the Walk for Autism.

We are slated to have his cast be removed on 17 Aug and that means, we have to wait again.

Some sad news of late:

An Italian child with cerebral palsy and his grandmother died in hyperbaric chamber explosion. Please see link below:

http://www.theautismnews.com/2009/08/13/family-files-wrongful-death-lawsuit-after-hyperbaric-chamber-explosion/comment-page-1/#comment-1552

Eight Years of Life

It would have been a good thing if one day AX will surprise us and he will just be talking endlessly. We are still wishing for that day to come when communication will be part of his system. AX can talk and read at present. He needs more time in comprehension. In Math, he is flying so we are not that concerned. However, he will need the comprehension in Math in the years to come. He is capable of multiplication from 0 - 10. He knows that when you give him 6 x 8, he has to do 8 six times or 6 eight times. A week ago, I taught him multiplication using the fingers/hand for higher numbers (6 to 9). He is still learning and I think, he will find it much easier later on.

AX turned eight years old last 8 August and he spent some minutes doing three pages of multiplication from a Grade 3 exercise book that we bought at Sam's Club. We went out later in the day just like all our other weekends. We usually eat out during Saturday and Sunday, do a little of cheap shopping, take them to some kids' hang-outs that we could find and whatever we will be able to do before we arrive back to the house.

His eight years of life has been pretty healthy and real progress has been there. He did not talk or utter words except 10 - 25 words (I think, 25 is an exaggeration but just consider it as a safety net) with most of the times almost nothing. He lived in the dark world since he turned 18 months old. It was really odd and so sad to see him unable to talk like normal kids of his age. The light kept peering in the closed door and finally, in April 2007, he started to talk and this became very evident in September 2007. He can tell us that this is an airplane, a computer, a television, a table, an egg, an ice cream, a pizza and among other things. Soon, he is able to read stories. He still has some pronunciation mishaps but since he has some good phonics, he can go on reading 3-syllable words he has not encountered yet. Despite his pace in reading, his comprehension is not yet in the leaping stage. We are still trying to teach him and hopefully, he can reach the stage where the students of his age are or even surpassed them? Well, one has to be optimistic all the time no matter what. Every failure leads closer to the next step of success. As in our case and in our son's case in particular, I felt that no one believe in him, he was taken like a kid in school who has a duct tape on his mouth. No one thought that he could read or even understand or even be very good in Math.

Summer school

Summer school is about to end on the 29th of July 2009. The school district is somehow trying to minimize the impact of the recession. The district allowed only four schooldays for this summer that is Monday - Thursday.

It took me to some heights again to press the summer school where he is attending that he must be given grade-level academic work. Imagine, the first 3 days of school, the summer school teacher showed me three pages of preschool work? I flipped. I sent an e-mail to the principal of his current school to demand that he must be given grade-level activities. Yes, I flipped in a sense that I was determined that he must not be given stupid lessons when a teacher wants to buy time inside the classroom. I used the word, "demand" because I was firm that AX's thinks far beyond than he can speak. On the first Thursday of the summer school, he was finally given something relevant. It was minimal but am thankful that what I did made them come to their senses. However, I am still cautious. Nonetheless, let it be known that the teacher is kind and is trying her best. However, I hope that she believes more that students with autism can go mainstream. I just felt so bad that she thinks low of what the students with autism can reach or do in life. She thinks, that these disabled students are forever chained to their current situation. It tells me that HOPE is a very elusive word and should not be for children with autism. Life is choice and choosing hope to live everyday is wonderful.

On a similar note, I saw some videos of adults with "severe mental disabilities" and they are picking up trash. They are being interviewed by a lady. They answered her questions properly albeit some in a slow pace response. This is my commentary and I hope she will publish it.

I feel bad that their job is to pick up trash just because they have "severe mental disabilities." They responded to your questions properly and that does not essentially qualify them as having a "severe" condition. I hope you can post more videos showing these individuals what they can really do. It somehow tells me that they went to school when they were young and since they have severe mental disabilities, all they could end up to is picking up trash in their adult years? Life is harsh.

4 June 09

Today is an early release day for AX. I really thought that Friday will be the last day of school. I taught him superlatives today (-er, est). I asked him to draw me a big heart, bigger heart and biggest heart. He also did one page of the Starfall book about compound words. My plan this summer before he goes back to school this 29th of June is for him to be familiar in making short or simple sentences. I hope he will feel comfortable with "words" soon in order to help him for the rest of his life.

DTaP and Swelling - 1 June 2009

Our second son AL was given his last dosage of DTaP on the second Saturday of May 2009. The following day, Sunday, his right upper leg was swollen. We called the doctor and we were told to give him Benadryl with Allergy and Tylenol (acetaminophen). He had no fever nor he felt pain according to him. We squeezed his affected leg and asked him if it is painful. He said that it is not even though the swollen part was hot. We took him to the doctor on Monday and his right upper leg was really so big and it went up to the back of leg. I was hoping that it will not reach his private part and it somehow did not.  On Tuesday, the swelling dissipated a bit. We took him back to the doctor Wednesday and somehow the bulge is much less.  The swelling became manageable by next Saturday. However, he had a fever the following Sunday. I am thinking he got sick from getting wet in the rain. It has been raining for almost two weeks now. 

It was frightening to have this experience given the fact that his older brother has mild autism.  According to the doctor, it was a local reaction and this can occur in the fifth DTaP. I do not know if he might still get the other vaccines required before he turns 6 years of age. We have delayed his second dose of MMR. We did the same thing with our youngest daughter who is 26 months now. She does not have MMR yet in her system. 

Anybody who have thoughts to share, will appreciate.

TIME's Adult Autism - 31 May 09

There is an article about adult autism in Time magazine recently (around 2 - 3 weeks ago). It was a bit pitiful to see what this man ended up into his adult life. I can only express pity for as the author (Karl Taro Greenfeld) said there are less studies or focus into adult autism. I cannot make judgment to the family. Each child with autism and his/her family are different from another family with similar situation even though they pursue the same goal to put or make the child with autism a functioning person in the society. I have watched the two 60 Minutes episodes about this family before and after they took him to the institution. Noah Greenfeld carried on the "autism" throughout his life. He was subjected to medications and this makes me feel so villified.  The man also endured the USIs. And this reminds me of what happens to AX whenever he is at school. Sad to say, he still cannot relate what happens to him nor if someone does something to him. This is the reason why I am pushing him to talk or communicate. He needs to defend himself. On a side note, I have also read and watched a 7-year old boy who committed suicide mainly due to the medications given to him. Imagine, you will subject a 7-year old kid to medications suited for adults just because you want them to stop certain behaviors? I just cannot remember though if this kid who died also has autism. He was raped constantly as well when he was under the care of his biological mother.

I do not know but I am striving hard for AX to be as normal as possible since he needs that once he grows up. He needs to be independent hence to be as normal as possible is very important. Anything can happen to us and who will take care of him? I do not have an ounce of trust in the state to take care of him. I have a constant worry everyday and this will not change until AX can be a meaningful part of the society. 

In the TIME magazine's article, the author relates that his younger brother has low-functioning autism and he is not getting enough of the state's services that should be provided to him. This is also true for kids with high-functioning autism. We (as parents) struggle with the school system to provide him a good education, to let him mainstream and keep focusing on the positive side. There is a dearth of people providing services who can truly understand what is autism and how it should be handled. AX still has not gotten into Medwaiver program so he can go to speech therapy that the state will pay for. AX has been in the waiting list for more than 2 years now. 

It would be relevant to read another article of Karl Taro Greenfeld. This is the link: http://www.nytimes.com/2009/05/24/opinion/24greenfeld.html?_r=1 

Update on AX - 30 May 2009

I need to make a post before the month ends. Well, I was told by the autism coach that he is doing well in the Language mainstreaming. He said that he may have ups and downs but that is normal. Hence, we asked the school in the 4th week of May to have him continue the Language mainstreaming in Second Grade.  He will proceed to Third Grade and we will just hope for the best that he will pass the FCAT Third Grade or we have no option but the school system in Florida insists that any student who does not pass the FCAT Third Grade will be retained. Where in the world did they have a study that a child will perform well when he is retained? Nevertheless, we keep hoping, trying and helping him to acquire the skills needed for the examination.

We watched UP and it was a good movie but they "killed" the mother in the beginning just like they did in Finding Nemo. Disney/Pixar is so cruel.

Update on AX - 21 May 09

It has been months now since I put something here. We are occupied on a daily basis when our daughter was hospitalized for 9 days for diabetes. She was 22 months old that time. She is doing fine as of the moment but blood sugar level has been a day to day struggle. We need to maintain the level and sometimes it is really freaking hard especially when she does not want to eat or will just let the food rot inside her mouth.

Anyway, I was able to fight for or insist that AX be put in mainstream class for Language (meaning, nouns, verbs, adjectives, prepositions, etc...). It was hard because we asked the principal to let AX do trial period for Language. The ESE Specialist said that he was doing pretty bad. She judged him on the basis of 1 trial period (30 minutes or less) when AX should have gone 3X (1 per week - that is all we were allowed; yet they only put him there 1x) to Language mainstreaming since it was started in the 2nd week of April 2009. We bombarded her for that because I cannot seem to fathom how come the school and the people who are supposed to know about autism have low regards for disabled students they are handling. We did a classroom observation on 13 May 2009 in the Language mainstreaming. Axell did very, very good. He even went to the board and put the correct answer. The autism coach and the classroom teacher were somehow petrified when Axell went to the board. I saw in it on their faces. Tthe lesson was about the articles A and AN (an apple, a book). Axell put the correct answer in the sentence. Nonetheless, am thankful that they are still trying. I just hope they can maintain the trust to every students with autism - They can do it. They just have some processing issues at times but they can do it.

AX is still having a hard time in comprehension but am still very positive he/we will get there soon. He needs to get there not because we want to. He needs it since he is growing up and he has to express himself, learn more of the world and be able to maintain independence. I am still teaching him to make a sentence and am hoping this summer he will be able to do it more and more. He had done some sentences before. I asked him, "What is this?" He said and put, "It is an apple."

I will continue later.

Back to school - 20 Jan 09

AX did not want to wake up this morning. I bet, he is regaining back his energy as he did not sleep Sunday night (18 Jan 09). He was up until 1:30AM EST and I saw him he was still wide awake. I have to raise my voice to tell him that he has to go to bed and sleep. After 15 minutes or so, he was sleeping soundly. However, he must have been restless because he was awake before 7AM Monday (19 Jan 09). He went straight to his N64 console and asked for his game, "I want game."

Updates on AX - 18 January 2009

It has been a while since I posted here. I simply lost track of it. I keep updates in my e-mail address and I have videos. He has hundreds of videos in www.youtube.com.

He has normal cognitive skills according to his psychological test given by the school in the 3rd to 4th quarter of 2008. This is a good news. I was a bit elated but somehow still felt bad because the psychologist chose him to remain in the autism cluster. He is mainstreamed in Math. He does well in that subject. He has a good teacher. Her name is Ms. Contento. Even in problem solving, he is now understanding that there are certain terms he needs to know if he will use addition or subtraction. He is doing well in multiplication although he has not memorized the multiplication table yet. He knows the basic in performing multiplication say, 3 x 4, he has to make/add 3 fours. I thought I could teach him division this long vacation from school in December 2008 but we taught him more of reading comprehension. He needs that badly.

There is a 4-day vacation again from school and I keep wondering why schools in the United States opt for too many vacation days.