NAC Tolerance?

Over the years, some medications have helped to control the irritability and agitation that V has struggled with since she was 3 years old. So many times we have gained temporary relief and glimpsed hope, only to have it fade away within 2 or 3 months. Usually the decline in effectiveness has resulted in adjusted dosages to higher levels to regain benefits. But, there are upper limits to safe dosages with all meds, and a point at which side effects outweigh benefits. We always seem to reach that point with each med, and the hope slips away.
I suspect that V has become tolerant to the effects of NAC, although it is not a medication. I have not increased the daily dose above the 900 mg tablets, but I can no longer see a difference in irritability levels compared with what they were before we began to give her the NAC.
It was always a subjective evaluation of effectiveness. I didn't keep detailed behavior data beyond the usual behavior reports that support staff turn in. It is possible that I saw the improvement that I wanted to see in the beginning. I will use the remaining NAC tablets that I have, but I probably will not order it again.
I am disappointed. 

A Day Off of the NAC

I waited until I only had 2 doses of NAC left before ordering more. So, when the NAC shipment didn't arrive before I ran out, we had a day without any NAC. What a difference! I had wondered how much the NAC was helping before we ran out, but now I know. V was irritable from 10 am until 3pm, either acting out or laying in her bed resting or sleeping. She never had a community outing because it would have been unsafe to take her out until she was calm, and 1 mg of lorazepam (ativan) did not help her. She did better in the later afternoon and evening. We still don't have the new shipment of NAC and I am hoping it arrives today. Now I can see that she is much more relaxed with it than without, and it has reduced the need for sedatives to take the edge off of her irritability, which I don't want to use any more often than necessary for safety.

Here is a new article about NAC and explains in terms that are fairly easy to understand, why NAC may help autism symptoms.

N-acetylcysteine may hold potential for treating autism

LIKE THIS ARTICLE5

E.

By E. Hector Corsi

Read more: http://www.digitaljournal.com/article/330225#ixzz22s2eOhp3

N-acetylcysteine (NAC) is an inexpensive antioxidant supplement that was recently examined for its ability to improve some aspects of autism. Significant improvements on some behaviors were observed with the use of NAC.

Dr. Hardan of the Department of Psychiatry and Behavioral Sciences at Stanford University in Stanford, California performed a randomized, placebo-controlled study of NAC in children with autism.

The children were divided into two groups, and one group received NAC, and the other received a placebo for 12 weeks. Patients who received NAC were administered 900 mg per day for four weeks, then 900 mg twice a day for four weeks, and then 900 mg three times per day for four weeks.

NAC treated patients had significant improvements in irritability compared to those on placebo. A decrease in repetitive/stereotyped behaviors was also observed, but reached statistical significance only on some subscales. Gastrointestinal side effects were observed, but NAC was generally well tolerated. The results were published in the journal Biological Psychiatry.

Autism may have several causes, and some of them include increased levels of the neurotransmitter glutamate, which is excitatory, and high oxidative stress. Researchers of the above study highlight one of the causes of the disease is disequilibrium between antioxidants and oxidants. This causes an increase in reactive oxygen species (ROS), and this causes damage to several cells and organs. Synthesis of glutathione, the body’s main antioxidant, is also perturbed.

NAC may work because it increases glutathione and beneficially modulates the release of glutamate. Whey protein can also raise glutathione levels, and other researchers have also previously found that NAC can raise glutathione.

A systematic review of research findings was carried out by Dr. Frustaci at the Unit of Clinical and Molecular Epidemiology at the Scientific Institute of Recovery and Treatment San Raffaele Pisana, Rome , which specializes in neurologic rehabilitation. Her key results recently published in the journal Free Radical Biology and Medicine shows that patients with autism have low blood levels of glutathione.

Other researchers also recently reported in the journal Current Medicinal Chemistry that glutathione levels are reduced in autism patients, and antioxidant enzymes are decreased. They stated that glutathione can protect against the inflammation and oxidative stress in autism.

Thus, by increasing glutathione levels, NAC might improve some aspects of autism. Larger randomized studies are required to evaluate the effects of NAC on the disease.

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Read more: http://www.digitaljournal.com/article/330225#ixzz22s2Dz5ZD

CM-AT for Core Symptoms of Autism

This medication works in the intestines of children to help them better digest proteins so that they don't need to avoid gluten or other dietary items that exacerbate autism symptoms because of immune system responses.

Read below;

Autism

Autism represents a large patient population with unmet medical needs.  According to the latest study by the Centers for Disease Control and Prevention (CDC), autism affects approximately one in 110 children.  Some 70% of children with autism could potentially benefit from Curemark’s enzyme replacement therapy, one of first therapies to address the underlying physiology of autism, rather than just treat its symptoms.

Curemark has identified a series of biomarkers that determine which children with autism and Pervasive Developmental Disorder (PDD) may have digestive deficiencies underlying or as a major component of their disease.  Research by Dr. Joan Fallon, Curemark’s CEO and founder, showed enzyme deficiencies in children with autism, resulting in an inability to digest protein.  The inability to digest protein affects the production of amino acids, the building blocks of chemicals essential for brain function.  Curemark is progressing with Phase III clinical trials for its CM-AT autism treatment, which has been granted fast track status by the FDA. 

PRESS RELEASE

Aug. 6, 2012, 10:13 a.m. EDT

Curemark To Enroll Children 9-12 Years Of Age Into Medical Trial Of CM-AT For Children With Autism

NEW YORK, Aug. 6, 2012 /PRNewswire via COMTEX/ -- Dr. Joan Fallon, founder and CEO of Curemark, a Rye, New York-based drug research and development company focused on the treatment of Autism and neurological diseases, today announced that the company has received clearance from the Food and Drug Administration (FDA) to commence direct enrollment of children 9-12 years of age into its open-label extension study of CM-AT for children with Autism. A limited cohort of children and sites will be involved in this direct enrollment.

In December 2011, Curemark reported that its Phase III double-blind randomized placebo-controlled multicenter clinical trial of CM-AT for Autism met its primary and secondary endpoints. The trial compared CM-AT to placebo in children with Autism 3-8 years of age. Top line results demonstrate a statistically significant effect of CM-AT over placebo on both the core and non-core symptoms of Autism.

Dr. Fallon stated, "We are thrilled to be allowed to directly enroll these older children into our ongoing open-label extension study." She continued, "Enrolling children 9-12 years-of-age with Autism who may potentially benefit from this therapeutic treatment in our trial is extremely important."

The FDA has placed CM-AT into the Fast Track program which facilitates the development and expedites the review of new drugs that are intended to treat serious or life-threatening conditions and that demonstrate the potential to address unmet medical needs.

About CUREMARK LLC

Curemark is a drug research and development company focused on the treatment of neurological and other diseases, especially those with dysautonomic components, by addressing certain key gastrointestinal/pancreatic secretory deficiencies. The company announced in December, 2011, that its Phase III double blind randomized placebo controlled multicenter clinical trial of CM-AT for autism met its primary and secondary endpoints. To learn more about our innovative science, visit www.curemark.com .

About Autism

Autism Spectrum Disorder (ASD) is a range of complex neurodevelopment disorders characterized by social impairments, communication difficulties, and restricted, repetitive, and stereotyped patterns of behavior. It is estimated that autism affects 1 in 88 children in the United States. It is reported to occur in all racial, ethnic and socioeconomic groups, with a 3 to 4 times greater occurrence in boys than girls. There is presently no drug approved to treat the core symptoms of autism. Recent studies have estimated that the lifetime cost to care for an individual with an ASD is $3.2 million.

Safe Harbor Statement

This news release contains forward-looking statements that involve risks and uncertainties that could cause our actual results and experiences to differ materially from anticipated results and expectations expressed in such forward-looking statement. These forward-looking statements include, without limitation, statements regarding the mechanism of action of the Curemark products CM-AT, CM-4612 and CM-182 their potential advantages, their potential for use in treating diseases or disorders, as well as the timing, progress and anticipated results of the clinical development and regulatory processes concerning the Curemark products CM-AT, CM-4612 and CM-182. These statements are based on our current beliefs and expectations as to such future outcomes, and are subject to known and unknown risks and uncertainties that may cause actual future experience and results to differ materially from the statements made. Factors that might cause such a material difference include, among others, risks that the results of clinical trials will not support our claims or beliefs concerning the effectiveness of the Curemark products CM-AT, CM-4612 and CM-182, our ability to finance our development of CM-AT, CM-4612 and CM-182 regulatory risks, and our reliance on third party researchers and other collaborators. We assume no obligation to update these statements, except as required by law.

SOURCE Curemark LLC

Copyright (C) 2012 PR Newswire. All rights reserved 

After Five Weeks of NAC

First, I want to say that I discussed the use of the NAC with V's primary care physician at the beginning of our use and he was fine with it. I also reported our use of the NAC to V's psychiatrist, who prescribes medications. I think that it is important when adding anything new to make sure that it is discussed with medical professionals to make sure that there will not be any interactions with medications.

We started using one 900mg PharmaNAC tablet each morning on June 26 and it is now Aug 5. Around the same time that we started the NAC, we also eliminated some activities that were not so popular with V and so they contributed to irritable behavior. It is reasonable to conclude that those changes would reduce irritable behavior by lowering  V's stress level as much as the NAC might.

What I have observed is that V is not waking up in an irritable and agitated state as she did often before.

She is working cooperatively and enthusiastically with her tutor, her speech therapist and her occupational therapist, regardless of the time of the day. She has never worked well with a tutor before, but she has had a new one for the past 3 weeks, and it has gone very well since the first session. She worked well with the tutor, flying through all of her activities, in spite of no rest after all day out in the heat, and in spite of having her grandfather in her room painting her walls while she worked, furniture all pushed into the center of the room.

She has had two of the best therapeutic horseback riding sessions that she has had in years during the past month. The trainer reported that she stayed on the horse most of the time allowed, asked to dismount appropriately and gave the horse kisses and pats.

This week, she remained relatively calm and flexible during a disruption to her routine while we repainted her playroom/bedroom area.

There are still periods of agitation, and I did not expect them to be totally eliminated. I hoped to reduce the frequency and severity of irritable behaviors based on the the study of NAC use in individuals with an autism spectrum disorder.

I am pleased enough with the lower level of irritability that I ordered more PharmaNAC online yesterday and plan to continue to give it, and perhaps try adding a second daily dose to see if we get further improvement. 

Assembling a Team

Yesterday a new tutor had her first session with V. I was hopeful. For the first time I did not feel that I had to  hire anyone who would take the job and I did not feel that I had to rush the decision to hire. I had many qualified applicants and I had learned from past experience with other tutors and therapists what qualities made a tutor successful or unsuccessful with V. I slowed the hiring process down this time. After reviewing the online resumes, I had a face to face meeting and had a prepared list of questions that had not been addressed in the resume. After that, I still did not make a job offer, but instead I asked the applicant to return to meet V and observe a speech therapy session to see how a successful therapist works with V, to see her capabilities and to ask questions. Only after that second meeting did I ask the applicant if she felt that the job was a good match, knowing that she now understood what to expect from V and what my expectations of her would be.

 I had learned that it is important for anyone who comes to our home to work with V to be well prepared with a variety of activities. Sometimes V will reject an activity that does not interest her, other times she will complete an activity more quickly than anticipated. It can cause an episode of agitation if a therapist or tutor continues to offer a rejected activity because they have nothing else to offer or because they want to force the issue. Knowing this from prior experience allowed me to share this knowledge with the new tutor.

I had learned that if V becomes tense, it is important to offer her a break and to give her some physical
space until she is ready to resume work. It is important to read her body language and verbal cues and respond to them to avoid triggering an episode of agitation. Again, I was able to communicate this to the new tutor.

V likes to work with someone who is cheerful, relaxed, low-key, confident and who goes with the flow. She does not like someone who talks too much, too fast or nervously. She does not like someone who is inflexible, unresponsive to her communication and body language, or someone who is unprepared. Knowing the her personality and behavioral preferences makes it easier for me to look for someone with the right personality who can connect well with her. Credentials don't matter if the specialist doesn't relate well with V, or if they just get on her nerves.

All of these things seemed to make a difference. For the first time in 4 years of self directed services, V worked a full hour, cooperatively and with no behavior incidents, in her very first session with the new tutor. This has already become the norm for her time with her speech therapist and her occupational therapist. She has learned to give an hour of her attention and energy to a specialist almost every weekday afternoon, and I have learned better hiring skills. This time I used Craigslist and I used the the local teacher's chat room on the county's school system website. I had to have a local teacher put my advertisement there for me, but it got a lot of responses.

I am thrilled with the team of specialists who are working with V now. With her cooperation, they are all able to help her make progress. 

Enhancing Treatments for Neurological Conditions

Here is a report of a new type of treatment that improves the effectiveness of training and rehabilitation in people with brain injuries or disorders.

Research Shows Nerve Stimulation Can Help Reorganize Brain

Jul. 19, 2012

Dr. Michael Kilgard helped lead a team that paired vagus nerve stimulation with physical movement to improve brain function.

UT Dallas researchers recently demonstrated how nerve stimulation paired with specific experiences, such as movements or sounds, can reorganize the brain. This technology could lead to new treatments for stroke, tinnitus, autism and other disorders.

In a related paper, UT Dallas neuroscientists showed that they could alter the speed at which the brain works in laboratory animals by pairing stimulation of the vagus nerve with fast or slow sounds.

A team led by Dr. Robert Rennaker and Dr. Michael Kilgard looked at whether repeatedly pairing vagus nerve stimulation with a specific movement would change neural activity within the laboratory rats’ primary motor cortex. To test the hypothesis, they paired the vagus nerve stimulation with movements of the forelimb in two groups of rats. The results were published in a recent issue ofCerebral Cortex.

Dr. Michael Kilgard

After five days of stimulation and movement pairing, the researchers examined the brain activity in response to the stimulation. The rats who received the training along with the stimulation displayed large changes in the organization of the brain’s movement control system. The animals receiving identical motor training without stimulation pairing did not exhibit any brain changes, or plasticity.

People who suffer strokes or brain trauma often undergo rehabilitation that includes repeated movement of the affected limb in an effort to regain motor skills. It is believed that repeated use of the affected limb causes reorganization of the brain essential to recovery. The recent study suggests that pairing vagus nerve stimulation with standard therapy may result in more rapid and extensive reorganization of the brain, offering the potential for speeding and improving recovery following stroke, said Rennaker, associate professor in The University of Texas at Dallas’ School of Behavioral and Brain Sciences

Dr. Robert Rennaker

“Our goal is to use the brain’s natural neuromodulatory systems to enhance the effectiveness of standard therapies,” Rennaker said. “Our studies in sensory and motor cortex suggest that the technique has the potential to enhance treatments for neurological conditions ranging from chronic pain to motor disorders. Future studies will investigate its effectiveness in treating cognitive impairments.”

Since vagus nerve stimulation has an excellent safety record in human patients with epilepsy, the technique provides a new method to treat brain conditions in which the timing of brain responses is abnormal, including dyslexia and schizophrenia.

In another paper in the journal Experimental Neurology, Kilgard led a team that paired vagus nerve stimulation with audio tones of varying speeds to alter the rate of activity within the rats’ brains. The team reported that this technique induced neural plasticity within the auditory cortex, which controls hearing.

“Our goal is to use the brain’s natural neuromodulatory systems to enhance the effectiveness of standard therapies,” Dr. Rennaker said.

The UT Dallas researchers are working with a device developed by MicroTransponder, a biotechnology firm affiliated with the University. MicroTransponder currently is testing a vagus nerve stimulation therapy on human patients in Europe in hopes of reducing or eliminating the symptoms of tinnitus, the debilitating disorder often described as “ringing in the ears.”

“Understanding how brain networks self-organize themselves is vitally important to developing new ways to rehabilitate patients diagnosed with autism, dyslexia, stroke, schizophrenia and Alzheimer’s disease,” said Kilgard, a professor of neuroscience.

Treatment of neurological disease is currently limited to pharmacological, surgical or behavioral interventions. But this recent research indicates it may be possible to effectively manipulate the plasticity of the human brain for a variety of purposes. Patients then could benefit from brain activity intentionally directed toward rebuilding lost skills.

If subsequent studies confirm the UT Dallas findings, human patients may have access to more efficient therapies that are minimally invasive and avoid long-term use of drugs.

---

Media Contact: Emily Martinez, UT Dallas, (214) 905-3049, emily.martinez@utdallas.edu
or the Office of Media Relations, UT Dallas, (972) 883-2155, newscenter@utdallas.edu

Trying the NAC

So many new treatments that I read about, that show promise, require prescriptions and are still years away from FDA approval. NAC is not a medication. It is easy to acquire without a prescription, from the same source that was used in the original study. While the study was quite small, I found the results to be impressive. This is something I can try, with the risk of only some digestive upset, to help the irritability that plagues Valerie. Here is the link to the original article about NAC as treatment for irritability in people with autism; http://www.ucsfcme.com/2012/slides/MOC12001/OHANLONarticle.pdf
I purchased the same PharmaNAC effervescent tablets online from BioAdvantex Pharma, Inc.  The website is www.pharma-nac.com  .  It was $18.50 us dollars per box, plus shipping for 20 tablets. The shipment arrived within a couple of days. I started Valerie on one tablet in the morning a week ago. The first day I tried dissolving it in water, since the box says it is wild berry flavored. She took one sip and pushed it away. I added a flavored drink to the water and she drank it all without incident. The first day she had a little upset stomach once in the  morning, but has not had any problems with that since. I would say that, at 900 mg, once a day, she has been calmer and less irritable than normally, so far. After only one week, I am encouraged, but it is still too early to tell if the good week is because of the NAC or merely a coincidence.
In the study, they used one tablet a day for 4 weeks, then increased to 2 tablets a day for the following 4 weeks, and finally 3 tablets a day for the 3rd four week period. The increased doses did bring lower incidents of irritable behavior, but not as dramatic an improvement as the first two weeks did. Given the cost, and the fact that it will not be covered by insurance since it is not a medication, I am not sure I would commit to more than one tablet a day for the small improvement it might offer. I will have to wait and see. After one week, I see no downside to this treatment other than the cost.
The warnings on the package say that it has not been tested on adolescents under the age of 18, and warn against dosing in combination with dairy products. It also says that bedtime dosages will not interfere with sleep.

• 
  

New Drug Treatments for Core Symptoms of ASD's On the Way

From www.bioresearchonline.com the following announcement was made regarding the research and development of new drugs that address underlying causes of core autism symptoms:

Roche And Seaside Therapeutics Announce Landmark Alliance To Advance Novel Treatments For Fragile X Syndrome And Autism Spectrum Disorders

June 19, 2012

Roche and Seaside Therapeutics announced recently that they have entered into a collaboration to develop disease modifying treatments for fragile X syndrome (FXS) and autism spectrum disorders (ASD), both neurodevelopmental disorders for which there are currently no effective pharmacological treatments that address core symptoms. The alliance aims to speed up research and development in this field and  lead a fundamental change in the treatment paradigm for FXS and ASD by developing therapeutics that target the molecular basis and, in turn, core symptoms of these neurodevelopmental disorders.

Under the terms of the agreement, Seaside will license patents covering the use of mGluR5 antagonists for the treatment of neurodevelopmental disorders exclusively to Roche. Roche will subsequently lead the development and commercialization of these compounds for the treatment of FXS and ASD. Its mGluR5 drug candidate RG7090, is currently enrolling patients in a Phase 2 clinical trial in FXS.

Seaside will develop its GABA-B agonist program and retains exclusive rights to issued and pending patents covering the use of GABA-B agonists for the treatment of FXS and ASD. Seaside’s lead GABA-B candidate STX209 is currently enrolling patients in Phase 3 trials in FXS and recently completed enrollment in a Phase 2b trial in ASD. Roche may exercise options to commercialize STX209 upon completion of certain clinical development phases in FXS and ASD, but Seaside will continue to lead the clinical development of these programs. Additional terms of the transaction will not be disclosed.

“Roche is committed to finding new treatments in areas of high unmet medical need such as autism spectrum disorders,” comments Luca Santarelli, Global Head of Roche Neuroscience. “Recent discoveries in genetics have shed light on the biological underpinnings of these conditions thus providing a basis for mechanistic drug discovery. To establish a leadership position in this field we sought to build a solid partnership with Seaside Therapeutics, a company that has successfully pioneered the research and development in this novel and uncharted area.”

“This collaboration is a real win for patients and caregivers—aligning leading minds and organizations committed to rapidly advancing transformational drugs to treat autism and fragile X syndrome,” said Randy Carpenter, MD, President and Chief Executive Officer of Seaside Therapeutics. “Importantly, this collaboration also provides Seaside with additional resources to complete late-stage clinical development of STX209, which we believe has the potential to change the treatment paradigm for fragile X and autism and thereby help patients and their families achieve an improved quality of life.”

ASD refers to a group of enigmatic cognitive disorders, including autism and Asperger’s syndrome, which impair social interaction and communication, whereas FXS is a rare genetic disease, whose symptoms closely resemble ASD, and whose underlying mechanism may be similar. With no approved pharmacological therapies that address core symptoms for either condition, the unmet medical need remains high. The compounds that Roche and Seaside Therapeutics are developing hold the promise to become the best-in-class treatments by targeting aberrant glutamate signaling and GABA, thereby restoring synaptic transmission in ASD and FXS patients.

About mGluR5
The most commonly inherited form of autism involves the gene encoding fragile X mental retardation protein (FMRP). Loss of FMRP function disrupts signaling between neurons, leading to widespread brain abnormalities and mental retardation. Normally, FMRP is balanced by mGluR5, an important receptor in the brain that is involved in learning and memory. Without normal FMRP, this balance is lost, leaving mGluR5 function unopposed. Early results from a clinical trial suggest that children with fragile X syndrome can be helped by drugs that inhibit mGluR5 activity. (Source: Sfari)

About Seaside Therapeutics
Seaside Therapeutics is working to correct or improve the course of autism, fragile X syndrome and other neurodevelopmental disorders by translating breakthrough discoveries in neurobiology into therapeutics that will improve the lives of patients and their families. While there are treatments that alleviate some symptoms of neurodevelopmental disorders, there are currently none that address the underlying causes.

Seaside Therapeutics is using a scientific approach in attempt to address this unmet need and changing the landscape of drug development by focusing on single-gene disorders with a high prevalence of autism, such as fragile X syndrome. For more information, visit www.seasidetherapeutics.com

About Seaside Therapeutics’ STX209:
STX209 is an oral selective gamma-amino butyric acid type B (GABA-B) receptor agonist. Pathologies observed in certain neurodevelopmental disorders, including autism spectrum disorders and fragile X syndrome are believed to be caused by excessive activation of glutamate receptors and abnormally high ratios of excitatory to inhibitory neurotransmission in the brain. GABA-B receptors play an important role in modulating the release of glutamate and optimizing the ratio of excitatory to inhibitory neurotransmission. STX209 has demonstrated efficacy in preclinical models, suggesting that it may improve function in individuals with autism spectrum disorders and fragile X syndrome. With STX209, Seaside has successfully completed the largest, randomized, blinded, placebo-controlled trial (Phase 2) in patients with fragile X syndrome and an open-label Phase 2a exploratory trial in patients with autism spectrum disorders. Two Phase 3 studies, one in adolescents and adults (ages 12 to 50) and one in children (ages 5 to 11) with fragile X syndrome, are currently enrolling participants. A Phase 2b study in children, adolescents and adults (ages 5 to 21) with autism spectrum disorders recently completed enrollment.

About Roche’s involvement in autism spectrum disorders
Roche has a strong commitment in the area of neurodevelopmental disorders, in particular in ASD with currently three compounds in clinical development. A Phase 2 trial is currently ongoing in adult and adolescent fragile X patients through a wide age range to investigate the safety and efficacy of Roche mGluR5 antagonist RG7090 (read more about the study under http://clinicaltrial.gov/). In parallel Roche is exploring biomarkers to identify patients most likely to benefit from this treatment.

A recent study1 demonstrated that chronic treatment with Roche’s mGluR5 antagonist corrected fragile X symptoms in a mouse model, even if started after the disease onset. These new data suggest beneficial effects in a wide range of symptoms and a disease-modifying potential for mGluR5 antagonists in fragile X syndrome.

Roche is also committed to establishing connections with leading academic institutions and biotechnology companies. Recently, an international consortium of scientists, led by Roche and King’s College London, has launched the largest single grant for autism research in the world and the largest for the study of any mental health disorder in Europe. Read more about European Autism Interventions – A Multicentre Study for Developing New Medications (EU-AIMS).

Roche also signed an agreement with the Harvard Stem Cell Institute, Harvard Medical School, Children’s Hospital Boston and Massachusetts General Hospital to develop cell models for autism spectrum disorders.

Key players in the field of ASD research across the industry, including Seaside Therapeutics, academia and patient advocacy groups recently gathered at the fourth edition of Roche - Nature Medicine Translational Neuroscience Symposium, to share the latest advances in the field of “Autism Spectrum Disorders: From Biological Understanding to Therapeutic Strategies”.

About Roche
Headquartered in Basel, Switzerland, Roche is a leader in research-focused healthcare with combined strengths in pharmaceuticals and diagnostics. Roche is the world’s largest biotech company with truly differentiated medicines in oncology, virology, inflammation, metabolism and CNS. Roche is also the world leader in in-vitro diagnostics, tissue-based cancer diagnostics and a pioneer in diabetes management. Roche’s personalized healthcare strategy aims at providing medicines and diagnostic tools that enable tangible improvements in the health, quality of life and survival of patients. In 2011, Roche had over 80’000 employees worldwide and invested over 8 billion Swiss francs in R&D. The Group posted sales of 42.5 billion Swiss francs. Genentech, United States, is a wholly owned member of the Roche Group. Roche has a majority stake in Chugai Pharmaceutical, Japan. For more information, visit www.roche.com.

SOURCE: Roche

Free Bioresearch Online 

Long Term Effects of Teaching Social Skills to Autistic Teens

From Medical News Today:

Teaching Social Skills To Autistic Teens Proves Effective Over Long Term

Current ratings for:
'Teaching Social Skills To Autistic Teens Proves Effective Over Long Term'

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Teenagers with autism spectrum disorder are in a bind. The disorder is characterized by impairments in communication and social interaction, but it's a continuum, so some teens diagnosed with ASD are considered high functioning and healthy enough to be "mainstreamed" in school. 

But without the proper social skills, even mainstreamed teens don't quite fit into the general social milieu of middle school or high school. As a result, they suffer from all the slings and arrows of that world. 

Since 2006, however, the UCLA PEERS (Program for the Education and Enrichment of Relational Skills) clinic has assisted high-functioning teens with ASD by literally teaching them the strategies they need to fit in better with their peers. And while previous research demonstrated that the program was effective, it wasn't known whether the new skills "stuck" with these teens after they completed the PEERS classes. 

In the current edition of the Journal of Autism and Developmental Disorders, Elizabeth Laugeson, director of the PEERS Clinic and a UCLA assistant clinical professor of psychiatry, and colleagues report that in a long-term follow-up study, they found that the skills taught and learned stayed with the kids - and in some cases even improved. 

ASD includes a range of pervasive developmental disorders characterized by problems with communication and socialization; it's estimated that one in 88 children born in the United States has some form of ASD. 

The researchers' findings show that the PEERS intervention resulted in significant improvements in social skills, as reported by parents and teachers using standardized measurements of social functioning. Reports from parents also suggested that teens' ASD symptoms related to social responsiveness decreased significantly by the end of the class and even at the long-term, 14-week follow-up. In addition, the teens' knowledge of social skills improved, as did the frequency of their get-togethers with their peers. 

Teacher ratings of the teens' social functioning in class also showed significant improvements at the long-term follow-up - an important finding, since the teachers did not know the teens had participated in the PEERS class. 

Both parents and teachers also reported there were fewer problem behaviors with the teens 14 weeks after the program was over. 

"Teens not only showed better social competence and greater understanding of social skills, but they were having more frequent get-togethers with their peers because they had developed the critical skills needed to make and keep friends," said Laugeson, who also directs The Help Group-UCLA Autism Research Alliance. 

Studies on the effectiveness of social-skills training for individuals with ASD indicate that intervention during childhood and adolescence is critical. However, very few evidence-based interventions focus on improving the social competence of teens with ASD, which makes the present findings unique and important, Laugeson said. 

"This is exciting news," she said. "It shows that teens with autism can learn social skills and that the tools stick even after the program is over, improving their quality of life and helping them to develop meaningful relationships and to feel more comfortable within their social world. The fact that these social skills are sticking is critical, because we need them to thrive throughout our lives." 

Laugeson attributes the power of the program to the parents. The PEERS classes, which focus on teaching the rules of social etiquette to teens, require parents to participate as well. In separate meetings, the parents are also provided with information on how to be social coaches for their teens in the real world. Many of the social skills taught are those most of us know intuitively: how to have a conversation (by trading information), showing good sportsmanship ("Hey, nice shot!"), and how to avoid bullying or deflect taunts ("Yeah, whatever"). 

The classes meet for 90 minutes once a week for 14 weeks and include brief didactic instruction, role-playing demonstrations, behavioral rehearsal exercises for teens to practice newly learned skills, in-class coaching with performance feedback, and weekly "homework" assignments, supervised by parents, such as inviting a friend over for a get-together at home. 

"The class is very structured, and the skills are broken down into small rules and steps of social etiquette that give the teens specific actions they can take in response to a social situation," Laugeson said. "This method of instruction is very appealing to teens with autism because they tend to think concretely and literally and often learn by rote." 

What makes this program even more unique, Laugeson said, is that it teaches the skills used by socially accepted teens - not what adults think teens should do. For example, if teens with ASD are teased, "most adults will tell teens to ignore the person, walk away or tell an adult," she said. "But when you ask teens if this works, they say no. So we want to teach our teens to do what kids that are socially accepted are naturally doing. In this case, that would be to give a short comeback that shows what the person said didn't bother them - like saying 'whatever' or 'yeah, and?' They learn not to take the bait." 

An Easy Way to Contribute to Autism Research

CDSweep Makes it Easy to Clean Out Your Unwanted CDs & Support Autism Research!

June 5, 2012 by autismsciencefoundation

You know you have piles of dusty CDs and DVDs somewhere in your house. You’ve long since converted everything to digital, so now what do you do with all those jewel cases? Donate them, of course!

CDSweep (www.cdsweep.com) launches today as an easy way to do a clean sweep of all your unwanted CDs and DVDs and help fund critical autism research. Just box up all of your old discs, ship them free with prepaid FedEx labels, and for each disc received a donation will be made to ASF.

Go to www.CDSweep.com, enter the amount of discs you’d like to send, and you’ll be emailed a prepaid FedEx label to ship them all for free. Your donation is tax-deductible and provides funding directly to scientists conducting innovative autism research and supports the needs of people with autism and their families. Each disk will be valued at up to 50 cents each! You can even request that your CDs be digitized and sent back to you as MP3s for free.

A HUGE THANK YOU goes to the volunteer committee who put this project together. Thank you team!

Jason Roth, Founder

Ken Waagner, Smartley-Dunn Solutions, Ltd.

Seth Mnookin, author, “The Panic Virus”

Debbi Dougherty-Roth, ad:tech

Sarah Wefald, graphic designer

Kris Schrey, iPodmeister

Better Diagnosis Through DNA Testing

DNA Scans Can Spot Cause Of Brain Issue In 25% Of Kids

By Robert Langreth - Jun 13, 2012 2:00 PM ET

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Scanning the genes of children with inherited brain disorders pinpoints the precise cause more than a quarter of the time, often changing the diagnosis, according to one of the largest studies of child DNA sequencing.

The study published today in Science Translational Medicine examined the genes in 118 people with child-onset brain development disorders where obvious causes had been excluded. Researchers found new disease-causing mutations in 22 patients. In 10 more people, the scans found rare genetic diseases that had been misdiagnosed because symptoms were atypical. In two cases, the new diagnosis led to changes in treatment.

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The study “is a remarkable demonstration of the power of sequencing in the clinic -- precise, molecular, root cause diagnosis,” said Eric Topol, a professor of genomics at the Scripps Research Institute in San Diego in an e-mail. “Virtually all diseases” will be more precisely defined through gene sequencing in the not-too-distant future, he wrote.

The research shows how often DNA scans can improve diagnosis in kids with brain disorders such as autism, severe epilepsy, or intellectual disability, said Joseph Gleeson, a child neurologist and study author. Brain development disorders afflict as much as 4 percent of children and are often genetic, yet the precise causes can be elusive, he said. Sequencing lets researchers examine all genes for abnormalities, instead of testing for one genetic disorder at a time as done now.

Biggest Surprise

The biggest surprise is that some children with genetic brain disorders have diseases that have been known for a long time, said Gleeson, of the University of California, San Diego. The kids weren’t diagnosed correctly because “frequently their symptoms don’t match those in the textbook.”

As a consequence, doctors may not have thought of ordering gene tests for those rare diseases, Gleeson said.

“This is taking the whole medical field by surprise,” Gleeson said. “It used to be that the gray-haired professor was the gold standard, and if patient didn’t respond to treatment then patient was an anomaly.”

Gene sequencing eliminates the problem of misleading or vague symptoms by testing all genes, Gleeson said. “It will change the way we practice medicine,” he said.

The study follows research published in the June issue of the Journal of Medical Genetics, where scientists at Duke University used sequencing to diagnose six of 12 kids with genetic disease of unknown origin. In five of the cases, the children had had mutations in genes known to cause disease, said David Goldstein, the study leader and director of the Center for Human Genome Variation at Duke’s School of Medicine in Durham, North Carolina. One child had been diagnosed with autism, yet turned out to actually have Pitt-Hopkins Syndrome.

Absolutely Transformational

For diagnosing pediatric genetic disease, sequencing “is an absolutely transformational technology,” Goldstein said in a telephone interview.

“It is a much larger, more important application than people were anticipating,” Goldstein said. Today’s study confirms that sequencing can revise the diagnosis in many cases, he said.

Gene sequencing produces huge volumes of data that can be hard to interpret, UCSD’s Gleeson said. In the Science Translational Medicine study released today, Gleeson and colleagues simplified the analysis by studying sick children of married cousins in countries in the Middle East, North Africa, and Central Asia, where such relationships are common. The families had multiple relatives afflicted by genetic disease, making it easier to find inherited mutations, he said.

Exome Sequencing

The California researchers worked with scientists at Broad Institute in Cambridge,Massachusetts, to scan the genes in the 118 patients. This technology is called exome sequencing and looks at the 1 percent of the DNA that contains genes that create proteins. The researchers used equipment from San Diego- based Illumina Inc. (ILMN) and elsewhere to perform the sequencing.

Translating the sequencing technology into everyday medical practice will be a challenge, Gleeson said, as doctors are “sorely prepared” for the data onslaught. “We don’t have computational algorithms that can manage the analysis and we don’t have doctors that can interpret the data,” he said.

Duke’s Goldstein said the technology can be applied rapidly. ‘There is nothing that prohibits this from being done on scale,’’ he said.

The technology may save money because the raw cost of sequencing the 1 to 2 percent of the genome that contains genes now cost less than $1,000, not including cost of interpreting the data, Goldstein said.

For some patients “it is clearly less than has been spent on gene-by-gene tests” that cost several thousand dollars per gene, Goldstein said.

To contact the reporters on this story: Robert Langreth in New York atrlangreth@bloomberg.net;

To contact the editor responsible for this story: Reg Gale at rgale5@bloomberg.net