Study reveals that siblings with Autism have different DNA mutations

In the ever expanding quest for knowledge about the causes of autism, these findings strike a blow on one level and may provide relief on another. There has been great hope that studying the genetic mutations in siblings with autism will help us to learn more about the disorder.  Finding that many siblings with autism have different DNA mutations eliminates the possibly of discovering connections or patterns that could help us better pinpoint the causal factors. But, it may allow parents who have a child with autism to feel more comfortable about having a second child.

'Lightning Striking Twice': Autism Genes Randomly Mutated, Study Finds

Possible link between owning a pet and improved social skills

Great article about the possible link between pets and social skills.  The study is hardly conclusive but it brings up a good point. Throughout my career, I have introduced my dog to many of my clients and have experienced positive outcomes in almost all cases. The children with autism tend to gravitate towards her and enjoy cuddling with her. Additionally, in verbal children, it opens up an avenue of communication whereby they tell me about their pet and ask questions about mine.  
Can Pets Boost Social Skills for Kids With Autism?

Study finds slight evidence that family pets boost social skills in children with the disorder

WebMD News from HealthDay

By Tara Haelle

HealthDay Reporter

MONDAY, Jan. 5, 2015 (HealthDay News) -- Owning a pet may play a role in social skills development for some children with autism, a new study suggests.

The findings are among the first to investigate possible links between pets and social skills in kids with an autism spectrum disorder -- a group of developmental disorders that affect a child's ability to communicate and socialize.


"Research in the area of pets for children with autism is very new and limited. But it may be that the animals helped to act as a type of communication bridge, giving children with autism something to talk about with others," said study author Gretchen Carlisle, a researcher at the University of Missouri's College of Veterinary Medicine and Thompson Center for Autism & Neurodevelopmental Disorders. "We know this happens with adults and typically developing children."


She said the study showed a difference in social skills that was significantly greater for children with autism living with any pet.
But, the associations are weak, according to autism expert Dr. Glen Elliott, chief psychiatrist and medical director of Children's Health Council in Palo Alto, Calif.


"One absolutely cannot assume that dog ownership is going to improve an autistic child's social skills, certainly not from this study," he said.
It's also important to note that while this study found a difference in social skills in children with autism who had pets at home, the study wasn't designed to prove whether or not pet ownership was the actual cause of those differences.


A large body of research, described in the study's background, has found dog owners share close bonds with their pets. Past research also shows that pets can provide typically developing children with emotional support.


Pets have also been shown to help facilitate social interaction. And, pets have been linked to greater empathy and social confidence in typically developing children. Past research in children with autism has focused only on service dogs, therapy dogs, equine-assisted therapy and dolphins, Carlisle said.


Carlisle wanted to see if having a family pet might make a difference in children with autism. To do so, she conducted a telephone survey with 70 parents of children diagnosed with any autism spectrum disorder. The parents answered questions about their child's attachment to their dog and their child's social skills, such as communication, responsibility, assertiveness, empathy, engagement and self-control.


Carlisle also interviewed the children about their attachment to their pets. The children were between the ages of 8 and 18. Each child had an IQ of at least 70, according to the study.
The study found that 57 households owned any pets at all. Among those families, 47 owned dogs and 36 had cats. Other pets included fish, farm animals, rodents, rabbits, reptiles, a bird and a spider.


The study results showed no significant differences in overall or individual social skills between children who owned dogs and those who didn't. But, owning a dog for longer periods of time was weakly linked to stronger social skills and fewer problem behaviors after accounting for a child's age, the researcher found.


The study could not show whether having a dog influenced children's social skills or whether more socially capable children were more likely to own a dog.


Compared to the 13 children without pets, those who owned any pet -- whether a dog or not -- showed slightly more assertiveness, such as willingness to approach others or respond to others. However, the study only included children whose parents said their children would answer questions on the telephone. No other differences in social skills or problem behaviors existed between the pet-owning and non-pet-owning children, according to the study.


The findings were published in the Journal of Autism and Developmental Disorders.
"Although the author makes a case for possible advantages of having a pet, specifically a dog, for higher functioning children with autism spectrum disorders, parents should look carefully at these results and their own circumstances," Elliott said.


He noted there were no statistically significant findings shown in the study data. The study also didn't consider whether pet ownership could have negative effects, according to Elliott.
"The effects are not especially robust and could just as easily be a result of more socially competent children with autism spectrum disorders being attracted to dogs as a relatively safe, low-demand but high-yield form of social contact," Elliot noted.


Pets are less complex and demanding than people, Elliott added. Some children with autism may be able to better exercise social skills with the right kind of pet, but the evidence does not yet show that this behavior extends to interactions with people.
Both Elliott and Carlisle said it's essential for parents to consider their ability to care for any pet before getting one.


"Thinking about the time demands of the pet, the child's sensory issues and family lifestyle when choosing a pet are important to increasing the likelihood for the successful integration of that new pet into the family," Carlisle said. "For example, a child sensitive to loud noises may respond better to a quiet pet."


But Elliott said parents should not mistakenly believe that the potentially positive addition of a pet to a household will be the answer to a child's social difficulties.
"The idea that animals -- dogs, horses, dolphins, to name a few -- can uniquely 'get through' to children with autism is not new," Elliott said. "It certainly seems to be a source of pleasure for some children with autism -- and for many without autism also -- but it is not a cure for an underlying disorder."


SOURCES: Gretchen Carlisle, Ph.D., M.Ed., R.N., postdoctoral fellow, College of Veterinary Medicine, Thompson Center for Autism & Neurodevelopmental Disorders, University of Missouri-Columbia; Glen Elliott, Ph.D., M.D., chief psychiatrist and medical director, Children's Health Council, Palo Alto, Calif.; Oct. 12, 2014,Journal of Autism and Developmental Disorders, online
Copyright © 2013-2015 HealthDay. All rights reserved.

Research on a treatment to restore typical social behavior

Mice again...they apparently function as a good model of a brain with ASD.  This study has found that a neuropeptide, called oxytocin, can restore social behavior in mice.  It has a long way to go before getting to humans but I can just imagine the benefits something like this could have on the ASD community. So many of our kids struggle with social behavior deficits over many other issues and it can be the single most limiting factor for them in terms of having a job or joining in community events

Treatment restores sociability in autism mouse model

Date: January 22, 2015

Source: University of California, Los Angeles (UCLA), Health Science

Summary:

Researchers have treated mice that mimic human autism with a neuropeptide called oxytocin, and have found that it restores normal social behavior. In addition, the findings suggest that giving oxytocin as early as possible in the animal's life leads to more lasting effects in adults and 

adolescents.

Among the problems people with Autism spectrum disorders (ASD) struggle with are difficulties

 with social behavior and communication. That can translate to an inability to make friends, engage in routine conversations, or pick up on the social cues that are second nature to most people. Similarly, in a mouse model of ASD, the animals, like humans, show little interest in interacting or socializing with other mice.

One drug, risperidone, works in both humans and mice with ASD to treat other symptoms of the disorder -- including repetitive behaviors--but no medication has been found to help socialization.

Now researchers at UCLA have treated ASD mice with a neuropeptide--molecules used by neurons to communicate with each other--called oxytocin, and have found that it restores normal social behavior. In addition, the findings suggest that giving oxytocin as early as possible in the animal's life leads to more lasting effects in adults and adolescents. This suggests there may be critical times for treatment that are better than others.

The study appears in the January 21 online edition of the journal Science Translational Medicine.

Mouse models of neuropsychiatric diseases provide a platform for understanding the mechanisms behind disorders and development of new therapies, noted Daniel Geschwind, a UCLA professor of psychiatry, neurology and human genetics, and senior author of the study. In 2011, Geschwind and his colleagues developed a mouse model for ASD by knocking out a gene called CNTNAP2 (contactin-associated protein-like 2), which scientists believe plays an important role in the brain circuits responsible for language and speech. Previous research has linked common CNTNAP2 variants to heightened autism risk in the general population, while rare variants can lead to an inherited form of autism called cortical dysplasia-focal epilepsy syndrome (CDFE).

It's known that the oxytocin is involved in regulating various aspects of social behavior. Among its other roles, oxytocin neurons in the brain's hypothalamus interact with several other brain regions, including the amygdala, hippocampus, and frontal cortex, where they influence such behaviors as fear, memory, and social behavior.

"The oxytocin system is a key mediator of social behavior in mammals, including humans, for maternal behavior, mother-infant bonding, and social memory," said Geschwind, who holds UCLA's Gordon and Virginia MacDonald Distinguished Chair in Human Genetics and is the director of the Center for Autism Research and Treatment at the Semel Institute for Neuroscience and Human Behavior at UCLA. "So it seemed like a natural target for us to go after."

In the ASD mice, the researchers found a decrease in the number of oxytocin neurons in the hypothalamus and, overall, a decrease in oxytocin levels throughout the brain. But when they administered oxytocin to the ASD mice, sociability, defined as time spent interacting normally with other mice, was restored. Then, using a second strategy, the researchers also found that by giving the mice melanocortin, an agonist (which binds to specific receptors on a cell to activate it) caused a natural release of oxytocin from brain cells, which also improved social deficits.

"The study shows that a primary deficit in oxytocin may cause the social problems in these mice, and that correcting this deficit can correct social behavior," said Geschwind. "We were surprised as well to discover a relationship between the cntnap2 protein and oxytocin--the absence of cntnap2 effected oxytocin neurons in the hypothalamus."

The biggest surprise, though, said Geschwind, was finding that early postnatal administration of the oxytocin led to longer positive effects upon social behavior when measured several weeks later. "This suggests that there may be critical windows of time for treatment that are better than others."

Because the autistic mice share similar symptoms and behaviors with people on the autism spectrum, the model offered a promising way to test new therapies that may one day help people with autism. The next stage, said Geschwind, is determining how limited a treatment can be given during early development of the animal, refining the window of maximum therapeutic effect with the hope this therapy may someday be applicable to humans.

The study was funded by the National Institute of Mental Health (R01 MH081754-02R, NIH/NS50220); the NIH Autism Centers of Excellence (HD055784-01; 5R01-MH081754-04); Simons Foundation Autism Research Initiative; Autism Speaks (7657); NIH/National Institute of Neurological Disorders and Stroke (R01 NS049501 and R01 NS074312), and the Brain Disorder Award from McKnight Foundation.

---

Story Source:

The above story is based on materials provided by University of California, Los Angeles (UCLA), Health Sciences. Note: Materials may be edited for content and length.

---

Journal Reference:

1. O. Penagarikano, M. T. Lazaro, X.-H. Lu, A. Gordon, H. Dong, H. A. Lam, E. Peles, N. T. Maidment, N. P. Murphy, X. W. Yang, P. Golshani, D. H. Geschwind.Exogenous and evoked oxytocin restores social behavior in the Cntnap2 mouse model of autism. Science Translational Medicine, 2015; 7 (271): 271ra8 DOI: 10.1126/scitranslmed.3010257

---

Cite This Page:

University of California, Los Angeles (UCLA), Health Sciences. "Treatment restores sociability in autism mouse model." ScienceDaily. ScienceDaily, 22 January 2015. <www.sciencedaily.com/releases/2015/01/150122154818.htm>

Vitamin D deficiency possibly linked to autism

So, those of us residing in warm, sunny climates don't have to worry about this one as much but, I found it very interesting that there is a vitamin D deficiency in most people in the Middle East. It is certainly warm and sunny here! But, I have noticed that people don't tend to be outdoors anywhere near as much as somewhere like South Florida. 

More research needs to be completed but this shows what appears to be a correlation. The study showed that all of the children with African or Middle Eastern heritage had a deficiency. In people with dark skin, the pigment in the skin decreases the body's production of vitamin D so this may be a reason behind the people of African descent showing the deficiency (the test consisted of African people from Somalia.)   

Swedish Study Suggests Low Vitamin D at Birth May Increase Autism Risk. Researchers call for studies investigating whether prenatal vitamin D supplements can lower autism rates

January 20, 2015

A reported association between vitamin D deficiency at birth and autism may be particularly relevant for children born in winter at high latitudes. This graph (Holick, Mayo Clinic Proceedings) charts global prevalence of vitamin D deficiency in pregnant women and the general population.

A small Swedish study suggests that, as a group, children with autism have significantly lower vitamin D levels at birth compared to their siblings who develop typically. The researchers call for clinical trials exploring whether taking prenatal vitamin D supplements can lower autism risk.

The findings add to a growing body of research suggesting that vitamin D may play a protective role against autism – or conversely, that low levels could predispose some children to developing the disorder.

The researchers looked at vitamin D levels in dried blood spots taken at birth from 58 pairs of Swedish-born siblings (116 children total). In each sibling pair, one child had autism.

The group included 22 children from Somali-immigrant families. In recent years, a number of reports have described unusually high rates of autism among Somali immigrant families in high-latitude regions such as northern Europe, North America and Australia. Low vitamin D levels have been among the proposed explanations.

The sunshine vitamin

The body produces vitamin D in skin exposed to sunlight, which is limited in winter at high latitudes. Dark pigment further lowers the skin’s production of vitamin D.

Among the children who developed autism, the study found an average vitamin D level at birth of 24.0 nM (nanomoles per liter). By contrast, vitamin D levels averaged 31.9 nM among their siblings who developed typically.

Vitamin D levels above 30 nM are considered normal. Those between 20 to 30 nM are considered “insufficient.” Vitamin D deficiency is defined as less than 20 nM.

Winter Babies at Risk
As might be expected, the researchers found lower vitamin D levels among the children born in winter than those born in summer. They also found vitamin D deficiency in all the children with African and/or Middle Eastern heritage – regardless of when they were born or whether they developed autism.

“These new results suggest that vitamin D may be another nutritional factor important in the development of autism spectrum disorder during pregnancy and early life,” comments developmental pediatrician Paul Wang, Autism Speaks head of medical research. Previous research has shown that prenatal supplements containing folate (vitamin B9) can lower the risk of autism if started before conception and continued through pregnancy.

Still, Dr. Wang cautions that more study is needed. “The researchers found a wide range of vitamin D levels among the children with autism and an overlap in vitamin D levels between those who developed the disorder and those who did not. So there’s still much we don’t understand,” he notes.

“It may be that the link between autism and prenatal nutrition is particularly relevant for certain subgroups of children who are more vulnerable due to differences in genetic predisposition, diet or other environmental factors,” Dr. Wang adds.

In addition to sunlight exposure, sources of vitamin D include vitamin-fortified milk, fatty fish and, to a lesser extent, eggs. Vitamin D is also included in most prenatal and children’s vitamins.

To learn more, also read:

Vitamin D and Autism: A Case Report of Improved Symptoms

Study Finds High Rate of Autism among Minneapolis Somali Community

Vitamin D Status and Autism Spectrum Disorder: Is there an association?

More Evidence that Folic Acid Reduces Autism Risk

Two minute test may be able to diagnose autism

Scientists at Virginia Tech may have found a way to diagnose autism in two minutes with a brain imaging test.  If this pans out, it could save families the hours of difficult work currently necessary to qualify for services with a diagnosis of autism. Read Montague, the researcher, uses an MRI to make the diagnosis. This  sounds as if it could pose a problem who children who have difficulty remaining still but Montague recognized this potential downfall and has found a way to use a single image for the diagnosis. Additionally, this form of diagnosis could allow for earlier detection that is currently available.  

Virginia Tech scientists developing two-minute test for autism spectrum disorder

19 January 2015 - 2am PST

AVirginia Tech Carilion Research Institute scientists have developed a brain-imaging technique that may be able to identify children with autismspectrum disorder in just two minutes.

This test, while far from being used as the clinical standard of care, offers promising diagnostic potential once it undergoes more research and evaluation.

"Our brains have a perspective-tracking response that monitors, for example, whether it's your turn or my turn," said Read Montague, the Virginia Tech Carilion Research Institute professor who led the study.

"This response is removed from our emotional input, so it makes a great quantitative marker." he said. "We can use it to measure differences between people with and without autism spectrum disorder."

The finding, slated for online publication this week in Clinical Psychological Science, demonstrates that the perspective-tracking response can be used to determine whether someone has autism spectrum disorder.

Usually, diagnosis - an unquantifiable process based on clinical judgment - is time consuming and trying on children and their families. That may change with this new diagnostic test.

The path to this discovery has been a long, iterative one. In a 2006 study by Montague and others, pairs of subjects had their brains scanned using functional magnetic resonance imaging, or MRI, as they played a game requiring them to take turns.

From those images, researchers found that the middle cingulate cortex became more active when it was the subject's turn.

"A response in that part of the brain is not an emotional response, and we found that intriguing," said Montague, who also directs the Computational Psychiatry Unit at the Virginia Tech Carilion Research Institute and is a professor of physics at Virginia Tech. "We realized the middle cingulate cortex is responsible for distinguishing between self and others, and that's how it was able to keep track of whose turn it was."

That realization led the scientists to investigate how the middle cingulate cortex response differs in individuals at different developmental levels. In a 2008 study, Montague and his colleagues asked athletes to watch a brief clip of a physical action, such as kicking a ball or dancing, while undergoing functional MRI.

The athletes were then asked either to replay the clips in their mind, like watching a movie, or to imagine themselves as participants in the clips.

"The athletes had the same responses as the game participants from our earlier study," Montague said. "The middle cingulate cortex was active when they imagined themselves dancing - in other words, when they needed to recognize themselves in the action."

In the 2008 study, the researchers also found that in subjects with autism spectrum disorder, the more subdued the response, the more severe the symptoms.

Montague and his team hypothesized that a clear biomarker for self-perspective exists and that they could track it using functional MRI. They also speculated that the biomarker could be used as a tool in the clinical diagnosis of people with autism spectrum disorder.

In 2012, the scientists designed another study to see whether they could elicit a brain response to help them compute the unquantifiable. And they could: By presenting self-images while scanning the brains of adults, they elicited the self-perspective response they had previously observed in social interaction games.

In the current study, with children, subjects were shown 15 images of themselves and 15 images of a child matched for age and gender for four seconds per image in a random order.

Like the control adults, the control children had a high response in the middle cingulate cortex when viewing their own pictures. In contrast, children with autism spectrum disorder had a significantly diminished response.

Importantly, Montague's team could detect this difference in individuals using only a single image.

Montague and his group realized they had developed a single-stimulus functional MRI diagnostic technique. The single-stimulus part is important, Montague points out, as it enables speed. Children with autism spectrum disorder cannot stay in the scanner for long, so the test must be quick.

"We went from a slow, average depiction of brain activity in a cognitive challenge to a quick test that is significantly easier for children to do than spend hours under observation," Montague said. "The single-stimulus functional MRI could also open the door to developing MRI-based applications for screening of other cognitive disorders."

By mapping psychological differences through brain scans, scientists are adding a critical component to the typical process of neuropsychiatric diagnosis - math.

Montague has been a pioneering figure in this field, which he coined computational psychiatry. The idea is that scientists can link the function of mental disorders to the disrupted mechanisms of neural tissue through mathematical approaches. Doctors then can use measurable data for earlier diagnosis and treatment.

An earlier diagnosis can also have a tremendous impact on the children and their families, Montague said.

"The younger children are at the time of diagnosis," Montague said, "the more they can benefit from a range of therapies that can transform their lives."

Adapted by MNT from original media release

• References

Source: Virginia Tech Carilion Research Institute

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Visit our Autism category page for the latest news on this subject.

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MLA
Virginia Tech Carilion Research Institut. "Virginia Tech scientists developing two-minute test for autism spectrum disorder." Medical News Today. MediLexicon, Intl., 19 Jan. 2015. Web.
20 Jan. 2015. <http://www.medicalnewstoday.com/releases/288173.php>
APA
Virginia Tech Carilion Research Institut. (2015, January 19). "Virginia Tech scientists developing two-minute test for autism spectrum disorder." Medical News Today. Retrieved from
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MLA
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20 Jan. 2015. <http://www.medicalnewstoday.com/releases/288173.php>
APA
Virginia Tech Carilion Research Institut. (2015, January 19). "Virginia Tech scientists developing two-minute test for autism spectrum disorder." Medical News Today. Retrieved from
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Please note: If no author information is provided, the source is cited instead.

• Citations

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MLA
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20 Jan. 2015. <http://www.medicalnewstoday.com/releases/288173.php>
APA
Virginia Tech Carilion Research Institut. (2015, January 19). "Virginia Tech scientists developing two-minute test for autism spectrum disorder." Medical News Today. Retrieved from
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Great article about dietary and nutritional treatments for ASD

The article in the link at the end of my post comes from the Autism/Aspergers Research Program at Arizona State University and is written by James B. Adams, Ph.D, the director of the program. He summarizes dietary and nutritional programs based on information from over 150 different research studies. So, he has done all of the research for you and collated it into one spot.

A brief summary in the article states that "Autism is a very complex disorder, and involves many genetic and environmental factors that are not well-understood. However, there are many biomedical abnormalities that have been identified, and most can be treated to some degree. By following the testing and treatments outlined above, many individuals will improve to some degree, usually slowly
and steadily over months and years. Sometimes one treatment shows great benefit, but it is more common that each treatment helps a small amount. However, the cumulative effect of multiple treatments can be substantial."

I am a firm believer in the power of change that a good diet can have. Both for neuro-typical people and people on the spectrum.  If I get in a poor eating rut, I notice less energy, a lower tolerance for frustration and I will often catch whatever virus may be floating around at the time.  I have seen diet and nutrition have an even greater impact on people on the spectrum. It can often have a significant impact on their behavior which can be a life changer for families.

Unfortunately, the majority of people in the states eat a diet rich in processed foods and added sugars. My current country, Saudi Arabia, and many other countries, don't have many of the same issues as they don't have the same availability of processed foods so tend to eat a more whole food rich diet.  Any dietician, whether you visit for health or weight loss, will first and foremost tell you to cut out added sugars and processed foods.  The nutritional benefits of these two changes can make a world of difference, especially for people with ASD.

To dig deeper, many people have intolerances to gluten and casein (essentially wheat and dairy products) and people on the spectrum tend to be more sensitive to these intolerances, thereby it effects their behavior. There are many more foods that cause allergic reactions or that people may be intolerant of and, on the flip side, there are many improtant nutrients that we can derive from food that can have beneficial effects on health and wellness, and for people on the spectrum, behavior.

While committing to a strict eating routine can be difficult, especially in the beginning, the benefits can be significant and well worth the investment of time and energy in the long run. That being said, there is an abundance of information out there and it can be overwhelming to know where to begin. The following article is one of the most comprehensive, yet simple to understand, ones that I have seen on the subject. It is directed specifically towards people on the spectrum and it covers the topic thoroughly and clearly. Additionally, it only covers treatments that have been backed by research.

Each "treatment" section starts with a rationale of why the treatment may be effective, then proceeds to an explanation of the treatment and how to implement it, the possible benefits, the testing, and finishes with the research behind the treatment.

I highly recommend this article if you are considering a nutritional treatment plan, as a reference for better understanding if you already involved in one or as worth a look if you haven't considered or heard of nutritional treatments. Click here for the article.

Possibility of a drug reversing symptoms of ASD

Ok, so it has only been tested on a mouse so far...but it is still pretty exciting news! 

The premise is that cells shut down when exposed to "dangers," whether they be toxins, viruses or genetic mutations.  The scientists are calling this "cellular danger response." When they shut down, ordinary activities, such as communication between cells, is reduced. This can interfere with brain development and functioning.

This drug, which in the past has been used to treat sleeping sickness, seems to shut down the "cellular danger response" and restore cell functioning. The tests have been done on a Fragile X genetic mouse model and the drug has reversed the ASD symptoms.  

It still has a long way to go before a human application but I will be keeping a close eye on the research!

Century-old drug reverses autism-like symptoms in fragile X mouse model

Date: January 15, 2015

Source: University of California - San Diego

Summary: Researchers previously reported that a drug used for almost a century to treat trypanosomiasis, or sleeping sickness, reversed environmental autism-like symptoms in mice. Now, a new study suggests that a genetic form of autism-like symptoms in mice are also corrected with the drug, even when treatment was started in young adult mice.

Autism spectrum disorders (ASD) affect 1 to 2 percent of children in the United States. Hundreds of genetic and environmental factors have been shown to increase the risk of ASD. Researchers at UC San Diego School of Medicine previously reported that a drug used for almost a century to treat trypanosomiasis, or sleeping sickness, reversed environmental autism-like symptoms in mice.
Now, a new study published in this week's online issue of Molecular Autism, suggests that a genetic form of autism-like symptoms in mice are also corrected with the drug, even when treatment was started in young adult mice. The underlying mechanism, according to Robert K. Naviaux, MD, PhD, the new study's principal investigator and professor of medicine at UC San Diego, is a phenomenon he calls the cellular danger response (CDR). When cells are exposed to danger in the form of a virus, infection, toxin, or even certain genetic mutations, they react defensively, shutting down ordinary activities and erecting barriers against the perceived threat. One consequence is that communication between cells is reduced, which the scientists say may interfere with brain development and function, leading to ASD. 

Researchers treated a Fragile X genetic mouse model, one of the most commonly studied mouse models of ASD, with suramin, a drug long used for sleeping sickness. The approach, called antipurinergic therapy or APT, blocked the CDR signal, allowing cells to restore normal communication and reversing ASD symptoms. 

"Our data show that the efficacy of APT cuts across disease models in ASD. Both the environmental and genetic mouse models responded with a complete, or near complete, reversal of ASD symptoms," Naviaux said. "APT seems to be a common denominator in improving social behavior and brain synaptic abnormalities in these ASD models."

Weekly treatment with suramin in the Fragile X genetic mouse model was started at nine weeks of age, roughly equivalent to 18 years in humans. Metabolite analysis identified 20 biochemical pathways associated with symptom improvements, 17 of which have been reported in human ASD. The findings of the six-month study also support the hypothesis that disturbances in purinergic signaling -- a regulator of cellular functions, and mitochondria (prime regulators of the CDR) -- play a significant role in ASD.

Naviaux noted that suramin is not a drug that can be used for more than a few months without a risk of toxicity in humans. However, he said it is the first of its kind in a new class of drugs that may not need to be given chronically to produce beneficial effects. New antipurinergic medicines, he said, might be given once or intermittently to unblock metabolism, restore more normal neural network function, improve resilience and permit improved development in response to conventional, interdisciplinary therapies and natural play

"Correcting abnormalities in a mouse is a long way from a cure in humans," cautioned Naviaux, who is also co-director of the Mitochondrial and Metabolic Disease Center at UC San Diego, "but our study adds momentum to discoveries at the crossroads of genetics, metabolism, innate immunity, and the environment for several childhood chronic disorders. These crossroads represent new leads in our efforts to understand the origins of autism and to develop treatments for children and adults with ASD."

Co-authors include Jane C. Naviaux, Lin Wang, Kefeng Li, A. Taylor Bright, William A. Alaynick, Kenneth R. Williams and Susan B. Powell, all at UC San Diego

This study was supported, in part, by the Jane Botsford Johnson Foundation, the UC San Diego Christini Foundation, the UC San Diego Mitochondrial Research Fund, and the Wright Family Foundation.

Story Source:

The above story is based on materials provided by University of California - San Diego. The original article was written by Scott LaFee. Note: Materials may be edited for content and length.

Journal Reference:

1.      Jane C Naviaux, Lin Wang, Kefeng Li, A Taylor Bright, William A Alaynick, Kenneth R Williams, Susan B Powell and Robert K Naviaux. Antipurinergic therapy corrects the autism-like features in the fragile X (Fmr1 knockout) mouse model. Molecular Autism, 2015 DOI: 10.1186/2040-2392-6-1

University of California - San Diego. "Century-old drug reverses autism-like symptoms in fragile X mouse model." ScienceDaily. ScienceDaily, 15 January 2015. <www.sciencedaily.com/releases/2015/01/150115163535.htm>.