I am always looking for new treatments for children with autism and this one interests me because it is used with such young children. Research points to the success of early intervention plans in helping children with autism and this treatment is used with infants, which means it is targeting children 3-4 years earlier than current early intervention programs. The premise behind the treatment is that if an infant is showing some of the early risk markers for autism such as "lack of attention to a parent, reduced social interest or engagement, and decreased eye contact" it may be beneficial for them to start the video feedback therapy. It entails taking video of parents engaging with their child and then watching the videos and getting feedback about the interactions. Parents can then tailor their interactions with there child in a way that helps the child decrease the maladaptive social behaviors. The most interesting piece of this is that these types of interventions, when used on older children, help improve the parent and child interactions but don't do much in terms of improving the overal social skills of the child. Whereas, when done in infants, it appears to actually decrease some of the risk markers for autism in those infants.
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.
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 theJournal
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."
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.
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>
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 researchhas 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.
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 withautismspectrum 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."
Click 'references' tab above for source.
Visit our Autism category page for the latest news on this subject.
Please use one of the following formats to cite this article in your essay, paper or report:
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 http://www.medicalnewstoday.com/releases/288173.php.
Please note: If no author information is provided, the source is cited instead.
Click 'references' tab above for source.
Visit our Autism category page for the latest news on this subject.
Please use one of the following formats to cite this article in your essay, paper or report:
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 http://www.medicalnewstoday.com/releases/288173.php.
Please note: If no author information is provided, the source is cited instead.
Click 'references' tab above for source.
Visit our Autism category page for the latest news on this subject.
Please use one of the following formats to cite this article in your essay, paper or report:
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 http://www.medicalnewstoday.com/releases/288173.php.
Please note: If no author information is provided, the source is cited instead.
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.
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>.
This new blood test can detect anti-bodies in a mother's blood that causes approximately 23 percent of autism cases. They hope to have it on the market in the third quarter of the year.
Autism blood test nears market
Pediatric Bioscience test detects maternal antibodies linked to autism
By Bradley J. Fikes 08:57a.m. Jan 15, 2015, updated 11:30a.m. Jan 17, 2015
In a potentially major advance in diagnosing autism spectrum disorder, San Diego's Pediatric Bioscience is preparing to sell a blood test later this year that would detect risk of one of its most common forms.
The company's test detects antibodies in a woman’s blood that can cause what it calls “maternal autoantibody-related” autism, which the company says, based on clinical studies, represents 23 percent of all autism cases.
The test delivers a false positive response just 1.3 percent of the time, said Jan D’Alvise, the company's president and chief executive.
If the test lives up to its billing, it could significantly improve care and prevention of autism spectrum disorder, which now occurs in 1 of 68 births. The disorder is treatable with therapy to encourage social skills. But therapy works best when started as early as possible, when the brain is still young and plastic.
"About 500,000 kids are born with developmental delays each year," she said. "Pediatricians say it can take six to 12 months to be referred to a specialist for diagnosis."
A positive test in mothers of infants or young children could expedite referral for assessment, she said. Also, if given before a planned pregnancy, the test could help women decide whether they should turn to parenting alternatives such as surrogate pregnancy or adoption.
Children of those who test positive would be sent to a specialist for a final diagnosis, expediting therapy.
Pediatric Bioscience plans to start selling the test in the third quarter of this year, D'Alvise said at the Biotech Showcase conference in San Francisco, an annual meeting of biotech investors and companies held concurrently with the JP Morgan Healthcare Conference. The company is now raising funds for that launch.
The test will cost about $1,000, and the company will partially subsidize the test for the women who aren't able to pay. Insurers are expected to reimburse for the test once they're familiar with it and have received recommendations from clinicians.
The market for such a screening method could be worth $1.8 billion annually, D’Alvise said.
While the form of autism identified by the test represents less than a quarter of all cases, a positive response for a potential mother greatly increases the overall risk, D'Alvise said at the conference.
Women who have a child with a developmental delay already have a 12 percent chance of having an autistic child. But the chance rises to 64 percent chance for those who score positive on the test.
Women who already have an autistic child have an overall 17 percent risk of having another autistic child; that risk jumps to 72 percent for those who score positive.
Risk is also higher in general for women over the age of 35.
According to the U.S. Centers for Disease Control and Prevention, about 1.2 million Americans younger than 21 have autism. That’s 30 percent higher than what the CDC reported two years ago, and more than double what the agency calculated in 2002.
Behavioral tests
No test now exists that reliably links autism to biological markers, said Eric Courchesne, a top autism researcher at UC San Diego. Genetic variants have been found that correlate with autism, but these represent only a "very, very tiny subset" of all autism cases, Courchesne said.
"For some of those genes, defects are found in non-autistic individuals as well," he said. "So the search for genetic markers of autism is ongoing."
Tests for autism all look for behavioral clues, said Courchesne, who recently published research pointing to structural abnormalities in the brains of autistic children. These abnormalities were found by examining postmortem brain tissue from children with and without autism, all between the ages of 2 and 15.
But such analysis can't be performed on the living, so assessments look at behavior.
In 2010, UC San Diego autism researcher Karen Pierce co-authored a study in the Archives of General Psychiatry showing that an autism diagnosis was foreshadowed for infants as young as 14 months if they preferred seeing movies of geometric shapes to children dancing or doing yoga.
And abnormalities in eye-tracking in 2-to-6-month-old infants correlate to later autism diagnosis. Research on the correlation was published by Emory University researchers in November, 2013 in the journal Nature.
These tests indicate that the attention of autistic children is fixated on objects instead of other people.
Immune research
Pediatric Bioscience chief executive D'Alvise said the company started developing its test several years ago, based on studies led by UC Davis researcher Judy Van de Water, an immunologist who has long been investigating how the immune system is involved with autism.
Pediatric Bioscience's blood test for autism is based on studies led by UC Davis researcher Judy Van de Water.
Scientists traditionally assumed that immune activity was reduced in pregnant women to allow the mother to tolerate the developing baby. However, recent research has found that the immune system becomes hyperactive.
For example, a study by Stanford University researchers found that the immune cells of pregnant women over-react to flu viruses. The research, led by Dr. Catherine Blish, was published Sept. 22, 2014 in the Proceedings of the National Academy of Sciences.
Because of this hyperactivity, the test isn't appropriate for pregnant women, D'Alvise said.
In autism, the theory is that in some women, antibodies attack certain proteins important to the fetal brain, impairing its normal development.
Van de Water and colleagues have so far identified seven antibodies involved in autism. They expect to find more as research continues.
In their most recent study, published in the journal Cerebral Cortex, the scientists tested the effect of human maternal autoantibodies on fetal mice. They found that the antibodies affect glial brain cells in the ventricular zone of the developing mouse brain. This provides a mechanism to explain development of autism, the study concluded.
Elizabeth Thomas, a scientist who studies autism and other neurological disorders at The Scripps Research Institute, commended Van de Water and colleagues as "pioneers in this provocative area of research." However, Thomas, who was sent the Cerebral Cortex study for review, said the research isn't quite at the stage where an autism spectrum disorder test should be marketed.
"While these studies are compelling to provide a pathogenic mechanism for how maternal antibodies may cause ASD symptoms, it is still not clear that the implicated proteins are the most relevant ones for ASD; hence it seems a bit premature to be marketing a diagnostic test for ASD based on these proteins," Thomas said by email.
"Antibodies often bind to many possible targets. A more convincing study would employ the use of individual antibodies purified against each of the proteins making up the diagnostic screen, and studying their effects on mouse neurodevelopment and behavior," Thomas wrote.
D'Alvise replied that she is aware of the criticism among researchers, but is confident the test will pass regulatory muster and be clinically useful. The test is now being examined for certification for use in a lab certified under CLIA standards.
"We have a team who has done this so many times, who have launched literally hundreds of clinical diagnostic tests," D'Alvise said. "We know what is required, and we all wouldn't be so dedicated and committed to this if we didn't believe that this test is going to meet all the standards with flying colors."
While more research is needed and ongoing, D'Alvise said the set of autoantibodies used in the test functions as a "very specific set of biomarkers for a major subtype of ASD."
The test will go through a large, blinded clinical validation study, which the company plans to complete this spring, D'Alvise said. The results will then be presented to CLIA. The company expects CLIA will then certify the Pediatric Bioscience testing laboratory, allowing it to market the test.
Van de Water also replied in an emailed response, stating that the research on the maternal autoantibodies extends far beyond the Cerebral Cortex article and even autism itself.
"The notion that an autoantibody can be a useful biomarker of disease risk, even when the role of those autoantibodies in disease pathogenies remains unclear, has precedence in several autoimmune disorders including those associated with SLE (anti-Ro/SSA, anti-La/SSB, anti-snRNP, and anti-Sm, and anti-double stranded DNA (anti-dsDNA))," van de Water wrote.
"While detection of autoantibodies to these nuclear antigens have been used for the diagnosis and monitoring of SLE for decades, their specific role in the pathology of this disorder are still largely unknown. This is the case for several, but not all, autoantibody associated autoimmune disordersm" Van de Water wrote.
"While it is hoped that in the future we might be able to use our knowledge regarding the identity of these autoantigens to explore possible therapeutic avenues, there is still a great deal of research to be done regarding which of the autoantibodies are most relevant to the changes in brain development."
From research to test
As one part of getting the findings from research to clinical use, Pediatric Bioscience had to calibrate how to interpret the presence or absence of the maternal antibodies to make the test reliable, with a special emphasis on reducing false positives. This is important to avoid providing false alarms.
At the same time, a positive result must predict a significant enough increase in risk to make it worthwhile.
The test was originally scheduled to launch late last year. During that time, the company changed how it performs the screening — from a complicated manual process that takes highly trained personnel to run -- to a more automated system that can scale to to the volume expected. D'Alvise said the automated system provides results as good or probably better than the original method.
“That gave us the confidence to move into full-stage development,” she added.
The company, which now has about 7 full-time employees, is preparing to expand with the introduction of the test. The company expects to have about 18 employees by the end of 2015, D'Alvise said.
