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Friday, December 21, 2012

Effective or Health Fraud? DNA Testing and Autism

Autism Cures Promised by DNA Testers Belied by Regulators - Businessweek

April Hauge, a nurse practitioner in Weimar, California, spent $500 on a genetic test for her autistic son in 2009 that led to purchasing thousands of dollars in vitamins and supplements. Impressed with the results, she’s now selling advice on the approach to others.
There’s just one problem: the DNA tests and related treatments have scant backing from science and U.S. government officials. They’re untested, unproven, and may constitute “health fraud,” doctors, regulators and concerned parents said.
For alternative-medicine providers in general, the genetic tests are nothing but a “marketing tool” to sell unproven treatments, said James Laidler, a retired physician and adjunct professor at Portland State University whose 19-year-old autistic son has tried alternative therapies.
“You always hear the testimonials from the people who got better, not the people who stayed the same or got worse,” Laidler said. “They don’t want to hear somebody saying this is snake oil.”
Doctors and clinics across the U.S. are using the exploding science of DNA testing to feed anxieties and sell hope to people with autism and other hard-to-treat disorders.
Emboldened by meager state and federal regulation, purveyors of alternative medicine offer genetic tests costing hundreds of dollars to worried parents and patients, and then sell advice on supplements and diet based on results purporting to spot disease-causing deficiencies. They claim to be the panacea for everything from autism to chronic fatigue syndrome to the effects of aging.

More @

Tuesday, December 11, 2012

Bumetanide (aka Bumex or Burinex), Common Heart Drug, and Autism Symptoms

Common Heart Drug Might Dampen Some Autism Symptoms - US News and World Report: "TUESDAY, Dec. 11 (HealthDay News) -- A medication typically prescribed to control high blood pressure that's commonly referred to as a water pill may ease some of the symptoms of autism, researchers say.

That's especially true for people who have milder forms of the disorder, the new research indicates.

"Bumetanide is a promising novel therapeutic agent to treat autism," wrote the study's authors, who were quick to point out that this treatment is not a cure for autism and that larger trials need to be done to determine who would benefit most from this treatment."

'via Blog this'

Monday, November 26, 2012

Ketogenic Diet in a Pill

Pill May Replace Ketogenic Diet For Epilepsy

New drugs derived from components of a specific diet used by children with severe, drug-resistant epilepsy could offer a new treatment, according to research published today in the journal Neuropharmacology. 

Scientists from Royal Holloway, in collaboration with University College London, have identified specific fatty acids that have potent antiepileptic effects, which could help control seizures in children and adults. 

The discovery could lead to the replacement of the ketogenic diet, which is often prescribed for children with severe drug-resistant epilepsy. The high fat, low carbohydrate diet is thought to mimic aspects of starvation by forcing the body to burn fats rather than carbohydrates. Although often effective, the diet has attracted criticism, as side effects can be significant and potentially lead to constipation, hypoglycaemia, retarded growth and bone fractures

More @ 

Wednesday, November 7, 2012

Autism and the Shank3 Protein

Understanding Of Cause Puts Treatment For Autism... |

Scientists at Auckland University's Centre for Brain Research say they have gained new understandings of the causes of autism, opening up new avenues for possible treatment.
The ground-breaking research, done in collaboration with Stanford University in the United States, looked at brain cell communication and genetic mutations in people with autism.
The team discovered that autism was caused by mutated brain proteins, called Shank3, weakening communication between brain cells.
Head researcher Jo Montgomery said that the discovery was exciting because it meant treatments could be investigated.
"Brain cells are incredibly sociable cells in the brain and they talk to each other all the time," she said.
"There are about 10 trillion brain cells connected by about 10 billion synapses which gives you an idea of how much chatter is going on in your brain at one time, and all that chatter underlies how you see things, how you move, how you learn and how you remember things.

Friday, November 2, 2012

Monday, October 22, 2012

Cord blood stem cells, Potential autism treatment

Cord blood stem cells being tested for potential treatment of autism - Huntsville healthy living |

... the U.S. Food and Drug Administration announced the agency had given researchers the go-ahead to launch a small study in children with autism to evaluate whether a child's own umbilical cord bloodmay be an effective treatment. 
Thirty children with the disorder, aged 2 to 7, will receive injections of their own stem cellsfrom umbilical cord blood banked by their parents after their births. 
Scientists at Sutter Neuroscience Institute, in Sacramento, Calif., said the placebo-controlled study will help determine whether the stem cell therapy helps improve language and behavior in the youngsters. 
There is anecdotal evidence that stem cell infusions may have a benefit in other conditions such as cerebral palsy, said lead study investigator Dr. Michael Chez, director of pediatric neurology at the institute. 
More @

Alzheimer Drug Memantine and Autism: Study

Memantine is the first in a novel class of Alzheimer's disease medications acting on the glutamatergic system by blocking NMDA-type glutamate receptors. It was first synthesized by Eli Lilly and Company in 1968. Memantine is marketed under the brands Axura and Akatinol by MerzNamenda by ForestEbixaand Abixa by Lundbeck and Memox by Unipharm.

International Trial Study is Enrolling Children with Autism

A global clinical trial involving South Florida children is studying a drug that — if proven safe and effective — would deliver a dose of hope to the autism community.
ConnectMe, an international initiative with more than 85 study centers in the United States and 185 worldwide, is investigating the effects of memantine on children with autismAsperger’s and atypical autism(also called pervasive developmental disorder not otherwise specified, or PDD-NOS). The hope is it will help treat the communication and social limitations at the heart of these disorders.
Billed as the largest study of its kind, ConnectMe is now enrolling South Florida children, according to Forest Laboratories Inc., the New York City-based pharmaceutical company leading the study.
If it’s shown to convincingly and safely improve trial participants’ impairments in interacting and communicating with others, researchers would seek the FDA’s nod as the first drug approved for offsetting autism’s core effects, said Dr. Peter Ventre, co-owner and principal investigator for Research Centers of America in Oakland Park, which is leading the study in South Florida.

Tuesday, October 16, 2012

Autism and the Single Nucleotide Polymorphisms (SNP) Mystery

"Autism and the Single Nucleotide Polymorphisms (SNP) Mystery" sounds like a really bad episode of Scooby Doo.  Learn about SNPs at The University of Utah: Genetic Science Learning Center.

Important Breakthrough In Our Understanding Of Autism Risk

The causes of autism and autism spectrum disorder (ASD) are complex, and contain elements of both nature (genes) and the environment. New research published in BioMed Central's open access journal Molecular Autism shows that common genetic polymorphisms (genetic variation) can add up to an increased risk of ASD.  

The contribution of inheritance and genetic mutation versus environmental factors to the risk of ASD is hotly debated. Most twin studies show the contribution heavily tilted toward inheritance, but the exact amount of involvement of genes in ASD risk is less apparent. This is because, while the impact of rare genetic variations on ASD risk is becoming clear, the role of more common variations, so called single nucleotide polymorphisms (SNP), remains unresolved. 
The Gist:
Researchers analyzed one million of the common gene variations in each participant's genome and determined that in families with only one affected child, heredity was the root cause of 40%, the other 60% are presumed environmental in nature. Families where more than one child has autism see these numbers flipped.  The chance of heredity being the root issue increases to 60% in these cases.

Wednesday, October 3, 2012

IVIG, Seizures, and Autism Spectrum Disorder

Considering doing IVIG (Intravenous immunoglobulin) treatment for my 11 year old daughter with autism. I have mixed feelings about the treatment for a few reasons.

  1. It is a blood product derived from 1000+ donors.  
  2. Reduction in autism related symptoms are temporary at best.
  3. Other potential side effects (headachedermatitisinfection (such as HIV or viral hepatitis) by contaminated blood product, as of yet unknown risk of contracting variant CJD (vCJD), pulmonary edema from fluid overload, due to the high colloid oncotic pressure of IVIG, allergic/anaphylactic reactions; for example, anaphylactic shock), hepatitisacute kidney injuryvenous thrombosisaseptic meningitis)
  4. Multiple treatments to see benefit, if any.

That said, my daughter has autism with a side of intractable seizures, which are one of if not the leading cause of death for people with autism.  While I am dubious about the benefit related to autism symptoms, there does look to be a lot of research showing benefits related to seizures.

Or not ...

Thursday, September 13, 2012

Daughter poisoned with Miracle Mineral Supplement (MMS)

This poster does not mention autism.  MMS clearly crosses the line of sane treatments for any malady.

My daughters mother is poisoning her..PLEASE HELP? - Yahoo! Answers

My daughters mother has recently told about a "Miracle Cure", but did not tell me she had purchased it. Last night I did extensive research about this "cure" and found many many claims for how good it is..Its cured cancer, aids. malaria and all other types of things...Then I ran into a truth forum about this stuff...Its called Miracle Mineral Solution or MMS...It used to be called, until the FDA came with warnings against this product...Now it can only be sold as water purification solution not as a cure...its nasty stuff...its sodium chlorite, not to be confused with sodium chloride or table salt...its used to bleach paper and textiles, and as a water purification...anyway the point...I spoke to my daughters mother again tonight, and she told me my daughter wasnt feeling well,, coughing runny nose, she gave her this "cure" and now she is better but still has a fever......she is poisoning my daughter...if she wants to do it to herself fine, but I draw a line at my daughter...who can I tell who will do something about this?? CPS? Dyfus? Please help...i am seriously upset by this and do not want my daughter there a minute longer...remember the FDA has said this
The U.S. Food and Drug Administration is warning consumers not to take Miracle Mineral Solution, an oral liquid also known as “Miracle Mineral Supplement” or “MMS.” The product, when used as directed, produces an industrial bleach that can cause serious harm to health.

Monday, September 10, 2012

Branched Chain Amino Acids (BCAAs) and Autism

Autism with Epilepsy May Respond to Supplement

For a small number of individuals with autism, a supplement may be an effective form of treatment. Researchers have discovered a type of autism with epilepsy that is associated with a gene mutation, and that it could respond to certain amino acids.
 In the subset of individuals who have both autism and epilepsy, scientists from the University of California, San Diego, and Yale University have discovered that some have a gene mutation that accelerates the metabolism of branched chain amino acids (BCAAs), which leaves them with a deficiency of this element.
 More @

Thursday, August 23, 2012

Low dose sedative (benzodiazepine clonazepam) as Autism Treatment?

Low dose sedative may be new Autism treatment - Birmingham science news |

University of Washington researchers led by Dr. William Catterall reported the first successful elimination of autistic-like behavior in mice with a mutation that causes Dravet syndrome in humans using very low doses of the benzodiazepine clonazepam in the journal Nature on August 23, 2012. The research was reviewed at the Eureka Alert web site on August 22, 2012.

Wednesday, August 22, 2012

Umbilical cord stem cells could help treat autism

Stem cells from umbilical cord could help treat autism |

SACRAMENTO, CA - At 4-years-old Rydr Rudgers is able to eat, speak, and walk -- all things his family wasn't sure he'd ever do after being diagnosed with cerebral palsy as an infant.
"He was born without any brain stem functions; no sucking, no swallowing, no breathing," said Rydr's mother Elisa.
When Rydr was 15-months-old, he began stem cell infusions from his cord blood that was saved in a stem cell bank. Rydr is making great progress after three infusions and can even feed himself.
"These are like huge milestones that people don't think about, but actually being able to hold a fork and eat a sandwich is, in our world, an unanticipated milestone and it's amazing," Elisa Rudgers explained.
"Like autism, cerebral palsy or brain injuries of that nature are a diffused population, it's not one cause," said Dr. Michael Chez, who is the Medical Director of Pediatric Neurology at the Sutter Neuroscience Institute.

Thursday, July 12, 2012

Which came first? The autism or the seizures?

Which came first, the autism or the seizures?  Many people with autism have seizures, but could seizures early in life lead to autism?  My daughter had her first seizure at 4 months and several very lengthy seizures at around 8 months.

PLoS ONE: The Interaction between Early Life Epilepsy and Autistic-Like Behavioral Consequences: A Role for the Mammalian Target of Rapamycin (mTOR) Pathway
Early life seizures can result in chronic epilepsy, cognitive deficits and behavioral changes such as autism, and conversely epilepsy is common in autistic children. We hypothesized that during early brain development, seizures could alter regulators of synaptic development and underlie the interaction between epilepsy and autism. 

Purkinje cells, Autism and Rapamycin

One Gene, One Drug Affect Autism Behaviors in Mouse Model | Science News | Autism Speaks

Harvard researchers found that deleting one gene in certain brain cells causes autism behaviors in mice. They also discovered that treating the mice with rapamycin, an immunosuppressant drug, prevents the symptoms. Autism Speaks partially funded the study, published this month in the journal Nature. 
The findings represent an important step in figuring out brain pathways that cause autism, explains the study’s senior author, Mustafa Sahin, Ph.D., associate professor of neurology at Harvard University. It also represents a very early step in determining whether rapamycin or drugs like it can help individuals with autism. 
Past research has associated autism with certain brain cells in the cerebellum, a region involved in coordinating brain activity. These cells, called Purkinje cells, play an essential role in normal brain function. Studies using post-mortem tissue show that many individuals with autism have fewer of these cells than is normal. 
Dr. Sahin and his team wanted to better understand the link between Purkinje cells and autism. They deleted one gene in the Purkinje cells of mice. Specifically, they deleted a gene associated with the rare disorder tuberous sclerosis complex (TSC). Nearly half of all individuals with TSC develop autism. Studying single-gene disorders associated with autism helps researchers pinpoint affected brain circuits and test potential treatments, Dr. Sahin explains. 
Deleting the gene (either one or both copies) caused all three of autism’s core behaviors .... More @

Wednesday, June 27, 2012

Autism + Eggs = Relief? Adding Cholesterol to Diet Reduces Symptoms of Autism ???

Adding Cholesterol to Diet Reduces Autism Symptoms | Health Impact News

.. our brains are made up of a significant amount of cholesterol, he starts with the assumption that those with Autism may not be suffering from too much cholesterol, but in fact may be suffering from too little

Friday, June 15, 2012

Screening May Catch Autism in Kids With Epilepsy : Family Practice News

Screening May Catch Autism in Kids With Epilepsy : Family Practice News

In a pair of pediatric epilepsy units, 77% of children screened positive for development delay, and 36% screened positive for autism. About one-third of those children were previously undiagnosed.
Because the conditions often occur concurrently, a screening of children 5 years and younger can make a life-changing difference, Anne Berg, Ph.D., said at the annual meeting of the American Epilepsy Society.
"Our hope is that we can begin catching these problems earlier to get beneficial interventions in place, which, hopefully, will lead to better long-term outcomes for these children," she said at a press briefing.

Wednesday, May 30, 2012

Nutritional therapy (NAET) Autism Treatment

Nutritional therapy may be key to stopping autism | Fox News

In the last two years, autism cases have increased by 23 percent, according to the Centers for Disease Control and Prevention. That means that one in every 88 children in the United States is on the spectrum. 
While there are various treatment options available for children suffering from autism, Dr. Jacob Teitelbaum, medical director of the National Fibromyalgia and Fatigue Centers, recently conducted a study that revealed food and nutrient sensitivities play a significant role in the lives of autistic children. 
“With the average American getting over 150 pounds of sugar each year, and there being almost 85,000 new chemicals that have been added to our environment, it has become very difficult for many people's immune systems to tell friend from foe,” Teitelbaum said.  “This has resulted in a marked increase in sensitivities, especially to common foods.” 
The study, funded by the NAET research foundation, utilized what is known as the NAET treatment –a method that involves a desensitization technique that ultimately “teaches the immune system to get back in harmony with the environment,” Teitelbaum said.

OK, I was following until it got to this part which gets a tad out there ...

NAET is a holistic treatment that is used to eliminate allergies of all types. According to NAET’s website, the technique uses “a blend of selective energy balancing, testing and treatment procedures from acupuncture/acupressure, allopathy, chiropractic, nutritional, and kinesiological disciplines of medicine.” 
“It is really very simple,” Teitelbaum said of NAET.  “The person holds the substance that they are sensitive to while the NAET practitioner presses on some acupressure points along the spine.”

Read more:

Antioxidant Supplement N-Acetylcysteine (NAC) and Autism

Antioxidant shows promise as treatment for certain features of autism

ScienceDaily (May 29, 2012) — A specific antioxidant supplement may be an effective therapy for some features of autism, according to a pilot trial from the Stanford University School of Medicine and Lucile Packard Children's Hospital that involved 31 children with the disorder. 

The antioxidant, called N-Acetylcysteine, or NAC, lowered irritability in children with autism as well as reducing the children's repetitive behaviors. The researchers emphasized that the findings must be confirmed in a larger trial before NAC can be recommended for children with autism. 
Irritability affects 60 to 70 percent of children with autism. "We're not talking about mild things: This is throwing, kicking, hitting, the child needing to be restrained," said Antonio Hardan, MD, the primary author of the new study. "It can affect learning, vocational activities and the child's ability to participate in autism therapies." 
The study appears in the June 1 issue of Biological Psychiatry. Hardan is an associate professor of psychiatry and behavioral sciences at Stanford and director of the Autism and Developmental Disabilities Clinic at Packard Children's. Stanfordis filing a patent for the use of NAC in autism, and one of the study authors has a financial stake in a company that makes and sells the NAC used in the trial.

Tuesday, May 29, 2012

'Sensory' Therapies for Autism - No Evidence They Work?

Doubt Cast on Usefulness of 'Sensory' Therapies for Autism - Yahoo! News

MONDAY, May 28 (HealthDay News) -- Sensory therapies using brushes, swings and other play equipment are increasingly used by occupational therapists to treat children with developmental issues such as autism, but a large pediatricians organization says there isn't much evidence that such therapies actually work
Still, the group isn't completely discounting the potential of sensory therapies -- it's a ripe area for research, it noted. 
But before parents spend the time and money on taking children to sensory therapy, they should know that, as of now, the techniques are largely unproven
"It's OK for parents to try these types of therapies, but there is little research backing up the effectiveness of these therapies and whether or not they improve long-term outcomes for kids with developmental disabilities," said Dr. Michelle Zimmer, an assistant professor of pediatrics at Cincinnati Children's Hospital Medical Center.

Wednesday, May 16, 2012

Timing of Seizures: Frontal lobe (Noon to Midnight); Temporal lobe (Midnight and Noon)

Very interesting.  My daughter has seizures and they happen after noon and usually later in 99% of the time.  We are able to coordinate riskier activities like swimming in the morning.  We also tend to book air plan flights in the morn to avoid seizure on the plane, etc.  Does anyone else have experience with seizures that happen only at certain parts of the day?

Timing of Seizures |
The investigators analyzed records from patients who had an ambulatory EEG from 24-72 hours. They maintained a log of symptoms and signaled the time when symptoms occurred by pushing the event detection button during their EEG. Eight Hundred Thirty-one (831) reports were analyzed and 44 patients had definite seizure events. A total of 129 seizures were recorded with various locations in the cortex. Frontal lobe seizures occurred more frequently between noon and midnight as compared to temporal lobe seizures which occurred much more frequently between midnight and noon. A separate analysis of the frontal lobe seizures revealed a cluster of seizures that tended to center around 6:33 a.m. Temporal lobe seizures had 24 seizures that seemed to cluster around 8:50 p.m.
More @

Colorful, technological approach to autism | |

Colorful, technological approach to autism | |

Nish Parikh wanted to reach autistic children and ultimately help them become more independent. He thought about what his own children liked — technology, animation, color, fun characters and positive reinforcement. So he set about trying to reach autistic children using those principles.
Parikh, CEO of Somerset-based WebTeam Corp., developed Shanesh Colors Program, an “interactive, educational intervention program for children with learning disabilities or with autism or autism spectrum related disorders.” The program involves the use of kiosks in schools or in his after-school program, and he also designed apps to be used at home.
“It’s an innovative way to deliver evidence-based therapy like Applied Behavior Analysis (ABA),” Parikh said, adding that there also is an integrated tracking and monitoring system.
Parikh owns Shanesh’s COLORS Academy at Raritan, which uses the program via special touchscreen kiosks and cameras recording their success. Children use colorful and animated apps designed specifically for their needs in the after-school program to reinforce their Individualized Education Plan (IEP).

Risperdal and S100B: Prolactin, Tumors and Tardive Dyskinesia - AGE OF AUTISM

Risperdal and S100B: Prolactin, Tumors and Tardive Dyskinesia - AGE OF AUTISM

With Autism numbers climbing, there are those who look to the profit margin of knowing thousands of children, teens and young adults may need medications to "target behavior."   It is unfortunate and incorrect that Autism is still being looked at as a behavioral and developmental disability for many instead of a neuroimmune disease that manifests in repetitive behaviors, anxiety and verbal/social regression. For many, like my daughter, that regression came about after vaccinations.  These children tend to be very vulnerable canaries to toxins, thus medications can prove to be problematic for many.  It is important to know the mechanism of action in treating symptoms short term, but especially long term as some of these drugs have severe side effects that increase with dosage as well as duration.  

Recently, I wrote about a new study showing that over a third of children with an autism diagnosis had high levels of S100B in their blood, a calcium-binding protein that is produced primarily by astrocytes and is indicative of active brain injury.  While reading about S100B, I started to realize that some abstracts and research about Risperdal and other anti-psychotic medications were appearing that seemed to show a pattern.  
More @

Monday, May 14, 2012

Autism expert urges more research - and skepticism | The Marion Star |

Autism expert urges more research - and skepticism | The Marion Star |

MARION - Beware of snake-oil salesmen.
That time-old saying is true today, according to an autism expert who spoke recently at The Ohio State University at Marion.
Joshua Diehl, who has extensively researched autism, addressed a packed Guthery Room in Maynard Hall. Diehl focused on research-backed treatment options for autism while discussing upcoming changes to how autism is classified.
He also warned parents to be careful when they hear something online promising a new treatment for autism, suggesting some of the promises to be true.

Tuesday, May 1, 2012

Anat Baniel Method and Austism Spectrum Disorder (ASD)

Austism Spectrum Disorder

More About Treatment for Autism in Children with the Anat Baniel MethodIt is estimated that one in 100 children is on the autism spectrum. The diagnosis is mostly based on the observation of repetitive, restricted and stereotypical patterns of behavior and on impairments in communication skills and in social interactions. 
With the Anat Baniel Method we see the compulsiveness and rigidity that these kids exhibit, coupled with their difficulty to relate, to transition and their often compromised coordination and poor organization of movement, as a manifestation of their brain’s inability to differentiate and form patterns like those in healthy brains. 
Movement is the language of the brain. Movement communicates with the brain, providing it with the necessary information it requires to form and organize itself, and in turn, through its experiences, to learn to organize the movements of the body, of thinking, of feeling, of emotion, and of all action. To understand more about these ideas, we recommend reading Kids Beyond Limits.When we work with a child on the autism spectrum, rather than try to make him do what he would have been doing had he not had this condition, which frequently leads to limited results, we use movement with attention and the other Nine Essentials to communicate with the child’s brain, helping it heal. As a result the child begins connecting more fully with himself, with his body and with what he feels, awakening his attention and his ability to make sense of himself and the world around him.You can learn more about how the method works by doing Anat’s workshop for parents of special needs kidsMore @

Thursday, April 5, 2012

Miracle Mineral Supplement (MMS) is not an autism treatment, it's poison!

Miracle Mineral Supplement (MMS) Is Toxic!

Miracle Mineral Supplement (MMS) is being touted on the Internet as a natural antibiotic and cure-all for a wide range of diseases and afflictions: colds and flu (including swine flu), malaria, cancer, "HIV & AIDS," fungus, and, more recently, autism. But MMS is actually a synthetic industrial chemical - it is a concentrated (28%) chlorine bleach - sodium chlorite. When MMS is "activated," it creates CLO2, chlorine dioxide, a very strong chemical oxidizer and bleaching agent. CLO2 is the active molecule in many water purification systems. It does kill germs, but it is toxic. If you ingest it in the concentrations recommended, it can cause you direct harm.CLO2 is a toxic chemical oxidizer
More @

Tuesday, April 3, 2012

Certain Children w/ Autism Show More Improvement Than Others

Certain Children With Autism Show More Improvement Than Others - Yahoo! News

MONDAY, April 2 (HealthDay News) -- About 10 percent of children with autism experience rapid gains in skills -- progressing from severely affected to high functioning -- but minority children with less-educated mothers are much less likely than richer white kids to fall into this group, a new study suggests. 
Analyzing nearly 7,000 California children with autism, researchers from Columbia University in New York City also found that these kids typically display six typical patterns of social, communication and repetitive behaviors and that those whose symptoms were least severe at diagnosis tend to improve more quickly than others. 
"These children follow really different pathways over time, changing at very different paces and according to very different patterns," said study author Christine Fountain, a postdoctoral researcher at Columbia's Institute for Social and Economic Research and Policy. "Most children do get better, at least a little bit. But we found it somewhat surprising that about 10 percent improve really rapidly and to a great extent."

Friday, March 23, 2012

Autism May Begin at Very Early Phases of Brain Development | Blog | Autism Speaks

Autism May Begin at Very Early Phases of Brain Development | Blog | Autism Speaks

Ten years ago, my research team found evidence of brain overgrowth in many toddlers who developed autism. Just last year, we published a study showing that the larger brains of young children with autism have an excess number of brain cells, or neurons, in the part of the brain known as the frontal cortex. In the study we published today, we found clues to how this excess occurs. 
Our study found dysfunction in several gene networks that may affect the number of neurons that are generated during the second trimester of pregnancy, when about 40 billion neurons are produced in the developing brain. We also found abnormality in gene networks that affect the number of neurons that survive through the second and third trimesters. Not all early neurons are meant to survive. Some play temporary roles during brain development and are supposed to die off when their job is done. In fact, “apoptosis” or naturally occurring cell death, is a normal and important part of prenatal brain development. By way of analogy, consider the scaffolding set up when constructing a building and then taken down once the building is finished. With autism, one possibility is that some of these “scaffolding” neurons remain. This may contribute to the excess of neurons and abnormal brain wiring. 
These findings are exciting. We’ve known that something happens very, very early in the development of the brain: There are too many neurons in frontal brain regions. Now, we also know some of the genetic basis for this: abnormal gene activity in specific networks. This appears to rule out many speculations about post-natal causes of autism. Instead, it points strongly to prenatal events, at least in a majority of cases. 
Importantly, this gives us hope that, one day, research will find ways to normalize gene activity and related neural growth and function. Normally frontal brain circuits are not fully formed at birth. They develop slowly across childhood. This provides a wide window of opportunity for intervention.

Wednesday, February 22, 2012

A Mechanism To Improve Learning And Memory

A Mechanism To Improve Learning And Memory: "This process, known as synaptic plasticity, has been proposed as the cellular basis for learning and memory. Indeed, alterations in synaptic plasticity mechanisms are thought to be responsible for multiple cognitive deficits, such as autism, Alzheimer's disease and several forms of mental retardation.

The study by Knafo et al. provides new information on the molecular mechanisms of synaptic plasticity, and how this process may be manipulated to improve cognitive performance. They find that synapses can be made more plastic by using a small protein fragment (peptide) derived from a neuronal protein involved in cell-to-cell communication. This peptide (called FGL) initiates a cascade of events inside the neuron that results in the facilitation of synaptic plasticity. Specifically, the authors found that FGL triggers the insertion of new neurotransmitter receptors into synapses in a region of the brain called the hippocampus, which is known to be involved in multiple forms of learning and memory. Importantly, when this peptide was administered to rats, their ability to learn and retain spatial information was enhanced. "

'via Blog this'

Wednesday, February 1, 2012

Gene mutation in autism found to cause hyperconnectivity in brain's hearing center

Gene mutation in autism found to cause hyperconnectivity in brain's hearing center: "These effects could be blocked, however, by chemically negating the effect of PTEN loss. One of the pathways regulated by the PTEN protein involves shutting down an intracellular enzyme called mTORC1, which promotes cell growth, among other things. Zador's group found that treating the PTEN-deficient mice for 10 days with the mTORC1-inhibitor rapamycin prevented an increase in dendritic spine number and signal strength."

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