Autism Susceptibility Genes Identified

Two genes have been associated with autistic spectrum disorders (ASD) in a new study of 661 families. Researchers writing in BioMed Central's newly launched journal Molecular Autism found that variations in the genes for two brain proteins, LRRN3 and LRRTM3, were significantly associated with susceptibility to ASD.

Anthony Monaco from the Wellcome Trust Centre for Human Genetics, University of Oxford, UK, worked with an international team of researchers to study four candidate genes in families from the UK, the Netherlands, Italy and Germany. He said, "To our knowledge, this is one of the most comprehensive genetic analyses of association between these important genes in brain connections and ASD risk". The proteins encoded by these two genes have been implicated in brain development, which is often impaired in autistic individuals. In particular, LRRN3 is thought to play a role in the development and maintenance of the nervous system, while LRRTM3 is part of a family of proteins thought to organize synaptic connections.

According to Monaco, " A focused candidate gene study was carried out using association approaches to identify common variants in the UK cohort and in additional European populations. This study covered four brain-enriched leucine-rich repeat candidates and taken together, there is converging evidence that common genetic variants in LRRTM3 and LRRN3 confer susceptibility to ASD. Future studies of these genes and their function will provide valuable insights into their role in ASD pathogenesis".

Source: BioMed Central Limited

Infants Recognize Voices, Emotions By 7 Months

by Jon Hamilton
NPR, All Things Considered

A new study suggests that our brains develop specialized circuits to process human voices long before we learn to speak.

The study, which appears in the journal Neuron, looked at brain activity in 32 infants as they listened to recorded sounds. Half the children were 4 months old and the other half were 7 months old.

Some of the sounds they heard were nonhuman sounds, like chickens clucking, a bell ringing or a cuckoo clock. The rest were clearly human utterances including some words, though not in any language the children would have heard before.

While the children listened, researchers from Germany and the U.K. measured activity in certain areas within a part of the brain called the superior temporal cortex, which is just above the ear. Other studies have shown that these areas are where voices are processed in adults.

Children Respond To Emotional Meaning

In 4-month-old infants, these areas did not differentiate between human voices and nonhuman sounds, says Tobias Grossman from the Centre for Brain and Cognitive Development at the University of London and the Max Planck Institute for Human Cognitive and Brain Sciences.

But it was a different story in the 7-month-old infants, Grossman says. The brain responses showed that "they process human voice distinctly from other kinds of sounds," he says.

The researchers wanted to know whether the older children's brains would also respond to the emotional meaning that's often conveyed through vocal intonation.

So they played unfamiliar words spoken with happy, unhappy and neutral intonations, and once again, certain areas of the brain seemed to know the difference.

The findings provide strong evidence that specialized voice processing in the brain develops sometime between the fourth and seventh month of life, Grossman says.

A New Technology To Measure Infants' Brain Activity

This discovery might have been made years ago if small children didn't wiggle around so much in the MRI scanners that are usually used to measure brain activity, Grossman says. But he says they do and even small head motions make good measurements impossible.

Grossman and his team used a newer technology called near-infrared spectroscopy. It measures brain activity using beams of light that come from a special helmet, he says, so infants can stay in a parent's lap during an experiment.

It's not surprising that kids' brains become attuned to human voices so early, says Rhea Paul, a speech language pathologist at the Yale Child Study Center.

She says behavioral studies have made it clear that something is happening in the brain. Even very young children seem to recognize their mother's voice and respond to happy sounds, she says. By the time most children reach their first birthday, they have learned to understand words and started using them.

But for kids with autism and other developmental disorders, that may not happen on schedule, Paul says, and studies like Grossman's may help explain why.

Early Warning Signs For Developmental Problems

"One thing we know about children with autism is that they are almost universally delayed in their development of language," Paul says.

Problems with the brain systems that recognize and process human voices could offer an early warning of language difficulties.

Paul says the brain areas that respond to intonation may be especially important to watch because children with autism often lack this ability.

She says her lab found that toddlers with typical brains paid attention to which syllable in a word was being stressed and to the rhythm of sentences. "Children with autism, on the other hand, paid attention to neither of those things."

But Paul says that experiment was with children who were at least a year old. She says it's not yet clear whether there are differences in younger children.

CoMeD Files Evidence of Miscarriage after Thimerosal-containing Flu Shots

SILVER SPRING, MD 20905-5726

CoMeD Files Evidence of Miscarriage after Thimerosal-containing Flu Shots

For Immediate Release
Media Contacts:
CoMeD President [Rev. Lisa K. Sykes (Richmond, VA)


CoMeD Science Advisor [Dr. Paul G. King (Lake Hiawatha, NJ)

Washington, DC - In its pursuit of banning all use of mercury in medicine, unless proven safe by appropriate toxicity studies, today CoMeD, Inc., a non-profit corporation, filed declarations from pregnant women harmed by Thimerosal-containing influenza shots in the US District Court for the District of Columbia (case: 1:2009cv-00015). These declarations report that health care providers seemed to be largely unaware of the continuing presence of mercury in vaccines and that these providers often failed to accurately disclose the known risks to the patient from these Thimerosal-containing vaccines, which are specifically recommended for pregnant women and children.

Thimerosal, used as a preservative in vaccines without the required proofs of safety, is half mercury by weight and a known bioaccumulative human poison, neurotoxin, carcinogen, mutagen, teratogen and immune-system disruptor. In order not to exceed the EPA's safe daily reference dose (RfD) for mercury ingestion from the mercury contained in one 0.5-mL Thimerosal-preserved flu shot, a pregnant woman or child would have to weigh more than 550 pounds. Worse, the Material Safety Data sheets for Thimerosal list: fetal death, miscarriage, mental retardation and gross motor impairment as possible outcomes of in utero exposure to Thimerosal.

CoMeD, Inc. originally sought injunctive relief regarding the use of Thimerosal-preserved flu shots for pregnant women in August 2009. In oral arguments, CoMeD's attorneys detailed the danger posed by Thimerosal and the denial of informed consent accompanying its administration in most cases.

CoMeD's attorneys also argued that federal regulations mandating that "any preservative used shall be sufficiently nontoxic so that the amount . will not be toxic to the recipient" [21 CFR § 610.15(a)] have been illegally ignored in the case of Thimerosal. To establish that Thimerosal used as a preservative is "sufficiently nontoxic.", toxicity studies must prove its safety. Yet, as the US Food and Drug Administration and the drug manufacturers have repeatedly admitted, they have not conducted the toxicity studies required to prove the Thimerosal in a single vaccine dose is "sufficiently nontoxic .".

Half a year after CoMeD filed a request for a preliminary injunction, which has not yet been granted, to stop the administration of mercury-preserved flu shots to pregnant women, CoMeD members now seek to establish with this filing, that damage they predicted to unborn children sadly has occurred. Declarations filed today detail fetal deaths, miscarriages, stillbirths and premature births following the administration of Thimerosal-preserved/containing flu shots. In addition to personal declarations, CoMeD has filed copies of records from the Vaccine Adverse Event Reporting System, maintained by the US Centers for Disease Control and Prevention, documenting reports of more than one hundred fetal deaths, miscarriages, stillbirths, and premature births attributed to flu shots in the period from September through December of 2009 alone, as well as an additional sixty-plus personal accounts of similar flu-shot-related harm.

With safer alternatives to Thimerosal and the proven ability to make vaccines without any preservative, the use of Thimerosal or any other mercury compound in vaccines without the toxicological proofs of safety required by drug law is both indefensible and illegal, according to CoMeD.

Latest News in Healthcare and Behavioral Health Treatments

This week, in a historic vote, the House of Representatives passed the Senate version of the health-care reform bill. This is exciting news for the Autism Society and families affected by autism. The new law will be a great step towards ensuring that all people with autism have access to health-care. It will require coverage for habilitative care as well as behavioral health treatments.
To learn more about how this bill
impacts families with autism, please
click here.

Jeff Sell
Vice President, Public Policy
Autism Society

Early Intervention Helps Make a Difference

The early years of a child’s life are very important.

The Early Intervention Program is a statewide program that provides many different types of early intervention services to infants and toddlers (ages 0-3) who have or are suspected of having a developmental delay and/or disability. In New York State, the Department of Health is the lead state agency responsible for the Early Intervention Program.

The Early Intervention Program (EIP) is a public program for infants and toddlers with special needs. Children with diagnosed conditions that lead to developmental delays (such as Down Syndrome, Cerebral Palsy, Autism, etc.) are eligible for the EIP. Children with no diagnosis who have delays in development may be eligible for the EIP services. Eligibility can only be established by state approved agencies with an active contract with County or Municipality. If a child is found eligible, all needed EI services are identified in collaboration with the parent and approved by County or Municipality.

Early Intervention Services authorized by your County are provided at no cost to you. County or Municipality will arrange for service providers to deliver authorized services. Your child’s health insurance may be used to cover some of the costs. All other costs for EIP services are paid for by your county and New York State.

For Early Intervention services delivered in child care settings or community locations that require a fee, the parent is responsible for paying any costs associated with such settings or locations.
C.A.R.D. is approved by New York State Dept. of Health and currently contracts with Monroe and Westchester County to provide Special Education services.

If you have concerns about your child’s development, call the Early Intervention Program in your County.

For the phone number of your county’s program, call:
New York State “Growing Up Healthy” 24-hour Hotline at 1-(800)522-5006

Monroe County Early Intervention Program (585) 753-5437

Westchester County Early Intervention Program (914) 813-5094

Bureau of Early Intervention Division of Family Health New York State Department of Health
Corning Tower, Room 287 Albany, New York 12237-0660 518-473-7016 518-486-1090 (FAX)

To learn more about the Early Intervention Program, visit:

Message from a CARD Mom...

It's that birthday time of year again, we put Steven in that Philly/Johnny Callahan jersey and take his picture-to see how he changes over time.
The first picture is from when he was three, right after he was diagnosed. It took both of us to hang onto him, or he would elope into the street!

Tantrums were the norm, and forget about talking. It felt to me like back then there was no hope-and no way out of autism. Those were some hard days!

Today, the second picture says it all. Seven years old, and talking in sentences! He's a happy young man with a few close friends and he gets good grades at school.

Thanks everybody for helping Steven get where he is today. I get so emotional when I think about how far he has come. I try not to think about where he'd be without you all. We want to be sure every CARD team member knows that every day counts. Every session counts, each clinic counts. Doing everything we could did everything for him.

Thank you so much for being part of the journey with us-we appreciate every one of you!

With gratitude every year,
Lee and Char
Steven's parents

The Effectiveness of Early Intensive Behavioral Intervention Programs

By: Marlena N. Smith, B.A.

In a recent study, Makrygianni and Reed found early intensive behavioral intervention (EIBI) programs to be very effective in treating autism spectrum disorders (ASD). While many unproven treatments for ASD exist, EIBI is among the most well-known and thoroughly researched interventions. Makrygianni and Reed set out to investigate the success of EIBI programs: a topic that is important for parents of children with ASD, as well as program planners and funding organizations.

The authors performed a meta-analysis to evaluate the effectiveness of EIBI programs. A meta-analysis is a statistical research tool that combines the results of multiple studies and examines similarities between the studies’ features and their outcomes. The studies were analyzed in two ways. First, the participants’ pre-treatment and post-treatment performances were evaluated. Second, EIBI outcomes were compared to other ASD treatment outcomes.

The authors found that EIBI programs greatly improved intellectual and language abilities in children with ASD, and moderately improved adaptive behavior abilities. Furthermore, the authors found that EIBI programs were more effective than other ASD treatment programs.

While EIBI programs were found to be effective, levels of success differed across the studies. For that reason, the authors evaluated factors that may contribute to a program’s effectiveness. The following factors were identified:

  • Increased program intensity
  • Longer program duration
  • Parent training in EIBI methods
  • Younger age at intake
  • Greater adaptive behavior abilities at intake

Continued efforts to explore the effectiveness of EIBI programs are very important. These findings help parents make educated decisions when selecting a treatment program. Furthermore, this information is useful for program planners designing treatment plans and organizations funding these services.


Makrygianni, M. K., & Reed, P. (in press). A meta-analytic review of the effectiveness of behavioural early intervention programs for children with autistic spectrum disorders. Research in Autism Spectrum Disorders. doi:10.1016/j.rasd.2010.01.014

New Genetic Autism Test Beats Older Tests

A new genetic test for autism, known as chromosomal microarray analysis (CMA), finds more genetic abnormalities than two older tests, a study shows.

''CMA is much better than karyotyping or fragile X testing at detection -- it's at least three times better," Bai-Lin Wu, PhD, medical director of the genetics diagnostic laboratory at Children's Hospital, Boston, and a study co-researcher, tells WebMD.

While the other two tests are now standard practice, Wu and his colleagues say the new test should also be part of the initial diagnostic evaluation of patients when a clinical diagnosis of autism or autism spectrum disorder has been made or is suspected.

The study results are published online in Pediatrics.

Autism, a complex disorder, involves impairments in social interaction as well as deficits in language and communication along with rigid and repetitive behaviors. It affects about one person per 1,000, the researchers write; autism spectrum disorder (ASD) affects six per 1,000.

Comparing CMA With Other Tests

The researchers compared the results of the three tests in more than 800 patients. Among the findings:

  • The standard genetic test known as G-banded karyotype testing found abnormal results in 19 of 852 patients, or about 2%.
  • The fragile X testing found abnormalities in four of 861patients, or about 0.5%. (Fragile X syndrome is a condition associated with autism.)
  • The CMA test found abnormalities in 154 of 848 patients, or about 18%; 59 of these, or about 7%, were associated with possible or known genetic disorders.

''Karyotype testing is looking for changes visible by the microscope," Wu, a clinical molecular geneticist, tells WebMD. "CMA is looking at the molecular level."

Wu and co-researcher Yiping Shen, PhD, assistant director of the genetics diagnostic laboratory, compare karyotype testing to a map that can detect a highway that's missing in a state, and CMA testing to a map that can detect individual highway exits that are missing.

In the study, Shen and his colleagues say that CMA ''should be considered as part of the initial diagnostic evaluation of patients with ASD."

CMA an 'Excellent' Test

The new study confirms smaller studies finding that CMA is an excellent test, says Randi Hagerman, MD, medical director of the MIND Institute at University of California, Davis, and an autism expert.

''This [new study] demonstrated that the CMA picked up abnormalities at a much higher rate [than other tests]," says Hagerman, who reviewed the findings for WebMD.

The patients studied, she says, were a relatively high functioning group of people with ASD. That population, she says, ''reflects more closely what clinicians are seeing now in their office." She says the rate of intellectual disabilities of those with autism and ASD has gone down in recent years.

The bottom line of the study? "You should do genetic testing on everyone with autism or ASD," Hagerman says. "That's been the recommendation for years." With the new study findings, she says, the message is clear that "you should include CMA."

Doing all three tests would be ideal, she says. But if you can only do two, she would pick fragile X and CMA. If someone has autism or ASD, she says, the CMA test "is the No. 1 test to yield an abnormal result."