FOR IMMEDIATE RELEASE
Contact: Lori Bassett, 864-388-1061, firstname.lastname@example.org
Greenwood Genetic Center Researchers Report Autism Discovery
Advancement paves way for early blood test and therapeutic options
Greenwood, SC (June 5, 2013) - Researchers at the JC Self Research Institute of the Greenwood Genetic Center (GGC), along with collaborators from Biolog, Inc. in California, have reported an important discovery in the understanding of autism which was published this week in Molecular Autism.
The study, led by GGC’s Director of Research, Charles Schwartz, PhD and Staff Scientist, Luigi Boccuto, MD, found that individuals with autism spectrum disorders (ASDs) showed significantly decreased metabolism of the amino acid L-tryptophan when compared to both typical controls and individuals with other neurodevelopmental disorders. Cells from individuals with autism metabolized L-tryptophan at a decreased rate whereas cells from individuals without autism did not show this change.
Researchers also measured the expression of genes that are known to be involved in L-tryptophan metabolism in a small subset of patients with autism and found they also expressed some of the genes at lower levels than those without autism.
“The important and immediate implication of this work is the development of a simple, early blood screening test for autism by measuring the metabolism of L-tryptophan using Biolog’s technology,” shared Dr. Boccuto. Biolog’s assay method, called Phenotype MicroArray technology, allows researchers to measure the ability of cells to generate energy from various biochemical nutrients, including L-tryptophan.
Currently there are no laboratory tests that can accurately diagnose ASDs, which are estimated to affect 1 in 50 school-aged children in the US. Current diagnosis depends upon a developmental evaluation and parent interviews and can often not be made prior to 2-3 years of age. “A screening, and eventually, a diagnostic blood test for autism would be of immense value to families,” explained Dr. Schwartz. “An early, accurate diagnosis is key to providing effective and timely therapies for these patients and their families.”
Dr. Boccuto added, “We also see tremendous potential that these findings will aid in our understanding of the molecular and metabolic bases of autism. Once we have a clear vision of what has gone awry within the tryptophan metabolism pathways, we can develop therapies to target and correct those problems at the biochemical level.”
L-tryptophan is one of twenty amino acids used by cells to make protein. It is one of eight amino acids that cannot be made by the body, so it must be obtained from the diet. More importantly, L-tryptophan plays an important role in brain development and function as it is the precursor of key neurochemicals such as serotonin and melatonin which have already been linked to behavioral and neurodevelopmental problems.
“This discovery leads us toward a possible unifying biochemical mechanism for ASDs which could ultimately lead to a treatment,” shared Dr. Schwartz. “Now that we have additional evidence that the features of ASDs may be related to the metabolic pathways involving L-tryptophan, we can focus further studies on determining at what point along those pathways the disruption occurs, which may vary from one patient to another. With treatments that target various points along the pathway, a modality that works for one patient may not work for another.”
GGC’s autism research has been supported by funds from the South Carolina Department of Disabilities and Special Needs. Additional funding has been obtained from the National Institutes of Health to explore transitioning the research finding into a simple blood test for autism. Drs. Schwartz and Boccuto are currently evaluating the tryptophan metabolism in fresh blood samples from patients with ASDs and controls, utilizing customized Biolog plates.
“We are thrilled that Biolog’s technology helped Dr. Schwartz in his pioneering research and that it has led to this breakthrough discovery,” said Barry Bochner, PhD, CEO at Biolog, Inc.
About Greenwood Genetic Center
The Greenwood Genetic Center (GGC), founded in 1974, is a nonprofit organization advancing the field of medical genetics and caring for families impacted by genetic disease and birth defects. At its home campus in Greenwood, South Carolina, a talented team of physicians and scientists provides clinical genetic services, diagnostic laboratory testing, educational programs and resources, and research in the field of medical genetics. GGC’s faculty and staff are committed to the goal of developing preventive and curative therapies for the individuals and families they serve. GGC extends its reach as a resource to all residents of South Carolina with satellite offices in Charleston, Columbia, Florence and Greenville. For more information about GGC please visit www.ggc.org.
About Biolog, Inc.
Biolog is a privately-held company based in Hayward, CA, that continues to lead in the development of powerful new cell analysis tools for solving critical problems in biological, pharmaceutical, and biotechnological research and development. It is the world leader in phenotypic cell profiling. Biolog’s advanced phenotypic analysis technology is unique in its broad applicability to cells – this includes bacterial cells and fungal cells as well as animal cells. More than 260 scientific publications and presentations document the effectiveness and productivity of PM technology. The PM product line adds to the innovative microbial identification products offered by the company, such as the new GEN III System. Biolog products are available worldwide, either directly from the company or through its extensive network of international distributors. Further information can be obtained at Biolog's website, www.biolog.com.
May 15, 2013
For immediate release. For additional information, please contact:
Kim Thomas, Interim Director, 803-750-6988, Kim@scautism.org
South Carolina Autism Society Statement on DSM-5 Changes
The American Psychiatric Association (APA) will release the new Diagnostic and Statistical Manual of Mental Disorders (DSM-5) this weekend at their annual conference. The DSM-5 will include significant changes to the criteria for Autism Spectrum Disorders (ASDs).
According to the APA, “The revised diagnosis represents a new, more accurate, and medically and scientifically useful way of diagnosing individuals with autism-related disorders.” While the DSM-IV included separated diagnoses for Asperger’s, Childhood Disintegrative Disorder, Autistic Disorder, and Pervasive Developmental Disorder – Not Otherwise Specified (PDD-NOS), the DSM-5 eliminates the separate diagnoses.
The APA expects that, “Anyone diagnosed with one of the four pervasive developmental disorders (PDD) from DSM-IV should still meet the criteria for ASD in DSM-5 or another, more accurate DSM-5 diagnosis.”
The South Carolina Autism Society has been in communication with both state and national professionals regarding the DSM-5. We are working with DDSN, MUSC, USC, and GHS to assess how these changes may affect individuals affected by autism. It is expected that those qualifying for DDSN services under the DSM-IV will continue to qualify under DSM-5. We anticipate no disruption in services.
We urge every government agency and service provider to at a minimum maintain current levels of service, and not reduce or eliminate services to any individual currently getting services due to the DSM-5 changes. If you or a family member are denied services, or experience a reduction in services as a result of the DSM-5, please contact us at 803-750-6988 or 800-438-4790.
It will take some time for medical professionals, and others qualified to diagnose ASDs, to fully incorporate the new DSM-5 criteria. As such, the full impact of the DSM-5 may not be known for some time.
Rest assured that the South Carolina Autism Society will continue to stay on top of this situation, and provide updates as appropriate. We will continue to advocate on behalf of families affected by autism, to ensure that all individuals with Autism Spectrum Disorders can reach their maximum potential.
To view the APAs fact sheet on Autism Spectrum Disorder under the DSM-5, visit http://www.psych.org/File%20Library/Practice/DSM/DSM-5/DSM-5-Autism-Spectrum-Disorder-Fact-Sheet.pdf.
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Join WACH Fox for the American Idol Finale on Thursday, May 16.
We would love your feedback on Strides for Autism.
Please complete the survey located at http://www.surveymonkey.com/s/SWMQNWH. Thank you!!
Harbison Theatre at Midlands Technical College Produces Sensory-Friendly Performance of ‘Story Squad’ May 19
South Carolina is used to rivalries going on between the Upstate and Midlands regions. So let’s join in the action at Strides for Autism and settle the rivalry once and for all!
Register now at https://scautism.org/strides/
Here are a few fundraisers to benefit the South Carolina Autism Society. Please support them as you are able!
Apple Pie Fundraiser, to benefit Team Co-Jo in Strides for Autism
Fried apple pies and other baked goods for sale. Pies will be 1.00 and there will be bagged items for 1.oo a bag.
Old Hundred Grocery & Grill, 599 Old Hundred Road, Pelzer, SC.
Purchase items from Initials, inc. during the month of April, and Melony Davis will donate 50% of the proceeds to the South Carolina Autism Society! Visit www.myinitials-inc.com/melonydavis to shop online!
April 2, 2013
For immediate release. For additional information, please contact:
Kim Thomas, Interim Director, 803-750-6988
Susan Leiby, Communications & Events, 864-346-4180
South Carolina Autism Society Recognizes World Autism Awareness Day
April 2 Worldwide Event Declared by United Nations
The South Carolina Autism Society would like to encourage the community to recognize World Autism Awareness Day on Tuesday, April 2nd.
The United Nations General Assembly unanimously declared 2 April as World Autism Awareness Day, “to highlight the need to help improve the lives of children and adults who suffer from the disorder so they can lead full and meaningful lives”. UN Secretary-General Bon Ki-moon states, "This international attention is essential to address stigma, lack of awareness and inadequate support structures. Now is the time to work for a more inclusive society, highlight the talents of affected people and ensure opportunities for them to realize their potential. "
We at the South Carolina Autism Society believe that individuals and families affected by autism deserve to be acknowledged as valuable members of their communities. We strive to ensure that services are available that enable those with autism to reach their maximum potential, and use their skills and talents to contribute to society. We believe that individuals with autism spectrum disorders should have the opportunity to be fully included in their local community.
Autism is a complex developmental disability that typically appears during the first three years of life. It has no known cause or cure. Autism interferes with the development of the brain in reasoning, social interaction and communication skills. People with autism typically have deficiencies in verbal and non-verbal communication, social interactions and leisure or play activities.
It is estimated that 1 in 88 individuals have an autism spectrum disorder. It is four to five times more common in males, and occurs in all social and ethnic groups. Family income, lifestyle and education do not affect the chance of occurrence.
To learn more about autism, please visit www.scautism.org.
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The South Carolina Autism Society is proud to be a partner organization for “Rethinking Autism”, a statewide Autism conference sponsored by the South Carolina Developmental Disabilities Council and Youth Advocate Programs, Inc. on April 24th at the Crowne Plaza in Greenville, South Carolina. Appropriate for everyone from self-advocates to professionals to caring community members, “Rethinking Autism” will showcase new and positive ways of living and working with autism and appreciating neuro-diversity. The conference seeks to open the doors of self–determination to persons with autism through presenting practical suggestions on how to develop effective and respectful accommodations and supports in the community, school and workplace.
Keynote Speaker Nick Pentzell is a college student and nationally acclaimed self-advocate. He is an accomplished author and has shared his views about living with autism in his award winning video "Outside/Inside.” His speech will also be available as a live webcast for those who can’t attend in person.
The morning plenary “New Visions, New Possibilities” will emphasize the nature of sensory and movement differences, and the ways in which awareness of those differences can help us replace negative assumptions with a recognition of each person’s intellect, sociability and communicative capacity. Plenary Speaker Pat Amos is founder and past president of the Autism National Committee and has been an advocate for people with autism and their families across the nation for over 25 years.
The Conference has been approved for various professional continuing education credits including social work and psychology by self-submission.
For more information and registration, click here.
March 20, 2013
For immediate release. For additional information, please contact:
SC AUTISM SOCIETY STATEMENT ON NCHS REPORT ON AUTISM PREVALENCE
Today the National Center for Health Statistics released their report, “Prevalence of Parent-reported Autism Spectrum Disorder in School-aged U.S. Children”. Their latest study is based on 2011–2012 data, collected from a random-digit-dial telephone survey of households with children aged 0–17 years in the United States. Both landlines and cellphone numbers were part of the study. Almost 96,000 surveys were completed, and the overall response rate was 23%. Parents were asked if they had ever been told that their child had an Autism Spectrum Disorder.
The report states, “Based on parent reports, the prevalence of diagnosed ASD in 2011–2012 was estimated to be 2.00% for children aged 6–17. This prevalence estimate (1 in 50) is significantly higher than the estimate (1.16%, or 1 in 86) for children in that age group in 2007.” It also indicated that those diagnosed since 2008 were more likely to have “mild ASD and less likely to have severe ASD”.
It is important to note that this study is based solely on parent reporting. No medical or educational records were reviewed, so the results cannot be clinically substantiated.
However, the results are consistent with the increase in ASD prevalence shown through other recent studies through the Centers for Disease Control (CDC). These studies have indicated an increase in ASD prevalence from 1 in 150 in 2002 to 1 in 88 in 2008. The results further support the need for additional services for individuals and families affected by ASDs, from early identification through adulthood.
We eagerly await the next round of CDC statistics based on 2010 data. The Autism and Developmental Disabilities Monitoring Network (ADDM) is presently reviewing clinical and educational records in 12 communities across the United States, including in South Carolina.
To read the complete NCHS report, please visit http://www.cdc.gov/nchs/data/nhsr/nhsr065.pdf.
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