Monday, January 24, 2011

Top 10 Science Achievements in Autism Research

(All information was obtained with permission from

  1. Technological advances in measuring language development. A group of researchers from the U.S. and Austria has been using an all-day recording device to make naturalistic recordings of children's vocalizations. They have been recording and analyzing syllable patterns and found that they can reliably distinguish groups of children with autism, children with language delay and typically developing children. Vocalization patterns of children with autism were characteristically different from those of typically developing children.

  1. Do you see what I see? The ability of very young children to engage others and communicate socially using non-verbal cues such as pointing, smiling, or making eye contact is critical to social and language development. Children learn to relate and communicate nonverbally long before they learn to communicate using words. Numerous studies show that children, who engage their parent or caregiver in sharing communications such as pointing to things of interest or directing another's attention to objects, learn language faster. These skills, referred to as joint attention skills, are significantly impaired in very young children with autism and therefore have been the targets of early intervention programs.

  1. Prematurity as a Risk Factor. As advances in medicine and discoveries in health sciences have lead to increased survival of infants born prior to 33 gestational weeks, there is a greater interest in understanding the later health and development of these children as they develop. This year, multiple studies reported findings of increased risk of autism in cohorts of infants born prior to 33 weeks or with very low birth weight (less than 3 lbs, 5 ounces). Researchers studied cohorts from across the globe and screened for multiple behavioral outcomes from age 4-14 years of age, including ADHD, autism, conduct disorders, phobias, cognitive delays and emotional problems. These findings expand and complement previous reports using cross sectional designs that have identified low birth weight and gestational age as risk factors for autism.

  1. New evidence for neuronal network imbalance in ASD. Our understanding of many aspects of ASD biology has come from studying single gene disorders that have a high incidence of autism, such as Fragile X, Tuberous Sclerosis and Rett Syndrome. Based on these types of studies, a current theory posits that autism is associated with over-excitation in the brain. The proper balance between excitation and inhibition in the brain is critical for normal function. Previous research has revealed that there is often too much of the excitatory neurotransmitter, glutamate, released between communicating neurons, causing over excitation in local networks.

  1. New imaging techniques shed light on autism. Despite several decades of research effort, autism remains a behaviorally-defined disorder without any biological markers. New imaging methods aim to bring us closer to the goal of a biologically-based screening test for ASD. A study from Declan Murphy, Ph.D. and colleagues used magnetic resonance (MR) structural brain imaging in combination with sophisticated machine learning methods designed to classify based on small differences in five different local measures of brain size, such as thickness of the cerebral cortex. In their study of adults with ASD and individuals with ADHD or normal development, this method was found to classify the individuals with ASD in their study with as much as 90 percent accuracy, which is impressive given that the scan only takes 15 minutes.

  1. Mitochondrial disorder more common than expected in ASD. Researchers found evidence of mitochondrial dysfunction in the enzyme chain in 8 of the 10 children with autism but none of the typically-developing children. Mitochondrial DNA mutations were also observed in the children with autism. Curious at first blush, the children with autism appeared to have more copies of mitochondrial DNA. This makes sense if each individual mitochondrion is functioning imperfectly and so more are needed to fill the energy demands of the cells. The advantage of identifying mitochondrial dysfunction is that there are ways to support better function. Through diet, exercise and in some cases, supplements, individuals with mitochondrial dysfunction can improve significantly (see the United Mitochondrial Disease Foundation for more information).

  1. New pathways for autism genetics. When the Autism Genome Project (AGP), an international autism genetics research consortium, published results from their analysis of a large sample of individuals with autism in June, the occasion attracted a lot of attention from popular media as well as the scientific community. The excitement was due to both the discovery of new genetic causes and biological mechanisms for autism and the promise that these discoveries hold for the development of new diagnostics and treatments.

  1. Researchers create neurons from skin cells of individuals with ASD. For a decade researchers have heralded the promise of stem cells as the basis of medical breakthroughs-to-come. With the discovery of new stem cell reprogramming techniques in 2006, creation of stem cells taken directly from living people finally became a reality, and scientists all over the world started the race to create stem cells from individuals with a variety of specific conditions. For autism, stem cells made their mark in October 2010 when scientists in California generated stem cells (called inducible pluripotent stem cells, or iPSCs) from skin samples of people with a condition associated with autism spectrum disorder, Rett syndrome. The stem cells offered some of the first clues to what autism may look like at a cellular level, and provide a remarkable new way to test autism treatments.

  1. A closer look at early autism symptoms that emerge in infancy. For the first time, researchers have been able to directly observe how the earliest signs of autism emerge in a prospective study of infants who were later diagnosed with autism. Before this type of study, our understanding of the early symptoms of autism relied either on parents' recollection or home videotapes. Many parents have expressed concerns about their infant well before a formal diagnosis could be made. But, it has been difficult to systematically study what symptoms show up during the infant period. This study provides us with a closer look at the first observable symptoms of early onset autism. The results suggest that it should be possible to detect autism symptoms before one year of age, at least for children with early onset autism. Screening tools should focus on the social communication skills that infants display between 6-12 months, such as looking, vocalizing, and smiling at others. Dr. Ozonoff noted that it might be necessary to screen infants several times because the loss of skills can be very gradual. By paying attention to these early social communication skills during a well-baby check-up, pediatricians may someday be able to refer infants at risk for autism for interventions that can help promote the development of these skills. Autism Speaks is currently funding several clinical trials aimed at developing interventions that can be used with infants and toddlers with autism.

  1. Gastrointestinal concerns addressed with new clinical guidelines. Gastrointestinal (GI) problems are a commonly expressed concern of parents of children with ASD, but there remains a significant need for clinical guidance and research in this area. In January 2010, a consensus statement and recommendations for the evaluation, diagnosis, and treatment of GI disorders in children with ASD were published in Pediatrics. These recommendations are an important step in advancing physician awareness of the unique challenges in the medical management of children with autism and will be another step towards the development of evidence-based guidelines that will standardize care for all children with ASD. The reports highlighted the crucial need for information to guide care, and emphasized the importance of fostering more research in this area to support the development of these guidelines.

A link to resources in your area.

I myself have been fortunate in this struggle has never entered my door but I know of at least 4 families who deal with it every day as I am sure we all know some one.

Share this information with them. It is good to know that research is making progress.

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1 comment:

  1. This is a great article Mary Ann. I appreciate the information. I will come back to to this one.