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New E-Book Takes Aim at Understanding Autism

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The term “autism” comes from the Greek word “autos,” meaning self, used to describe conditions of social withdrawal—or the isolated self. Around 1910, a Swiss psychiatrist first used the term to refer to certain symptoms of schizophrenia. Later, in the 1940s, physicians Leo Kanner and Hans Asperger independently used that name to describe what was a newly discovered developmental disorder whose primary symptom was social withdrawal. Today, autism is just one of three diagnoses that the DSM-5 (Diagnostic and Statistical Manual of Mental Disorders) includes in autism spectrum disorder (ASD). While medical and neuroscience’s understanding of this condition has grown exponentially, research has been fraught with controversy. Autism appears to be on the rise, depending on how you define it; and research findings suggest that its causes are more complex than previously imagined. In Scientific American‘s newest eBook, Understanding Autism: The Search for Answers, we’ve gathered the most current information on autism—how it’s diagnosed, who’s at risk, genetic and environmental causes, treatments and therapies.

In Section 1, “Diagnosing Autism,” we take a look at the symptoms, or traits, of ASD, which include three main disabilities: lack of social skills, lack of communication skills, and repetitive behaviors. Symptoms typically don’t show up before two years of age, yet  early recognition might help alleviate some of the developmental problems that can occur later in untreated kids. In “Early Intervention,” Marissa Fessenden writes about toddlers who received speech therapy and continued to benefit years after it had stopped. Section 2, “Autistic Savants,” analyzes the phenomenon of savant syndrome, in which people with disabilities, including autism, possess extraordinary mental abilities.

Subsequent sections examine autism’s complicated genetic and environmental causes, the nature of the condition and current therapies.* Changes to diagnostic criteria for ASD in the DSM-5 have caused understandable concern and are reviewed in two important stories by Ferris Jabr, “Redefining Autism: The New DSM Criteria” and “By the Numbers: Autism Is Not a Math Problem.” Finally, in discussing available therapies, two companion pieces by Nancy Shute, “Desperate for an Autism Cure” and “Alternative Treatments: How Good Is the Evidence,” take readers on a journey through the minds of parents, many of whom are desperate to help their autistic kids lead easier, productive and more fulfilling lives. While science rushes to discover better options, this eBook gives a synopsis of the state of the field—what is known and what remains unknown about this challenging condition.

Click here to buy this and other Scientific American eBooks:

*Clarification (3/18/13): This sentence was edited after posting. It originally identified autism as an “epidemic.”

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  1. 1. rajensen088 3:25 pm 07/17/2013

    It has been stated that a genetic epidemic cannot exist.

    Persistent organic pollutants (POPs), polychlorinated biphenyls (PCBs) and polybrominated diphenylethers (PBDEs) has been found in post mortem brain tissues in samples with 15q11-q13 deletions and duplications.

    Increasing levels of PCB congeners, as measured in blood, produced increased frequency of XY and YY sperm in men recruited from a fertility clinic.

    PCB exposure has now been associated with 15q11-q13 deletions and duplications (Dup15 syndrome and Prader-Willi syndrome) and is associated with Klinefelter syndrome (47, XXY) and XYY syndrome (47, XYY) and disomy21 via sperm mutations. DUP15, Prader-Willis, Klinefelter Syndrome, Down syndrome and XXY Syndrome are rarely inherited and are all associated with increased risk for autism.

    The Chinese Benzene and Sperm Study (C-BASS) group has published several studies on sperm mutations associated with workplace exposure to benzene. Increased levels of workplace benzene exposure produced increased frequency of 1p36 deletions, XX, and XY and disomy 21 mutations in the sperm of exposed workers.

    This is an important and unrecognized area of research. There is now evidence that PCB congeners are associated with Dup15 and Prader-Willi syndrome as well as Klinefelter and XYY syndromes all of which are almost entirely de novo mutations in contrast to being inherited events. Benzene workplace exposure is associated with 1p36 deletion syndrome, Klinefelter Syndrome, XYY syndrome and Disomy 21 via environmentally induced sperm mutations.

    Benzene workplace exposure and more importantly, via burning of fossil fuels, and PCB congeners are the most ubiquitous pathogens found throughout the world but are likely only the tip of the iceberg.


    Marchetti F, Eskanazi B, Weldon RH, Guilan L, Luoping Z et al (2011). Occupational exposure to benzene and chromosomal structural aberrations in the sperm of Chinese men. Environ Health Perspect. oi:10.1289/ehp.1103921

    Marchetti et al (2010). Benzene Exposure Near the U.S. Permissible Limit Is Associated with Sperm Aneuploidy. Environ Health Perspect. 2010 June; 118(6): 833–839.

    Megan McAuliffe et al (2011). Environmental Exposure to Polychlorinated Biphenyls and p,p´-DDE and Sperm Sex-Chromosome Disomy. Environ Health Perspect. 2012 April; 120(4): 535–540.

    Mitchell MM, Woods R, Chi LH, Schmidt RJ, Pessah IN, Kostyniak PJ, & Lasalle JM (2012). Levels of select PCB and PBDE congeners in human postmortem brain reveal possible environmental involvement in 15q11-q13 duplication autism spectrum disorder. Environ Mol Mutagen2012 Oct; 53(8):589-98

    Link to this

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