Autism Spectrum Disorders

Bennett L. Leventhal, MD

Autism and the autism spectrum disorders (ASD) seem to have captured the interest of both science and the public. This is largely because autism is a neurodevelopmental disorder that seems to disrupt the functioning of one of the most fundamental of all human characteristics, the capacity for reciprocal social interactions. This fascination began long before Professor Leo Kanner’s landmark 1943 paper gave the syndrome the name “autism” or Bruno Bettelheim wrote the popular books Love is Not Enough (1952), and The Empty Fortress (1967). Given the broad spectrum of symptoms and the many theories about the cause of ASD and treatment of autism, the study of autism has long been surrounded by controversy and confusion, often to the detriment of the individuals struggling with autism, and, of course, their families.

While the struggle over whether ASD is a psychological disorder caused by poor parenting has long since faded into the distant background, there remains considerable controversy about autism, despite a plethora of evidence strongly suggesting that autism is the result of a genetic event that either makes the individual more vulnerable or directly disrupts brain development resulting in language deficits, problems with social interactions and restrictive, repetitive behaviors. Fortunately, the past 15-20 years has seen a general consensus develop with regard to accepted constellation of symptoms that make up this complex syndrome. However, the variability in symptoms in terms of their severity sometimes makes it difficult to make the diagnosis and the margins.

Additionally, the complications associated with co-existing mental retardation in 70-80% of individuals with autism add to the challenges of identification of affected individuals. It is this very spectrum of the disorder and the complexities of diagnosis that have opened the door for broad questions about the epidemiology and etiology of autism. Similarly, the nature of the spectrum and lack of specificity about etiology has lead to additional controversy about prevalence and treatment options. This controversy is played out in the media and on internet in ways that are alarming and, at times, tragic.

Fortunately, strong scientific work has answered many questions about ASD and more answers are coming each and every day. There is certainly strong evidence that ASD is far more common than previously expected, not due to an epidemic but, rather in association with better diagnostic criteria and instruments as well as better case finding. And, the brain-based etiology of ASD is becoming clearer as genetic, neuropsychological and clinical neuroscience studies provide clearer evidence of the pathological processes in ASD. This presentation will review the history of the disorder and recent findings that offer hope for a clearer understanding and treatment of this complex, lifelong disruption in reciprocal social functioning that has profound effects on the affected children, adults, their families and communities.