This article will attempt to provide informed parents with basic information about autism, or the “autism spectrum disorders”.

 
Hopefully, it will also pave the way for a future article regarding appropriate psychological/medical interventions for those children who are diagnosed as having an autistic spectrum (also called “pervasive developmental”) disorder.

 

CASE SCENARIO #1:

 

Mr. and Mrs. Jones contacted me at the referral of a local mental health clinic, where their 4-year-old daughter, Melissa, had recently been diagnosed as having autism. Mr. and Mrs. Jones recalled that although Melissa had seemed “normal” at birth, she was their firstborn child, and they had little basis for comparison. They became concerned, however, when Melissa said one or two words around age one, but then abruptly discontinued speaking. Instead, Melissa produced a low-pitched, “mewling” sound, often for long periods of time. She failed to play with toys, but exhibited fascination with certain small objects, e.g. the nails and screws in her father’s tool chest. At times, she whirled in circles, without apparent dizziness, for what seemed an eternity to her parents. At other times, and with little apparent, provocation, she banged her head against her closet or bedroom door. She exhibited little interest in the world about her.

 

The diagnosis of autism, within the severe-to-profound range, was confirmed upon observation and history. Mr. and Mrs. Jones were soon to become immersed in the world of speech and language assessments, “I.E.P.’s” (Individualized Education Programs), the Regional Center, and the pros and cons of “discrete trial learning”.

 

CASE SCENARIO #2:

 

Mr. and Mrs. Johnson contacted me at the referral of their children’s pediatrician. They were concerned, specifically, about their youngest child, Michael, three years old. They noted that, particularly in comparison to his older, eight-year-old twin brothers, Michael’s interactions with others seemed limited. They noted, for example, that although Michael was a highly productive talker, he seemed to lack the ability to listen or attend to what another person was saying. At times, he produced a near verbatim rendition of conversations uttered during his favorite movies, but seemed to have little awareness that his discussion was one-sided. In addition, his eye contact was fleeting at best. His parents stated, as well, their Michael seemed to exhibit little interest in interacting with his siblings or peers. Although he sometimes followed his older brothers around the house, yard and neighborhood, he always seemed content to play in a parallel fashion–i.e. he was in the presence of his brothers and/or their friends, but he was “playing his own game”. His brothers and their friends were often overheard saying, “Oh, that’s Michael. That’s just how he IS”.

 
As he aged, Michael’s problems didn’t get better, as his parents had hoped. He read well, but lacked the focus required of second graders. Finally, when he was seven years old, his parents consulted a child psychiatrist. They learned that although their son was bright, he had a mild form of autism known as Asperger’s Syndrome. They were highly concerned, but gratified to learn that children with Asperger’s often respond favorably to therapy.

 

These two extremes illustrate, at least to some degree, the many ways in which a child diagnosed with an autistic or pervasive developmental disorder may present.

 

Recently, TIME MAGAZINE (5/06/2002–ref.1) published an article entitled, “The Secret of Autism”. The article noted that the number of children diagnosed with autism is exploding. In the United States alone, prevalence is estimated at 300,000. This number does not include adults, in which case the number exceeds 1,000,000 people! The “problem” of autistic or pervasive developmental disorders is, per the information contained in this article, five times as common as Down’s Syndrome, and three times as common as juvenile diabetes. The TIME MAGAZINE article sought to answer the question “why” to this apparent explosion of pervasive developmental disorders. Its publication denotes the importance of these questions to the general public, and to informed parents in particular.

 
This article will attempt to provide informed parents with the latest information available regarding the apparently genetic roots of autism, and what to look for (the major signs and symptoms). Information about living with autistic disorders–for the affected, and for their families–will appear in a follow-up article.
 

WHAT ARE THE “GENETIC ROOTS” OF AUTISM, OR AUTISTIC SPECTRUM DISORDERS?

 

During 1943, Leo Kanner, a Johns Hopkins psychiatrist, applied the term “autistic” to children who were socially withdrawn, preoccupied with routine, and who seemed to struggle with language despite intellectual gifts which ruled out a diagnosis of mental retardation. Shortly thereafter, in 1944, Asperger described a similar group of children who seemed verbal and bright, but socially inept and prone to unusual obsessions. Asperger noted that there was a striking tendency for the disorder to run in families, sometimes directly, i.e. from father-to-son. The first clues that genes might be central to the concept of autism were replete in the work of Asperger as well as Kanner.

 
Unfortunately, events, from a psychological perspective, subsequently took a turn for the worse. Specifically, Asperger’s work in Europe was overridden by more pressing concerns during the post World War II period. In addition, the “Freudian framework” became paramount in the thinking of professionals–the children who had previously been identified as having social, language and cognitive (obsessional thinking) difficulties were now deemed to be the victims of circumstance. Specifically, THE PARENTS BECAME THE FOCUS OF BLAME. The spotlight was particularly upon the mother. She was conceptualized, during the Freudian era, as cold, aloof and not nurturing–i.e. responsible for the very significant difficulties of her offspring.
 

During 1981, Lorna Wing, M.D. (ref. 2) published a paper which revived the prior interest in Asperger’s work. Dr. Wing noted that the difficulties certain children experienced, as described by Asperger, seemed little more that a variant of the autism described by Kanner. Ultimately, and in large part based upon Dr. Wing’s work, researchers now believe that Kanner and Asperger were, essentially, describing two presentations of a highly variable disorder. (Note the two scenarios provided at the beginning of this article.) Also of importance is the fact that researchers, largely as the result of Dr. Wing’s work, now describe SEVERE autism in more stark terms–i.e. as frequently characterized by mental retardation and other significant deficits.

 
Perhaps most important of all is the fact that autism once again became recognized as a genetic “difference”, and not as the fault of poor or inappropriate parenting. Scientists have now determined that autism tends to run in families. Although profoundly autistic people rarely have children themselves, close relatives are often found to be affected by some aspect of the disorder. A brother of one so diagnosed may, for example, be described as socially inept; or a sister may be described as someone who is/was obsessed with an odd, repetitive behavior. Research, per the TIME MAGAZINE article, suggests that if an identical twin has autism, the other has a better than 60% chance of full blown autistic traits.
 

It is currently believed the 3-to-20 genes may contribute to susceptibility to autism. Genes that regulate the action of powerful neurotransmitters (glutamate, serotonin and gammaaminobutric acid–GABA) seem to be particularly important.

 

Next month we will present WHAT TO LOOK FOR, AS SIGNS OF AUTISM AND ASPERGER’S