Autism

Let’s say, for purposes of illustration, that I am a primary care practitioner seeing a three year old boy for the first time. He evidently has been seen elsewhere for colds and minor illnesses but I do not have access to his well baby check-ups, if he has had them at all. I notice that the child stands away from his mother, and does not make eye contact with either of us. He is absolutely silent and seems fixated on the knob on the exam table. He is oblivious to his older brother is also in the room. He has no verbal interaction with his mother or his brother. His mother says that he was saying a few words, but he gradually spoke less and less until he says no words now. As he studies the exam table knob, he has regular flapping motions with his hands, and occasional jerking movements of his head. My assessment is that he has delays in social interaction, social use of language, and a lack of imagination or symbolic play. I am very concerned about the diagnosis of autism, and decide to refer him to a specialty group with expertise in this developmental disorder.
Autism is the object of much interest in the media today. One reason is that the incidence of diagnosis is increasing on annual basis over the past ten years. It is not clear if the diagnosis is increasing or whether there is some particular other situation or problem driving this increase. We do know the numbers are 11 to 17 children per 1,000, and that four times as many boys have it as girls. There is a statistical increase in the numbers of autistic children born to fathers over 40 years old. We know that there is an increase in seizures and gastrointestinal problems in children with autism. Researchers have found an abnormality on the X chromosome which seems to correlate with autism. Other contemporary researchers have described particular findings of the placenta which seems to be a marker for autism at birth. Several years ago, a British physician did a very small study in which he claimed to show that the Measles-Mumps-Rubella (MMR) vaccine caused autism. This theory has been totally discredited, and the physician is currently facing censure by his medical society. Likewise, the theory that thimerosol, a minute mercury antibacterial ingredient in vaccines (not used since 2002), was somehow a cause, has been disproven. There many scientists investigating whether environmental agents such as insecticides or air pollution are involved, but the major evidence is leading toward a genetic condition. One scientist put it this way: “Autism begins the moment the sperm hits the egg!” That doesn’t seem too implausible: the incidence of autism in a family which otherwise has another autistic child is 25 times greater than the general population.
Autism is called a “spectrum disorder”, and by this it is meant that its manifestations can range from relatively mild to very severe. One scientist put it this way: “Once you’ve met one person with autism, you’ve met one person with autism.” One of the milder forms of autism spectrum is Asperger’s Syndrome. All the criteria mentioned for the diagnosis of Autism Spectrum Disorder are met, but the person can have relatively high levels of functioning, even the so-called “savant” cases. Dustin Hoffman played an individual with Asperger's in “Rain Man”, and included a marvelous detailed performance. He had a gift for counting and made a fortune at the Las Vegas Blackjack tables, but was incapable of conversation or social interaction other than repeating rituals, speaking in a robotic voice, and either copying phrases of what was said to him or repeating memorized television dialogue. He told the same joke over and over at inappropriate times, particularly when he was nervous or threatened, and had motor mannerisms with his hands.
This brings us to one other characteristic of Autism Spectrum Disorders, that is, they are not “curable.” They persist for life, and do not necessarily affect longevity, unless judgment problems lead to unfortunate accidents. The symptoms may become somewhat muted in adult life, except the negative symptoms, like not speaking, may persist, and a certain percentage with a lot of negative symptoms may end up needing placement in an institution. The thing that seems to help the most is intense behavioral and language training at least by the age of three. There are numerous educational and psychological techniques which are applied in a customized fashion for the particular presentation of Autism Spectrum Disorder. The other technique is maximally involving the parents as persons for attachment, trust and communication for the autistic child. The parents are likewise encouraged to join support groups of parents of Autistic children. There are numerous organizations and websites which provide the latest in research and parental adaptation to the problems of autism. There are alternative treatments out there for autism. One is the injection of stem cells which is supposed to change some of the neurodevelopment condition. There are advocates of dietary treatment like eliminating gluten (wheat, oats, etc.) and casein (dairy products). Some physicians advocate chelating therapy to remove so-called toxins from the bloodstream and tissues. None of these have the scientific substantiation to warrant a medical recommendation.
Autistic individuals can have other problems. One is sadly reminded of John Travolta autistic child who died of seizure disorder. There can be psychiatric problems like depression and psychosis which need to be treated. Then there are the things that ordinary people have, like obesity, hypertension, diabetes and heart disease, which have to be treated as they would in the general population.
We all need to learn as much as we can about Autism, as chances are we will encounter an Autistic child at some point or another. It may be our own child, a niece or nephew, a child next door or at the school in a special needs class. We need to know that the condition is a neurological disorder, not the result of bad or inadequate parenting. In this way we can react with the understanding and compassion that is needed and warranted.

John Drew Laurusonis

Doctors Medical Center

www.doctorsmedicalctr.com