In the News: Early Autism Detection?

A study made the news this week from UC San Diego that may lead to earlier autism diagnosis in the future. In the study, researchers had pediatricians perform a 5 minute questionnaire, the Communication and Symbolic Behavior Scales Developmental Profile or CSBS-DP, to 10,500 infants. It asks parents a simple list of 24 questions such as: “When your child plays with toys, does he/she look at you to see if you are watching?”, “Does your child do things just to get you to laugh?” and, “Does your child pick up objects and give them to you?” Ou of the 10,500 children, 184 scored lower than expected and underwent further evaluation. Of those, 32 were found to have an autism spectrum disorder and 101 were found to have a language or developmental delay or other similar condition.

This study is important for a number of reasons. For one, it confirms what has been long known, which is that most children with autism show subtle signs of interaction issues with parents or caregivers even before their first birthday. For these children it is, therefore, not likely than an environmental exposure or event happening after the first birthday is the cause of their autism. So, for example, a vaccine given at fifteen or eighteen months of age could not be the cause.

The diagnosis of “autism”, also called pervasive developmental disorder, is currently given to children with a wide range of symptoms and severity. The common thread is that the children do not communicated normally. They may not look at people when they talk to them. The usually don’t understand facial expressions or body language. Often they engage in unusual self soothing behaviors such as rocking back and forth or hand flapping and may communicate less than expected with others. Some are “savants”, meaning that they may excel to a remarkable degree in some specific area, while being very delayed in a others.

The degree of severity can cover a wide range. I have patients who have been diagnosed with this disorder who are bright and functional, but just seem a bit “quirky” when someone talks to them all the way to teenagers who are unable to speak, are still in diapers and can have aggressive tantrums.

The most likely reason for this is that autism spectrum disorders are likely not one discreet entity, but a number of somewhat similar diseases. So, what causes it? Well, the difficult thing is that no one knows for sure. There are familial autisms where specific genetic defects have been identified. These all seem to be in genes involved with how nerves brow and connect to each other. there may be environmental factors at work as well. The current thinking in the medical community is that those factors may well bee ones that the mother is exposed to during pregnancy. It has been shown that some chemicals that the fetus is exposed to in the womb or in early development can actually turn genes off or on or alter there functioning. This is called an epigenetic effect.

Some of the possible culprits are plastics or pesticides. Both can contain chemicals that can mimic human hormones or other biologically active molecules. So, it would seem to make sense that they may effect gene expression.

Even accounting for increased awareness by physicians of this disorder and a broadening of the scope of children that are now labeled as autistic as opposed to simply developmentally delayed, there does appear to be a great increase in the number of children being diagnosed with some form of autism. The number now is a staggering one out of every one hundred fifty children. It is interesting that this increase seems to have begun after world war two when the widespread use of fertilizers became common and the use of plastics began to increase. That, of course, proves nothing, but does giver one food for thought.

People sometimes get confused, because there clearly are children who were developing normally, that at an age of, say fifteen months to two years, regressed. They stopped talking and communicating normally and developed the symptoms of autism. The fact that there illness started later does not rule out its being genetic or caused by an early exposure. For example, people with schizophrenia, which is clearly a genetic disease, do not usually develop symptoms until their late teens or early twenties. Not all of our genes are turned on at birth. There is, believe it or not, a mouse model of schizophrenia. Those mice have a defect in a gene that plays a role in nerve remodeling in adult rats. In these rats, as nerves try to make new cokeywordsnections, they over shoot their intended target and may make contact with a totally different part of the brain than they were supposed to. You can imagine that if a nerve from the memory storing part of the brain made contact with the parts of the brain responsible for vision or hearing, a memory might trigger a visual or auditory hallucination.

Much has been played up in the media about a supposed link between childhood vaccines, in particular then measles, mumps, rubella vaccine (MMR) that is given at fifteen or eighteen months of age. If you haven’t seen it in the news yet, the physician / researcher that started this whole debate has been found guilty of falsifying his data. All of the other authors listed on the original article have detracted their names from it. That physician was, at the time, working on the side for a company that was trying to market a screening questionnaire for autism, so he had personal financial gain at stake. Consequently, he has had his medical license permanently revoked in Britain where he was practicing.

The possible link between vaccines and autism was definitely not entirely out of the realm of reality to investigate. But, it has been looked at in many studies all over the world in the past couple of decades and the conclusion is clear - they are not the cause. I hope all of the parents reading this well please take this into account. Only a hundred years ago the US childhood mortality rate was in the order of 60-80%. People often had eight or ten children in the hopes that 2 or three would survive into adulthood. I don’t think any of us want to go back to those days. Also, please don’t assume that because these diseases are now less common that they are gone. That is far from the case. We had ten deaths last year in young infants in California from whooping cough, there was a measles outbreak in southern California last year, and, there was a confirmed case of mumps in Tehama County a few months ago. Remember, even if it seems like diseases such as polio are only still active in far away lands - all of them are only a plane ride away from your child.
blog comments powered by Disqus