2 weeks ago



Sally, Ann, and Danny

Sally, Ann, and Danny 123 The most striking data on the increase in prevalence come from the state of California, which keeps good records on children with developmental disabilities. California has reported a dramatic increase in the number of children with autism but also a dramatic decrease in children receiving a diagnosis of mental retardation (though to be fair, this finding has been challenged as well). It’s certainly possible that children who in the past would have received a diagnosis of mental retardation are today receiving a diagnosis of ASD, especially since in many jurisdictions it’s easier to get services with an autism diagnosis than with a mental retardation diagnosis. Ron and Carol raised a fourth problem in our discussion. They rightly point out that no one else in their family has autism, no uncles or cousins. In their case the other children in the family are completely normal and there are no extended relatives with the diagnosis. How is this possible, if the disorder is inherited? I explained to them that, in fact, there are several inherited disorders where there is little family history (like breast cancer and senile dementia), even though some of the genes that cause these disorders have now been identified. In addition, other studies have shown that single autistic-like traits, that are not severe enough to warrant a formal diagnosis, are found more commonly among relatives of children with ASD than in the general population. Traits such as social isolation, intense interests and hobbies, rigidity, unusual ways of communicating, and perhaps learning problems are not uncommonly seen in relatives from both sides of the family; about twenty percent of relatives are affected with these traits. So, although autism may be very rare among extended family members, there is some evidence that individuals with unusual personalities are found in the family tree. Now, it may be that once a diagnosis of autism is given, parents search their family tree and perhaps overidentify ASD-like traits in individuals that they might otherwise not recognize. People often look at their relatives with a new perspective and wonder if they might have a mild form of ASD. “It was from your side of the family.” “No, it was from yours—just think of your cousin William!” parents will sometimes argue. On the other hand, these data may indicate that the genes for autism/ASD are not uncommon in isolation and that the full disorder occurs when certain genes combine or when genes interact with certain intrauterine environments. So, no genes for autism have yet been identified, but several promising leads have turned up. Progress has been rapid in the last few years,

124 A MIND APART but it’s likely that many more years of work will be needed before we have a very clear picture of how these genetic factors cause autism/ASD. * * * Joan and Dave seem quite satisfied with the explanation. After all, as the parents of three affected children, the idea that autism is a genetic disorder seems quite obvious to them. But other parents like Ron and Carol are not so easily mollified, especially when the onset of autism is so closely connected with an event like a vaccination. To them the evidence that autism is caused by vaccinations is too compelling. There is even a new name for this condition, “new variant autism,” another subtle indication perhaps of not accepting the diagnosis. I point out that, contrary to what they may have read, there is now good evidence that vaccinations do not cause colitis and that the measles virus (from the vaccine) has not been identified from biopsies of the intestines of children with autism. Moreover, it is not unusual for autism to appear at around eighteen months of age and, as mentioned earlier, about thirty percent of children with autism do have this history of a regression in social and communication skills. But this regression occurs just as often before as after their vaccination. Based on whole-population data, it seems that there is no clustering of the onset of autism around the time of vaccination and no decreased rate of autism in children who were not vaccinated with MMR. The events surrounding Robert’s vaccination and the subsequent development of autism may have been a coincidence, or his brain might already have been vulnerable to experiencing a febrile convulsion, though the autism had not yet declared itself fully. I conclude by saying that the evidence does not suggest that vaccines and altered gut permeability play a role in causing autism. Ron and Carol, though, seem unconvinced. It is at this point that as a clinician I run straight into the limits of science. I recognize that my explanation appears pathetically meager, that it provides so little solace to grieving parents. The story I can tell is so vague and abstract. There are so many gaping holes that it is unsettling. It gives people very little to hang on to. In the face of this mystery and the limits of what I can tell them about what caused their child’s disorder, many parents quite understandably lose faith in the ability of science to tell them anything with certainty and turn to these alternative theories of cause instead. And they turn all the more readily to these alternatives when they also promise a cure.

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