Broader Autism Phenotype: A Form of Autism

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Guest: Dr. Jane M. Charles - Pediatric Genetics & Development

Host: Dr. Linda Austin – Psychiatry

Announcer: Welcome to an MUSC Health Podcast.

Dr. Linda Austin: I am Dr. Linda Austin. I am talking today with Dr. Jane Charles about autistic spectrum Disorder. Dr. Charles, as we discussed this, anybody listening can think of people they know, many of who may be very successful, many of who may be in their own families, or marry, have children, etc, but nonetheless have some of the signs and symptoms of autism.

Dr. Jane M. Charles: That is very common. When interviewing patients, when we get the family history, which as I have said is an important part of our evaluation, we commonly find that the parents report that they have relative either brothers or sisters or aunts and uncles or parents, who are a little crooky, who perhaps are very shy, they are not interested in going out and being with friends or having friends over. They may be even reclusive a little bit and sometimes they also are little bit over organized. They like to keep things in certain places and they get very upset if things in the house are moved. These are the people that don’t have a diagnosis of an autism spectrum disorder and they probably would not meet the criteria for a diagnosis. But we do have a term for that group of people and it is called the broader autism phenotype. Phenotype meaning, just the kind of the way you look or the way you act as opposed to your genetic or genotype make up. So, that is commonly found in families of people, who have children with autism spectrum disorder.

Dr. Linda Austin: Are there certain occupations that those folks tend to gravitate towards?

Dr. Jane M. Charles: Yes. Generally, there are occupations that where there is not a lot of contact with a lot of people that they are not forced to have a lot of contact with a lot people. For example, engineering is common, computer programming. We wouldn’t see someone with broader autism phenotype personality, being in sales or being in real estate or something like that where they would have to engage in a lot of conversation with people. I had one patient one time whose mother told me, you know he reminds me so much of my brother and I said, I knew it was coming, I said what does your brother do? She said, he is the Director of a Clean Room where they make computer chips. So, it was one of these kinds of room where you had to go in and you had to get all dressed up, I don’t think it was sterile clothing, but it was very clean clothing and wear something on your head and on your hands and a mask and everything like that. So, she said you know it’s just like that. He is not very social, he doesn’t like to go out, and my son reminds me very much of him and so, she didn’t really realized that she was describing someone on the broader autism phenotype.

Dr. Linda Austin: It occurs to me that civilizations need some of these folks and that they must make extraordinary contributions.

Dr. Jane M. Charles: They do, they do. We find that those are the scientist and the people that can be kind of hyper-focused and of course we are rewarding them for doing this. You know, these are the scientist, the people in academics, the people in industry who come up with the computer chips and who develop the high technology needed for space in all and they spent hours and hours and hours of everyday doing it because they don’t want to be bothered and it’s good they don’t want to be bothered because then they can focus on developing this technology.

Dr. Linda Austin: I would think that there would be certain social difficulties in family life though.

Dr. Jane M. Charles: Yeah. It is difficult to have one family member being somewhat on the spectrum or close to the spectrum. For example, the father, the mother, and the other one not being on the spectrum. For example, I just recently saw a patient where the mother and the father had two boys, both of whom have autism and the father has yet to be diagnosed with autism, but is recognized that he has the symptoms and we are trying to get him a diagnostic evaluation and the mother just was in despair in my exam room saying, I am living with three people with autism and I am working full time and trying to manage my job and raise two children, and living with the third person with autism. He was having difficulty holding a job. He had actually gone through college and graduated, but could not hold the job because his social skills were so poor. He irritated everybody and alienated himself and just quit.

Dr. Linda Austin: One thought that comes to me is, I have so many friends who are woman doctors or some male doctors who seem to have a very high frequency of children with some sort of pervasive developmental disorder or which you would describe as a broader autistic phenotype and it occurs to me that if you think of let’s say those woman who are doctor say themselves or probably unusually scientific, unusual for women and maybe come from highly scientific families where it wouldn’t be so surprising then that there would be a higher frequency of autistic children that may come from those families.

Dr. Jane M. Charles: That may or may not be true. In the past, in the 40s when autism was first described and initially was thought to be psychiatric disorder and that it was caused by neglect and rejection by the mother. In fact they called the mother’s, refrigerator mothers because they were seen as cold and uncaring and didn’t nurture their children and they were diagnosed in families, where the father parent were professionals, the fathers were often academics, in academic situations. We do know now though that autism affects equally all socioeconomic classes. It may be that children of higher socioeconomic classes get diagnosed earlier because they come to the attention. Their parents are aware that something is not right and they come to the attention of a physician or a psychologist or someone who can make a diagnosis, but in our state from our research study that we have funded by the Centers for Disease Control, we have found that we have equal numbers of children with autism from African-Americans and from white and they ranges from all SES, all socioeconomic classes.

Dr. Linda Austin: So, maybe it’s just that I know a lot of doctors. It just seems to me that it’s a very common problem, which brings us to a really important issue, which is there is a lot of concern that it seems that autism and autistic spectrum disorder are on the rise. I know that you are very evolved in research in that area. What are your thoughts about that?

Dr. Jane M. Charles: That has been an issue for the past 10 years. Do we have an autism epidemic? Certainly, it is much more commonly diagnosed now than it was in the past, but is that truly a greater number of children or not. The current thought by the big researchers in the autism field is that the reason we are seeing more children with autism is because the diagnostic criteria has changed. So, if we went back to the 40’s and 50’s and used the same types of criteria that they used to diagnosis autism, we would not be diagnosing very many children with autism, but now the diagnostic criteria is bigger, I mean its broader. So, it’s easier to get a diagnosis of autism than it used to be in the past. Also, children are being brought to physician’s attention much earlier than in the past. The average age of diagnosis used to be close to 6. We are now trying to get it down to 3. Unfortunately, in South Carolina our average age of diagnosis is 5.

Dr. Linda Austin: Dr. Charles, thank you very much.

Dr. Jane M. Charles: Thank you.

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