Autism: Identifying Autism and the Steps for a Diagnosis

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

Host: Dr. Linda Austin – Psychiatrist

Announcer: Welcome to an MUSC Health Podcast.

Dr. Linda Austin: I am Dr. Linda Austin and I am talking today with Dr. Jane Charles, who is a Developmental-Behavioral Pediatrician. Dr. Charles, when a parent comes to you asking about why their child is not interacting or why their child is not speaking, what are some of the first steps you take to try to pin down a diagnosis for that child?

Dr. Jane M. Charles: The first thing that I do and often I do it with a team of other psychologist as well is we get a good history, we find out if there are any medical reasons why a child may not be -- might be delayed, have delayed language. We go all the way back to birth history and try to find out if there are any issues there that may cause a child to be delayed. We also get a pretty good family history because a lot of developmental disorders are inherited and run in family. So, we get a family history to try to see if there is anybody in family that might have a similar issue. We also look very closely at the child’s behavior, especially social interactions to see if they are appropriately related to their environment and if they are relating appropriately to their family members and to other children of the same age. Then, we do also a physical exam and make sure that everything kind of lines up okay physically and that they don’t have any kind of appearance as if they may have some type of genetic disorder that may be a reason why they also have developmental delay. Then, we do developmental testing to see exactly where are they in all areas of their development, their gross motor skills, their fine motor skills, and their language skills to make sure that they are all on target and if they are not on target especially if their language skills are not on target and it appears that from the history that their behaviors may indicate that they have an autism spectrum disorder, then we will proceed to do a specific autism testing. But it’s truly based on -- a lot of it on history and on our observation of the child in the exam room. There are several different tools that we can use, that we use to diagnose the child with autism. Unfortunately, many of them only go down to -- reliably down to about 15 months. For older children, we have very good tools that are quite reliable and are administered by people who are trained to administer these particular tests. We also rely on various check lists that ask the parents a lot of questions about their child’s behavior and development as well.

Dr. Linda Austin: Now, you mentioned that one of the cardinal signs of autism is speech delay. There are lots of ways a speech can be delayed. What is characteristic of the autistic speech like for example, is it just that those kids can’t express themselves? Do they still understand spoken words? Can they point to things that are named? Can you just describe that a little bit?

Dr. Jane M. Charles: Actually, you have to see a variety, a huge variety of lack of expression. You have got ranges all the way from totally nonverbal children, who have absolutely no speech and never developed speech and they also do not use gestures to indicate what they want.

Dr. Linda Austin: Do they understand?

Dr. Jane M. Charles: No. So, you see, there are two types of parts of your language. You have got expressive language, which is the vocabulary that comes out of your mouth and then you have receptive language, which is your comprehension. It’s the vocabulary you carry around in your head, it’s your understanding of language. So, children with autism typically have both expressive language delays and receptive language delays and that places them in a different category than the child with simple expressive language delay, which is very common. Those children generally can follow one-step or two-step commands, but the number of words coming out of their mouth say at 15 or 18 months is behind where it should be. So, that’s pretty easy to differentiate because a parent can understand when I asked them; does your child understand what you say and they will either say, yes or no. It’s pretty clear to them, whether they can understand it or not. Often in children with autism, they will make verbalizations that are unusual. They will either repeat little sound, make a lot of sounds that are sing-songy, but that are not meaningful. Another thing that children with autism do is called echolalia, where they repeat things that they have heard and they will either repeat immediately what you have said to them, they will repeat it right back to you or they will repeat things that they have heard in the past and commonly, they repeat things they hear of videos, video cartoons and movies, and we call it video talk and for some children that is all the speech they have, it’s video talk. They do not use words to communicate their wants, but the will use video talk.

Dr. Linda Austin: How baffling for the parents to hear their children able to hear a back phrases that they have heard on TV without meaning?

Dr. Jane M. Charles: Exactly.

Dr. Linda Austin: That must be difficult for parents to accept and understand.

Dr. Jane M. Charles: Yes, it is and it also is for the schools. The schools seem to think well the child is talking and so, they really don’t need any help and we shouldn’t pursue any type of investigation as to why this is occurring. A lot of times, children with autism have a very focused interest on one subject. For example cars and so they can name many types of cars. In fact I had one patient, who could name 60 breeds of horses at the time of diagnoses, which was about she was about 3 years old, but she did not use language much to communicate her wants. She might use one single word at 3-1/2 say juice or milk or cookie, but and yet she could list off 60 breeds of horses.

Dr. Linda Austin: And identify them by photo?

Dr. Jane M. Charles: Yes, in books. So, she had a lot of words, but she didn’t have a lot of words to communicate with. She just had lists of words, nouns, and it’s not uncommon that kids with autism have a lot of nouns that they can identify things and they can point to things, but they don’t have words to use for social interaction.

Dr. Linda Austin: I will recall reading about one child, who became fixated on the bun warmers in McDonald's as an example of a very specific and rather bizarre focused point for interest. Surely, there has been discussion about why it is that autistic children will pick-out one particular item; any thoughts about that, any theories about that?

Dr. Jane M. Charles: No. I don’t know and they often change. I mean they will be fixated on dinosaurs at a certain age. Dinosaurs and trains are pretty big at young ages and then it may switch to vacuum cleaners for some reason. We do have a lot of patients, who are interested in vacuum cleaners and even though I have one patient who knows whatever restaurant they go to, he knows where that restaurant keeps their vacuum cleaner and knows what kind of vacuum cleaner it is. So, there can be pretty odd things. There can be maps. Sometimes, what’s hard to tell though if it’s something that it’s a many children are interested in for example Pokemon was big a couple of years ago and so if your kid is obsessed with Pokemon, but so are all the other kids in the neighborhood; it’s a little hard to tell how far abnormal that is. You know, it could be, you know it’s just right, maybe right over the line. I did have a patient to ask me what was my 8th favorite Pokemon character was. So, I knew that was a little abnormal and that got to help me with the diagnosis not -- my first favorite one, which would be fairly typical thing for a kid to ask you, what was my 8th favorite one was because she had about fifteen favorite ones.

Dr. Linda Austin: I heard of one child who became obsessed with lines and when you are describing some of the things, kids get obsessed with like vacuum cleaners have long hoses and trains have train tracks that are long lines and is that a common element? Just occurred to me that?

Dr. Jane M. Charles: It is actually and it’s visually, it’s part of the visual self stimulation that looking at lines. Often they line the objects up or cars up on the floor and lay down and look at them where they may squint to look down the edges of the table or down a line maybe paint it down along hallway. So part of it’s a visual, we call self stimulation and there is just I think something very pleasing about lines and their straightness. There are a couple of good books out about adults with autism and Asperger disorder and they can describe the pleasure that they have with certain types of self stimulation or for example fascination with numbers. Numbers and letters is very common in young children with autism and when they get older, they can talk about how numbers make them feel and they make them feel good. So, that’s one reason that they are pretty obsessed with it.

Dr. Linda Austin: Several times you have used the term autistic spectrum disorder as opposed to just autism. What do you mean by spectrum disorder?

Dr. Jane M. Charles: By spectrum we mean, the fact that this particular disorder manifests itself in a huge range of severity from very mild to very severe and there are actually three categories under the term autism spectrum disorder. We have autistic disorder, Asperger disorders, and third category called pervasive development disorder, not otherwise specified.

Dr. Linda Austin: Why don’t we go into each of those or at least the latitude, we have been talking about autism a lot. Let’s talk about pervasive developmental disorder and Asperger disorders in a separate Podcast.

Dr. Jane M. Charles: Okay.

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

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