How Is Autism Spectrum Disorder Diagnosed and Treated? (podcast)

ASD affects 1 in 54 children in the United States

Dr. Shirin Alonzo is an expert in autism at Scripps Coastal Medical Center Escondido.

Dr. Shirin Alonzo, Pediatrics, Scripps Coastal Medical Center

ASD affects 1 in 54 children in the United States

Autism or Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder. It is present at birth. It is not a mental illness. A person is diagnosed with ASD if they have certain clinical symptoms that develop in early childhood, usually before the age of 8.


In this podcast, San Diego Health host Susan Taylor discusses ASD with Shirin Alonzo, MD, an internal medicine physician and pediatrician at Scripps Coastal Medical Center Escondido with a specialty in neurodevelopmental disorders.


ASD covers a broad range of behaviors ranging from mild to nearly disabling. Dr. Alonzo explains how ASD is diagnosed and treated and why advocacy is so important. According to the Centers for Disease Control and Prevention (CDC), ASD affects one in 54 children in the United States.


“There is no cure because it is not a disease, but treatment can optimize development and learning,” Dr. Alonzo says.

Listen to the episode on Autism Spectrum Disorder (ASD)

Listen to the episode on Autism Spectrum Disorder (ASD)

Podcast highlights

 What is autism versus Autism Spectrum Disorder?

That’s a great question. It can be very confusing using these different terms. Before we used to say that a patient may have autism or be autistic. In that way they met a variety of clinical symptoms. But they may have also had Asperger’s syndrome, which is known as more high functioning autism. If a patient had a constellation of symptoms most consistent with autistic features, but didn't quite meet the diagnosis, then they were diagnosed as having PDD or Pervasive Developmental Disorder.

Somewhere along the line, physicians realized this is very confusing. What ended up happening is we created a constellation of symptoms in order to aid the diagnosis, where we can say a person has Autism Spectrum Disorder, where it actually encompasses all those different previous diagnoses.

Now what we say is if a person meets certain clinical criteria that, that person has ASD or Autism Spectrum Disorder. We no longer use the old terms of Asperger’s, autism, PDD. Now it’s more simplified. The diagnosis is more streamlined.

What are the symptoms, and when is the onset?

 In order for a person to have a diagnosis of Autism Spectrum Disorder, they must meet criteria that fall under three different categories of symptoms. These symptoms must develop in early childhood, at any time usually before the age of eight. They can start as early as six months. Some patients even tell me they notice signs before six months, or they can start later. But it’s really a childhood condition, that is a developmental disability. We notice that patients are not meeting developmental milestones.

The three different categories explain the milestones we’re looking at.

The three different categories that are important for the clinical diagnosis of autism include language and communication, social interactions and unusual behaviors. A pediatrician can assess these developmental milestones. First, the easy one to assess is language. A person should be cooing vowel sounds around a certain time, two months to three months. They should be babbling using consonant sounds when you get around six months, bah, bah, mah, mah, lah, lah, lah. And then finally by one year they should be able to say Mama to Mama, Dada to Dada, and then start putting words together, starting at age two and so on to the point of being able to have conversations, back and forth, communication where it’s appropriate for that age.

The language development is usually pretty easy to asses, because we can say, are you meeting those milestones on time? That's the first category that we look out for development.

The second category we look at are the social interactions. Now most people are familiar with the patients or persons who have autism based on what they see on TV or social media, where you see that person that’s not talking to you, or not having eye contact. And that may be true, however, there are also patients that have abnormal social interactions, meaning that they’re too friendly, not understanding the social boundaries. They might come very close to you. Now when you’re a child and you do that, you’re three four. You’re hugging everybody. That’s cute. It’s endearing. But then when you become a school age and you’re still doing that, then we know okay, that person’s really not understanding the social boundaries and they’re having abnormal social interactions. We assess that second category of development, which is social interactions. Then we look at something specific to autism, which would be looking at behaviors that might be unusual

We look at something called stereotypies, or stereotypes, meaning when someone does something over and over again, or has an obsession with something. These could be language stereotypies, meaning that they repeat the same thing, over and over again, or they love a song and they keep saying that song over and over again, or you might say something, and the person will copy you back. If you say, "Baby come here." They might say, “Baby come here. Baby come here. Baby come here.” That’s called echolalia. It’s a repetitive word use. Or it might be something where they’re doing over and over again. They’re hand flapping over again, rocking back and forth, running around in circles, over and over again, opening and closing doors. We look at these types of behaviors. Sometimes they can be really subtle too.

Can these symptoms change over time?

The symptoms can definitely change over time. That’s why when we are doing an evaluation we’re really looking to see did these symptoms exist before? What are they now? A child may have lined up toys over and over again, loved toy trucks, right. But you ask them, “Did they love anything?” “Oh yes, they always had toy trucks and they lined them up over and over again for hours at a time.” And now that person who may be a school-aged child or teenager is having trouble with social interactions at school. Now we know, this may have been autism early on, and now it’s manifesting in a different way. So definitely it can change over time.

 

Can you outgrow this?

 

Autism is a lifelong disorder or condition. But it can be in various forms. With proper treatment, it can change, and a person can reach their maximum potential. But no, this is not something you outgrow. This is something you’re born with.

How does it affect you as an adult?

If you’re an adult with autism, you may display a variety of symptoms. It really depends on how severe these symptoms are and how they’re going to affect your life. For example, if you have difficulties with different types of social interactions, you may notice that you have trouble initiating conversations with peers or your coworkers, or you may have difficulty maintaining relationships, especially with people of your own age. You may see that you might have easier time with people that may be younger than you or older than you.

What are the potential causes of autism?

There’s definitely a lot of controversy around this because there has been a lot of misinformation about what exactly autism is. As a reminder, autism is a clinical diagnosis based on a constellation of three different categories of symptoms. Now why people have these symptoms is truly based on genetic and neurodevelopmental abnormalities during the growth development period while that person is developing.

There are a lot of environmental factors that are contributing while that child is being developed in the uterus. There are also genetic factors that play a role into this as well. There’s no one cause. We know that there are risk factors. If a child is born preterm or low weight, we know they have a higher risk of having those three different categories of symptoms. We also know if there was in utero or in the womb drug exposures that they’ll be at higher risk for having neurodevelopmental disabilities.

We also know that there are certain genetic conditions like tuberous sclerosis, which is a neurodevelopmental disability, or another called neurofibromatosis that are also associated with autism. It’s very important that when you bring this up, you really evaluate the complete patient and try to look for potential causes or etiologies.

What are some of the common misconceptions about autism?

One of the misconceptions is that autism happens because of bad parenting. Because what you may see with a patient with autism is that they have a harder time following direction. They have a harder time following the norm. But this is not a result of bad parenting, or a lifestyle or the type of family that the patient is brought up in. This is purely something a person is born with. Another common misconception which gets a lot of publicity is that vaccines cause autism. Unfortunately, there was an article that was showing that perhaps vaccines could cause autism, but that was a false article and created a lot of controversy and misinformation. The thing with autism is a lot of times parents really want an answer. They want to know if they did something wrong, and they didn’t. They did not do anything wrong for their child to have those symptoms. And a lot of times when the symptoms develop, or we really start to understand what’s happening to the patient, it’s around the same time they’re getting all of the routine vaccines. There is no association. It just happens to be around the same time.

Can a change in diet, help with regard to the symptoms of autism?

That's a great question. You know, there are no studies, no good studies that show any particular diet helps the symptoms of autism. However, there are patients and families that will say that when they have tried different diets, like eliminating processed foods, decreasing sugars, being on a lactose-free diet or a wheat-free diet that they did notice improvements in behaviors with their child. I say if it doesn’t hurt the child in creating a type of diet plan, and helps the child, then it’s worth trying. Even though we really don’t have good studies to say that this diet is going to help this.

What do you do if you suspect that your child has autism? Who do you go see?

If you notice that your child may not be developing or meeting those milestones that one might expect, and this will be a lot harder for your first-time parent, okay, you really need to tell someone. That someone can be your pediatrician. That someone can be a school counselor if the child is school age. But you really have to start by telling someone who is trained in recognizing and being able to maneuver through the system to get you the proper resources for a person that may be developmentally delayed.

How do you deal with teasing and bullying or isolation because people may think you have a mental illness?

Autism is not a mental illness. It’s a neurodevelopmental disorder that you’re born with. You really can optimize your potential by getting the proper treatments and individual plan for yourself through your pediatrician, through a neurodevelopmental specialist, through a team as you’re growing up.

The number one thing is really to get rid of the stigma. One is to start talking about it and talking about it in an accurate and informative way. What is autism? Informing your colleagues if you are able to have those kinds of social interactions.

If you have a child that is nonverbal, you can be an advocate for your child and explain to others their condition. And not just focus on their disability, but actually focus on their abilities because people with autism see the world in a little bit different way than you and I might, but that way is special. It’s really finding out what makes a person unique. What do they enjoy doing? How are we going to optimize that potential in that human? That way we can break the stigma associated with autism and really make sure that everybody is having a fair chance.

 

What's the treatment for autism?

First and foremost, there’s no cure for autism because autism is not a disease. Autism is a disorder that fits into those three categories we talked about earlier. The treatments are going to be highly individualized. They are really going to be based on the symptoms that the patient is displaying. For example, if they’re not sleeping, we’re going to focus on getting them enough sleep, because that will affect behavior the next day. If they’re aggressive, we’re going to try to get them on medicines, so that they’re not aggressive, so they can pay attention and learn.

The goal for treatment is to optimize that person’s development and learning in all of those categories, in language, in social interactions, in minimizing those unusual behaviors. We do these both through a combination of medications and intensive therapies that can include speech therapy and the use of assistive communication devices because a person may not have words, but they may be able to communicate with you by using technology. It’s very important to tap into what that patient is able to do. Through therapies like social skills training, behavior therapy and using the resource of psychologists to educate the families on how to modify the care plan for the day at home so you can really help your child.

If you have autism, how can you be your own advocate? Or if you have a child with autism, how can you be their advocate?

It really depends on the level of autism that you have. A lot of times people who have autism and are higher functioning, meaning they can hold jobs. They can interview. Usually sometimes people will not be able to tell that you have autism. As a person with disabilities, you do not need to tell your employer during an interview that you have a disability. You are protected in many different ways. Now if you’re a child with autism and your nonverbal, it’s really the parents’ responsibility and the pediatrician’s responsibility to be an advocate to make sure that their school district and their teachers are providing the proper resources and therapies while they’re learning in order to achieve success.

 

Does a child who has autism need a special education program?

 

Any child with any type of learning disability or potential for disability needs a complete evaluation by their school district. And this evaluation is called an IEP or Individual Education Plan. That way a lot of different specialists come into the picture and evaluate your child to see if there are any deficits. How do they need to accommodate that person? So yes, a hundred percent, there will need to be an Individual Education Plan, and it’s going to be based on the symptoms or the deficits of that person and figuring out how are they going to optimally learn and what is the school going to be able to provide?


What’s the difference between autism and Autism Spectrum Disorder? (1:00)

It can be very confusing using these different terms. Before we used to say that a patient may have autism or be autistic. In that way they met a variety of clinical symptoms. But they may have also had Asperger’s syndrome, which is known as more high functioning autism. If a patient had a constellation of symptoms most consistent with autistic features, but didn’t quite meet the diagnosis, then they were diagnosed as having PDD or Pervasive Developmental Disorder.


Somewhere along the line, physicians realized this is very confusing. What ended up happening is we created a constellation of symptoms in order to aid the diagnosis, where we can say a person has Autism Spectrum Disorder, where it actually encompasses all those different previous diagnoses.


Now what we say is if a person meets certain clinical criteria that person has ASD or Autism Spectrum Disorder. We no longer use the old terms of Asperger’s, autism, PDD. Now it’s more simplified. The diagnosis is more streamlined.

What are the symptoms of ASD? (2:09)

In order for a person to have a diagnosis of Autism Spectrum Disorder, they must meet criteria that fall under three different categories of symptoms. These symptoms must develop in early childhood, at any time usually before the age of eight. They can start as early as six months. Some patients even tell me they notice signs before six months, or they can start later. But it’s really a childhood condition, that is a developmental disability. We notice that patients are not meeting developmental milestones.


The three different categories that are important for the clinical diagnosis of autism include language and communication, social interactions and unusual behaviors. A pediatrician can assess these developmental milestones.


First, the easy one to assess is language. A child should be cooing vowel sounds around a certain time, two months to three months. They should be babbling, using consonant sounds at around six months, “bah, bah, mah, mah, lah, lah, lah.” By one year, they should be able to say “Mama to Mama, Dada to Dada,” and then start putting words together, starting at age two and so on to the point of being able to have conversations back and forth, communication that is appropriate for that age. The language development is usually pretty easy to asses because we can say: Are you meeting those milestones on time? That’s the first category that we look out for development.


The second category we look at are the social interactions. Most people are familiar with the patients or persons who have autism based on what they see on TV or social media, where you see that person that’s not talking to you, or not having eye contact. There are also patients that have abnormal social interactions, meaning that they’re too friendly, not understanding the social boundaries. They might come very close to you. When you’re a child and you do that, you’re three four. You’re hugging everybody. That’s cute. It’s endearing. But then when you become school-aged and you’re still doing that, then we know okay, that person’s really not understanding the social boundaries and they’re having abnormal social interactions. We assess that second category of development, which is social interactions.


Then we look at something specific to autism, which would be looking at behaviors that might be unusual. We look at something called stereotypies, or stereotypes, meaning when someone does something over and over again, or has an obsession with something. These could be language stereotypies, meaning that they repeat the same thing, over and over again, or they love a song and they keep singing that song over and over again, or you might say something, and the person will copy you back. If you say “Baby come here,” they might say, “Baby come here. Baby come here. Baby come here.” That’s called echolalia. It’s a repetitive word use. Or it might be something they’re doing over and over again. They’re hand flapping over again, rocking back and forth, running around in circles, over and over again, opening and closing doors. We look at these types of behaviors. Sometimes they can be really subtle too.

Can ASD symptoms change over time? (5:26)

The symptoms can definitely change over time. That’s why when we are doing an evaluation we’re really looking to see did these symptoms exist before? What are they now? A child may have lined up toys over and over again, loved toy trucks, right. But you ask them, “Did they love anything?” “Oh yes, they always had toy trucks and they lined them up over and over again for hours at a time.” And now that person who may be a school-aged child or teenager is having trouble with social interactions at school. Now we know, this may have been autism early on, and now it’s manifesting in a different way. So definitely it can change over time.

Can you outgrow ASD? (6:07)

Autism is a lifelong disorder or condition. But it can be in various forms. With proper treatment, it can change, and a person can reach their maximum potential. But no, this is not something you outgrow. This is something you’re born with.


If you’re an adult with autism, you may display a variety of symptoms. It really depends on how severe these symptoms are and how they’re going to affect your life. For example, if you have difficulties with different types of social interactions, you may notice that you have trouble initiating conversations with peers or your coworkers, or you may have difficulty maintaining relationships, especially with people of your own age. You may see that you might have easier time with people that may be younger than you or older than you.

What are the potential causes of ASD? (6:54)

There’s definitely a lot of controversy around this because there has been a lot of misinformation about what exactly autism is. Autism is a clinical diagnosis based on a constellation of three different categories of symptoms. Why people have these symptoms is truly based on genetic and neurodevelopmental abnormalities during the growth development period while that person is developing.


There are a lot of environmental factors that are contributing while that child is being developed in the uterus. There are also genetic factors that play a role into this as well. There’s no one cause. We know that there are risk factors. If a child is born pre-term or low weight, we know they have a higher risk of having those three different categories of symptoms. We also know if there was in utero or in the womb drug exposures that they’ll be at higher risk for having neurodevelopmental disabilities.


We also know that there are certain genetic conditions like tuberous sclerosis, which is a neurodevelopmental disability, or another called neurofibromatosis, that are also associated with autism. It’s very important that when you bring this up, you really evaluate the complete patient and try to look for potential causes or etiologies.

What are common misconceptions about autism? (8:12)

One of the misconceptions is that autism happens because of bad parenting, because what you may see with a patient with autism is that they have a harder time following directions. They have a harder time following the norm. But this is not a result of bad parenting, or a lifestyle or the type of family that the patient is brought up in. This is purely something a person is born with.


Another common misconception which gets a lot of publicity is that vaccines cause autism. Unfortunately, there was an article that was showing that perhaps vaccines could cause autism, but that was a false article and created a lot of controversy and misinformation. The thing with autism is a lot of times parents really want an answer. They want to know if they did something wrong, and they didn’t. They did not do anything wrong for their child to have those symptoms. A lot of times when the symptoms develop, or we really start to understand what’s happening to the patient, it’s around the same time they’re getting all of the routine vaccines. There is no association. It just happens to be around the same time.

Can a change in diet help with symptoms of ASD? (9:22)

There are no good studies that show any particular diet helps the symptoms of autism. However, there are patients and families that will say that when they have tried different diets, like eliminating processed foods, decreasing sugars, being on a lactose-free diet or a wheat-free diet that they did notice improvements in behaviors with their child. I say if it doesn’t hurt the child in creating a type of diet plan, and helps the child, then it’s worth trying. Even though we really don’t have good studies to say that this diet is going to help this.

What do you do if you think your child has autism? (10:24)

If you notice that your child may not be developing or meeting those milestones that one might expect, and this will be a lot harder for your first-time parent, you really need to tell someone. That someone can be your pediatrician. That someone can be a school counselor if the child is school age. But you really have to start by telling someone who is trained in recognizing and being able to maneuver through the system to get you the proper resources for a person that may be developmentally delayed.

How do you deal with the stigma associated with ASD? (11:01)

Autism is not a mental illness. It’s a neurodevelopmental disorder that you’re born with. You really can optimize your potential by getting the proper treatments and individual plan for yourself through your pediatrician, through a neurodevelopmental specialist, through a team as you’re growing up.


The number one thing is really to get rid of the stigma. One is to start talking about it and talking about it in an accurate way, informing your colleagues if you are able to have those kinds of social interactions.


If you have a child that is nonverbal, you can be an advocate for your child and explain to others their condition and not just focus on their disability, but actually focus on their abilities because people with autism see the world in a little bit different way than you and I might and that way is special. It’s really finding out what makes a person unique. What do they enjoy doing? How are we going to optimize that potential in that human? That way we can break the stigma associated with autism and really make sure that everybody is having a fair chance.

What are treatments for ASD? (12:23)

First and foremost, there’s no cure for autism because autism is not a disease. Autism is a disorder that fits into those three categories we talked about earlier. The treatments are going to be highly individualized. They are really going to be based on the symptoms that the patient is displaying. For example, if they’re not sleeping, we’re going to focus on getting them enough sleep, because that will affect behavior the next day. If they’re aggressive, we’re going to try to get them on medicines, so that they’re not aggressive, so they can pay attention and learn.


The goal for treatment is to optimize that person’s development and learning in all of those categories, in language, in social interactions, in minimizing those unusual behaviors. We do these both through a combination of medications and intensive therapies that can include speech therapy and the use of assistive communication devices because a person may not have words, but they may be able to communicate with you by using technology. It’s very important to tap into what that patient is able to do through therapies, such as social skills training, behavior therapy and using the resource of psychologists to educate the families on how to modify the care plan for the day at home so you can really help your child.

How do you advocate for yourself if you have ASD? (13:37)

It really depends on the level of autism that you have. A lot of times people who have autism and are higher functioning, meaning they can hold jobs, they can interview. Usually or sometimes people will not be able to tell that you have autism. As a person with disabilities, you do not need to tell your employer during an interview that you have a disability. You are protected in many different ways.


If you’re a child with autism and your nonverbal, it’s really the parents’ responsibility and the pediatrician’s responsibility to be an advocate to make sure that their school district and their teachers are providing the proper resources and therapies while they’re learning in order to achieve success.

Does a child who has ASD need a special education program? (14:33)

Any child with any type of learning disability or potential for disability needs a complete evaluation by their school district. This evaluation is called an IEP or Individual Education Plan. A lot of different specialists come into the picture and evaluate your child to see if there are any deficits. How do they need to accommodate that person? So yes, a hundred percent, there will need to be an Individual Education Plan, and it’s going to be based on the symptoms or the deficits of that person and figuring out how are they going to optimally learn and what is the school going to be able to provide.

At what age should you get an IEP? (15:11)

You start doing that at school age, usually when a child is going into kindergarten. However, evaluations can actually be done before age three now, which is great. In the old days we did not recognize autism that early. Now our focus is early intervention. If there are any concerns before age three, we have resources through First Five San Diego for any mild to moderate developmental disabilities that we’re concerned about. They come out and do full evaluations in your home and get you those resources you need. You can call 2-1-1, as a parent, and ask for that if you have any concerns. You don’t even need a doctor to do that for you. There’s also the San Diego Regional Center, which is a federally funded program. It’s for people with disabilities. It’s a great program. If you’re under three years old and you’re at risk or having a developmental disability, you deserve and are able to get resources to help you. We create a plan before age three. Over age three we do it through the school district. It can be very, very complicated. That’s why it’s important to talk to your doctor who will help you maneuver through the system.


If you are suspicious that your child is not developing the way that a neighbor’s child is or that your other child was, or if you’re concerned there may be any type of developmental delays, please bring that up with your pediatrician, either through the well-child check, which is the checkups that you go to on a routine basis, or through any other visit. Do not brush it off as saying, “Oh, that’s just how he or she is.” “Oh, he’ll change over time.” “Oh, it’s because of this.” Remember the earlier we get resources and therapies for that person, the higher chance they’ll have for a successful life.

lightly edited for clarity

Watch the San Diego Health video about ASD

Watch the San Diego Health video with host Susan Taylor and Dr. Alonzo discussing Autism Spectrum Disorder (ASD).