Diagnosing autism: what parents and caregivers need to know

Dr. Jeremiah Dickerson, child and adolescent psychiatrist at the University of Vermont Medical Center, takes families through an overview of Autism Spectrum Disorder (ASD): what it is, how it’s diagnosed, and what that process of diagnosis is at the University of Vermont Medical Center.

A full transcript is available below.

Hi everyone. My name is Jeremiah Dickerson, and I’m a child and adolescent psychiatrist at the University of Vermont’s Medical Center. And I have the privilege of working with a really wonderful interdisciplinary team to offer autism diagnostic evaluations. And today I’m going to talk about the diagnostic process as it relates to autism spectrum disorder.

So what is autism spectrum disorder?

And, you know, this may seem like a simple question, but there’s some complexity underlying the answer, especially as our medical terminology related to autism and how autism is defined and has changed and evolved over the past few decades. Hearing the word autism may evoke many different thoughts and feelings and images based upon your own experience with autistic individuals.

What you’ve read about related to developmental disorders and neurodiversity, what you’ve been exposed to on social media and your overall lived experience and other sources of information. Essentially, Autism spectrum disorder is a term that’s used to describe a collection of behaviors that are neurodevelopmental based, meaning that there are brain differences that influence a child’s development and cause social, cognitive, behavioral and emotional changes.

These changes can be characterized as difficulties or viewed as assets and even strengths in some kids. And autism is characterized by persistent deficits in social communication skills and by the presence of restricted, repetitive behaviors or interests. These deficits or symptoms must be present in early childhood and be related to functional impairments. And this means that symptoms must negatively affect one’s functioning in order to fully qualify for a diagnosis of autism.

Importantly, though, questions arise as to who determines what’s impairing or not. And it’s important to explore, you know, symptoms and behaviors in an objective, curious and humble manner and avoid prematurely placing a judgment on any individuals presenting symptoms, notably the quality and intensity of such impairments and how the symptoms manifest can change over time and be influenced by many other factors.

The symptoms and associated impairments can also improve with environmental changes and the implementation of evidence based interventions. Parents and other caregivers are key players in the provision of these interventions and importantly, building, loving, trusting, attuned relationships with any child, autistic or not, is essential and promoting positive outcomes of note You may have heard of the term Asperger’s disorder or Pervasive Developmental Disorder.

These were diagnostic labels used in previous editions of our psychiatric diagnostic manual, the DSM. And while they may still have and or insight for individuals and their lived identity, these labels are no longer formally used medically. But when we think about autism, it’s helpful to break down one’s profile into four domains of symptoms. Number one, symptoms related to troubles engaging others in an expected reciprocal back and forth manner.

Number two, using non-verbal communication to relate to others. And we’ll talk more about what this might look like. Number three, troubles making and maintaining relationships with others. And this may also include troubles following basic social rules, displaying limited retention, imaginary play, etc. And some of these difficulties may be caused by underlying challenges in understanding another’s perspective or trying to put yourself into somebody else’s shoes, so to speak.

This is referred to as theory of mind. And number four, the fourth domain of symptoms is the presence of those restricted interests and repetitive behaviors. And the restricted interests may also relate to rigidity and significant difficulties tolerating change. And as we’ll talk about, symptoms in these categories can manifest in very nuanced ways. They may also be seen in other potential diagnoses and could be a part of typical child development.

At the same time, we’ve also been learning how gender can influence symptom presentation, which may look quite different than what professionals think when reflecting on the traditional or classic model of autism. Stated another way girls may present differently with autism than boys do, and that can kind of bring some complexity to the diagnosis of autism for sure. For many children, these symptoms can start to be appreciated before their second birthday, before they turn to and primary care providers should screen children around this time with a tool called the chat, which is the modified checklist for autism in toddlers.

If the chat score identifies social communication differences, the pediatrician should consider a referral to a specialist with expertise in diagnosing autism. General pediatric providers can make an initial diagnosis, however, which may help to expedite the initiation of services for some kids. So let’s dive a little deeper into the categories. Remember, it’s important to think about how these behaviors may be interpreted.

You know, thinking about atypical versus typical or expected versus unexpected, depending on where a child is in terms of their chronological and cognitive development. And so deficits in social engagement may look like a decreased ability to participate in back and forth conversation, reduced sharing of interests or sharing of emotions, or limited use of facial expressions when interacting with another person.

Decreased initiation of social interactions, decreased response to social interactions, meaning that when somebody attempts to engage another person, that that other person has troubles recognizing how to reciprocate that interaction that’s initiated by the other person. And lastly, challenges responding to their name when called. And so we see this in young children who are suspected of having autism that when the parents call their name or other caregivers call their name, that they lack clear, consistent, predictable responsiveness.

Sometimes these kids can have hearing problems, especially if they’ve had a history of ear infections. It’s important for a pediatrician or other kind of professionals in a child’s life to really ensure that a child is hearing well and that they are not displaying a hearing impairment because if they do, that can certainly manifest with a lot of these difficulties socially and may look a lot like autism impairments in nonverbal communication may present with some difficulty integrating verbal and nonverbal communication, meaning that there’s there’s some sort of dis-coordination or lack of coordination between expressive language and how a child is speaking or what they’re saying and with how they’re using gestures or using eye contact, or other nonverbal communicative means challenges in communication, nonverbal you may present with eye contact that is not used and in an expected social manner. Often kids may try to avoid eye contact. And this may be because making eye contact is really uncomfortable for some autistic children. Nonverbal communication deficits may present as difficulty reading others body language, reduced use of gestures yourself or reduced range of facial expression.

Often sometimes children can present with sort of a restricted fact or restricted facial expressions. They may look like they’re daydreaming or may look like they’re not paying a lot of attention to other people in their vicinity. And troubles making and maintaining relationships may look like difficulty adjusting their behavior to suit various social contexts. This may present as children, like saying something socially inappropriate in the grocery store or in other situations that might be perceived to be embarrassing by others.

It may look like difficulty in pretend play or playing in a back and forth imaginative way with other children. Kids may have difficulty making and maintaining friendships, and they may have a lack of interest in their peers and engaging in their peers or with their peers. This is not global to every autistic child. And I think this is really important to think about, because I think historically there’s been a myth attached to autism in that children who have autism or autistic children don’t really want social connection.

We know that now that that’s not entirely true. Often autistic children do want social connection and do crave connectedness and engagement with others. They may not have this skill set to pursue this effectively, or they may pursue it in a bit of a different way that can present as awkward or what we call idiosyncratic compared to other children their age and behavioral differences can manifest as repetitive play, like lining up toys, repetitive motor movements such as hand flapping or spinning in circles.

Autistic children may present with insistence on sameness. Therefore, they have difficulty with transitions and have extreme distress. When there are small changes in their environment. And thinking about this, you can get a really good sense of how this might overlap with symptoms of anxiety, particularly social anxiety and obsessive compulsive disorder. Kids may have strong attachment to unusual objects or intense interests that they really enjoy talking about and sharing interests around.

But it may be to a high end extent and maybe really functionally impairing because it prevents them from seeing engaging in their classroom, or it may interfere with their ability to listen to their teacher or to spend time with other students, autistic children may also present with a range of sensory differences, and that may look like sensory seeking behaviors or sensory avoiding behaviors such as, you know, covering their ears when there’s a loud noise, not being able to tolerate certain types of clothing, avoiding eating certain types of foods that most other kids would would tolerate and eat well,

Again, some of these behaviors may be developmentally expected or typical for children of a certain age and make it an important for a developmental expert to take a careful and thorough history when examining any child’s presentation and also listening carefully to caregiver concerns. Importantly, autism is a spectrum. It’s an array of strengths and challenges that can look very different from one person to another, and again, may look quite different to the same person as that individual develops and grows older.

As I’ve stated before, symptoms can be highly influenced by one’s environment. The expectations that are being set by others and one’s underlying learning and thinking profiles. All this being said, though, to qualify for a formal autism diagnosis, individuals must meet the criteria outlined in our diagnostic manual, what’s called the DSM five, and our role as professionals is to examine one’s individual profile and think about not only potential symptoms of autism, but also think about what else might be explaining concerns.

And could the symptoms again just be developmentally typical and not warrant any diagnosis at all with a diagnosis? Providers may also comment on the severity of symptoms, which has broken down into three levels one requiring support, two requiring substantial support, and the third level is requiring very substantial support. And examples at this level include children who are displaying very limited communication expressively, meaning that a child may make little or no attempts to share their thoughts or interests or to make a request with others.

These kids may have significantly echoed language, meaning that there are a lot of their language is repeating with other people are saying or repeating what they’re hearing in media, like on movies or television shows or videos. And these kids sometimes can display really unsafe behaviors that really warrants the need for, again, very substantial support, not only for the child themselves, but for the family.

So there’s been a lot of research related to autism spectrum disorder. And over the past several decades, the prevalence of autism has risen significantly, meaning that more and more children are being diagnosed. These are really complicated statistics, and it’s unclear what might be primarily driving this increase. Boys are more likely to have ASD compared to girls. And again, this is also a piece of data that’s been under increased scrutiny.

Boys may be more likely to present with the classic autistic symptoms, whereas girls presentations may be somewhat more subtle or mistaken for something like anxiety or shyness. This leads many to suspect that autism is actually being under-diagnosed in females here in the United States, most children are diagnosed with autism after the age of four, and there are many reasons for this.

And this has prompted researchers to take a closer look at how pediatricians are educated about the early manifestations of autism and accessibility issues related to a child being able to obtain diagnostic assessments in a timely way. There are many structural and systemic issues related to the delay in diagnosis, which for many children can reliably be made before a child turns three years old.

Autism is found across ethnic and socioeconomic groups, and culture may influence its presentation and how family members think about and make sense of a child’s developmental profile. There’s a fair amount of shame, blame and stigma associated with developmental differences, and we recognize this as this can add considerable complexity around conversation in the diagnosis of autism, children in minority groups like nonwhite youth may also be diagnosed later, and less often this is concerning.

And again, there are likely a range of structural influences that play. So the diagnosis of autism can be complicated. There’s no one test that can tell us if somebody has autism or not. There’s no blood test, no head imaging, no one singular tool that explicitly rules and or rules out autism. These factors can understandably frustrate caregivers as educators and medical professionals, especially, as we’ve stated before, that autism can present very differently from one individual to the next.

So the goals of an autism diagnostic evaluation include first to determine if the child’s symptoms meet established diagnostic criteria for autism or ASD to determine the child’s level of functioning and neurodevelopmental profile of strengths and weaknesses, which will affect the individualized management plan or what interventions might be most helpful for a particular child or family. And then to determine whether the child has ASD another condition or ASD and an associated condition.

Well, we’ll kind of touch on this later, but autism commonly CO occurs with intellectual or language impairment, other medical or genetic conditions along with other mental health and behavioral issues in children to ultimately autism is a clinical diagnosis. And so this means that a professionals role is to gather information and review appropriate data and use their background, expertise and knowledge to really reflect thoughtfully and critically on the possibility of an autism diagnosis.

A thorough autism assessment can take time, and we want to make sure that we have all of the relevant information to make an informed diagnostic decision. The evaluation may include an interview with parents and caregivers, the use of a structured observational assessment, and then additional testing to examine a child’s cognitive or language profile. It’s also important to get information from other people in the child’s life besides their parents.

As these people may be able to provide observations and settings outside of the home like daycare providers, other family members and teachers trying to get a full understanding of a child’s strengths and challenges is helpful in determining what services and supports may be recommended. Any diagnosis, autism or not, necessitates individual ISED intervention recommendations. Every family and child can have a different assortment of needs and resources, and our job is to help tease that out.

Ideally, an autism diagnostic assessment is provided by a multidisciplinary team. However, you may see a single provider during an assessment visit. The team works together to again best understand a child and get to know their strengths and struggles. Often, it’s helpful to have different professionals assess a child because of the complexity of one’s profile. For instance, we see children who don’t have much expressive language and have a hard time communicating with words.

And we also see children who have a really rich vocabulary, but they may not be using their words in a socially expected way, and they may also have trouble understanding non-literal communication such as It’s raining cats and dogs. A speech language pathologist can help to explore these language profiles, both of which could be associated with an autism diagnosis.

A child psychiatrist like myself is a doctor, an expert in emotional behavioral problems and mental wellness and children, teens and young adults. Because autism can share a lot of symptoms with many mental health concerns. And autism is associated with many co-occurring mental health diagnoses. A child psychiatrist can help to tease this out and explore concerns further in this way.

For instance, ADHD Attention Deficit Hyperactivity Disorder can present with pronounced social difficulties and be mistaken for autism. Anxiety can also be associated with social troubles and may look a lot like autism. Additionally, children who experience adversity, neglect and trauma can have really marketed social impairments. A clinical psychologist can administer cognitive testing and take a look at how one processes information and learns.

This can help to think about the possibility of an intellectual disability or what might be called global developmental delay in children less than five years old. A developmental behavioral pediatrician and a social worker are also instrumental members of the team. In our US Autism Assessment program, we tend to schedule visits over 1 to 3 sessions in person, and we’re located here at the University of Vermont Medical Center at one South Prospect Street in Burlington.

When the referral is received, our intake team triage is set to an appropriate track, ensuring that we’re able to meet the needs of an individual family. You will receive an intake packet to fill out and return in our schedule. Schedule are we’ll be in touch with you when it’s time to schedule your child’s appointments. We often reach out to early intervention or early childhood special education providers to get that additional information.

As I talked about earlier, here’s a picture of our building again. We’re located at the University of Vermont Medical Center, one South Prospect Street, and we have a family friendly office space, and we work diligently to support a child’s comfort level during our visits, often children remarks that they wish that they had more time to spend with her team, as there tends to be a lot of play involved in the appointments.

Over two mornings, we aim to assess a variety of things and a child participates in testing relative to their present skill level. And so the tools that we use tend to be in part determined by where a child is at developmentally, thinking about the language that they’re able to use and access, and also their learning skills as well.

So we try to assess social communication skills, cognitive skills and language skills. Our activities are play based and we do do more some more structured kind of focused tasks, activities as well. And our standard assessments are coupled with clinical observations. And so not only do children participate in these standardized assessments, but there’s also an opportunity to observe a child playing really with their family or with team members or by themselves.

Often the speech and language pathologist will administer the ADA. This is the Autism diagnostic observation schedule in the US is a play based assessment specifically designed to evaluate characteristics of autism in children and teenagers. The ADA utilizes a variety of toys and activities to engage children, and it’s administered by a clinician that’s specifically trained in administering this instrument.

Depending on several factors, thinking about age and comfort level of the child, the ADA can be done with or without a parent or caregiver in the room. The cars to the childhood autism rating scale as another tool and scale that’s often used in autism diagnostic evaluations. Notably, the cars, too, may be suitable for a primary care provider to use if a comprehensive evaluation is not available, or the wait time for a comprehensive valuation is excessive, The does too, is a cognitive assessment.

This is the differential ability scale. This scale attempts to look at how a child processes information, and it’s typically administered by a clinical psychologist and quite child friendly. This the dose is relatively quick to administer compared to most other cognitive tests that a child may be administered, say in a school system. It’s important to really examine how a child processes information because some children with autism exhibit cognitive delays and deficits, while others can have superior intelligence.

And the results of this tool can help to guide educational recommendations. So our job is to collect all of this information, and a single single provider or a team considers all of this information and makes a determination about an appropriate diagnosis for your child. We will talk about next steps and recommendations for your child moving forward. And we will also provide an opportunity for parents, caregivers, educators, other members of the team to ask questions and to engage in some conversation about the diagnosis and plan with team members.

Notably, it’s really important to note, as I stated before, you know, mental health issues, other behavioral challenges commonly co-occur with autism. There are other kind of difficulties and challenges that also co-occur commonly with autism spectrum disorder feeding issues occur quite commonly. A child may be hyper focused on only eating specific foods. They may have sensitivities to food textures.

Some children will also ingest non-food items as well, and motor coordination difficulties are not uncommon. Autistic children can present with clumsiness or trouble coordinating their movements between the different sides of their body, and they may have problems maintaining posture or have difficulties in terms of their core strength. Autistic children can display gastrointestinal issues as well. A lot of children with autism experience constipation and may present with stomach pain.

And often autistic children who are in pain may not be able to clearly communicate what’s causing that pain. And that pain may present with some significant behavioral challenges. GI issues can be associated with difficulties around toileting, which can be a huge stressor for parents. Autistic children can have sleep difficulties as well, and this may include difficulties settling to go to sleep, difficulties staying asleep, increased incidence of nightmares or night terrors.

Autistic children may have a lot of problems sleeping alone compared to other children their age. In addition to these areas of co-occurring challenges and difficulties, autistic children may also display a vulnerability to engage in self-injury. Autistic children also have a higher prevalence of seizure activity in teenagers and adults with autism. There’s a higher risk of having depression or anxiety, and then children and teenagers with autism may also have a higher prevalence of learning disorders or attentional challenges as well.

So thank you for listening today. I want to recognize that, you know, an autism diagnostic evaluation is only one step in any family’s journey to understanding their child, both again in terms of their challenges, but also in terms of their strengths as well. This is a diagnostic odyssey and we acknowledge the stress that this might be associated with as families attempt to navigate the process and the system of care that can often seem overwhelming, isolating and just really challenging to navigate well, we are really grateful to be a part of it.

We’re really grateful to meet the families and children and spend time with you and hopefully provide some answers that will help allow you to navigate this process and move forward with relative ease. Thank you.


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