Knowing When to Refer: How Audiologists Can Help with Early Screening for ASD

ROUGHLY EDITED COPY

EHDI - STOPHER

‘Knowing When to Refer: How Audiologists Can Help with Early Screening for ASD’

Casey Judd

March 10, 2015

3:00-3:30p ET

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"This text is being provided in a rough draft format. Communication Access Realtime Translation (CART) is provided in order to facilitate communication accessibility and may not be a totally verbatim record of the proceedings."

> All right, are you guys able to hear me okay? Okay, I just wanted to say thank you for coming in today to hear our presentation. Knowing When to Refer: How Audiologists Can Help with Early Screening for Autism Spectrum Disorder. We're counselors from multiple states. We get together to work towards providing optimal services for children with special Health Care needs and their families.

By the end of this presentation today, we hope you will be able to explain the importance of early ASD screening in young children referred for hearing evaluations due to speech language delay, to understand why audiologists are in a critical role to help potentially decrease the age of diagnosis and to know more about the online learning library that is being produced in order to help facilitate audiologists in this role.

So, what is Autism Spectrum Disorder? It's a complex neurodevelopmental disorder with heterogeneous presentation. So two children with autism may have very different expressions of this disorder. As is often said, when you've met one child with autism you've met one child with autism.

The DSM5 is the most recent update and has made changes in Autism Spectrum Disorder. We will go into some of the details of what these look like later in the presentation.

Research has shown that a reliable, stable and valid diagnosis can be found around 24 months of age. There's growing research showing ASD can be noticed within the first years of life. A recent study out the Cincinnati looked at children who were deaf or hard of hearing who were referred for an ASD diagnostic evaluation and while the number of participants was small at only 24, this is the most recent and welldefined study in the duly diagnosed population. It's important to note, the average hearing loss across all populations is not 14 months, but rather, the focus here is on the difference and ages of diagnosis when both disorders are present.

As this study showed, 25% were diagnosed with ASD by age four, 46% by age six. The more severe the hearing loss, the more likely it is to be detected early.

And in the early, in the dually diagnosed population, the hearing loss is diagnosed first.

So, despite efforts to lower the diagnosis of ASD, it remains on average that over two years later it can potentially be reliably obtained. No one discipline can do this alone. We've had great success with universal newborn hearing screenings. The audiology clinic may be the first referral for a child with ASD. Screening for other disorders is within our scope of practice. To quote ASHA, because children with ASD are often initially suspected of having a hearing problem, audiologists are in a critical role to spot possible signs of ASD in children whose hearing they're testing and to make appropriate referrals for screening and diagnosis of ASD.

AAA states audiologists may perform speech or language screening measures for the purpose of additional identification and referral of persons with other communication disorders.

So really, the question should be, why not us? So...audiologists are in a good position to aid in this effort, but why is it worth the time? Special rehabilitation efforts will be required, we want to aid that in the most effective way possible. Second, a delayed diagnosis ASD could lead to a missed window of opportunity. Early intervention creates opportunities for children with ASD to benefit more fully from intervention and it's been shown to lead to profound reductions in ASD symptomology due to greater brain plasticity due to problems in early brain development.

Now Lydia will tell you more about our early learning module.
> Now I'll introduce our project. We're creating an online learning course that's designed sequentially, but is searchable and may be reviewed by topic to support the audiologists in their role as surveillance professionals for communication disorders. We've started recording and hope to release these modules by May.

So, the first module introduces I'm sorry, the module topics were chosen to help audiologists identify children at risk for having ASD. With or without hearing loss. To initiate a conversation of concerns with parents and to make appropriate referrals. The introduction informs on the demographics of autism spectrum disorders and hearing loss. It describes the opportunity for audiologists to play a role in reducing the age of ASD diagnosis.

The genetic risk factors and environmental factors were present as part of the syndrome are discussed in the etiology of ASD. Red flags are specific behaviors that can trigger the screening and referral process.

In evaluation accommodations, you'll find suggestions to accommodate ASDassociated behaviors. These are using sensory toys as reinforcement or minimizing the distractions within the booth and finally external resources for audiologists and parents. These include resources from the CDC, possible resources to use at the time of evaluation and handouts that families can look through later.

Sumathi will now cover a glimpse of the etiology of ASD.
> Thanks, Lydia. So, I'd like to give you a short overview of the content of this module. And then I will talk a little bit in detail about some of the topics covered here. Because I think it's important information for you to take away from here today.

The module will contain basic information about genetics, DNA, types of genetic changes, inheritance patterns currently available, genetic testing methodologies and the etiology of autism, which we'll discuss a little bit in detail today. This section will have pretty much everything that we currently know about the genetics of autism.

So, it will contain information about the current syndromes that we know to be associated with autism, syndromes associated with both autism and hearing loss. It will have a list of the environmental factors that we know to be associated with autism and then we will talk about why it is important to have a genetics evaluation for this population.

We'll talk about when a referral for genetics should be made and how you can find a genetics service provider in your location.

So...genetic, as well as environmental factors are thought to increase the susceptibility for autism. An example of an environmental factor would be certain infections in a pregnant mother, such as CMV or rubella. And if you attended this morning's Plenary session, you heard about more such examples.

And, when it comes to the genetics of autism, the vast majority of autism cases, we think, are due to complex genetics. I'll take a minute to explain that, because it's complex.

It involves multiple genetic changes, individually, these changes are insufficient to cause autism, but when they interact with each other and sometimes the environment, we see the, the phenotype of autism.

And I put this slide in here just to show you how complex the genetics of autism really is. This is a hot off the press, 2015 article that shows the involvement of some of the autism genes in various cellular and molecular functions. So you have, oh, it's not very visible. There's chromatin modification, there's synaptic activity, channel activity, and this is just the tip of the iceberg, there's a lot of research that's still going on in this area so, stay tuned and come back to our module to find out what's going on.

So why is it important to refer a child with autism for a genetics evaluation? Actually going back to the first slide. The vast majority, I said, was due to complex genetics, but in about 20 to 30% of the cases, a genetic diagnosis can actually be made. And that means that genetic testing is available for these conditions. And, as opposed to having the complex genetics, it's a single genetic change that is primarily responsible for causing autism.

So...when, when a child with genetic, when a child with autism comes for genetics in evaluation, we're trying to find a diagnosis. So we're trying to see if they fit into the 20 or 30% that we can identify. And...once a genetic diagnosis is established, information about the natural history of that condition becomes available to the family.

Once natural history is understood, we can provide appropriate medical management. For example, if we have a child diagnosed with Rett's syndrome, we know that these kids are predisposed to having seizures. So we'll make a referral to neurology or maybe an EEG syndicated and then we know that kids with Rett's syndrome typically don't have malformations of the other organs. They don't typically have heart problems or kidney problems, so, inappropriate testing is not performed.

Also, very appropriate recurrence risks can be provided when a diagnosis is made. As opposed to providing just impedic risks when we don't have a diagnosis.

Once we know the specific genetic mechanism causing autism, the opportunity for prenatal diagnosis becomes available to the family.

So, where should I child with autism be referred to genetics? When there suspicion for a syndrome. In addition to autism, the child has one or more of these features, intellectual disability, birth defects such as a heart defect or a defect of any one of the other organs. Multiple minor anomalies. So differences that make the child look different from the rest of the family. However, that might not always be the case if the condition is running in the family.

Examples of minor anomalies would be hypertelorism, wide spaced eyes. Epilepsy is a good reason to refer. Microor heterocephalis, specifically having birth marks, a number of birth marks. So, either brown birth marks or white birth marks. And then, regression or loss of skills the child previously possessed and stereotypic hand movements. So...this, the images down here show girls with Rett's syndrome and they have this very stereotypic hand movement. They either wring their hands or clap them all the time, almost.

Another reason to refer would be when multiple family members are affected. Or if the family requests that they want a genetics evaluation or genetic testing to be performed.

And while audiologists may not typically be involved in making that referral directly to genetics for autism, it might be possible to refer in the future. Lastly, I'd like to leave you with this resource to find a genetics providers in your location. If you go to genetest.org, it will give you information where a clinic is located. I'd just caution that you make sure the phone numbers are current before you give them to the family. And...I'd like to conclude with that and let Nora continue to the next module.
> All right, so, I'm going to focus on module three of the module we're working on. Which is an emphasis on red flags for Autism Spectrum Disorder. Within our module, we'll have information on the DSM criteria for Autism Spectrum Disorder, but for the purpose of today, I wanted to focus on these red flags because they tend to be a little more accessible for those of who aren't regularly using the DSM.

Red flags, understanding red flags are important for parents and professionals alike. Understanding red flags is really kind of conceptualized in terms of helping with early identification. So if you're aware of potential red flags for ASD, you might have this ability as an audiologist to know what to include in some of your behavioral observations or what parent concerns to listen to that can then aid in this referral to someone who can diagnosis ASD.

The purpose of the red flags module is to familiarize you with the red flags. Because of the way the DSM is set up, we tried to group them in domains of social communication impairments and restrictive and repetitive behaviors.

Today, I'm going to go over a few of these red flags. When possible, we did provide age specifiers. For ones that have age specifiers, an impairment in or lack of that behavior by that age is considered a red flag. However there, are some that do not include age specifiers for various reasons and typically those may not, at any point in development, that's considered a red flag as well.

Before I go into some of these, I want to give you a caveat as well. If you notice one or a few of these red flags, that doesn't necessarily mean the child has ASD, but it can be helpful in making that referral and knowing what behavioral observations or parent concerns to be aware of.

So, first I wanted to start out with some of the social communication red flags. I've highlighted in blue and bolded them if they're ones you may not typically be paying as much attention to in an audiological visit.

The first is no big smiles or warm joyful expressions by six months of age. So, at six months, a typicallydeveloping child should have warm or joyful expressions with the familiar caregiver, especially. So it may not be that they're as receptive to you as a stranger, but to their mother, to their caregiver, they should have some warm or joyful expressions.

By nine months, they should be able to do back and forth sharing of sounds, smiles and facial expressions. So, when mom smiles, they should smile back or when dad smiles, they should smile back by nine months of age.

In addition, by 12 months, there should be some form of back and forth gestures, showing, reaching, waving to get people's attention. This, again, if these behaviors are not present, this is considered a red flag, a possible indicator of ASD.

And then, the last one here, by 14 months, if they're not pointing at objects to show interest, so saying, look, there's a projector, maybe they're not using words, but they're pointing and using that.

Additional social communication red flags including not playing pretend games. So this is by 18 months, typically developing children should be able to take an object, like a baby doll and pretend to feed it. Or pretend to talk on a cell phone now that we're in a technology age and children are seeing a lot of their caregivers and parents using cell phones.

Going down to some of the ones that aren't specified by age, any loss of previous skills or what we call a regression should be considered a potential red flag for ASD and as Sumathi was alluding to, should also potentially be something you make a genetics referral for.

The next one is trouble understanding people's feelings or talking about their own feelings. This doesn't have an age specifier, but obviously you wouldn't expect a very young child to be able to empathize or have emotional language. Starting to develop around the toddler years and will continue to progress throughout development. Generally children with autism have difficulty understanding emotions, talking about emotions, describing emotions and understanding that other people differ in how they're experiencing emotions as well.

So, that's it for the social communication domains. I want to talk about restrictive, repetitive behaviors. They're going to differ greatly because autism is such a heterogeneous disorder. Say there's a child who gets really upset, maybe has a tantrum, maybe is behaviorally disruptive when something in their normal routine or environment changes. This can be a potential indicator or red flag for ASD.

Having obsessive interest. So this doesn't mean that if your child really likes superheroes or the child who comes into your audiology office is really into a new video game that that's necessarily an indicator of ASD, but it's going to be to that obsessive quality. So maybe a child likes dinosaurs to the point that that's the only thing they're interested in, they don't understand that other people don't share that interest, it's to this obsessive point.

Some of the repetitive behaviors include flapping hands, rocking of the body, spinning in circles, they might also take objects like a car, in terms of you know, instead of playing with a car and going back and forth, they might spin the wheels repetitively. Looking for some of those behaviors that are atypical, that you maybe wouldn't see in terms of how other children might play with that car.

And finally, unusual reactions to the way things sound, smell, taste, look or feel. So, all of these, as you can probably tell, involve sensory modalities. So some kind of sensory sensitivity, that also can be an indicator or red flag of ASD.

All of these together, paying attention to them, maybe including them as something you're looking for behaviorally, might help in that referral process and so, what our module is aiming to do is familiarize you or the audiologist with potential observations.

One thing we're including in our module as a whole are some videos, but for the purpose of the red flags in and of themselves, we're not going to include videos. Two organizations, First Signs and Autism Speaks have free video libraries available on the internet right now. And these include some visual examples of some of these red flags I was just talking about. I'd recommend if you're not as familiar with some of these red flags, that you familiarize yourself by creating a login and going to either one of these. Like I said, they are free, but you have to create a user login that you use again and again to access these videos.
> So, now I glimpse into making sensitive referrals. So, in this module topic, I wanted to acknowledge there are challenges to make the referral and studies have shown that a level of certainty and a sense of urgency are identified as conditions that promote action based on knowledge. So, we can be assured that if a referral is warranted by familiarizing ourselves with the red flags that Nora spoke of, and comparing them to the parent concerns in our professional observations.