I recently interviewed Dr. Rebecca Shaffer, a clinical psychologist at the Cincinnati Children’s Hospital. Dr. Shaffer has dedicated her career to understanding the unique challenges faced by individuals with autism and Fragile X. Join me as we delve into Dr. Shaffer’s insights on the individualized nature of intervention strategies and the transformative impact of equipping children and their caregivers with tools to navigate emotional regulation.

What inspired you to focus your career on neurobehavioral disorders like autism, Fragile X syndrome, and Angelman syndrome?

Dr. Shaffer: I started off knowing that I wanted to be a psychologist and I really wanted to work with kids. So, when I went to graduate school, it wasn’t focused solely on neurodevelopmental disorders. I worked broadly with children and families. I had a ton of experience with children while I was in graduate school. Coming to the end of my internship, I had a couple of kids with autism on my case load and had diagnosed a couple of kids.

Fellowship is basically the end point of your degree. You’ve finished your graduate training and there then is this opportunity to do a fellowship to get additional clinical hours for licensure and to get some research opportunities. There was a fellowship at Riley Hospital in Indianapolis that was focused on autism and neurodevelopmental disorders. I thought this was my last chance to get this experience. At the end of this fellowship, I would be an independent clinician, and this is a population that I haven’t gotten much experience with and if I’m going to be working with children, I wanted to get more experience.

I came into the fellowship just having seen a couple of kids and then spent the year focused on autism during the fellowship. Falling in love with the population, I had so much fun in terms of engaging in diagnostics and therapy and research opportunities while I was there. I was introduced to fragile X syndrome while I was on that fellowship, participated in a couple of clinical trials for autism, and then I was a therapist for several studies.

I knew that this was what I wanted to do going forward. So I have dedicated the rest of my career to working with autistic children.

What is Fragile X?

Dr. Shaffer: Fragile X Syndrome is a hereditary disorder that is passed down through families. So, it can affect males and females, but males are more heavily impacted because they only have one X chromosome. Since females have two X chromosomes, they can sometimes be severely impacted but sometimes they are not. It depends on which X chromosome is affected. It can be passed down through the dad to a female but the CGGs (cytosine guanine guanine repeats) are what’s impacted on the X chromosome. So it can only expand into full Fragile X Syndrome when a mom passes it on.

Gabi: So, does that mean if the boy has the gene, he can’t be just a carrier? He would actually have the syndrome because it’s X-linked.

Dr. Shaffer: Actually he could be a carrier. There are lots of carriers. There’s probably more than what we know in the population. A male could be a carrier and pass it along to a daughter. Then, the daughter could be the carrier and it could expand when she has a son. When she has that son or daughter, it could expand to the full mutation at that point. So, carriers are impacted with symptoms like anxiety, depression, and executive functioning challenges. There are also a lot of fertility issues that come along with it.

There’s also a disorder that’s similar to Parkinson’s called FXTAS that can develop later in life.

Are there overlapping challenges between Fragile X and autism? How do you address these in your research and clinical work?

Dr. Shaffer: In terms of its relationship to autism, fragile X is the largest single gene cause of autism, but that being said, it only accounts for about 1% of the cases because we fully don’t understand the whole picture of genetics yet regarding autism. Boys and girls with fragile X Syndrome can have a dual autism diagnosis. About a third of the kids who have fragile X will have autism. Another third of the kids will have characteristics that overlap between the two disorders and then a third of kids don’t have autism.

It has a lot of variability in terms of what the presentation looks like and the way it impacts families. There could be multiple boys in a family who have fragile X, and they could be very different. For example, one could appear very autistic, one may have an intellectual disability, and one could have a borderline IQ and may not struggle as much. But the majority of boys who have fragile X syndrome have an intellectual disability and have some sort of social challenges.

There’s a lot of overlap between the two disorders. It’s not uncommon for a child to have both diagnoses.

Gabi: So, if a child had fragile X and autism, or maybe displayed characteristics of both, how would that change your intervention strategy or does it not because interventions are so individualized?

Dr. Shaffer: I would say the things that impact the intervention strategy the most are the child’s language abilities. So, if they struggle with communication, that’s going to drive the intervention more than anything else in terms of approach, but many of the strategies that are evidence-based for autism are also evidence-based for fragile X as well.

There are lots of overlap in terms of what we would do to approach it, but there are a couple things that are specific to fragile X syndrome. Although anxiety happens in autism, it’s just far more prevalent in fragile X. So, as we are approaching interventions, we’re going to think about if anxiety could be driving this challenge. We’ll think about ways to lower anxiety to better support a child.

Gabi: That makes sense. I guess it is helpful that each intervention strategy itself is so individualized that it doesn’t really matter with the label is. You just have to think about the individual support needs that you want to target.

What unique challenges do children with ASD face in emotional regulation? How does Regulating Together address those challenges?

Dr. Shaffer: Kids with autism are at higher risk of experiencing emotion dysregulation or challenges with emotion regulation. There’s lots of reasons why they’re probably at more risk. Things like communication challenges, difficulties with changes in their routine, like some inflexibility or rigidity, difficulty understanding their own emotions, and understanding others’ emotions. Because they are at higher risk of having emotion dysregulation, they are more likely to have these challenges related to reactivity, etc. We also know that for the kids who have emotion dysregulation plus autism, they have more impacted outcomes than the kids with autism without emotion dysregulation. They’re more likely to have inpatient hospitalization stays, have to access crisis services, more suicidal ideation, and more challenges in a school setting because they are struggling with emotion dysregulation. There are not many interventions available that address that challenge specifically.

When we created Regulating Together, there really was nothing for the age group that we wanted to reach out to. Emotion regulation was just a small piece of a lot of social skill interventions or school-based interventions, but there wasn’t anything specific. I believe that if we can stabalize dysregulation, then kids will thrive in other areas. We need to address that before we get to social or academic challenges.

Regulating Together is a group-based intervention (learn more here). Most of our kids with autism are going to experience dysregulation in more social settings, like school or activities. We really wanted a group, so that we could in real time work on challenges as they happened in that setting. We do a progression of skills. The program teaches a lot of relaxation and mindfulness strategies as well as problem solving and identifying how big of a problem things are so that we can manage our reactions appropriately.

One of the key pieces is that caregivers are also in their own group during the child’s group. They’re learning how to be coaches for their children or teens so that they can implement the skills once the group is done because we are only with them for ten sessions, but caregivers are with them all the time. They’re better able to support them if they fully understand what the skills are and how to use them.

Gabi: That’s a really smart approach. Kind of on that note, I started volunteering at a preschool for children with autism, here in Nashville. I’ve been having this thought recently. They implement these very creative strategies to help the children with developing social and emotional skills. But, if you decide to mainstream your child into a public school with kids who may not necessarily have similar challenges, how do the effects of the strategies change if you aren’t continuously reinforcing them? Do you often see that if those behaviors aren’t being reinforced with the strategies that you’re giving caregivers or the children themselves, do you find that they aren’t as effective?

Dr. Shaffer: No, I don’t think there is a time where the skills aren’t being used in some way ultimately. I think it becomes part of the culture of the family in a lot of ways and caregivers often share visuals and resources with the school and other people who are working with their kids. The goal really is that the kids start to use the skills independently by the end of the program or ten weeks after. Our best outcomes are actually ten weeks after the intervention ends. We see some changes at the very end of the treatment, but we see the most positive outcomes ten weeks post. We think that’s because the caregivers continue to use the skills at home. The kids continue to use the skills and they look much better ten weeks later, and they maintain that significant change six months after according to our outcome data.

I think that in a lot of ways, it continues to be reinforced, both by the caregiver and internally. If you are able to control your emotions and have a positive outcome, then you are more likely to use those skills again because it worked the last time. We see a nice progression that’s specific to autistic kids. The children often apply the skills to other people first. So, they will, for example, rate what their parents are feeling on a five-point scale or maybe prompt their sister that what she’s upset about is really a small problem rather than a big one. The kids who apply it to other people first often eventually apply it to themselves and keep that application going later and more independently.

How do you measure progress in emotional regulation in children participating in Regulating Together?

Dr. Shaffer: We use the Emotion Dysregulation Inventory, or the EDI. Carla Mazefsky created it at the University of Pittsburg. It measures emotion dysregulation on two scales.

There is a reactivity scale and a dysphoria scale. We see the most amount of change in reactivity. We see something in dysphoria as well, but reactivity really captures what we’re working on and what we see change in over the course of the program. It’s a nice measure because families reflect on the past seven days. It monitors progress and assesses change in treatment. That’s our main outcome.

We have a lot of secondary outcomes. One of which that we are looking at is heart rate variability and physiological change. All the kids who come through the program wear a little heart rate monitor at their outcome visits while they do some relaxation, and we assess their baseline heart rate variability (HRV) and then their HRV while the kids do calming strategies. We measure this over the course of the program.

Gabi: That’s interesting. You take data thorough physiological conditions as well as data from the questionnaire itself.

Dr. Shaffer: We have multiple quantitative measures in terms of a caregiver report and a kid report. It measures emotion regulation when they come in and then how much when they leave. There also are self-reporting caregiver reports. We get this physiological piece that is completely objective. There’s no bias involved in whether your heart is beating faster. We also get qualitative results through interviews where caregivers share their experience in the program, what they found the most helpful, what they wish looked a little different, and where they need more support.

Gabi: Do you find limitations with some of the questionnaires or inventories that you use? I’m sure you have to make sure that the inventory is helping you with the representative sample you’re working with. I know that that can be a huge issue in research where some questionnaires aren’t applicable to varying populations and cultures.

Dr. Shaffer: I will say that some of the main measures that we used had such a large sample size. So, for example with the EDI, the emotion dysregulation was normalized across two large networks, one of which had kids who were on an impatient hospital stay. Because the data was collected in a clinical setting, it did often represent the population a little bit more. It’s also been normed for typically developing kids through the US census database throughout the US. I would say a lot of measures do have a wider variability in terms of who it was created for. If we look at IQ tests now, they have a much broader sample than they did 30 or 40 years ago. They are more representative of the population at large.

We do have to think about language differences though. So, if a family speaks Spanish, a lot of our measures aren’t necessarily translated and so we might not be able to enroll them in research, especially if our staff doesn’t speak Spanish. Additionally, reading ability is also a big component. For individuals who have some literacy challenges, we have to make sure that all of those measures can accommodate for a reading ability down to sixth grade so that it’s more accessible to everyone.

Gabi: Kind of along that note, when you send out the inventories and measure progress, you have these six-month outcomes as well as outcomes ten weeks after. So, do you send out the inventory every time?

Dr. Shaffer: We have families come in for their follow-up visits. They do a screen so that we make sure they have autism and an IQ at the level that is eligible for the study. The kids then come back in for a pre-intervention visit. They do their five week, twice a week intervention. We see them right after the program and then ten weeks later, and then six months later.

The six-month visit is virtual because it’s so far out. We’ve found it hard for families to complete measures without support and to engage kids to answer the questions. They need someone to kind of walk them through the process. We also record heart rate variability, so we have to collect that in person.

Gabi: Of course. If someone couldn’t come in for the six-month outcome data collection, would you have to eliminate all their outcomes from your study all together? Or could you just not take the six-month outcomes themselves?

Dr. Shaffer: So, there are ways to still include them and to account for missing data along the way. I work with an amazing statistician who manages all of that. Thankfully, we can keep their data in that data set.

The SPARK study is a significant initiative for autism research. What have been some of the most promising findings or contributions from Cincinnati Children’s participation in this project?

Dr. Shaffer: Yeah, so we have recruited a ton of kids into SPARK over the last eight or so years that it has been running. I was initially just a co-investigator and then became the primary investigator for the Cincinnati site about three years in. We have received supplemental funding from SPARK for products focused on community engagement, especially engaging the African American autistic community in Cincinnati.

We’ve had multiple posters and presentations around that work specifically in terms of what kinds of events or supports that we can provide so that we can better engage African American autistic children and their families because they are not represented in the research very well. It’s definitely an area that’s missing and there have been many injustices for the population with research in the United States. Engaging this group in a safe and supportive way has been our primary focus for the last three years for our site in relation to SPARK. I’m part of a work group that’s looking at measures to help understand the diagnostic journey for families as they get a diagnosis and how that might be related to their social, economic, and minority status.

What gaps in autism research or treatment do you feel still need urgent attention?

Dr. Shaffer: We still need more intervention research for sure. There’s a lot of kids that are getting diagnoses. We’re seeing higher rates and there aren’t enough services available, and we don’t fully understand interventions. A lot has been put into ABA in terms of coverage and research, but I think there are lots of other interventions that could probably be really helpful that we need to investigate.

The second gap I think is in health disparities. We know that individuals from racial and ethnic minority groups are less likely to get a diagnosis of autism. They’re more likely to get a behavioral diagnosis, and if they do get a diagnosis, it usually isn’t until late childhood or adolescence, which means they’ve missed out on treatment options and other services.  It’s important that we continue to do research that looks at the specific needs of different groups within the autism spectrum.

What would you say to girls or women interested in pursuing a career in STEM?

Dr. Shaffer: That’s a great question. I would encourage them to do it. There aren’t enough women pursuing these areas. It can be a little bit of an uphill battle at times in terms of having available mentorship and finding opportunities, but it’s definitely worth it and it is really important to continue along that path if you’re interested in it. Don’t feel discouraged if there are challenges along the way. I would also encourage you to look for mentorship from women who have had similar experiences or come from a similar background so that they can truly understand the challenges that you experience, and they can support you in the best possible way.