Diagnostic silos hold disability research back

Photo and interview by Louise Kinross

Dr. Evdokia Anagnostou is the new head of research at Holland Bloorview. Evdokia, a child neurologist, clinician scientist and co-lead of our Autism Research Centre, becomes director of the Bloorview Research Institute (BRI) on Jan 9. She takes over from Dr. Tom Chau, who has held the position for eight years, and returns to lead the Prism Lab. We spoke about how Evdokia got into the field of children's brain development and what she's learned since she came to Holland Bloorview in 2008.

BLOOM: Why did you want to be a doctor in the first place?

Evdokia Anagnostou: In my mid teens I knew I wanted to do something that had meaning embedded in the job. I truly liked science and biology and was fascinated by the body. I was one of five sisters. My mom had breast cancer and was pretty ill and I'd seen how impactful physicians were in her and our life—in both directions. Good physicians were really supportive and made a big difference in how we thought about her condition and upcoming death. Doctors who did not see her as a person within a family, and the fact that she was dying in her 40s, had a detrimental effect.

BLOOM: How did you decide to work with children?

Evdokia Anagnostou: I didn't know what kind of doctor I wanted to become until the end of medical school. I was exposed to a pediatrician at the Montreal Children's Hospital who was truly inspiring. At the time he was running the Inuit program and seeing families from Iqaluit. He understood that physical health and mental health go together. He taught me that the patient is both the kid and the family and the physician's role is part of a trajectory that is not just about a particular condition. It's about a family and child envisioning a path towards a good life, and that can be interpreted in many different ways.

BLOOM: What kind of work do you do now?

Evdokia Anagnostou: I have a clinic one day a week, as well as doing research, teaching and some administration.

BLOOM: What is a clinic day like?

Evdokia Anagnostou: I see kids who have a neurodevelopmental diagnosis who have behavioural or mental health concerns. They've received care in the community and not benefited adequately and need additional support. They could be kids with autism or intellectual disability or fetal alcohol syndrome or genetic syndromes. They most commonly are referred for severe irritability and aggression. Others have anxiety and mood disturbance, or severe ADHD that is not responding to usual medications.

I work as part of the psychopharmacology team. By the time they come to us the concerns typically go beyond medication. They usually have a biological condition that is difficult to manage, but there are often also other social determinants of health that contribute to the complexity of their issues. It can be hard to identify and prioritize exactly what is impairing their quality of their life and ability to learn.

BLOOM: What are some of the social factors?

Evdokia Anagnostou: Parents' mental health has been ignored. We're living in a system where kids get service in children's hospitals and parents are supposed to get help in another sector. But the symptoms of the child affect the mental health of the parent, and the mental health of the parent makes it harder for the child to get the full benefit of interventions. We built the system that doesn't think of the family as a unit, and doesn't think of the health needs of every family member.

Poverty is another factor. 

BLOOM: It's hard to do anything when you're hungry.

Evdokia Anagnostou: Parents who have food insecurity concerns have burdens that overshadow everything else. We also see new immigrants who can't figure out how to navigate the system, especially when there are language barriers. These are families with many skills but we fail them because we don't think of the barriers they face in using these skills. They also often have a history of trauma that affects how they understand, trust and take advantage of services. 

Many of these kids end up on medication early, instead of being given access to services that teach skills. We forget that medication doesn't teach skills. It can reduce stress in an anxious person or make things a little better for a highly irritable person that can't self-soothe. But it can't help a child and family find meaning in life or rethink a good life, or get the skills to achieve what they want in life.

BLOOM: What has your research focused on and what's something important you've learned?

Evdokia Anagnostou: I'm very interested in using multiple modalities, from basic science and genetics and brain imaging to studies of lived experience, to understand the different versions of a good life, and the barriers to it. 

In the last 10 years we were funded by the Ontario Brain Institute to determine whether diagnostic labels like autism or ADHD speak to the underlying biology that kids have. Does the diagnosis help us pick the right intervention—whether therapy, a medication, devices or other supports? Or are there other factors?

We've learned that the diagnoses do not map to the genetics or to the structure or function of the brain. 

If we truly want to personalize health or do precision health, it's not the diagnostic labels that will tell us what medication or intervention a child will benefit from. We've shown that many kids who have different labels have similar biology, and will benefit from similar approaches.

On the other hand, lots of kids with the same diagnosis, whether it's intellectual disability, ADHD, OCD, or another mental health condition, have different brains. So when we prescribe based on a diagnostic label, there's a good chance the child in front of us won't respond. The problem is that we don't know what the markers are that will help us choose the right approach for the child in front of us and their unique brain.

BLOOM: What research are you most proud of?

Evdokia Anagnostou: It took some guts for us to say the existing labels we've built our careers on may be wrong, and may not be serving kids, and can we step back to collect the data to test whether they're wrong.

We got lots of pushback from all kinds of communities that are attached to those labels.

BLOOM: So the silo approach is counterproductive?

Evdokia Anagnostou: Those silos are hurting and they're not even true to biology. They're hurting our advocacy and hurting how we build health care for a lot of kids that have needs that cut across conditions. When you exclude some kids and include some kids it creates inequity. 

Thinking about kids and neurodevelopmental differences can be done without labels, but the whole sector is based on labels. We need to rebuild on a new understanding, but it's hard to have a conversation about that when we don't have the alternative yet.

BLOOM: What's the greatest challenge of your work?

Evdokia Anagnostou: Our health-care system is not flexible enough to follow the science. The  differences that produce challenging impairment don't fall into neat categories. We need to move away from consensus ideas based on labels to evidence-based practice that comes from understanding the child in front of us. What differences in that particular child are part of a problem and what are not part of a problem? How can we use the differences in a way that helps them envision a good life?

BLOOM: But right now all funding is based on the labels.

Evdokia Anagnostou: We need to redirect the funding to something that looks different. Changing the sector would require a lot of collaboration. It would include sharing our data across the different sectors and jurisdictions. Clinicians need to be able to access real-time data to show how kids are doing in their practice; a hospital has to access data in real time to evaluate how the programs they've put in place are changing patient outcomes; and systems should be able to access real-time data to see, jurisdiction by jurisdiction, pilot project by pilot project, and study by study, how outcomes of kids are changing. 

BLOOM: What are the joys of your work?

Evdokia Anagnostou: I'm really lucky. I've been blessed to find the meaning that was part of my existential distress as a teenager. I get joy out of seeing families thrive. I get joy out of the scientific exercise that gives us insights on the nature of things, and how the nature of things can be used to improve kids' and families' lives. I get joy out of collaboration with like-minded colleagues and youth and families who have become really good at helping us think through what's important and what's not. I get joy out of trainees who think they've found their passion, whether they're on the graduate student route and mostly doing science or the clinical route and have found their calling in serving kids and families. 

BLOOM: What emotions come with the job?

Evdokia Anagnostou: Excitement. Hope. Devastation, when I feel my skill set is not the one that's going to change a child's life. If what a family needs is income, mental-health supports for parents and housing, I know I'm not going to change their life. I still try to envision a role for me and that's one of advocacy to call into the system. That's why we need to develop a system that meets the needs of children with complex chronic conditions across sectors.

BLOOM: How do you manage stress?

Evdokia Anagnostou: I have colleagues here that are my sanity circle. It's a safe space where we share an understanding of the population we serve and the complexities. We can talk about solving problems. We can also talk about when we can't solve problems because we're failing, and we're feeling burnt out or losing perspective or we're only focused on what we don't have control over.

We feel safe sharing about when we get out of a clinic and we don't think we were our best selves with families.

We talk about science to get excited and think about what's possible and think through thoughtfully what the future could look like, and what procedures to put in place or grants we need to write or networks we need to build.

I also have a community of like-minded scientists all over the world that provide a safe place to have bigger conversations about how we secure funding and how we scale appropriately research to answer bigger questions. 

I camp a lot in a tent from May to October, and some years when I'm more brave I do winter camping until the holidays. In the winter months I camp in a yurt. Being in nature helps me bring my heart rate down and clear my head and find joy. I need to take a big breath and stop and reorganize my thoughts. Other things that feed my soul are music and theatre and the arts and Toronto has been a very good place for that.

BLOOM: How have your thoughts about autism changed during your journey here?

Evdokia Anagnostou:  A lot. I started my career thinking that autism was something that only needed to be considered in the context of solutions. I no longer think like that. I think of it as a developmental difference that comes with strengths and challenges and different kids have different combinations and that's why I'm so committed to personalized and precision medicine.

I know the label of autism doesn't mean much when I have a kid in front of me and we're thinking together about what they want for themselves, what matters for them, and where any interventions should focus.

There are a lot of kids with autism I don't see at all. Not all combinations and features of autism require intervention from health care. That was a transformative insight. The second one was that even when they need help, their needs and visions and trajectories are quite diverse and understanding them at a personal level is critical. There's no such thing as an average child with autism that we create interventions for. Our clients' visions of life are different, and they have very different definitions of what is most challenging for them. 

We have kids who are not concerned about social impairment, and are concerned about mental health. We have kids who are particularly motivated to be socially included and devastated by the social rejection they experience. 

BLOOM: How has this work changed you as a person?

Evdokia Anagnostou:  I'm much more accepting of individual differences and of different visions of what a good life is for a child or family. I've been thinking about the different roles of the physician. It's not always about biology and the science of medicine. I've been thinking about our role in advocacy and how we should be able to help shape the health system and interact with other systems have have a large impact on our kids. I'm thinking of the role more broadly. 

BLOOM: Why do you want to lead the Bloorview Research Institute?

Evdokia Anagnostou: I want to leverage my experience in national and international partnership-making to expand the impact of our work beyond the kids we serve here. The vast majority of children with developmental disabilities don't live in Canada or the U.S. or Europe. They live in parts of the world we don't typically interact with. I'd like to find ways to export our knowledge to impact globally the lives of kids. 

I'd like to bring our research experience of disrupting traditional diagnostic labels to national and global systems. How can the BRI play a role in disrupting current thinking in neuroscience, in interventions and in concepts of disability in a way that can transform outcomes for children, youth and families?

I think I'm well suited to serve as a bridge between the hospital and the research side because I've worn both hats. I'd like to contribute to a nimble system that goes back and forth and makes changes faster than usual.

The failure we see of translation from research to actually changing kids' outcomes is because of the 'in-between' systems we build as administrators that become barriers. I hope I can be in a position to influence how systems get built, remove barriers when possible, and develop the BRI into the group the government talks to for advice. 

I have a personal motivation to break the glass ceiling for scientists that share the many identities of the children and youth we serve, but also the leadership glass ceiling for women in science. We need to produce not just good data, but good leaders. 

I'd like to expand the way that people with lived experience and families influence how we hire, how we build research units, how we develop priorities, and how we speak to the health-care system.  

These are my original thoughts and motivations. But first we are working with our investigators, families and other partners to co-design priorities in research and to co-develop strategies to build the next generation of leaders and to impact children and youth beyond our walls.

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