Finding Joy with Parent and Autism Advocate Tola Andu

Episode Transcript

Dr. Correa:
From the American Academy of Neurology, Dr. Daniel Correa.

Dr. Peters:
And I am Dr. Katie Peters, and this is the Brain & Life Podcast.

Dr. Correa:
Welcome back, Katie. I'm so glad we're back together recording and setting up these episodes.

Dr. Peters:
Yes, absolutely. I'm ready.

Dr. Correa:
So I really want to know, day to day at the hospital and in your clinic, you deal with some of the most devastating and challenging cancers that impact the brain. Are there some ways that you practice and promote joy for yourself?

Dr. Peters:
Well, thank you for asking. You know what, I'm really a glass half full person, and so I love to celebrate any kind of win, whether it's a big one or a small one. If I get up in the morning and I'm feeling great, and I'm going to make it to Starbucks in time or I'm going to get my coffee, or I'm feeling good, I'm like, "Woo hoo, that's a win." And I know for you, you can have some big wins, like when you run a marathon.

Dr. Correa:
Yeah, I mean, a personal win. I'm not necessarily winning against anybody else, but it's all about those small achievements that we make for ourselves. And similarly, do you encourage a similar mindset and idea for the people that you care for, and their families to explore joy in their lives, even as they're experiencing this challenge?

Dr. Peters:
Yeah, I think there are two things. Of course, I'm all about celebrate the small wins. We see our patients pretty regularly and we're doing MRIs, so if it's a good MRI, that's a good day. We have them leave there. We're like, "Yep, today is good. We may have to do this in two months again to check on it, but today is a good day."
So focusing in on those small moments and making sure that they know that they are positive. And the next is also to really practice being thankful and being grateful. I try to do this daily, to say thank you to people for being in my life. Thank you, Daniel, for being on this podcast today. So again, practice that thankfulness and gratefulness, because ultimately we're going to have light and heavier moments, and we need to make space for both of them. So we can't be elated all the time. Joy isn't going to be constant, but we can still sort of go with the ebb and flow of everyday life.

Dr. Correa:
I like that perspective and that approach. Today we're going to hear from some lessons learned on how our society is very adapted to just often one way of approaching things. One of the only a few ways of raising kids, of teaching our societal interactions. And we know there can be similar challenges and a need for the small wins for people who might be raising a neurodivergent child or raising a child with autism. And today we will hear some of the lessons learned about how, despite the challenges of raising a son with autism, Tola, our guest helps maintain and promote joy in her community, and her house with her spouse and children.
Welcome back to the Brain & Life podcast. Now, today I'm really looking forward to speaking with the community member and advocate, who really has been a face for not only her own family and her son, but many in her own community. For those of you who aren't familiar with her amazing work, Tola is an autism advocate and content creator, who shares her journey raising her son Kevin, who's now 19 years old. In her platform Raising Kev, is a resource for the African community, shedding light on autism and offering a joyful perspective on raising neurodivergent children. She's passionate about changing the narrative surrounding autism and advocating for acceptance, understanding, especially throughout her Nigerian community. Thank you so much, Tola, for joining us here today.

Tola Andu:
Thanks for inviting me.

Dr. Correa:
So Tola, before Kevin, and maybe even before you being with your family, how would you describe who is Tola?

Tola Andu:
So I am a Nigerian lady. I was born and raised until my teenage years in Lagos, Nigeria, as is very common within the African, or would I say Nigerian community, to send their children abroad for better education, better life. That's how I ended up in Europe. I used to live in Dublin, Ireland where I went to secondary school and university. And yeah, I met my husband in Ireland and then the kids came along, and they were all born in Ireland too.

Dr. Correa:
Tell us about your relationship with your husband, and your hopes in raising and welcoming a family.

Tola Andu:
So yeah, we just met as young buds in Dublin, Ireland and the journey started from there. I suppose he's Nigerian as well, so we have very and Yoruba, because within Nigeria there's several tribes, but we are from the same tribe, so we speak the same language, like the same native language. And yeah, our views on life, our fate, all of those type of things aligned. And yeah, here we are now a long, long time after.

Dr. Correa:
So tell us, 19 years ago when you found out that you and your husband would be welcoming Kevin into your family. Tell us about your hopes for him and about his birth, and that welcome.

Tola Andu:
So funny enough, before I even was going to have kids, I knew I was going to call my first child Kevin. And when I was growing up in Nigeria, I used to help babysit a young boy called Kevin and he was such a cutie. It is so different from my own Kevin now, but he was so adorable and I was like, "If I have a boy, it'd be called," well, I said it would be called Kelvin, because the boy was called Kelvin. But then, I suppose in Ireland it's common to be called Kevin. And I kind of then liked Kevin better and then I chose to name my son Kevin. But talking about what hopes and dreams were for him, I suppose as any other parent looking to work on a child, you have great hopes and great dreams, and aspirations for your children, and all the fun things that you're going to teach them and do with them, all of that.
And following Kevin's birth the first year, it looks like things were aligning until we got to a stage where the development for him kind of just hit a standstill. We didn't quite understand it. It was nothing like we have been exposed to or experienced before. And it was very challenging from a parental perspective, from a community perspective, from a faith perspective, from lots of different perspectives. So yeah, the start was challenging. I don't think that any parent goes on to have children thinking that they might be autistic. It is something that becomes real reality and then what you make of that is in your hands really.

Dr. Correa:
Yes. And before that, with your pregnancy and the delivery, did anything seem like it was different from what you have seen other women live with and experience in their birth and pregnancies?

Tola Andu:
There was nothing. I had a brilliant pregnancy. Kevin was two weeks over, so that was the only part of the pregnancy, because by the late 30 weeks you are done. You are over and out. And then, having the baby that wants to bake for an extra two weeks is not on the cards. So that was the only thing from the pregnancy was that it was long and it still wasn't ready to come out. I still had to get induced, which makes it a hundred times more painful.

Dr. Correa:
Oh, man. Yeah.

Tola Andu:
But yeah, that was the only thing from the pregnancy, was by the time I got to the end I was really, really done with it and it looked like nothing was happening quick enough for me.

Dr. Correa:
And early on, you noted that after about a year there were some developmental things that you guys were noticing was different or the doctors were pointing out. What was it were the first earliest changes or differences that you guys were concerned about?

Tola Andu:
So it was really the language. So Kevin has always had good receptive skills. He understood quite a lot from early on. It was just more the expressive language that wasn't there and that wasn't a concern, because my mom was with us for the first year of his life and she gave a lot of reassurance. She is a mom of four boys and she told us that boys are very slow, and it takes a while for them to catch onto things and just be patient with him. So it was really the speech, like when children get to around one, you expect them to be saying their first words like mama and dada. And that didn't quite happen for us. Kevin was also slow to walk. He was about 17 months before he took them first steps. So a few things we were waiting for, but he was still a happy-go-Larry boy.
He was very content. He didn't cry much, he didn't need much. He was a really content baby. I had to give that to him. I suppose later on then him being picky about what he likes in terms of food came along. But in the early days it was more around the communication, the walking we were worried about. And then the interaction with other children. Again, we didn't worry so much, because he is our first child, so he didn't really have kids to play with anyway, so we just thought that that was what made him slow to catch up was because, and he's the first grandchild as well, so it was a first of any children that we had in our family. But when he started to go to nursery and he was exposed more to nursery, and they started to pick up as well that he didn't quite interact with the kids in the nursery, our worries got intense at that point. Yeah.

Dr. Correa:
And you had pointed out that Kevin was always very good at receptive aspects of interaction. And you mentioned that your husband, your mother, you, you speak Yoruba at home. I imagine you speak some English at home. Our immigrant families usually mix them all up together.

Tola Andu:
Absolutely, yeah.

Dr. Correa:
Did you find that there was a difference either in his reception of English and Yoruba, and over time as he's developed, does there seem to be a difference for Kevin between languages?

Tola Andu:
Absolutely. So he definitely understands English so much more. He has picked up some very commonly used greetings in Yoruba. So say like good morning or hello, those type of things that, like pleasantries, he is picked up, but he doesn't use them, but he gets them, like he understands. But sentences, not quite yet.

Dr. Correa:
So we want to get to some more of the challenges that you encounter over time in a family raising a neurodivergent child. But I'd really like to start with joy. So through your social channels, you often come back to the importance of seeking and seeing joy in raising a neurodivergent child. For you, Kevin. How do you and your family put this into practice?

Tola Andu:
I think it's a conscious decision. It's a conscious effort as well, because this journey, raising a neurodivergent child will take you through a roller coaster of emotions and you just have to be intentional about choosing joy. Even if it's as thin as a thread, there's always something to hold onto and not every day is joyful, but there's always hope. The two things that I hang onto the most is joy and hope, because when I look back at Kevin's journey from when he was young up until now, a lot of things in my mind, I didn't know if he would learn to speak.
I didn't know if he would be able to learn at the same rate as his peers. I didn't know if he would get a job. A lot of things were really worrisome and it can take a toll. It does actually take a very significant toll. And in the midst of all of that, I suppose earlier on I had learned that in life God doesn't make mistakes and he has blessed me with this child for a reason, and a bad day is not a bad life. That's the way I look at days that are really challenging. So it's always having hope that tomorrow is another day and another chance, and another opportunity. And it's not easy to do, it truly isn't. But as I said, it's a conscious effort and a decision that you have to make yourself.

Dr. Correa:
And one of the things you point out is, it's not all just you, it's the family. And if you've shared often how much of a champion for his brother, Kevin's younger brother is, can you recall for us an example or an instance where maybe you and your husband were really going through it, and your younger son really helps you all see the joy in the experience together?

Tola Andu:
I think as a family we're just naturally, we don't take things too seriously and we're very loud. Kaden being the youngest, he's the cheekiest. So most of the things that he does are funny. We've learned to find them funny, even when some after time they're silly stuff. But as I said, we kind of just take everything with a light heart. I just feel like if you are able to laugh at yourself, it wouldn't be such a big deal if someone else laughs at you.
And it's the way, that's the perspective that we use. We try and see the funny side of things as well, which it just takes away that overwhelm sometimes out of things when you are able to see the fun side of it or the not so serious side of it. We don't really take everything as massive. We try and see the fun in things and it really does keep us going. We bounce off off of each other and Kaden, as I said he's the cheekiest in this house. He truly is. There's not really a dull moment with him and he's always doing something that he shouldn't be doing or going somewhere that he shouldn't be going. There's always something going around in this house, whether is right or wrong, we just, it's all fun in games.

Dr. Correa:
You were just saying a little bit ago that raising a neurodivergent child can be a roller coaster, but for some people who aren't aware of some of the unique challenges, they might say, "Well, raising any kid is a roller coaster in life." How do you find it different? How would you help someone who just really, other than seeing people in the community on the subway or at the store, aren't really as aware of the challenges that your family might experience?

Tola Andu:
It is a double whammy when I believe when you are raising neurotypical and a neurodivergent child, because there are differences and in our life and in our family, there are specific accommodations that we have to make for Kevin as a family. But the thing is we do not see Kevin as... Kevin is Kevin, and because he's the first child with his siblings, they've never known him any other way and they've not known life any other way. So they grew up knowing Kev and all his perkiness, and all the type of things he does. So nothing about Kevin is new to them. I can understand for families maybe where your life was different and then a last child or something came along, and it changes the balance of things. But Kevin is our first child, so his siblings have come to know and love him exactly as he is, because they've never known him any other way. I don't know if I'd explain that properly or if that makes any sense, but when it comes to the challenges as a parent of raising neurotypical and a neurodiverse child, oh my goodness.
For the most part, I suppose as I said, the accommodations that we have to make for Kevin we have to make as a family and we are committed to that, because we do want Kevin to grow and thrive, and we're happy to support him the best way we can. I am, my husband is, his siblings are as well. They are honestly his biggest cheerleaders. And funny enough, before Kevin developed language, his sister who is, he's three years older than her, she understood him before I did, because he struggled with pronunciations and she'd be like, "Mom, Kevin is saying this," or she understood his dirty language. Sometimes when he says something and I'm trying to catch on to what he said, she would repeat what he said and she helped him a lot, because Kaden came along, my last son came along much later. Kevin is nine years older than him.
So at first it was Kevin and Kayla and they were best buds, and for a lot of times it was completely overwhelming, because Kayla wants to play with him, she's in his space, he's lining off his toys and she's banging them across the room, and he wants his things in a particular place, and she's gone and grabbed it out of there. So she's forced him to learn some social skills, whether he liked it or not, because she had no one to play with and there was no way he was refusing to play with her. So she was in his space all of the time. All of the time. So he didn't really get much choice, because he was trying to get away from the kids in nursery, but here he is at home with his own sibling that is going nowhere.

Dr. Correa:
Yeah. Often our own families are often the place where we learn to adapt to the world around us.

Tola Andu:
Absolutely.

Dr. Correa:
It seems like such a great example. And you shared with, you described this, the unique aspect that so much of our perspective and expectation on the world is on that, our own cultural background and our perspective for things around us. But Kaden and Kayla, they grew up in the house with Kevin there and that kind of reset, and they have a different expectation of the way things are, and communication and interaction than many of the rest of us. So it seems like they have a unique understanding in a way that many other people wouldn't.

Tola Andu:
Absolutely. I agree with that. The school that Kaden goes to, in the last couple of years, they opened a class for neurodivergent learners and Kaden really champions the class. Sometimes he comes in and says, "Mom, I went to," the class is called Avon, "and I was helping them with their reading." Because this is life as he knows it if that makes any sense. So he's quick to point out things like approaching the child and maybe if they're by themselves or sometimes with our children, they need a little bit of prompting to get on with things or join the game, and you would see that he has a quick eye for interacting with kids or going to say hello, or asking the name, or trying to make people comfortable. And I feel like that's just because he's done that for his brother the entire time.

Dr. Correa:
And while we all have our own unique cultural perspectives and expectations based on our backgrounds, you've described how there are differing expectations and cultural realities for the Nigerian community. What advice would you give to others families from diverse, whether Nigerian or other marginalized or diverse backgrounds who might be facing similar challenges?

Tola Andu:
I think that the most important thing is to realize that your life does not have to be perfect to be beautiful. And the more you are open to accepting your life as it is, because I think a lot the concerns that we have that makes us feel ashamed is because we have this image of what things should be. And it's very much present in my community, where you're supposed to be a certain way, you're supposed to speak a certain way, you're supposed to relate to people a certain way. For example, say with Kevin, my dad still till today tries to teach him how to greet the Nigerian way. And my dad is only here once a year and by the time he comes for the next visit, Kevin has forgotten the greeting, but he's still constantly trying to teach him how to greet the proper way.
And he has had a lot of learning to do, because sometimes this is our concern that, "Oh, my child is not going by the norm," but what is the norm? So I just feel like it's just important that you embrace your life as it is, because a lot of stress and overwhelm that we get is from trying to conform to what we think things should look like, what we think our children should be like, what they should behave like. Until when I adjusted my parenting to the parent that my child needs, my life was much easier than me trying to teach him what I thought it should be or what I think he should be doing, what I expect him to be doing. But yeah, when I adjusted and shifted my mind frame to helping, adjusting my parenting to who he was, my life was so much easier.

Dr. Correa:
Oh wow. And part of our cultural background and expectations sometimes also even come from faith and our community, but aside from those things introducing challenges, how has your faith and your community supported you throughout the journey of raising Kevin?

Tola Andu:
To be honest, it's been a roller coaster in terms of faith. Growing up, attended the same church as I did before I had Kevin. So the same case as our family. I was pregnant with Kevin there. He was born in the church, so they came along that journey with him. It wasn't a case of us going to join a new church. However, when we did move countries and tried to attend another church, then it was slightly more different, because this is him in the new space and this is them as well, meeting a new person. And that was challenging.
And I feel like in religious institutions in general, there still is a lot of work that could be done in terms of inclusion that really and truly is. And that's the bottom line. I don't think I can say in a better way, because sometimes if you want to take your child to a place and you want them to be comfortable, you want them to feel like they're accepted there. And that's not always the case. And to be honest, I go to an African church and there's a lot of singing, and screaming and shouting that happens, which is not always conducive to our children. So there's that bit of things. So church sometimes can be really overwhelming for our children, but I know and I believe that there are accommodations as well that can be made that includes our children.

Dr. Correa:
And what are some examples of those that you've seen in your own community?

Tola Andu:
I would say for things I've seen, as I said in our previous church where Kevin was born and basically raised, they did make accommodations and that's because they kind of just, they didn't know him any different. So if he doesn't want to sit down for bible study, then he didn't have to sit. And if he wanted to pace around a little, they literally just let him do his thing. And he likes the singing and dancing, and if that's what he's going to join in on, they were happy for him to join in and do things on his terms.

Dr. Correa:
You've also talked about balancing prayer and faith-based practices, along with the medical and therapeutic interventions that you receive from the healthcare community. How do you make some of those decisions for yourself, for Kevin and as a family?

Tola Andu:
Our faith is very important to us. As I said, we believe that Kevin is, as well as his siblings, they are blessings to us and God does not make mistakes when he creates us the way he does. So that alone is solace for us, that Kevin is exactly who we supposed to be. Because in our culture, sometimes there's a lot of misconception that autism is as a result of witchcraft or someone has cursed you, or cursed your child, or it's something that you did wrong in your past life, or a curse that's following your family around or something you did.
There's so many myths around not just autism, but disability in general. And we find solace in the fact that we know that Kevin is a blessing to us and God has created him exactly as he wants him to be. So when things get challenging, I pray to God for strength to manage those challenges. And I do not pray for God to heal my child, because he's not sick. So yes, he might be doing something that's extremely overwhelming for me, and that's what I pray about, that God give me the strength, give me the wisdom, give me the knowledge to be able to manage these things, because I know that he's created Kevin exactly how he wants him to be, but he needs to help me to be able to support Kevin.

Dr. Correa:
Tell us now what does Kevin's day look like and some of the things that he does, both enjoys and able to get done at home?

Tola Andu:
Kevin's day is very structured. Oh my goodness. And as for him, I suppose I can only speak for the child that I have. Kevin's day from the moment he wakes up to when he goes to sleep at night is very routine based, very structured. And on days when he has a difficult day, it's mostly due to the fact that something has gone wrong somewhere with the routine. If his day pans out exactly the way he usually has it, it's a perfect day. But there are life factors that sometimes get in the way of that. Kevin wakes up same time every day. Right now it's 5:45, it does this 20-minute workout, does this 20-minute workout, and then he packs his bag, packs his snack for lunch, then he goes and brushes teeth, he gets a shower, he comes out, he makes his breakfast, he catches the bus in the morning and he leaves at a particular time to catch that bus.
Now, things like the bus not coming on time, which means that he is not getting to college at the time he usually gets there, those type of things are what can be challenging, and that is where I have to step in to support him, because a breaking routine, I would wish that he is able to process and take it from that point. It is extremely difficult for him. And he would call me and he'd be distressed like, "Mom, the bus didn't come."
And I have to then support him, that okay, he knows what to do, but he still needs me to reassure him that, "What time is the next bus?"
And then he would check him, "Oh, this is the next bus."
And then, "Okay, catch the bus."
"So it then means that I'm not going to get to college until this time."
And I'm like, "Yeah, that's fine too."
And it's that reassurance that the day can keep going. So if something breaks that routine, it totally throws them off. And I have to offer a good deal of reassurance that we can still keep going. But if everything in his routine is as per plan, it's a perfect day, absolutely perfect day, but he's learning and he's come such a long way, really and truly such a long way. Things that would cause him extreme overwhelm to the point of meltdown now, because he's more's more expressive. And that's why I'm always, when you see our videos, I'm always chatting to him a lot, because if I can understand what the issues are, then I can be able to offer him reassurance.

Dr. Correa:
And what are some of the valuable resources or strategies that helped equip you to be there and help support Kevin along his development?

Tola Andu:
So early on in the journey, I was studying nursing and I decided in my final year to specialize in learning disabilities. I don't share this much, but I suppose you've asked me. So I did specialize in learning disabilities nursing. And for the first four years of my work life, that was where I worked. So I had a multidisciplinary team that I worked in and with the speech and language, they're happy to give you strategies, OT, they're happy to give you strategies. I just felt like I had to equip myself with knowledge and how can I help my son if I don't understand this condition? How can I help him if I don't know what's going on with him or I don't equip myself with the resources to be able to be that for him? And not everybody got asked to go off and do a degree.
And this was even back in the day when we didn't have resources like we do now. We didn't have real insight like we do now, families sharing, especially families that look like you sharing. So I feel like those resources are easier now to access. You really don't need to go off and read a whole book or to a whole degree, but that's what I had to do back in the day. And to be honest, from seeing adults, because one of the biggest fears is the fear of the future, because you don't know what that's going to look like and it can overwhelm you. You start to think of all the things and when professionals, they paint you the worst-case scenario and it keeps you up at night. It really and truly does. And for me, I worked in an adult facility at some point and I saw some of the good things that I would like to bring into my parenting, and I saw some of the things that I really didn't want and it informed my parenting.

Dr. Correa:
And I think we all want to hear more and look forward to so many more of yours and your family's experiences. And please for our listeners, make sure to check out the links to Tola's social media channels, both for Raising Kev and Sistershood, and taking a look at the resources and the examples that they use of what's helped. And as you look back now on 19 years of Kevin's journey, what message of hope would you offer to a family with a child newly diagnosed with neurologic or neurodivergent disorder, or even as you think back of Tola and your husband in that first year, what would you tell them?

Tola Andu:
I would say the same thing that I say a lot, and that is that your life doesn't have to be perfect to be beautiful. It's beautiful just as it is, and you just have to embrace your reality as it is. All of us, a lot of our stress, a lot of our overwhelm comes from us trying to conform, us trying to look a certain way, us trying to look a perfect way. I share us rough around the edges, exactly as we are. Nothing about our content is glamorized. Its life as we know it. And I'm grateful that it resonates with a lot of people and I hope that it inspires them to just embrace their life for what it is. So yeah, that would be what I would share, is that there's joy in your journey. It might be hard to see on some days, but a bad day is not a bad life.

Dr. Correa:
I think that's something we could all take into every day in our lives.

Tola Andu:
Absolutely.

Dr. Correa:
Well, thank you, Tola, so much. I feel like we all have many more questions and we'll make sure to check out your social media and keep track on all the fun adventures of Kevin, Kaden and Kayla.

Tola Andu:
Thank you so much for having me. This was lovely.

Dr. Correa:
Can't get enough of the Brain & Life podcast? Keep the conversation going on social media when you follow at Brainandlifemag or visit Brainandlife.org. As your host, we would also like to hear from you on Twitter at NeuroDrCorrea and at AudreyNathMDPhD. Welcome back to the Brand & Life podcast. I really appreciate Tola's perspective about bringing joy into her house and keeping communication supportive throughout her family. Now, we're going to get into a little bit more of a detailed understanding about autism and some of its causes and genetics.
We have invited one of the world's experts, Dr. Dan Geschwind as a professor in neurology, psychiatry and human genetics, and an academic and research leader at the UCLA medical school. He specifically leads many researchers in a focus on precision health. He's one of the world's leading experts on autism and guided development of the Autism genetic resource exchange alongside the organization Cure Autism Now, and is currently run by Autism Speaks. Many of you may have heard of some of those organizations. Specifically, he's also been spearheading work to improve the understanding of autism spectrum disorders and their genetics within populations that are not often included in medical research, including the African-American community. This also includes learning and listening, and engaging for members of the community, including the South Los Angeles area, to improve how we address their challenges with autism and related developmental disabilities. Dan, thank you so much for joining us and our listeners today.

Dr. Geschwind:
Oh, it's my pleasure. I'm really grateful to be here.

Dr. Correa:
Now I wanted to get back to understanding. In the news, we probably heard about precision health. It's a key part of your role there at UCLA. Help us understand what does precision health mean in research and in practicality for us day to day?

Dr. Geschwind:
Sure, thanks for that question. Many of us have heard this term personalized medicine, which means medicine individualized, but most physicians, including me, believe that when we see our patients even decades ago, we're giving personalized care. We use the term precision medicine or we use the term at UCLA precision health, because we're not just wanting to take care of people who are sick, but also prevention, to optimize health, optimize outcomes. And the idea is there's now enormous computational resources, big databases of patient outcomes and patient clinical concerns, and treatments, as well as a lot of other data, including genetics. And genetic predisposition can really impact what disorders you're going to be most susceptible to, how you might respond to treatments and in terms of that treatment, how to optimize your outcome and avoid side effects for example.
So genetics can inform all of that and your genetics is like a fingerprint. Currently in some ways, imagine you went to the eye doctor and he just handed you a pair of glasses, and say, "These glasses generally work. People who have vision problems use these to read."
But we know that we get checked so that we get glasses that fit our exact need. In other words, what kind of vision correction do I actually need as me? And so, think about it from that perspective that currently the way medicine goes, it's a little bit one size fits all and we're trying to move towards making it more precise. And so, using genetics in the background.

Dr. Correa:
That's just amazing that it's progressing so quickly. And I'm excited for its potential impacts in our work and in hospital medicine, and in my field, and in epilepsy. We've already started to see some of the changes in impacts. Now, we have had a previous episode with Abby Romeo and her mother, and she lives with autism. And we got some initial understanding and discussion on what is autism and autism spectrum disorders. And we've had some other episodes with family members and families living with other developmental disabilities. But I'd love to hear from your approach as a neurologist and a geneticist, what is autism and how are autism spectrum disorders different, and how do you think about them?

Dr. Geschwind:
It's a great question again. So it's a big question. So for one, autism is a syndrome. It's not a unitary thing. So there isn't a single lab test that you can do to say, "Ah, autism." It would be more akin to fever or pneumonia, where it could be a virus, it could be a bacteria, it could be fungus. And then you have to figure out exactly which one it is to get the treatment proper.
And so, autism is a syndrome, it's a neurodevelopmental syndrome involving differences in social cognition and in repetitive restrictive behaviors, which are generally have to do with mental flexibility, problem with changes in routine and things like that. A kind of lack of flexibility you could say, or rigidity. Some patients have repetitive behaviors. And so, it used to also be associated with language deficits. And I actually believe that language deficits are really a core component of autism as well. But the current definition doesn't necessitate that you have language issues.
So it's really this repetitive behavior, this executive function we call and this mental flexibility. And then, the differences in social cognition and social reciprocity. And so this usually manifesting before age three, so it's a developmental condition, but because it manifests within the first few years of life doesn't mean that that's when it actually occurs. It's actually what we know about it is that the risk, it's really a brain developmental phenomena that starts in utero when the brain is developing and the neurons are being born, right during the key aspects of the birth of neurons in the brain, their migration and their beginning to connect with each other.
And that occurs during fetal development. And so, the main risk for autism occurs there, but it manifests as the patient develops in different ways, because we develop one system on top of another. In other words, a six-month old doesn't speak fluently. That takes time to develop. So we're not going to see deficits in language early. Same thing with social cognition. Social cognition does start very, very early, but it kind of builds, and gets more and more sophisticated. So our ability to see these things that are components, that have occurred earlier, it's kind of set up the risk for autism has really manifested and begun to manifest itself during brain development. And then, we can diagnose it postnatally as these are facilities, our cognitive and social, and behavioral facilities develop. Does that make sense?

Dr. Correa:
Yeah, yeah. So it's really a collection of, as a syndrome of manifestations and symptoms that we're seeing manifesting in an individual. But what do we understand about its causes and its genetics at this point? As the sciences move forward, where are we with that?

Dr. Geschwind:
Right. And just like pneumonia or fever, there's not one cause. But if we look at broad autism, it has an enormous genetic risk component. So the heritability of autism, that means the component that's inherited from parents is close to 80% and that's the most recent, most up-to-date data from very, very large population-based studies in Europe. And that fits with a lot of other data from all around the world. So one could say 80% of the risk, 70 to 80% is inherited. Now, that leaves another component that's not inherited, but that doesn't mean it's not genetic. And I'll give you an example. Down syndrome is genetic, but it's not inherited from the parents. How does it occur? It occurs in the egg or the sperm. So the parents don't actually have the mutation, it's just the germ cells, the egg or sperm that have it, but that's the basis of the child.
And so, about 15% or so of autism, plus or minus, is due to rare new mutations like down syndrome, that aren't in the parents per se, in their skin cells or in their heart, or in their muscle, or their brain. It's just in the germ cells, it's just occurred as the germ cells, the egg or the sperm. That's what a germ cell is. The cells that are going to comprise the new embryo, it occurs there. And so, I would say about 15% or so, plus or minus, is that. So if you add that up, we're talking upwards of 95% genetics. So there's a small bit of room for environmental factors, and we know have known that there are environmental factors, like exposure to rubella or cytomegalovirus in utero. Valproate which is an anti-epileptic medicine in utero also increases the risk of autism. And then, there are a number of things that cause epilepsy or intellectual disability, like perinatal trauma or hypoxia around birth, that also can increase the risk of autism. But those things aren't specific. They increase the risk for brain damage overall, causing a variety of things, autism being one of them.

Dr. Correa:
And I guess this is where it gets back to the importance of the idea of something like precision health, that as we have better understanding of all those unique characteristics for each individual sense, we're each so different in our risk factors and potential for our overall brain health, whether it's autism or something else. That's where then things could be tailored to someone's specific need.

Dr. Geschwind:
That's really a brilliant summary. I mean, that really nails it. And so, people, usually these large effect new mutations, often in genetic terminology called de novo or new, those patients with those are more likely to have complex neurodevelopmental disorders. That could include epilepsy and intellectual disability, motor delays, as well as other organ system involvement, cardiac issues, gastrointestinal issues, et cetera. And so, that's the 15% of autism. That's a collection of very, very rare disorders. We've actually identified over 200 genes that can be mutated to cause autism in that way, but none of them account for more than 1%. So again, it's this collection of very, very rare things that happen during development, affecting brain development. But the rest of autism, many people with autism don't have a profound biomedical condition. They have a difference that could be called a disability in our current way of thinking about things that has to be accommodated.
So those patients maybe don't need to be treated per se, they need to be accommodated, because they have differences where they might be sensitive to light or sound, or other things. So we have to make accommodations, as well as have social sensitivity. And then there are the folks who have a profound biomedical condition, where they can't be independent and they need, and it's for those patients that the vast majority of our work is going on to try to ameliorate the condition, where if you have profound autism with intellectual disability or seizures, or a lot of other comorbidities, that we'd love to be able to reverse that as much as we can, or to ameliorate it, so that the patient can optimize their quality of life. Patient and family, right? Because this often has enormous impact past just the patient, to the family and all the caregivers who have to muster their time around the patient to help them navigate the world.

Dr. Correa:
And in each of those individual situations, I think what we've seen is that a person's and that family's potential for response to therapy and support, and treatment in terms of the development of skills is all unique to each community. So for our listeners, we're not saying that someone who also has epilepsy automatically has a profound impairment always.

Dr. Geschwind:
That's exactly right. That's exactly right. Definitely not. It's highly variable. Even in patients with certain mutations, you can have a wide range of IQs or symptoms.

Dr. Correa:
Now, Dan, I wanted to get back, because I heard you say that we've now started to have data from around the world of the genetics in autism. And I'm wondering, you say there's not a lot of variation, but what do we understand about the differences between communities and areas of the world, and the genetics or susceptibility to some of those environmental impacts of de novo mutations?

Dr. Geschwind:
We're just on the cusp of uncovering more about that. So we started a project about more than a decade ago in this country to increase the representation of groups that haven't been included. And one of the reasons is if you're thinking about precision medicine and genetics, different ancestries have very, very different genetics. We're not talking about race, we're talking about ancestry. And so, the genetics that underlies that can have profound impact. We know for example, in Alzheimer's disease that the most common genetic risk factor, APOE has different impact, people with different genetic backgrounds, such that African-Americans who have APOE4, which is the main risk variant homozygosity, do not have nearly the risk as patients who are European origin. So we know that's just one example among dozens where the impact of genetic variation is different in different ancestries, because of the different genetic backgrounds that people have.
And so, it's key from a public health standpoint and from a health equity standpoint, and human rights standpoint to, especially in a country like ours, to have genetic information from all of our population, so that we can serve them equally. And for example, if all this, so we noticed about a decade ago when we started to identify there was almost a waterfall of genes being identified in European populations, that really very little gene discovery had been done in African-Americans or people with African ancestry, and for that matter, people with Hispanic background as well.
And so, my colleagues at Mount Sinai have been working in a very large project that started more recently looking at patients with Hispanic background. And we've been working for the last decade in African-American populations, and our sample has just gotten big enough to begin to understand some things. So it's going to be very, very interesting. And lo and behold, and maybe not surprisingly, there definitely are differences in terms of the genetic risk factors between African-Americans and people with European background. Now, the average African-American has about 80% African ancestry, but about 20% European ancestry. And we can actually look at the very, very specific genetic factors there as well. We can dive deeper than just global ancestry, but that may be a little bit too much of a fine scale.

Dr. Correa:
Yeah, but it just does point out that much greater the importance of there being participation throughout our society and community in these genetic studies. Because you can't just guess based on where someone says they were born, the color of their skin, the quality of their hair, their genetic profile. We are all such a mix.

Dr. Geschwind:
Right, that's exactly right. And so, our social constructs of race to some degree do map on very generally to ancestry, but they're different. They're not the same. And so, we use, we're looking at the genetics, people's ancestry, which is not a social construct. It's where the biology really comes from. And as you said, there's a lot that you can't tell from just looking at somebody. It can be very, very deceiving. And that's not what we're after. And what we're after is an individual, you, whatever you are, we want to know what your risk is, what that means for you, what would be the optimal treatment.
Even if we could tell parents when a child is three years old, "Your child has XYZ. We don't have a treatment for it yet, but this is generally what folks with that look like, and this is what you can expect."
Until we had genetic information, it was extremely hard to even do that. Two children who were two or three years old could have vastly different trajectories, and we really had no information about that. Now we're gaining information about that. So number one, we can inform patients and their parents more about what to expect, and hopefully that will inform treatment as well. We're not quite there yet, but we're moving in that direction. So that you'd have specific treatments for specific genetic forms of autism.

Dr. Correa:
I could hear two different concerns that would come out of this that people might hear and think of, and say, "Well, you're telling me that between these two children, one of them maybe has a greater likelihood of greater severity of impaired language and other." But how much are we then forecasting ahead and expectation for that individual base on their genetics and maybe even impacting the choices that we make in supporting that person and their family?

Dr. Geschwind:
It's a great question. It's a tough one, but most parents want to know what to expect. And one of the points is that we can't have certainty, so we have to be good at communicating to our patients and their families.

Dr. Correa:
I appreciate that, yeah.

Dr. Geschwind:
A broad range of this is what could be expected, but at least it's certainly better than nothing. In some cases it can be reasonably narrow, like half the patients with this end up having epilepsy, so we have to watch for that carefully, or half have this, or some of these conditions are associated, some, rare, increased cancer or increased heart disease, and that can help us do surveillance to prevent those conditions or to mitigate them, et cetera. So it can be very, very helpful, but we have to be very careful. We have to have humility around this and know the more genetics it's done, hopefully the more precision we'll have around this. But we also have to that it's not a hundred percent predictive. In fact, the whole idea here is that we know that early intervention in autism writ large is helpful.

Dr. Correa:
A lot of people probably want to hear a little bit more about those environmental factors in a moment. But I wanted to get to the other concern, someone very excited about the progress of precision medicine, precision health, where these genetic studies are going, and the cusp of the information that you're talking about may be also aware of the clear and present concern of are we somehow slowing or hampering this research right now with the changes in the research funding infrastructure?

Dr. Geschwind:
Let's put it this way, our country's advances in health, in quality of life, and financially, our wealth is all pegged down to several things. One is natural resources, which we're very fortunate about. The other is kind of our educational system. And the third is really coupled to that educational system, is science. So much of what's going on now is based in technology and all the developments, COVID vaccines, et cetera. And so, antibiotics, treatments for cancer, treatments for cancer are very much the kind of cutting edge of precision health, where we identify specific genetic drivers of cancer and then treat those specifically. And same thing is beginning to occur in other disorders as well. Progress is marching forward at an extraordinary pace. Our country has led the world, because of our educational system and because of the funding of science that has really driven so much of this forward.

Dr. Correa:
Yeah, I think what's clear to me is if anyone listening, if the understanding of the genetics of autism and really of medical conditions or health conditions, or even the science of our society, infrastructure, environment, agriculture, these are all things that require the kind of research funding that we were talking about. Now you mentioned as precision health gets better, particularly in this space of autism, we may be able to better understand and characterize environmental factors that could be addressed or try to avoid, that may ameliorate the progress of the condition. But what are we understanding about the environmental factors right now that impact both development and autism, and specific?

Dr. Geschwind:
So development is a much bigger question for a whole other discussion.

Dr. Correa:
Okay.

Dr. Geschwind:
But from an autism standpoint, it's interesting. We know that the vast majority of risk occurs in utero during fetal development. And there's some rare environmental things that can happen, these viral infections, exposure to certain medicines, but there's not very much of a maternal environmental effect in autism. And I contrast that with schizophrenia, where the maternal environmental effect is well known, well established, and very, very clear. And so, schizophrenia is also a neurodevelopmental disorder at some level. So it really depends what we're talking about.
If we're talking about autism, there's not a lot known about environmental factors. There's a lot that's been disproven. For example, vaccines have been studied in autism more than in almost any other condition. And you, knowing epilepsy, will know the literature on infantile spasms, which also is an epileptic, profound epileptic condition that occurs associated really at the time when children start getting their vaccines. So it's totally reasonable for parents to say, "Ah, is the vaccine contributing to this?" Totally reasonable question. As a parent myself, it's a question I would ask. As humans, that's what we're supposed to do. We make associations between things.
I mean, that's how our brain works. But that question was asked and answered in infantile spasms, and just a few studies that clearly said, "No, the vaccines aren't doing this."
In autism, there was something else going on, something way beyond science that pushed for dozens of studies. And now there've been dozens of studies in dozens of countries, many different designs as well. That's really critical. It's not just one type of study. None of them have found any evidence for vaccines in autism. And yet, in some corners of our society, that falsehood still persists. Now, there have to be some environmental cause of autism. And so, the problem with focusing on vaccines is that that focus, which has been, takes our eyes off other things that might be happening, that perinatal factors and other things like that, that might be happening in utero in some cases. And so, there are some large epidemiologic studies going on now looking at gene environment interactions and trying to see if there are some environmental factors that we could mitigate, but it would most likely be gene environment, because so much of the risk for autism is carried genetically. But in rare cases, there are likely to be some environmental contributors. So that's a really tough nut to crack, and it hasn't been cracked yet.

Dr. Correa:
I wanted to then also get to your work to engage, learn from African-American community and other communities, not only for their participation in these genetic studies, but to learn about their challenges in living with autism. What are some of the unique perspectives that you've learned about either research participation in this area or even cultural perspectives and differences about how they think about autism, and how can we improve that?

Dr. Geschwind:
Yeah, it's a great question. Well, I think again, just like any community, the community of African-Americans who are participating in our studies represent incredibly heterogeneous views. There are many different views, and so there's no way to really encapsulate in a kind of single view, but I'll say a few things that I've learned. So my colleague John Constantino suggested when we started doing the genetics, "Let's try to understand what the struggles have been, what the experience has been."
So we developed something called EHCI or event history, calendar interview. So it's based on you anchor your questions to a parent in kind of very specific things, first birthday, kind of memorable things. So it improves the ability to get correct information. And so, we developed this for this population, and through that we learned a number of things. Number one, when we started the study, the average age of diagnosis of children with autism were African-American.
It was delayed three to four years on average versus a white child, Black child versus white. Same thing with Hispanic, a little bit less so, but similar in Asians, not quite as much. Now, those disparities, because of recognition of autism in diverse communities, because of that, those disparities have started to have really been almost largely wiped out. But a couple of things that we saw, one is we asked parents about their experiences and when they had their first concerns, and then when they went to a doctor, and when their child was diagnosed, et cetera.
And I might've thought that, "Okay, we're looking at a population, at least in LA and certain other areas, that might be on average less resourced than other populations. So maybe they don't go to the doctor. Maybe their concerns are later, et cetera."
That wasn't the case at all. They had early concerns. They brought them up to their doctor. And the problem was, it took in about a quarter of people, six visits, six different doctors to get a diagnosis of autism. So that's what was really driving the delay, not some lack of recognition or some under resource. And this was the same whether people had public insurance through a Medicaid type thing or private insurance. And so, there was really a disparity there. So that was one thing. And so, we published that in the journal Pediatrics, I think in two or three years ago, and there was an editorial about that that really emphasized, this was an example of, you could call it structural racism in the diagnosis of autism.
And so, one of the questions has been, "Is it because it looks different? Could that be because of social cultural things, right?"
Because we're looking at behavior, which is modified by social cultural context. And we really don't know that much about it, but one thing that we did notice, and the CDC noticed as well in their reports, was that at eight years old, the average child with autism was Black, there were more children who were intellectually disabled than in the white population. And one of our thoughts about that was, "Well, it's either because it's being driven by certain, that children with autism who are African-American might be getting other diagnoses, and it's only the intellectually disabled who are getting an autism diagnosis."
In other words, those who have behavioral issues and aren't intellectually disabled often get a pejorative diagnosis, oppositional defiant disorder, or other things like that. And there's been work showing that as well. But another thing that's possible is that the children are just getting less services. So one of the big disparities was diagnosis, and that's kind of been dealt with overall, the CDC shows that there's no longer a huge delay compared to white children and Black children or Hispanic children.

Dr. Correa:
In terms of the actual diagnosis, but we might still be seeing it in services and other.

Dr. Geschwind:
Oh, not just might. We are seeing. It's not just a delay in services, it's the actual dosage of services. They're getting suboptimal amount of services, not sufficient to really move the needle on average, and we see that as a major problem. I was just going to say the first, so we identified this problem, we're researchers, right? And so, now we're trying to figure out how to fix that, but society's really going to have to fix that, right? By providing resources to actually allow us to do that as a field, not us as researchers.

Dr. Correa:
Yeah. And to see it as a benefit for all of our community. I think that's such an important aspect. Sometimes, unfortunately, it's thought of as just extra services for one family rather than how it impacts all of our community.

Dr. Geschwind:
Well, and just the cost to everybody, and even just those, it has a ripple effect, obviously, through not just economically, but in terms of quality of life for everybody.

Dr. Correa:
I just wanted to get a sense and a moment for your own reflection. How has working in this space and with these community members, and families living with autism changed how you think about your own parenting, and about the value and abilities of the members in your community?

Dr. Geschwind:
Oh, boy. Well, my kids are adults now. I'm really lucky. Obviously, anybody who's a parent knows it's something you can never really be prepared for. It's something you have to dive into, and I always tell people, it's like nobody's taught you how to swim and you just have to tread water. We have a problem in our society and that if we compare our society to many others, it's a huge strength. There's individualism. You can do anything. The individual can do anything. It's all about the individual. And in other societies, it's more about the fabric of society. It's not about the individual, it's about society. There should be some happy medium though, because it can't all be on the individual family. There's too much there. And so, in our society, we don't have enough resources. We don't have enough put into these social services and educational services.
And what we don't recognize is that, as you said before, the payoff is not just to those who are getting it. The payoff is so broad in terms of increasing the quality of life for everybody around there, reducing the long-term costs, so that money instead of being spent at a kind of phase where somebody's in really bad shape, is spent early and creates a family that's able to be more productive contributor to society, as well as an individual who can be. And that has enormous benefits in the long run, and we just don't recognize that. It is kind of unfortunate, and many countries do a lot better than we do in terms of providing those types of necessary services. Even things like childcare, right?

Dr. Correa:
Yeah, and I think that comes back even to something that Tola herself expressed, really describing the importance of her community and religious community, and her family in supporting her and Kevin, and their children, but also sometimes the challenges when it's the expectation on them as individuals and in the family to address their needs. But thank you so much, Dan, for taking the time, joining our listeners, and for really all the work that you're doing to really deeply understand the impacts and the genetics of the health of autism spectrum disorders.

Dr. Geschwind:
Well, thank you, Daniel, for spending the time on this important issue, taking your time out to really highlight many of these issues and helping me articulate them better. I appreciate it.

Dr. Correa:
Thank you again for joining us today on the Brain & Life Podcast. Follow and subscribe to this podcast so you don't miss our weekly episodes. You can also sign up to receive the Brain & Life magazine for free at brainandlife.org.

Dr. Peters:
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Dr. Correa:
You can also find that information in our show notes, and you can follow Katie and me, and the Brain & Life Magazine on many of your preferred social media channels. We are your hosts, Dr. Daniel Correa, connecting with you from New York City and online at NeuroDrCorrea

Dr. Peters:
And Dr. Katie Peters joining you from Durham, North Carolina, and online at KatiePetersMDPhD.

Dr. Correa:
Most importantly, thank you and all of our community members that trust us with their health, and everyone living with neurologic conditions.

Dr. Peters:
We hope together we can take steps to better brain health and each thrive with our own abilities every day.

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Finding Joy with Parent and Autism Advocate Tola Andu

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