Exploring the Autism Cascade Hypothesis with Scientist Sinem Berthier

Hosts Paul and Gino sit down with scientist and independent researcher Nuriye Sinem Berthier. With a rich background in chemistry, pharmacology, genetics, and biochemistry, and personal experience as a parent navigating autism, Sinem offers a unique lens on child development, neurodiversity, and the microbiome.

She introduces her Autism Cascade Hypothesis, highlighting how early-life environmental factors—including birth method, feeding choices, and gut health—may influence neurodevelopment and a proposal that connects diet, immune function, and brain development. It’s not a proven theory, but it’s an example of how science is trying to map complex biological pathways rather than single causes.

To further explain, imagine a row of dominoes: a certain milk protein gets broken down into a peptide, which might affect the gut and the brain’s protective barrier, leading to inflammation, and — in some individuals — changes in brain development. That’s the ‘cascade’ this idea is trying to describe. It’s still hypothetical — a chain of maybes, not certainties — but it’s fascinating because it tries to connect dots across biology, diet, and development.

Autism is multi-factorial — genetic, neurodevelopmental, sensory, and environmental factors all intertwine. The Cascade Hypothesis is one of several emerging models that explore how biology and development might interact, especially early in life.

Understanding biology doesn’t mean we’re trying to ‘fix’ autism — it means learning more about how diverse brains develop. Insights from models like this could improve support, reduce distress, and honor neurodivergent experiences.

This hypothesis is an early-stage idea — not clinical advice or a proven model. It’s a thought experiment that may guide future research. As always, any medical or dietary changes should be based on peer-reviewed science and professional guidance.

How do we balance curiosity about emerging science with respect for lived experience? We’d love to hear your thoughts — send us your reflections at [e-mail]

Connect With Nuriye Sinem Berthier

LinkedIn: http://www.linkedin.com/in/sinem-berthier

Orcid Account: https://orcid.org/0009-0002-5840-7957

Journal Articles:

1. Proposing the Autism Cascade Hypothesis: A Novel Mechanistic Framework Linking Dietary Peptides, Neuroimmune Activation, and Developmental Timing. https://zenodo.org/records/17007271

2. Cascading Pathways in Autism: A New Clinical Lens on Early Pediatric Intervention. https://zenodo.org/records/17019400

Connect With Us

• Learn more about the Neurodiversity Voices Podcast: www.neurodiversityvoices.com

Episode Chapters

• 00:00 – Podcast Introduction
• 02:05 – Meet Sinem Berthier
• 03:13 – Shifting Paths: From Pharma to Independent Research
• 05:07 – Understanding the Autism Cascade Hypothesis
• 09:17 – Practical Steps for Families
• 10:21 – Common Misconceptions About Autism
• 11:05 – Bridging Science & Everyday Families
• 11:36 – Creating Le Fermentis
• 13:12 – Community & Cultural Awareness
• 14:20 – Empowering Parents
• 15:16 – Looking Ahead in Research
• 16:02 – Legacy & Impact
• 16:38 – Conclusion and Reflections

Disclaimer:

 The content provided in this podcast is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay seeking it because of something you have heard on this podcast.

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Episode Transcript

Paul Cruz (00:06):
Hello and welcome to the Neurodiversity Voices
podcast. I'm your host, PaulCruz, and I'm thrilled to have
you join me on this journey ofexploration, advocacy, and
celebration of neurodiversity.

Gino Akbari (00:19):
And I'm Gino Akbari. Together, we'll have
meaningful conversations, shareinspiring stories, and challenge
misconceptions aboutneurodiversity.

Paul Cruz (00:27):
This podcast is for everyone, whether you're
neurodivergent yourself, aneducator, a parent, or just
someone curious to learn more.We aim to amplify voices, foster
understanding and spark changein how we view and support
neurodiversity.

Gino Akbari (00:44):
We're so excited to have you as we celebrate the
beauty of diverse minds and worktoward a more inclusive future.

Paul Cruz (00:50):
So sit back, relax and let's get Today, we're
thrilled to introduce SinamBerthier, a scientist with a
background in chemistry andtraining in pharmacology,

(01:11):
genetics, and biochemistry.After working in pharmaceutical
marketing, she followed hercuriosity and personal
experiences into researchingautism, child development, and
the powerful the brain. She'slived and worked across
Istanbul, New York, Germany, andnow Leon, bringing a rich cross

(01:36):
cultural lens to her researchand community workshops. And
here's what makes thisconversation special. She's
blending deep science with reallife parenting and changing how
we think about earlydevelopment.
If you've ever wondered how tinychoices in a child's earliest

(01:56):
days can shape their future,you're in the right place. Let's
dive in. Sinam, welcome to thepodcast.

Sinem Berthier (02:07):
Hello. Thank you. Thanks for having me.

Gino Akbari (02:12):
We're so delighted to have you here. Your journey
from Istanbul to New York,Germany, and now Lyon is
remarkable. And it's inspiringhow you've woven your scientific
expertise with your ownexperiences as a parent to
reimagine how we approach autismand child development. I mean,
we can't wait to dive into yourstory. So what first drew you

(02:35):
from your background inchemistry and pharmaceuticals
into researching autism andchild development?

Sinem Berthier (02:42):
I come from a background of chemistry and
pharmaceuticals. My journeydoesn't end here. So when I
became a parent, when I became amother, I lived in a very
difficult experience because ofmy child getting diagnosed with
the autism symptoms. That wasthe turning point where I
decided to dive in and this iswhere I am today with my

(03:06):
hypothesis paper and I'm intoindependent research.

Paul Cruz (03:12):
You've lived in Istanbul, New York, Germany, and
now Lyon. How have those movesshaped your outlook on science
and community?

Sinem Berthier (03:22):
Well, it's actually very nice to see all
these differences and differentbeliefs and perspectives into
health. I can give you anexample, like neurodiversity can
be embraced in one culture andmay not be embraced in another
culture, may be seen as adisease or may be looked down
upon, not be respected. So itgives you a perspective that you

(03:45):
can have a distance to all thesebeliefs in acceptations of the
new ideas as well. And The USand Europe, they are very
different to new ideas. Ibelieve that it's a cultural
thing, not a personal thing.

Gino Akbari (04:02):
So what lessons or skills helped you make the leap
from pharmaceutical marketing toindependent research?

Sinem Berthier (04:09):
For the skills, I would say I come from a
marketing in pharmaceuticals andwithin my department I worked, I
had to work with a lot ofphysicians, with a lot of
medical advisors and I need tolearn to speak their language to
really be formally trained inorder to have a meaningful
conversation with them. Butindependent research, I would

(04:29):
say it's mostly intuition. Andwhere I stand today is
interdisciplinary. Because if Iwere working for an institute, I
would be limited by theexpectations of the institution
and I would be specialized in acertain topic. Whereas in this
case, in my case of autism, itlies interdisciplinary.

(04:49):
So it's between the disciplines.So you need to have some sort of
a distance from all thedisciplines to be able to see a
meaningful picture. So I wouldsay, I would not say is it a
skill, but it was a niceposition to be at for me.

Paul Cruz (05:07):
Could you walk us through the autism cascade
hypothesis in family friendlyterms?

Sinem Berthier (05:13):
Of course. In my hypothesis, the cascade, first I
defined the risk groups. Therisk groups are if the mother is
about the age of 35, has givenbirth in vaginal birth but a C
section and was not able to andcould not breastfeed and

(05:36):
therefore the baby had to getthe formula milk, that's mainly
cow milk. Mother, either themother or the baby had to use
antibiotics early on within thefirst month of delivery and no
skin to skin contact, so sterileenvironment. So these are the

(05:56):
risky and this is the group Iwould define as risky group.
And with this risky group thereis a problem with the digestion
of the babies. When they consumethe cow milk which the formula
milk, they have a problem withdigestion and the digestion is
not merely what we see today,very popular terms of lactose

(06:18):
and not lactose. It's not aboutthe lactose, it's about the
protein of the milk, which iscalled casing. So the casing has
got two types, A1 and in today'sformula and milk, there is
mostly A1 type of milk, which ifit's poorly digested, there is a
side product of this digestionprocess we would call it BCM7.

(06:41):
BCM7 is the beginning of thisbiological domino, so the
cascade.
So BCM7 crosses the barriers inthe baby, I would say. The
barriers are the first barrieris the gut barrier, which is
BCM7 is from the gut is absorbeddirectly into the blood

(07:02):
circulation. And the secondbarrier is the blood brain
barrier, which is the barrieractually that protects the
brain. So BCM7 disrupts bothbarriers. And when the blood
brain barrier is disrupted, weadd to this cascade the
vaccination timing in this veryvulnerable window.
So I would say in the first yearor minimum the first six months

(07:26):
is very, very critical. So inthe maturation of these
barriers, as well as in theserisky groups, these two barriers
are disrupted. So we're having afull blown autism here in this
according to my hypothesispaper. I just want to add a
little note to this which isvery important. So my hypothesis
is not really covering the, Iwould say, is related to the

(07:51):
rise in the number of autismcases that we have looked from
the year 2000 and on.
So there was autism before 2000sbut not very very frequent as of
today. So this hypothesis isbased on the environmental
factors and how they play informing an autism case. So this
is important to note.

Gino Akbari (08:15):
Yeah. I'm gonna so so what let me what you're
saying is that I'm an outsiderin all of this. So I'm gonna ask
you a question as an outsiderlearning about all this. So
autism could be environmental orgenetic. Is that true or false?

Sinem Berthier (08:31):
It's both. It's both. So today, we are not able
to prove that it's completelygenetical, but I was suspicious
this recent rise, this suddenrise in thirty years of time
cannot be genetical. So there isa genetic part of autism or the
autism that we see before thatwe have seen before the year

(08:52):
2000 was probably not reallyrelated to much of the
environmental factors as oftoday. This recent rise is very
suspicious.
That was the key point whichmade me dive into all these
studies, really. So I didn'twant to settle in because I was

(09:13):
really suspicious of this.

Gino Akbari (09:17):
So what practical steps in the first months of
life might support healthierdevelopmental outcomes?

Sinem Berthier (09:24):
Yeah. That's a very important question. And
this, of course, actually,they're not very difficult. So
if we're talking about if thechild is in this risk proof,
what can the parents do? Twothings.
They can take probioticsthemselves if the mother is
breastfeeding or the baby therecan take probiotics. It's
important to which probioticactually. Usually we recommend

(09:47):
as scientists a single strainprobiotics, not a really
cocktail type of probioticmixture. But single strain
bacteria, they are moreeffective and they are more
suitable for the babies, for theinfants. And the second thing
for the pediatricians actually,if they can delay the
vaccination timing, at leastmaybe they start the first

(10:07):
vaccine when the baby is sevenmonths old as opposed to when
the baby is two months old orthree months old.
So these two things, they arekey, very important.

Paul Cruz (10:21):
What common misconceptions about autism do
you most want to address?

Sinem Berthier (10:27):
That autism is always congenital and always
irreversible. That belief iscompletely powerless. So I
believe that there are somecases, there may be some cases,
which is not congenital andwhich may be reversible.

Gino Akbari (10:45):
That is incredibly amazing to hear. I haven't heard
that before, but I do, in my ownbeliefs, believe that there's
always a solution, but that weare just a tiny step away from
the right antidote to come upwith those solutions. And hence
why we have people like youdoing this kind of research. So
how do you make your workunderstandable and useful for

(11:09):
families without oversimplifyingit?

Sinem Berthier (11:11):
Well, I try to use less scientific words, and
that's first of all. And thesecond thing is that I explain
my story because it's thestories that count for people,
for parents. So it's not just touse academical terms because I'm
not into this for only academiccuriosity. Stories are important

(11:32):
for parents, I think.

Paul Cruz (11:36):
What inspired your Le Famanti project on fermented
foods and microbiome health?

Sinem Berthier (11:43):
Le Famanti is actually an initiative I have
just started. It's at the babystages. This is related to my
independent research project aswell. With Le Fermentis, I'm
creating workshops where we canimplement fermented foods in our
everyday culinary habits, whichis what we have forgotten

(12:07):
actually. So my I'm coming fromIstanbul.
So in in our Turkish cuisine, wehave many recipes with fermented
foods, which I haven't seen inUS and Europe, not really very
much except for the deliciouswine and the cheese in France,
of course. But for the children,the children can also benefit

(12:31):
from this fermented foods andit's important for their immune
system as well. It's not onlyfor we are talking about autism,
but the importance of fermentedfoods in our daily life is
crucial to how the immune systemis working properly. So this is
somehow forgotten. We're alwaysbombarded with messages that we

(12:52):
need to eat a healthy food,fresh fruits and vegetables, but
also fermented fruits andfermented vegetables, they are
also a big part in our everydaylife.
So the fermenter's mission isjust to reintroduce the things
that we have forgotten.

Gino Akbari (13:12):
When designing bilingual culturally inclusive
workshops, what challenges andopportunities have you found?

Sinem Berthier (13:19):
That's also a good question because when you
say bilingual, it's alsobicultural, it's multicultural.
Because there are some beliefsthat they say the bacteria, for
example, the term bacteria isbad. It has got a very bad
connotation. So we are used toinfections. Bacteria means

(13:40):
infection.
It means antibiotic. It means weneed to kill it. But there is
good bacteria in fermented foodsthat we need, and our health
depends on it, for example. Sothis is a negative cognition
that it's a cultural belief thatit's not good. And for example,
if something smells bad, weshould not eat it.

(14:02):
But there is a cheese in Francethat smells not so good, but
it's it's good to eat it, forexample. So it's really changing
from one culture to another.It's important to keep the
healthy distance and to keep thecuriosity to discover.

Paul Cruz (14:20):
What does real empowerment look like for
families navigating autismconcerns?

Sinem Berthier (14:27):
This is also very important because I was one
of those parents a couple ofyears ago. The first time I
remember very well when I, likeevery parent, I Googled this
situation, it was I was hopelessbecause all I could see was
there is no real cause, realknown cause, and therefore there

(14:47):
is no treatment. So this wasreally a nightmare for me. So
with this hypothesis, I wouldlike to empower the parents that
some of the autism cases may bereversible and to give them the
tools to let this cascade happenin the first place. This is also
for the pediatricians as well.
It's the parents and thepediatricians, they are the key

(15:09):
groups that I would like to haveaccess to.

Gino Akbari (15:15):
Which areas of neuroimmunomicrobium research
excite you most right now?

Sinem Berthier (15:22):
Right now, what I'm interested in is actually
there is an enzyme that'splaying a key role in the
cascade of autism, but also itplays a key role in immune
system, which is called DPP4.And DPP4's role in the immune
system is not very well known.This is kind of overlooked and

(15:44):
it is possible that DPP-four isplaying a big role in child
cancers as well. This is an areaI'm interested in to really dig
into the functions of DPP-fourin our system.

Paul Cruz (16:02):
And finally, Senem, what legacy do you hope your
work leaves for families,pediatricians and the
neurodiversity community?

Sinem Berthier (16:12):
Yeah, that's a beautiful question as well. So I
would like to empower theparents with hope, with the real
hope, scientific hope, andpediatricians to give them the
tools that they can reversethings from the very start where
they have all the opportunityand the neurodiversity, their

(16:32):
divergent community withrespect.

Gino Akbari (16:38):
Sanem, thank you so much for sharing your journey
with us today.

Sinem Berthier (16:41):
You're welcome.

Gino Akbari (16:42):
Yeah, absolutely. The way you blend deep science,
cultural insight and personalexperience is truly powerful.
And it gives so much hope tofamilies who are navigating
these early stages. It's been anabsolute honor and pleasure
having you on the podcast. Thankyou.

Sinem Berthier (17:00):
Thank you.

Paul Cruz (17:01):
Thank you, Sinem. To our listeners, please share this
episode if this conversationresonated with you. Don't forget
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Gino Akbari (17:22):
If you have any questions, ideas or stories
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We'd love to hear from you.

Paul Cruz (17:37):
Till next time. Take care, stay curious, and keep
celebrating the beauty ofdiverse minds.

Gino Akbari (17:44):
Thanks for listening to the neurodiversity
voices podcast.