Genomic Repeat: Slipping Through the Spectrum - Rethinking the Divide in Autism Diagnoses

This episode was originally released on November 5, 2024

Dr. Hannah Belcher was already studying autism she found out she herself was Autistic. Getting her diagnosis felt like everything suddenly clicked… but why did it take so long to get answers?

In this episode, Hannah shares her journey and talks about how many Autistic people, especially women, learn to mask their true selves to fit in– causing them to slip through the diagnostic cracks. Then, we invite Dr. John Constantino to break down the genetic underpinnings of Autism Spectrum Disoder and related conditions like ADHD—and how science is shaking up the genomic picture of what we thought we knew about this male-female bias.

From outdated theories to “refrigerator mothers,” join hosts Dr. Kaylee Byers and Dr. Rackeb Tesfaye as they comb through the tangled web of sex bias and ask whether our current methods of studying neurodiversity is actually addressing the questions the people with ASD want answered?

A Note on Language:

When talking about Autism - semantics matter. So, it’s important to recognize the nuances of language. Many people in the Autism community prefer identity-first language, such as "Autistic person," as it centers Autism as a core part of their identity. Others, however, may prefer person-first language, like "person with Autism," which places the individual before the condition. We’ve used both forms of language in this episode, and we encourage respecting individual preferences by asking what each person is most comfortable with. For more on this, check out resources like the National Institutes of Health’s guide on writing respectfully about identity and the Autistic Self Advocacy Network’s explanation of identity-first language.

Additionally, when we refer to ‘Autism risk’ in the context of academic research, it typically means an increased genetic likelihood of receiving an Autism diagnosis. However, we recognize that "risk" can imply a negative connotation (which we do not support.) Instead, we aim to discuss Autism in ways that honour the neurodiversity of all individuals.

Lastly, regarding sex differences in Autism diagnoses, in this episode, we’re talking specifically about sex assigned at birth. Although we mention gender, we want to be clear that we aren’t exploring how Autism diagnoses may vary by gender identity—that area remains understudied! So, our conversation is focused on differences between males and females, and we look forward to seeing more research on the richly complex interactions between gender identitiy and neurodiversity in the future.

Highlights:

(6:32) Growing up undiagnosed

(18:52) The genetic underpinnings of Autism and related neurodiverse conditions

(22:20) Debunking the “female protective effect”

(26:37) A biased assessment

Resources:

1. ‘Taking off the Mask: A Practical Guide for Managing Autistic Camouflaging and Mental Health‘ - Dr. Hannah Belcher

2. Inherited Risk for Autism Through Maternal and Paternal Lineage - National Institute of Health

3. 'Decade of data dents idea of a ‘female protective effect’- The Transmitter

4. How ADHD Gender Bias is Slowly, Steadily Harming Females - ADDitude Mag

5. Refrigerator Mothers - A Discredited Cause Of Autism- Autism Help

6. Study challenges idea that autism is caused by an overly masculine brain- Science.org

7. Autism Spectrum Conditions In Women: Diagnosis, Mental Health, And The Role Of Camouflaging- Research Gate