An Ehlers-Danlos-like Phenotype Identified in Women with Fragile X Premutation
August 6th, 2026
Our new paper in the Journal of Medical Genetics reports an enrichment of Ehlers-Danlos-like features in women with the FMR1 premutation, including increased joint hypermobility and other connective tissue manifestations. These findings expand the recognized clinical phenotype associated with the FMR1 premutation and suggest that connective tissue involvement may be an important, underrecognized component of fragile X premutation-associated conditions.
Rise in Autism Diagnosis in Females Following the Pandemic
July 22nd, 2026
Our new paper in JAMA Psychiatry dropped today. In it, we report that the rise in autism diagnosis in the last decade appears to be mainly driven by increased diagnosis in females, including adult women.
This is an exciting area of research as it shows that female diagnosis is indeed slowly catching up to what was traditionally considered a very male-skewed neurotype.
While we don't know what exactly are the factors driving these changes, one intriguing possibility is social media as a source of education amongst autistic people and their families, prompting more people to actively seek diagnosis. We hope to study this question more in future!
This work was a fantastic collaboration between Saint Louis University's Psychiatry and Neurology departments.
Our Paper Further Exploring the Roles of Neandertal DNA in Autism
December 15, 2025
As a follow-up to our earlier paper in Molecular Psychiatry, in our new paper in BioEssays, we discuss both "pushing" and "pulling" factors that may be simulataneously beneficial and mildly harmful, leading to low but consistent levels of Neandertal DNA in the human genome, some of which may increase the likelihood that a person develops autism.
Other Selected Publications:
Full Citation: Pauly, R., Johnson, L., Feltus, F. A., & Casanova, E. L. (2024). Enrichment of a subset of Neanderthal polymorphisms in autistic probands and siblings. Molecular Psychiatry, 29(11), 3452-3461. https://www.nature.com/articles/s41380-024-02593-7
Full Citation: Casanova, E. L., & Feltus, F. A. (2025, January 21). How Neandertal DNA may affect the way we think. Scientific American. https://www.scientificamerican.com/article/how-neandertal-dna-may-affect-the-way-we-think/
Full Citation: Casanova, E. L. (2025). The molecular basis of punctuated equilibria: the roles of developmental genes in stasis and speciation. Paleobiology, 51(4), 753-764. https://www.cambridge.org/core/journals/paleobiology/article/molecular-basis-of-punctuated-equilibria-the-roles-of-developmental-genes-in-stasis-and-speciation/F1FBAB821543FDFC2984237837EF323B
Full Citation: Casanova, E. L. (2023). Ancient roots: A Cambrian explosion of autism susceptibility genes. Autism Research, 16(8), 1480-1487. https://onlinelibrary.wiley.com/doi/abs/10.1002/aur.2984?casa_token=cDoCkqp1kyQAAAAA:ljJne2Yq7-Q87nJs7m49JTY_RUh_HR_7NnKbSTZfxbMUvggsNHyF2fDYkuw78KKzEkX35NLsAQTimzA
Full Citation: Tassanakijpanich, N., McKenzie, F. J., McLennan, Y. A., Makhoul, E., Tassone, F., Jasoliya, M. J., ... & Casanova, E. L. (2022). Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series. Journal of medical genetics, 59(7), 687-690. https://jmg.bmj.com/content/59/7/687.abstract
Full Citation: Casanova, E. L., Baeza-Velasco, C., Buchanan, C. B., & Casanova, M. F. (2020). The relationship between autism and ehlers-danlos syndromes/hypermobility spectrum disorders. Journal of personalized medicine, 10(4), 260. https://www.mdpi.com/2075-4426/10/4/260