OTCohortMolecular autism2021

Genetic and morphological estimates of androgen exposure predict social deficits in multiple neurodevelopmental disorder cohorts.

Brooke G McKenna, Yongchao Huang, Kévin Vervier and 15 others

PMID 34108004

WHAT IT FOUND

Facial masculinity, but not finger ratio, was linked to autism, ADHD, and intellectual disability.

Genetic markers for higher testosterone and lower sex-hormone binding globulin predicted poorer social functioning, specifically fewer friends and less imaginative play.

Key findings

01Facial landmark masculinity was significantly associated with diagnoses of ADHD, ASD, and intellectual disability, while digit ratio was not associated with any neurodevelopmental disorder.

02Both facial and digit ratio masculinity measures were associated with parent-reported concerns about low social functioning, specifically regarding lack of friends and social activity.

03In a large replication cohort, genetic risk scores for higher testosterone and lower sex hormone binding globulin were associated with deficits in cooperative play and having friends.

STILL TO COME

How it was doneWhat they foundWhat it means for OTs

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What it does not show

The study did not directly measure hormone levels; it relied on genetic proxies and morphological features. The cross-sectional design prevents establishing causality between androgen exposure and social deficits. The sample was heavily skewed towards Caucasian individuals. The link between facial masculinity and NDDs was observed across multiple diagnoses, suggesting a broad risk factor rather than a disorder-specific marker.

Declared interests

The study was funded by the National Institute on Deafness and Other Communication Disorders, the National Institute of Mental Health, and the Simons Foundation.

The easy way to misread this

Do not interpret facial masculinity or finger ratios as diagnostic tools for individual patients. These are population-level statistical associations derived from complex genetic and morphological analyses, not clinical signs that can be used to diagnose autism or ADHD in a single person.

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