An Exploratory Analysis on the 2D:4D Digit Ratio and Its Relationship with Social Responsiveness in Adults with Prader–Willi Syndrome

Abstract

Prader–Willi syndrome (PWS) is a genetic disorder produced by a lack of expression of paternally derived genes in the 15q11–13 region. Research has generally focused on its genetic and behavioral expression, but only a few studies have examined epigenetic influences. Prenatal testosterone or the maternal testosterone-to-estradiol ratio (MaTtEr) has been suggested to play an important role in the development of the ‘social brain’ during pregnancy. Some studies propose the 2D:4D digit ratio of the hand as an indirect MaTtEr measure. The relationship between social performance and MaTtEr has been studied in other neurodevelopmental conditions such as Autism Spectrum Disorder (ASD), but to our best knowledge, it has never been studied in PWS. Therefore, our study aims to clarify the possible existence of a relationship between social performance—as measured using the Social Responsiveness Scale (SRS)—and MaTtEr levels using the 2D:4D ratio. We found that, as a group, PWS individuals have shorter index and ring fingers than the control group, but no significant difference in the 2D:4D ratios. The 2D:4D ratio showed a correlation only with Restricted Interests and Repetitive Behavior Subscale, where a positive correlation only for male individuals with PWS was found. Considering only PWS with previous GH treatment during childhood/adolescence (PWS-GH), index and ring fingers did not show differences in length with the control group, but the 2D:4D ratio was significantly higher in the right or dominant hand compared to controls.

Does the 2d:4d ratio present a relationship with static strength indicators in elite paralympic power-lifting?

“…Another limitation of our study pertains to individuals with disabilities. Previous studies have shown that certain pathologies and disabilities can interfere with the 2D:4D ratio (Gámez et al, 2023), as well as psychiatric disorders (Fusar-Poli et al, 2021;Nieuwoudt et al, 2021;Paipa et al, 2018), and other medical conditions (Arazi et al, 2023). Additionally, our study only included male participants, and therefore, it remains unclear how these findings would generalize to female participants.…”