Skip to main content
. 2021 Dec 29;94(4):623–635.

Table 3. An Overview of the Research Items.

Author Type of Study Purpose/Topic Subjects Key Findings
Dai et al. Case-control human trial by comparing cohorts. -Basal OT levels are higher in WS.
-An increase in basal OT is related to social function.
-WS may cause exaggerated OT release to emotional stimuli.
-WS cohort = 13 individuals (7 females aged 22–42, and 6 males aged 19–38).
-Typical controls = 9 individuals (4 females aged 20–45, 4 males aged 19–40).
-The median basal OT level is 3-times higher in WS.
-OT levels are higher in WS at all-time points during interventions.
-Approachability correlates significantly with basal OT.
-Maladaptive behaviors significantly negatively correlate with basal OT levels.
-Basal OT does not correlate with FSIQ in WS.
-Changes in OT, to emotional stimulus exhibit both greater variability and greater increases in WS.
Kimura et al. Case-control human trial by comparison of cohorts and existing data. -Show irregular OXTR levels in WS.
-Investigate OXTR expression in WS compared to healthy controls.
1. For gene expression analysis:
-WS cohort = 15 patients TC=15 age–sex–race balanced Japanese controls.
2. For DNA methylation analysis:
-Set A: WS cohort = 34 patients TC = 34 age–sex–race balanced Japanese controls
-Set B: WS cohort = 20 pediatric patients TC = 15 age-balanced controls of European origin.
-WS patients showed significantly lower expression of OXTR. -No significant correlation between the expression levels of OXTR and total SRS-T scores.
-OXTR expression was downregulated in WS compared to controls, although no clear correlation between expression levels and severity of social function was found.
-WS patients have significantly higher methylation at three CpG sites around the transcriptional start site.
-The methylation observed in the blood correlated with the brain. Three CpG sites (cg25140571, cg00247334, and cg17036624) were significantly correlated with the superior temporal gyrus.
Haas et al. Case-control human trial with comparison to existing patient data. -Show if the irregular expression of OXTR alters OT functioning in WS. -WS Cohort = 8 patients (mean age = 4.87 years; standard deviation = 2.10).
-Control Cohort = 9 age and sex-matched healthy individuals.
-WS subjects exhibited greater expression of OXTR.
-The variance between groups was statistically significant for OXTR expression.
-The abnormal function of the OT system in WS, may in part be influenced by overexpression of OXTR.
Nygaard et al. Case-control animal trial by comparing cohorts. -Compare blood OT levels of WS with the control group.
-Investigate whether OXTR expression differs in WS versus wild-type mice across the brain.
1. The cohort for blood OT test: WS = 13 mice, TC = 11 WT male mice from 8 independent litters.
2. The cohort to evaluate OXTR expression: WS = 14 mice (5 female, 9 male) TC = 22 (12 female, 10 male) mice from 11 independent litters.
-No significant differences in OT levels between genotypes.
-Measured areas of where OT has been shown to affect sociability or memory, no significant differences in OXTR binding between genotypes within regions of interest.