Neuroimaging Findings and Neurocognitive Features of Patients with Ochoa Syndrome (Urofacial Syndrome)-A Prospective Experimental Study.

Abstract

Background/Objectives: To characterize functional brain activation during smiling and to assess cognitive profiles in patients with Ochoa (Urofacial) syndrome (UFS). Materials and Methods: In a block-design fMRI paradigm, participants alternated between imitating a smiling emoji and viewing a fixation cross. Images were preprocessed and analyzed in SPM12; Smile > Rest contrasts were tested with a voxelwise threshold of p < 0.001 (uncorrected). Cognitive levels were assessed using age-appropriate Wechsler scales administered by certified psychologists. Results: Six patients (mean age 20 years; 50% female) with genetically/clinically confirmed UFS were included. Smile > Rest elicited robust activation in the supplementary motor area (highest Z = 4.70), insula (largest cluster), dorsal anterior cingulate, primary motor cortex, and frontal eye fields, among others. Five patients completed cognitive testing; Full-Scale IQ ranged 50-74, consistent with mild intellectual disability to borderline intellectual functioning. Conclusions: During voluntary smiling, UFS patients exhibit activation patterns that overlap extensively with those reported in healthy cohorts. Nevertheless, cognitive performance was limited in this sample. Given the rarity of UFS and the small cohort, findings should be interpreted cautiously and validated in multicenter studies.