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

## TL;DR

This study explores brain activity and cognitive abilities in patients with Ochoa Syndrome during a smiling task using fMRI and cognitive tests.

## Contribution

The study provides the first functional neuroimaging data on voluntary smiling in Ochoa Syndrome patients.

## Key findings

- Smiling in UFS patients activated brain regions similar to those in healthy individuals, including the supplementary motor area and insula.
- Cognitive testing revealed Full-Scale IQ scores ranging from 50 to 74, indicating mild intellectual disability or borderline functioning.
- Despite similar brain activation patterns, cognitive performance was limited in the UFS patient sample.

## 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.