Neuropsychological study in 19 French patients with White–Sutton syndrome and POGZ mutations

This study assessed cognitive and behavioral profiles in 19 French individuals with White–Sutton syndrome (POGZ mutations). Background: White–Sutton syndrome, due to POGZ mutations, is known for developmental delay and intellectual disability, but detailed neuropsychological characterization is limited. Methods: Standardized neuropsychological tests and behavioral questionnaires were administered to participants (age range: toddlers to adults). Results: All patients had intellectual disability (ranging mild to severe) and speech delays. Autistic features or ASD diagnoses were present in a substantial subset. Attention deficits and hyperactivity were frequently observed in childhood. Notably, a relative strength in visual–spatial skills contrasted with more affected language skills in several individuals. Conclusion: The neuropsychological profile of POGZ-related White–Sutton syndrome often includes intellectual disability with more pronounced language impairment but better visuo-spatial abilities, alongside a high prevalence of ASD-related behaviors. These findings help refine counseling and interventions for patients by anticipating cognitive strengths and weaknesses associated with POGZ mutations.