A longitudinal study in atypical Cri-du chat profile: A single case report

Background: Cri-du-Chat Syndrome (CdCS) is a rare genetic disorder characterized by a severe mental delay, minimal verbal abilities and severe learning difficulties. Methods: Here, we report two neuropsychological assessments of an Ital- ian girl (FS) with CdCS who was affected by a moderate mental delay. The first assessment was made at 2.3 years and second at 6.5 years. Results: Her cognitive profile was characterized by a discrepancy between social-communicative and visual-motor skills. Specifically, her linguis- tic skills were better than her ability to copy a drawing or play with a set of building blocks. FS showed good lexical competence in both com- prehension and production. Differently, her gram- matical skills (i.e. comprehension and produc- tion) were somewhat defective. Conclusion: The FS’s case, due to her moderate mental delay and her preserved linguistic skills, allowed investi- gating some aspects of this syndrome never explored before.