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Cerruti Mainardi, P., Perfumo, C., Calì, A., Coucorde, G., Pastore, G., Cavani, S., Zara, F., Overhauser, J., Pierluigi, M. and Dagna Bricarelli, F. (2001) Clinical and molecular characterization of 80 patients with 5p deletion: Genotype-phenotype correlation. Journal of Medical Genetics, 38, 417-420.

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

  AUTHORS: Maria Rosa Pizzamiglio, Cristino Volpe, Laura Piccardi

  KEYWORDS: Cat Cry Syndrome; 5p-Syndrome; Narrative Discourse; Longitudinal Study; Mental Delay

  JOURNAL NAME: Case Reports in Clinical Medicine, Vol.2 No.2, May 9, 2013

  ABSTRACT: 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 Italian 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 linguistic 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 comprehension and production. Differently, her grammatical skills (i.e. comprehension and production) were somewhat defective. Conclusion: The FS’s case, due to her moderate mental delay and her preserved linguistic skills, allowed investigating some aspects of this syndrome never explored before.