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

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DOI: 10.4236/crcm.2013.22027    3,737 Downloads   5,407 Views   Citations

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.

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Pizzamiglio, M. , Volpe, C. and Piccardi, L. (2013) A longitudinal study in atypical Cri-du chat profile: A single case report. Case Reports in Clinical Medicine, 2, 100-107. doi: 10.4236/crcm.2013.22027.

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