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.