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

• 作者: Cristino Volpe Laura Piccardi Maria Rosa Pizzamiglio
• 来源期刊: 临床医学病理报告(英文)
• 学科: 医学
• 关键词: Cat CRY SYNDROME 5p-Syndrome NARRATIVE DISCOURSE Longitudinal Study Mental Delay
• 年，卷（期）: 2013,（2）
• 页码范围: 100-107
• 页数: 8页
• 分类号: R73

摘要

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.