Papadopoulou Soultana, Anagnostopoulou Areti, Katsarou Dimitra V, Megari Kalliopi, Efthymiou Efthymia, Argyriadis Alexandros, Kougioumtzis Georgios, Theodoratou Maria, Sofologi Maria, Argyriadi Agathi, Pavlidou Efterpi, Toki Eugenia I
Department of Speech Therapy, School of Health Sciences, University of Ioannina, 45500 Ioannina, Greece.
Department of Special Education, Hellenic Open University, 26335 Patra, Greece.
Children (Basel). 2024 Dec 16;11(12):1526. doi: 10.3390/children11121526.
A specific deletion on the short arm of chromosome 5 (5p) is the hallmark of the rare genetic syndrome called Cri du Chat Syndrome (CdCS). It causes severe difficulty with swallowing, speech, motor skills, and cognitive deficiencies. These arise from characteristic laryngeal abnormalities and oral-motor dysfunctions. This study aims to investigate the effectiveness of speech and language intervention in addressing the multifaceted challenges of CdCS, including speech and language impairments, feeding difficulties, and social communication deficits. A narrative review was conducted to synthesize existing studies from the last 35 years on therapeutic interventions for individuals with CdCS. This review focused on interventions targeting speech, language, and swallowing therapy. Comprehensive searches were performed in the PubMed and Scopus databases using descriptors such as "Cri du Chat", "swallowing disorders", "speech disorders", "speech and language disorders", and "speech and language therapy." From the identified records, 40 peer-reviewed English-language publications that addressed speech, language, and swallowing interventions were selected based on relevance and inclusion criteria. Data extraction was performed independently by four reviewers, working in two teams. Any disagreements between the teams were resolved through discussion with an independent researcher to ensure reliability and minimize bias. The findings demonstrate that speech and language therapy (SLT) significantly enhances speech clarity, articulation, and oral-motor coordination. Augmentative communication systems effectively bridge gaps in nonverbal communication, fostering improved social interaction. Specific interventions reduce aspiration risks and improve feeding safety, enhancing the overall quality of life. Early multidisciplinary approaches and tailored therapeutic strategies are key to maximizing the benefits of SLT. SLT is crucial for improving communication, swallowing, and social integration in individuals with CdCS. Regular early intervention involving individualized programs and family participation is recommended to achieve optimal outcomes. Further research is needed to evaluate long-term effects and develop cultural and technologically adaptable therapies.
5号染色体短臂(5p)上的特定缺失是一种名为猫叫综合征(CdCS)的罕见遗传综合征的标志。它会导致吞咽、言语、运动技能方面的严重困难以及认知缺陷。这些问题源于特征性的喉部异常和口部运动功能障碍。本研究旨在调查言语和语言干预在应对CdCS多方面挑战中的有效性,这些挑战包括言语和语言障碍、喂养困难以及社交沟通缺陷。进行了一项叙述性综述,以综合过去35年中关于针对CdCS患者的治疗干预的现有研究。该综述聚焦于针对言语、语言和吞咽治疗的干预措施。使用“猫叫综合征”“吞咽障碍”“言语障碍”“言语和语言障碍”以及“言语和语言治疗”等描述词,在PubMed和Scopus数据库中进行了全面检索。从检索到的记录中,根据相关性和纳入标准,选择了40篇经过同行评审的英文出版物,这些出版物涉及言语、语言和吞咽干预。数据提取由四名评审员分两个小组独立进行。小组之间的任何分歧都通过与一名独立研究人员讨论来解决,以确保可靠性并尽量减少偏差。研究结果表明,言语和语言治疗(SLT)显著提高了言语清晰度、发音和口部运动协调性。辅助沟通系统有效地弥补了非言语沟通中的差距,促进了社交互动的改善。特定干预措施降低了误吸风险,提高了喂养安全性,提升了整体生活质量。早期多学科方法和量身定制的治疗策略是最大化SLT益处的关键。SLT对于改善CdCS患者的沟通、吞咽和社会融合至关重要。建议进行定期的早期干预,包括个性化方案和家庭参与,以实现最佳效果。需要进一步研究来评估长期效果,并开发具有文化和技术适应性的疗法。