Enhancing Communication and Swallowing Skills in Children with Cri Du Chat Syndrome: A Comprehensive Speech Therapy Guide
<b>Background:</b> 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 lar...
Saved in:
| Main Authors: | , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2024-12-01
|
| Series: | Children |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2227-9067/11/12/1526 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850242246300925952 |
|---|---|
| author | Soultana Papadopoulou Areti Anagnostopoulou Dimitra V. Katsarou Kalliopi Megari Efthymia Efthymiou Alexandros Argyriadis Georgios Kougioumtzis Maria Theodoratou Maria Sofologi Agathi Argyriadi Efterpi Pavlidou Eugenia I. Toki |
| author_facet | Soultana Papadopoulou Areti Anagnostopoulou Dimitra V. Katsarou Kalliopi Megari Efthymia Efthymiou Alexandros Argyriadis Georgios Kougioumtzis Maria Theodoratou Maria Sofologi Agathi Argyriadi Efterpi Pavlidou Eugenia I. Toki |
| author_sort | Soultana Papadopoulou |
| collection | DOAJ |
| description | <b>Background:</b> 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. <b>Objective:</b> 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. <b>Methods:</b> 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. <b>Results:</b> 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. <b>Conclusions:</b> 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. |
| format | Article |
| id | doaj-art-2fddd848cf5342d48d53d1a9be20ec62 |
| institution | OA Journals |
| issn | 2227-9067 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Children |
| spelling | doaj-art-2fddd848cf5342d48d53d1a9be20ec622025-08-20T02:00:19ZengMDPI AGChildren2227-90672024-12-011112152610.3390/children11121526Enhancing Communication and Swallowing Skills in Children with Cri Du Chat Syndrome: A Comprehensive Speech Therapy GuideSoultana Papadopoulou0Areti Anagnostopoulou1Dimitra V. Katsarou2Kalliopi Megari3Efthymia Efthymiou4Alexandros Argyriadis5Georgios Kougioumtzis6Maria Theodoratou7Maria Sofologi8Agathi Argyriadi9Efterpi Pavlidou10Eugenia I. Toki11Department of Speech Therapy, School of Health Sciences, University of Ioannina, 45500 Ioannina, GreeceDepartment of Special Education, Hellenic Open University, 26335 Patra, GreeceDepartment of Preschool Education Sciences and Educational Design, University of the Aegean, 85132 Rhodes, GreeceCity College, University of York, Europe Campus, 54622 Thessaloniki, GreeceCollege of Interdisciplinary Studies, Zayed University, Abu Dhabi 144534, United Arab EmiratesDepartment of Nursing, School of Health Sciences, Frederick University, Limassol 3080, CyprusDepartment of Turkish Studies and Modern Asian Studies, Faculty of Economic and Political Sciences, National and Kapodistrian, University of Athens, 10559 Athens, GreeceDepartment of Psychology, School of Health Sciences, Neapolis University, Pafos 8042, CyprusDepartment of Early Childhood Education, School of Education, University of Ioannina, 45110 Ioannina, GreeceDepartment of Psychology and Social Sciences, Frederick University, Limassol 3080, CyprusDepartment of Speech Therapy, School of Health Sciences, University of Ioannina, 45500 Ioannina, GreeceDepartment of Speech Therapy, School of Health Sciences, University of Ioannina, 45500 Ioannina, Greece<b>Background:</b> 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. <b>Objective:</b> 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. <b>Methods:</b> 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. <b>Results:</b> 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. <b>Conclusions:</b> 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.https://www.mdpi.com/2227-9067/11/12/1526Cri du Chat Syndrome (CdCS)chromosome 5 deletionspeech and language therapydysphagiacognitive impairment |
| spellingShingle | Soultana Papadopoulou Areti Anagnostopoulou Dimitra V. Katsarou Kalliopi Megari Efthymia Efthymiou Alexandros Argyriadis Georgios Kougioumtzis Maria Theodoratou Maria Sofologi Agathi Argyriadi Efterpi Pavlidou Eugenia I. Toki Enhancing Communication and Swallowing Skills in Children with Cri Du Chat Syndrome: A Comprehensive Speech Therapy Guide Children Cri du Chat Syndrome (CdCS) chromosome 5 deletion speech and language therapy dysphagia cognitive impairment |
| title | Enhancing Communication and Swallowing Skills in Children with Cri Du Chat Syndrome: A Comprehensive Speech Therapy Guide |
| title_full | Enhancing Communication and Swallowing Skills in Children with Cri Du Chat Syndrome: A Comprehensive Speech Therapy Guide |
| title_fullStr | Enhancing Communication and Swallowing Skills in Children with Cri Du Chat Syndrome: A Comprehensive Speech Therapy Guide |
| title_full_unstemmed | Enhancing Communication and Swallowing Skills in Children with Cri Du Chat Syndrome: A Comprehensive Speech Therapy Guide |
| title_short | Enhancing Communication and Swallowing Skills in Children with Cri Du Chat Syndrome: A Comprehensive Speech Therapy Guide |
| title_sort | enhancing communication and swallowing skills in children with cri du chat syndrome a comprehensive speech therapy guide |
| topic | Cri du Chat Syndrome (CdCS) chromosome 5 deletion speech and language therapy dysphagia cognitive impairment |
| url | https://www.mdpi.com/2227-9067/11/12/1526 |
| work_keys_str_mv | AT soultanapapadopoulou enhancingcommunicationandswallowingskillsinchildrenwithcriduchatsyndromeacomprehensivespeechtherapyguide AT aretianagnostopoulou enhancingcommunicationandswallowingskillsinchildrenwithcriduchatsyndromeacomprehensivespeechtherapyguide AT dimitravkatsarou enhancingcommunicationandswallowingskillsinchildrenwithcriduchatsyndromeacomprehensivespeechtherapyguide AT kalliopimegari enhancingcommunicationandswallowingskillsinchildrenwithcriduchatsyndromeacomprehensivespeechtherapyguide AT efthymiaefthymiou enhancingcommunicationandswallowingskillsinchildrenwithcriduchatsyndromeacomprehensivespeechtherapyguide AT alexandrosargyriadis enhancingcommunicationandswallowingskillsinchildrenwithcriduchatsyndromeacomprehensivespeechtherapyguide AT georgioskougioumtzis enhancingcommunicationandswallowingskillsinchildrenwithcriduchatsyndromeacomprehensivespeechtherapyguide AT mariatheodoratou enhancingcommunicationandswallowingskillsinchildrenwithcriduchatsyndromeacomprehensivespeechtherapyguide AT mariasofologi enhancingcommunicationandswallowingskillsinchildrenwithcriduchatsyndromeacomprehensivespeechtherapyguide AT agathiargyriadi enhancingcommunicationandswallowingskillsinchildrenwithcriduchatsyndromeacomprehensivespeechtherapyguide AT efterpipavlidou enhancingcommunicationandswallowingskillsinchildrenwithcriduchatsyndromeacomprehensivespeechtherapyguide AT eugeniaitoki enhancingcommunicationandswallowingskillsinchildrenwithcriduchatsyndromeacomprehensivespeechtherapyguide |