Cri du Chat Syndrome — Research Summary
Printed from RareWays (rareways.com.au) on 10 June 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Communicative Development Inventories (CDIs) in etiologically diverse developmental conditions: A systematic review.
Laudańska Zuzanna et al. — Research in developmental disabilities (1 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41707555/
- 2.
When two syndromes overlap: The intersection of Cri du Chat and Goldenhar syndromes in an infant
Anupama Janardhanan et al. — Indian Journal of Ophthalmology - Case Reports (1 January 2026)
https://doi.org/10.4103/ijo.ijo_145_25
- 3.
Oral and craniofacial features associated with Cri du Chat Syndrome: a systematic review
Paolo Boffano et al. — Otorhinolaryngology (1 November 2025)
https://doi.org/10.23736/s2724-6302.25.02583-6
- 4.
Communicative Development Inventories (CDIs) in Etiologically Diverse Developmental Conditions: A systematic Review
Zuzanna Laudańska et al. (28 October 2025)
https://doi.org/10.31234/osf.io/wm4re_v1
- 5.
The Effect of Telerehabilitation Supported Occupational Therapy Intervention on Participation and Occupational Performance in Rare Diseases
İbrahim Erarslan et al. — Fenerbahçe Üniversitesi Sağlık Bilimleri Dergisi (29 August 2025)
https://doi.org/10.56061/fbujohs.1666184
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Cri du Chat Syndrome
Cri du Chat syndrome is caused by a deletion on the short arm of chromosome 5. It is characterised by a distinctive high-pitched cry in infancy, intellectual disability, developmental delays, and distinctive facial features. Early intervention with speech and occupational therapy can significantly improve outcomes.
Most Recent Research
The MacArthur-Bates Communicative Development Inventories (CDIs) are widely used parent-report tools for assessing early language development, including gesture use, expressive and receptive vocabulary, and early morpho-syntactic capacities. While originally developed for typically developing children aged 8 up to 36 months and aimed at detecting developmental language disorder, CDIs have been increasingly applied in studies of neurodevelopmental and genetic conditions, where language development often diverges from typical trajectories. In this review, we synthesize literature on the use of CDIs in a range of clinical populations, including autism, Down syndrome, Williams syndrome, cerebral palsy, Angelman syndrome, DDX3X syndrome, 5p deletion syndrome, fragile X syndrome, and others. We highlight condition-specific patterns of expressive vocabulary development, discuss the value of longitudinal data collection using CDIs, and visualize age trends that capture change and variability across developmental pathways. Particular attention is given to methodological considerations such as cross-linguistic adaptations, reporting biases, and the limitations of single-timepoint assessments. While CDIs show promise for tracking language trajectories and informing early support, challenges remain in ensuring their reliability, validity, and suitability as screening tools. We conclude by emphasizing the importance of longitudinal, cross-condition, and cross-cultural approaches to better understand atypical language development and to improve the utility of CDIs in both research and applied settings.
Common Questions
What is Cri du Chat Syndrome?
Cri du Chat syndrome is caused by a deletion on the short arm of chromosome 5. It is characterised by a distinctive high-pitched cry in infancy, intellectual disability, developmental delays, and distinctive facial features. Early intervention with speech and occupational therapy can significantly improve outcomes.
How many clinical trials are available for Cri du Chat Syndrome?
RareWays currently indexes 1 clinical trial for Cri du Chat Syndrome, of which 1 is actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for Cri du Chat Syndrome come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.
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This information is for general awareness only.
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