Cri du Chat Syndrome — Research Summary
Printed from RareWays (rareways.com.au) on 5 April 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.
Cri du Chat Syndrome: a case study
Jéssica Sánchez Rodríguez et al. — International Journal of Neurology (21 October 2025)
https://doi.org/10.62486/ijn2025235
Clinical Trials — Australian Sites
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
Completed — Natera, Inc.
https://clinicaltrials.gov/study/NCT02381457
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.
This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.