Cri du Chat Syndrome — Research Summary
Printed from RareWays (rareways.com.au) on 26 July 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Sleep disorders in children with Cri du Chat syndrome: A questionnaire-based study.
Ferretti Alessandro et al. — Sleep medicine (1 August 2026)
https://pubmed.ncbi.nlm.nih.gov/42055499/
- 2.
Beyond "low tone". What do the General Movements Assessment and Motor Optimality Score tell us about infants with developmental central hypotonia? A scoping review.
Hidalgo-Robles Álvaro et al. — Early human development (14 May 2026)
https://pubmed.ncbi.nlm.nih.gov/42143978/
- 3.
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/
- 4.
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
- 5.
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
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
STUDY OBJECTIVES: Data on sleep disorders in Cri du Chat (CdC) syndrome are limited; this study examines their prevalence, clinical features, and age-related patterns in pediatric patients. METHODS: Caregivers of children with CdC syndrome (<18 years), recruited through the Italian CdC Children's Association, completed a structured survey. The questionnaire included four validated sleep assessment tools: the Child's Sleep Habits Questionnaire (CSHQ), the Pediatric Insomnia Severity Index (PISI), the Epworth Sleepiness Scale for Children and Adolescents (ESS-CHAD), and the Sleep Questionnaire for Children with Severe Psychomotor Impairment (SNAKE). Analyses were conducted on the overall sample and stratified by age groups (0-6, 7-12, and 13-17 years). RESULTS: Fifty-one participants were included (median age 10 years; IQR 5-14 years). Pathological CSHQ scores were observed in all participants. Younger children exhibited significantly greater insomnia severity on the PISI and higher SNAKE scores for sleep maintenance disorders and daytime sleepiness (p < 0.05). Daytime somnolence assessed by ESS-CHAD was generally mild and showed a decreasing trend with increasing age. Severe intellectual disability was significantly associated with sleep-related arousal and breathing disorders (p = 0.016) and with daytime sleepiness (p = 0.032). Overall, 51% of patients had received pharmacological treatment at least once, with melatonin being the most frequently used medication and reported as effective in 68% of treated cases. CONCLUSIONS: Sleep disturbances are highly prevalent across all pediatric age groups in CdC syndrome and present distinct age-related patterns. Routine screening using standardized questionnaires may facilitate early identification and tailored interventions. CLINICAL TRIAL: The study was approved by the Ethical Committee (Comitato Etico Territoriale Lazio Area 1; study number 7980, Prot. 0481/2025). STATEMENT OF SIGNIFICANCE: Sleep disturbances represent an underrecognized but clinically relevant aspect of Cri du Chat syndrome. This study provides one of the first systematic characterizations of sleep problems across pediatric age groups in this rare neurodevelopmental condition, highlighting age-related patterns and associations with cognitive severity. By integrating multiple caregiver-reported sleep measures, the findings underscore the pervasive impact of sleep disturbances on daily functioning and well-being. The results emphasize the need for routine sleep assessment in clinical practice and support the development of tailored, age-specific management strategies. Future research should focus on longitudinal trajectories, objective sleep measures, and optimized therapeutic approaches to improve outcomes in this population.
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.
Get research updates
Monthly email when new findings are published for Cri du Chat Syndrome.
No spam. Unsubscribe any time. Not medical advice.
This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.