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Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
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Cri du Chat Syndrome: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Clinical and instrumental phenotyping of gait in subjects with Cri du Chat syndrome
Beatrice Agostini et al., Journal of NeuroEngineering and Rehabilitation (25 August 2026)
https://doi.org/10.1186/s12984-026-02123-2
- 2.
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/
- 3.
Prenatal diagnosis of a fetus with cri-du-chat syndrome accompanied by 18q duplication: a case description.
Song Jiawei et al., Quantitative imaging in medicine and surgery (1 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42433589/
- 4.
Sleep disorders in children with Cri du Chat syndrome: A questionnaire-based study
Alessandro Ferretti et al., Zurich Open Repository and Archive (University of Zurich) (26 June 2026)
https://doi.org/10.5167/uzh-434681
- 5.
Advancing genotype-phenotype analysis through 3D facial morphometry: insights from Cri-du-Chat syndrome.
Vanneste Michiel et al., Journal of medical genetics (20 January 2026)
https://pubmed.ncbi.nlm.nih.gov/41266135/
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
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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.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Most Recent Research
Abstract Background Cri du Chat syndrome (CdCS) is a rare genetic disorder characterized by disabling psychomotor and gait impairments. The aim of this study is to assess and characterize CdCS gait through a comprehensive and validated set of trunk acceleration-derived gait indexes by means of inertial gait analysis. Methods In this cross-sectional study, we enrolled 38 CdCS individuals (age 22.6 [18.4–26.0] years, 52.6% females) and 39 healthy subjects (HS) matched for age, sex and speed of gait. Besides the conventional spatio-temporal parameters we calculated: the harmonic ratio (HR, primary outcome), the largest Lyapunov exponent for short time-series (sLLE), the percent determinism in recurrence quantification analysis (RQA). Results Compared to HS, CdCS gait was characterized by lower HR (CdCS: 1.6 [1.4–1.7] vs. HS: 2.6 [2.4–2.7], p = 0.001), lower RQA ( p = 0.001) and higher sLLE ( p = 0.001). In CdCS individuals, we also found a higher stride time, along with a lower cadence and range of pelvic obliquity during gait ( p < 0.025 for all comparisons). Logistic regression analysis identified HR and RQA in the antero-posterior plane and the range of pelvic obliquity as the independent and most relevant features able to differentiate gait of CdCS subjects from HS. Conclusions Our study provides a comprehensive description of CdCS gait pattern, predominantly characterized by reduced symmetry, rhythmicity, and stability. Trial registration : The study protocol was approved by local Ethical Committee (CE Pavia, Approval Number: 2022-3.11/797) and pre-registered on www.clinicaltrials.gov (NCT05887739).
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?
No clinical trials are currently indexed for Cri du Chat Syndrome. This may change as new trials are registered. Check back regularly or visit ClinicalTrials.gov directly.
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 refreshed automatically every day. All articles and trials link directly to their original sources.
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