Introduction
Cri du Chat syndrome is a rare genetic disorder caused by the deletion of the short arm of chromosome 5.1 Infants suffering from this condition have a distinct high-pitched cry that sounds like that of a cat (cat’s cry).2 The severity of this condition can vary depending on what region of the chromosome was deleted. The characterisations of this syndrome are distinctive facial features, delayed development, and intellectual disability.1
Currently, there is no cure for Cri du Chat syndrome, however, there are treatments available to help the child reach their full potential.1 One of these is physical therapy, which this article will focus on.
Causes and prevalence
Cri du Chat syndrome is caused by the deletion of the end of the short (p) arm of chromosome 5. Depending on the individual the size of the deletion can vary. There have been studies that have suggested that larger deletions generally result in more severe intellectual disability and development delay compared to smaller deletions.2
In most cases, Cri du Chat syndrome is not inherited. The deletion of the short arm is a random event that occurs during the formation of eggs or sperm or in early foetal development. Usually, the affected individual's family has no history of the disorder.2
However, around 10% of cases are a result of inheriting a chromosome abnormality from an unaffected parent. The unaffected parent carries chromosomal rearrangement called a balanced translocation- where no genetic material is gained or lost. This translocation does not usually cause any health issues, but it can become unbalanced when it is passed to the next generation. So, the children who inherit the unbalanced translocation can have chromosomal rearrangements with extra or missing genetic material.2
Cri du Chat syndrome is a rare disorder, it is estimated that the incidence ranges from 1 in 15,000 to 50,000 live-born infants, with females being more frequently affected than males.1
Clinical features and symptoms.
The clinical features of Cri du Chat syndrome can include the following:
- A high-pitched, cat-like cry or weak cry (cat’s cry)
- Low birth weight
- A small head (microcephaly)
- A rounded face (moon face)
- A broad, flattened bridge of the nose
- Wide-set eyes
- Folds of skin over the eyelids
- Abnormalities of the palate, such as an unusually narrow and high palate
- A receding, small chin
- Malformations of the ears1,3
Diagnosis
Before birth
Cri du Chat syndrome can be diagnosed during pregnancy using amniocentesis, where the deletion of chromosome 5 can be detected.1
After birth
After the infant is born, they can be diagnosed using the clinical characteristics. If an infant has specific characteristics as mentioned above: microcephaly, low birth weight, muscle hypotonia along with cat’s cry it should raise clinical suspicion.1
Once clinical suspicion has been raised, a test called karyotype (complete set of chromosomes) analysis is used. However, in cases where the clinical suspicion is high, but the karyotype is normal further specific tests like FISH(fluorescence in situ hybridisation) can be used.1
Role of physical therapy in Cri Du Chat management
One of the characteristics of the syndrome is delayed psychomotor development. Psychomotor skills refer to tasks that require both cognitive and motor processes. A child with Cri du Chat syndrome could struggle with normal tasks like holding an object, walking up the stairs or anything that requires mind-body coordination. Physical therapy helps children learn to do these activities.4
Newborns can experience difficulty in swallowing and suction. Therefore, physical therapy should be started early, in the first week to help them with this action.1
One of the characteristics of Cri du Chat syndrome is muscle hypotonia which can be managed using physical therapy. The physical therapy involves stretches and exercises so the affected individual can develop proper muscle tone.4
Summary
Although there is yet no cure for Cri du Chat syndrome, there are treatments available to help the child reach their full potential. Physical therapy is one of the treatments available and it helps improve poor muscle tone and perform psychomotor tasks.3
Support for parents
There are support services available for parents of children with Cri du Chat syndrome and these are: counselling, information, referral, and advocacy.3
Genetic counselling
If Cri du Chat syndrome runs in your family or if your child has been diagnosed with it then you may wish to speak to a genetic counsellor.3 A genetic counsellor can help you understand the condition, explain the testing options available, and provide emotional support. They can provide information on how the condition could affect you or your family.3
References
- Cerruti Mainardi P. Cri du Chat syndrome. Orphanet J Rare Dis [Internet]. 2006 [cited 2025 Mar 24]; 1(1):33. Available from: https://doi.org/10.1186/1750-1172-1-33.
- Cornish K, Bramble D. Cri du chat syndrome: genotype‐phenotype correlations and recommendations for clinical management. Develop Med Child Neuro [Internet]. 2002 [cited 2025 Mar 24]; 44(7):494–7. Available from: https://onlinelibrary.wiley.com/doi/10.1111/j.1469-8749.2002.tb00312.x.
- Chen H. Cri-Du-Chat Syndrome. In: Atlas of Genetic Diagnosis and Counseling [Internet]. New York, NY: Springer US; 2012 [cited 2025 Mar 24]; p. 521–8. Available from: http://link.springer.com/10.1007/978-1-4614-1037-9_60.
- Bhalla N, Janarthan, Thapliyal G. A case study on Cri-Du-Chat syndrome: early intervention and rehabilitation. The International Journal of Indian Psychology [Internet]. 2019 [cited 2025 Mar 24]; 7(4). Available from: doi.org/10.25215/0704.004.
- Bermadez MZ, Gonzalez JG, Perez NP, Pozo AD, Ramirez YR, Ramos YV. Comprehensive rehabilitation of a patient with Cri du chat syndrome. Rev Cub de Med Fis y Rehab [Internet]. 2021 [cited 2025 Mar 24]; 13(2):1–15. Available from: https://www.medigraphic.com/cgi-bin/new/resumenI.cgi?IDARTICULO=107719.
