Overview 

Cri du chat, also known as cry of the cat syndrome is a rare disorder involving the genetic deletion of the chromosome number 5. It was discovered in 1963 by Jérôme Lejeune. The main characteristic of this syndrome is a cat-like cry sound that the affected infants give. The cat-like cry sound is high-pitched. It is linked with the initial diagnosis of the disorder as it is only noted in Cri du chat infants. 

Despite being a genetic disorder, the cases of Cri du chat syndrome are prevalent as a common chromosomal disorder with various physical, psychological and social complexities. Patients with this syndrome have structural facial abnormalities, abnormally small heads, severe mental retardation and intellectual disabilities.¹ The extremity of these symptoms in patients varies based on the genetic deletion of the affected chromosome arm which, could be partial or complete.

Importance of social interactions in individuals with Cri du chat syndrome 

Children with Cri du chat syndrome have delayed developmental growth as they struggle with social interactions. They suffer self-injurious behaviours and their sensitivity to their surroundings isis clumsy. The genetic deletion in Cri du chat syndrome causes expressive language impairment. Affected individuals struggle to get along socially and present autism-like features, therefore it is significant to support these patients through inclusive educational programs and behavioural learning activities in the early stages of life.

Characteristics of Cri Du Chat syndrome

• Genetic cause: Cri du chat syndrome occurs due to deletion or loss of chromosome 5. The deleted, region of the chromosomal sequence determines the extent of psychological abnormalities in the affected population.² Although Cri du chat syndrome is a genetic disorder caused by chromosomal mutation, it is uninherited from parents in most cases
• Physical characteristics: Children diagnosed with Cri du chat syndrome have a slow developmental rate with low birth weight. Other physical features of the disease include a short round head, increased distance between the forehead and downturned corners of the mouth¹. Some individuals also experience feeding difficulties, delays in walking and disabilities³
• Cognitive impairments: One of the less studied symptoms of Cri du chat syndrome include cognitive impairment or mental retardation. It causes the inability to communicate effectively. In most cases, patients cannot communicate verbally and use sign language. Despite this, comprehension of language in Cri du chat syndrome patients is high. They have a higher level of understanding and listening skills compared to speaking
• Communication challenges: Because of their high sensitivity to the surrounding environment, most Cri du chat syndrome cases cannot express themselves and establish social relationships. The repetitive and impulsive behaviour presents social issues and communication challenges where these patients cannot interact normally and express themselves freely. People with Cri du chat syndrome communicate with limited words and are hesitant to speak in a social environment²

Impact of Cri du chat syndrome on social interaction 

Cri du chat syndrome patients are isolated from a natural social environment. Caregivers and family members struggle to cope with the aggressive behaviour and see it as a threat to those around them. However, with proper awareness and teachings, these behavioural patterns are managed to improve the lives of both the patients and caregivers.

Social skills deficiency is common in Cri du chat syndrome such as patients struggling to maintain eye contact. Obsessive attachments to objects and things around them keep them from building undivided attention towards anyone. 

Sensory issues: like sensitivity to sound and light, and hyperactivity affects social interactions for patients with Cri du chat syndrome. 

Strategies to support social interactions in individuals with Cri du chat syndrome

• Speech therapy focuses on helping individuals with Cri du chat syndrome improve their verbal expression and find ways to express their needs. Utilising speech therapy during the early stages of life has been proven beneficial for most patients
• Occupational therapy: To help the patients live independently occupational therapy is dedicated to teaching them to care for themselves. It can help them be more confident while doing daily activities with little help. Occupational therapy creates a positive sense of being in these patients. It influences the social aspects of their behaviour
• Using alternative communication devices: Alternative communication devices have yielded benefits for children with intellectual or communication disabilities³. Speech aids help to express more effectively and improve monosyllable expression and multi-syllable delivery. Video modelling with assisted speech is another valuable strategy which can be educational towards creating emotional and social intelligence

Importance of social inclusion for individuals with Cri du chat syndrome

Social inclusion of patients with Cri du chat syndrome helps them live a normal life. Educational interventions for children with Cri du chat syndrome contribute to their developmental progress.

• Benefits of social interactions for overall well-being: Promoting social interaction will reduce aggressive behaviour challenges and improve the mental health of these patients. It will also help create a sense of closeness with society while building social relationships
• Strategies for promoting social inclusion in educational and community settings 

One of the systemic reviews by Udeme and colleagues highlights the benefits of early interventions for individuals with intellectual disabilities. Many strategies like narrative role plays in classrooms, storytelling, emotional intelligence training and playing computer games based on social skills have diminished social impairment in the affected group to a significant level.⁴ Similar models are adopted for Cri du chat syndrome patients as they share common symptoms with many intellectual disorders such as Autism.

FAQ’s

Can we prevent Cri du chat syndrome?

There is no way to prevent Cri du chat syndrome. It is a genetic disorder. And even if you don't display symptoms, you may be a carrier.

What is the survival rate of the individuals suffering from the disease?

Morbidity and mortality rates. Degrees after. First few years of life. It has been reported that 75% of deaths occur within the first month of life and 90% of deaths occur during the first year.

What factors influence the presentation of the Cri du chat syndrome?

The type, size and location of the deletion on the chromosome affect the prognosis of the disease.

Summary

Cri du chat syndrome is a disorder which hinders the social growth of affected individuals. However, research has shown that early interventions and educational programs can help improve the quality of life for patients and promote higher social interaction. People with Cri du chat syndrome are over-friendly individuals, social awareness can increase their acceptance among peers. Social acceptance is integral to reducing the feeling of isolation in the patients. Communication devices and occupational therapy can build confidence and improve linguistic expression. General awareness can be advantageous in reducing the disconnect between socially deficit groups including Cri du chat syndrome patients and society.