Table of contents:

Aetiology and incidence
Symptoms in neonates, children and adults
Prenatal and postnatal testing
Treatment options

The first reports of cri du chat disease were described almost half a century ago - French professor Jerome Lejeune related the importance of the loss of an arm of a chromosome, associated with a mutation called deletion, and the symptoms that appeared in children.

Aetiology and incidence

The disease is caused by a mutation involving the loss, or deletion, of a fragment of chromosome five. It is thought that the genes that are lost as a result of the mutation may be responsible for encoding important proteins for brain development - semaphorin F, delata-catenin and telomerase. The incidence of the disease is estimated at 1:15000 to 1:50000 live births. The deletion most commonly affects an area referred to as 5p15.2.

What causes a deletion of a chromosome fragment to occur? It is not known what the direct cause of the mutation is, the changes are usually de novo, meaning that it is not inherited from either parent. It is thought that the mutation may occur at the spermatogenesis or oogenesis stage. There are also theories that loss of a chromosome arm may occur due to a so-called translocation from a chromosome in one parent.

Symptoms in neonates, children and adults

The characteristic symptoms of the disease, which appear in the neonatal and early infant period, include:

a characteristic meowing cry - high-pitched sounds caused by developmental changes in the larynx,
problems with the sucking reflex due to abnormalities of the oral cavity,
so-called vitreous membrane syndrome causing complications in the respiratory system,
low birth weight,
muscular hypotonia,
hypertelorism, i.e. the wide spacing of the eye sockets,
small mandible,
low set auricles,
single palpebral fissure,
characteristic structure of the corners of the mouth pointing downwards,
heart defects.

Children diagnosed withcat scream syndrome are characterised by mental retardation - articulation and speech problems occur. Children in infancy are characterised by a small face, small head, often the first signs of greying. Patients develop recurrent inflammation of the respiratory tract, increased sensitivity to loud noises. As patients get older, malocclusion worsens, scoliosis may appear and facial features may become sharpened due to severe facial muscle tension.

Genetic diseases, photo: panthermedia

Prenatal and postnatal testing

Prenatal tests performed during pregnancy make it possible to detect the mutation causing the disease. Why is it so important to detect a disease during the foetal period? First of all, it allows the parents to prepare for the arrival of a sick child and to adapt the conditions to accommodate a child who will require increased care. Children with cri du chat syndrome often require assisted feeding using a special probe. Young patients show abnormalities in the anatomy of the larynx - flaccidity of the epiglottis or asymmetry of the vocal cords appear. In addition, there are often problems resulting from the appearance of vitreous membrane syndrome, when there are lesions on the surface of the alveoli that impede gas exchange.

Treatment options

Genetic diseases currently have no effective treatment - there is no way to 'repair' damaged genes. Treatment is geared towards preventing the effects of the lesions, i.e. symptomatic treatment is implemented. In many children with cat scratch syndrome, surgical intervention proves necessary - especially when problems affect the larynx or heart. Pharmacological treatment is introduced in patients who show sleep problems, hyperactivity or have concomitant illnesses.

Remember - the parents of a child suffering from cat scream syndrome should be referred to specialists who will help with the day-to-day management of the sick child. Little patients should be under the special care of a paediatrician, geneticist, speech therapist, dentist and psychologist. Rehabilitation and appropriate care allow them to achieve a minimum of independence, such as using the toilet or dressing themselves independently.

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Cri du chat - cat meow syndrome in children

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