Cat meowing syndrome or Lejeune syndrome is a very rare disease that affects babies and is caused by the loss of genetic material on chromosome 5. The common characteristic is the crying of babies and the cause of the name of the disease The thing is that this cry resembles a cat’s meow. Patients with this syndrome have intellectual disabilities.
This disease was discovered by the French doctor Jerome Lejeune in 1963 and today it is also known as 5p minus syndrome disease.
The causes of many cases are unknown. It is only certain that in approximately 15% of cases, there is a hereditary genetic factor that causes the disease, but in the rest of the patients it is not known why the disease develops.
It is known that the disease is caused by the loss of genetic material from chromosome 5 and one of the suppressed genes, telomerase reverse transcriptase (TERT), is compromised in the control of cell growth.
The symptoms that are repeated in all cases are:
– Very high-pitched crying, similar to the meowing of cats, which is produced by the narrowing of the larynx.
– Weight below normal at birth.
– Microcephaly.
– Intellectual disability.
– Slow growth.
– Poor ability to communicate.
The peculiarity of the baby’s crying is the key factor that allows the doctor to diagnose this disease. In addition, various analyzes and diagnostic imaging tests will be performed to determine the child’s general health status.
To correct the symptoms, various techniques and exercises are currently used that, performed daily, manage to improve the patient’s condition. For example, early stimulation techniques manage to increase the child’s intellectual level. The treatment aims for the child to be minimally independent and also increase her ability to communicate.
Children with this syndrome have great interest in social interaction and are very emotional. Your biggest difficulty may be your inability to speak.
To date there is no effective method of preventing this disease.