Causes and risk factors
Rett’s syndrome is common in girls than boys. It is caused by genetic mutation which hampers normal development and functioning of the brain. It is discovered that mutations in MECP2 gene present on X chromosome is responsible for development of Rett’s syndrome.
Clinical presentation
Rett’s syndrome is diagnosed after early stages i.e. stage I of normal or nearly normal development i.e. until 6 to 18 months of life. It is suspected when there is slowing or stagnation of movements. The child shows less eye contact and reduced interest in toys. There is delayed motor development like delay in sitting and crawling and slow rate of head growth. It is followed by stage II which occurs at 1 to 4 years of life. It includes repetitive hand movements like clapping, clenching, hand washing, hand mouthing, tapping along with walking problems and. It continues for a year. Other problems associated include indigestion, respiratory problems, etc. Initially there may be withdrawal and isolation when the child cries inconsolably and is irritable. Stage III occurs between 2 to 10 years. It is a pseudo stationary stage. Apraxia [inability to execute learned purposeful movements], motor problems, seizures are prominent at this stage. Irritability, crying, communication skills are improved at this stage. Interest in surroundings is developed. Stage IV involves late motor deterioration stage. In this there is reduced mobility, scoliosis, muscle weakness, rigidity, and spasticity. Repetitive hand movements decrease. Gaze improves. It can last for years or decades.
Investigation
Medical history by the patient’s parents and Clinical examination and careful observation of the patient by the doctor helps in diagnosis. Blood test, urine analysis is advised. Nerve conduction study, hearing test, ophthalmic exam is recommended. EEG may be advised. Imaging studies such as MRI, CT scan may be useful for further evaluation. Genetic mapping is done to confirm the diagnosis.
Treatment
No treatment cures Rett’s syndrome. It depends upon the presenting symptoms. Treatment involves medications for symptomatic relief in cases such as seizures or for muscle stiffness. Speech therapy, physiotherapy will help in managing rett’s syndrome. Nutritional support like high calorie diet may be required.
Other Modes of treatment
The other modes of treatment can also be effective in treating Rett’s syndrome. Homoeopathy is a science which deals with individualization considers a person in a holistic way. This science can be helpful in combating the symptoms. Similarly the ayurvedic system of medicine which uses herbal medicines and synthetic derivates are also found to be effective in treating Rett’s syndrome.
Facts and figures
Rett’s syndrome is found in every 1 out of 10,000 to 15,000 of female births in world.
