RETT SYNDROME

WHAT IS RETT SYNDROME?

Rett syndrome was discovered by Austrian physician Andreas Rett in 1966.

Rett Syndrome is a rare progressive neurodevelopmental genetic disorder that affects brain development after an initial 6-month period of normal development, resulting in severe mental and physical disability.

RETT SYNDROME IS ONLY FEMALE DISEASE

Rett syndrome is rare disease, this condition occurs in about 1 in every 10,000 girls worldwide. In 1999 a research study was conducted at Baylor College of Medicine which proved that Rett syndrome is an X-linked dominant disorder which explains why it is usually found in girls.

Rett syndrome is usually caused by changes/mutations in the MeCP2 gene. This gene provides instructions for making a protein (MeCP2), which is needed for the development of the nervous system and normal brain function. Mutations changes in the MeCP2 gene that cause Rett syndrome can change the MeCP2 protein or result in the production of too little protein, which appears to disrupt the normal function of neurons and other cells in the brain.

SYMPTOMS

Symptoms of rett syndrome appear gradually according to the stages.

Stage 1

In this stage, some early signs and symptoms appear which are following.

• Difficulty in feeding
• Low muscle tone
• Unusual and repetitive hand movements
• Jerky limb movements
• Delay with development of speech
• Lack of interest in toys
• Mobility problems; such as problems in sitting/crawling and walking

These symptoms typically begin from 6 to 18 months and often last for several months, however they can persist for a year or more. Stage 1 or early signs can often go unnoticed because the changes occur gradually and may be indefinite. First of all, for at least 6 months the child will appear to develop and grow normally. There may be precise signs of Rett syndrome before the child is recognized of having a problem.

Stage 2

This stage is called Rapid Destructive Stage. This stage is starts between 1 and 4 years of age, children lose the ability to perform skills they previously had. This loss can happen rapidly or more gradually, occurring over weeks or months.

Symptoms

• Slowed head growth
• Loss of the ability to use the hands purposefully
• Screaming or crying for no apparent reason
• Problems in sleeping
• Problems with movement and coordination
• Hyperventilating
• Social withdrawal

Stage 3

The 3rd stage is named Plateau. This stage usually begins as early as years or as late as 10 years.

Signs & symptoms

• Problems with movement continue
• Behavior may have limited improvement with less crying and irritability.
• Irregular breathing patterns may get worse.
• Some improvement in hand movement and speech.
• Seizures may begin in third stage and generally don't occur before the age of 2.

Stage 4

Stage 4 is called Late Motor Deterioration. This stage usually begins after the age of 10 and can last for years or decades.

Signs & symptoms

• Reduced mobility
• Muscle weakness and spasticity
• Joint contractures and scoliosis
• Understanding, communication and hand skills and brain function do not tend to get any worse during stage 4, and seizures may occur less often to adjust hand movement.

DIAGNOSIS

Rett syndrome diagnosised through RTT mutation test (blood test). If MeCP2 gene mutation is seen, the rett syndrome is confirmed. However, physical and mental signs and symptoms may also be seen with blood inquiry, because MeCP2 gene mutation is also noted in some other diseases.

TREATMENT

Physical Therapy

• Physical therapy is the best way to provides weight-bearing training for patients with scoliosis. It is also essential to improve mobility of joints and muscles tone.

Occupational Therapy

• With this technique, movements and self-directed activities such as dressing, feeding, washing, clapping and rubbing etc are teaches or improves.

Speech-Language Therapy

• The purpos of this practice is to learn or improve nonverbal communication and social interaction.

Feeding Assistance

• Supplements calcium and minerals to strengthen bones and slow scoliosis.
• High-calorie, high-fat diet to increase height and weight.
• Insertion of feeding tube if patients accidentally swallow their food their lungs.

Physical Assistance

• Braces or surgery to correct scoliosis.
• Splints to adjust hand movements.

Homeopathic treatment

Homeopathy is the alternative way of

treatment that trigger the body's natural defenses and was developed in late 1700's in Germany.

Basic phenomena behind homeopathy is "like cures like", which means treat an illness with a substance which can cause symptoms of that illness when taken in large doses, can be used in small amounts to treat that illness.

Medicines used in the treatment of Rett's disease are:

Agaricus Muscaris 30

Key symptoms of this remedy is late learning to talk and walk in children and it is due to mental defect. Children with twitching and early fainting or nervous girls prior to puberty who have convulsions because of being scolded, from excitement or shock.

Baryta Carbonica 30

Baryta Carbonica children are late in coming into usefulness, with their studies, on their activities and to do their work also. Other symptoms are late in learning to talk, read, walk. Loss of perception.

Calcarea Carbonica 200

Children have Late learning to walk, because the legs are so weak. Actually, it's not late learning to walk, but it is late walking. A child knows how to walk, but can't walk due to defect in the bone or weakness.

Calcarea carbonica child has very

weak limbs, flabby muscles & poor bones, so that he is late in learning to walk.

Calcarea Phosphorica 12x

Calcarea Phosphorica child is weak along with slow learner. This medicine is used to treat defective mental development and their symptoms.

Medorrhinum 1M

Children are rachitic, stunted in growth, dwarfed and mentally dull and weak. Used in the treatment of effects of maltreated and suppressed gonorrhea.

Phosphorus 200

Phosphorus is suited to feeble, sick and slender children which grown-up too rapidly. Indicated in emaciated children who are going into marasmus, and in persons who have tubercular history.

Silicea 12x

Development affected due to defective nutrition not because of food lacking in quality or quantity but from improper assimilation.