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Rett Syndrome - Rett Syndrome symptom, treatment, causes

Rett Syndrome is a rare nervous system disorder that affects about I in every 15000 baby girls. The child appears normal until 6 to 18 months of age, when signs of degeneration of the nervous system begin to show up. Normal signs of development such as crawling, walking and speech gradually disappear, and the child becomes progressively more handicapped. Intellectual development appears to be severely delayed, but true intelligence is difficult to measure girls with Rett syndrome have unusually bright eyes, and seem to understand more than they can express.

A characteristic symptom is writhing movements of the hands and limbs and inappropriate cries. All affected girls develop some degree, often severe, of abnormal curvature of the spine, and the majority have epileptic seizures.

Rett syndrome was first described in the 1960s, but was not medically recognised until the 1980s. The cause is unknown (though a genetic disorder is suspected), and there is no cure or treatment. There is a support organisation for the families of sufferers, who need constant care and assistance with all activities of daily living such as feeding, dressing and toileting.

Rett syndrome is a disorder of brain development that occurs almost exclusively in girls. In most cases, it is caused by a genetic mutation. Occurring almost exclusively in girls, this disorder produces severe autism-like symptoms. Typically, babies with RTT develop normally until the age of 6 to 18 months, when their developmental milestones regress. They lose purposeful use of their hands and are seriously disabled for life, with reduced muscle tone and seizures. A temporary "autistic-like" phase often occurs at the onset of the disorder, and older children are known for their social engagement through intense eye gaze. Caused by a mutated gene, Rett syndrome occurs in about one in 23,000 births. Boys who inherit this mutated gene usually don't survive infancy. There is no cure for Rett syndrome, but therapy helps some affected children improve their functional motor and communication skills.

Rett syndrome is a complex neurological disorder. It causes mental retardation and developmental degereration. It affects mainly girls. It could occur in any family at any time. Something goes wrong with the genetic makeup of the cells which become the baby.  People with Rett syndrome are profoundly and multiply disabled and highly dependent on others for their needs throughout their lives. Rett syndrome was first described in 1966 by the Austrian doctor, Andreas Rett. It is a complex neurological disorder, genetic in origin. A few boys also have the condition. At least one in every 10,000 females born has Rett syndrome. It is believed to be the second most common cause of severe and profound learning disability in girls. A large proportion of people who have Rett syndrome have a mutation, or fault, on the MECP2 gene on the X chromosome.

Causes of Rett Syndrome

The common Causes of Rett Syndrome :

• The cause of Rett syndrome is unknown.
• Synthesis of incorrect proteins, due to mutations in the gene, causes damage in the maturing brain.
• They found that MeCP2, the protein that is altered in patients with the syndrome, plays a critical role in snipping and rearranging messenger RNA molecules that carry the genetic code for the construction of other proteins that are important for brain function. .
• With a diagnosis of Rett's syndrome, it is also important to consider whether there is an underlying condition causing Rett's syndrome.
• The mutions in the X chromosome causes damage in the muring brain. The severity of the rett syndrome varies.

Symptoms of Rett Syndrome

Some common Symptoms of Rett Syndrome :

• Apraxia.
• Seizures.
• Change in development.
• Slowing head growth beginning at approximately 5-6 months of age.
• Shaky, unsteady, or stiff gait; or toe walking.
• Loss of social engagement.
• Severe language development problems.
• Scoliosis.
• Excessive saliva and drooling.

Treatment of Rett Syndrome

• Nutritional supplements.
• Since the hands are not used, physical therapy is necessary to prevent them from contracting
• Medication may be needed for breathing irregularities and motor difficulties, and antiepileptic drugs may be used to control seizures.
• The primary treatment for Rett syndrome includes supportive care to assist the patient with feeding and other aspects of daily life, and physical therapy to keep the muscles of the hands from contracting.
• Medication, like carbamazepine, to treat seizures.
• Assistance with feeding, diapering, and treating symptoms like constipation and GERD).
• Various other treatments, including carnitine and ketogenic diet, have been tried, but without promising results .