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Rett Syndrome

What is Rett Syndrome ?

There is one kind of medical disorder that primarily affects females and this is Rett Syndrome. It is a form of neurological or brain disorder that is not evident at birth but slowly becomes obvious in less than a year or two. The syndrome affects the child’s normal brain functions and developmental abilities. In some children, the symptoms develop quickly while in others, the signs show up more slowly.

There are several types of Rett syndrome, namely, classical, congenital and the early-onset seizure type. Unfortunately, the disorder is not yet fully understood, so the treatment for the disease is primarily focused in managing the symptoms and providing supportive care to improve the patient’s quality of life.

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Causes of Rett Syndrome

The disorder is a result of mutations in the MECP2 gene, which is found in the X chromosome. Unlike males who have one X and one Y chromosome, females have two X chromosomes, making them more vulnerable to develop disorder. Yet, the disorder seems more serious in males than females. This is because majority of male Rett syndrome cases lead to mortality before reaching adulthood and even death before birth. Even so, there are quite a few who get to maturity but still exhibit symptoms associated to the disorder.

Rett Syndrome  – Who are affected ?

The syndrome is very rare and had been estimated to affect 1 girl out of 10,000 female births. Also, it had been found to occur spontaneously, regardless of the ethnic background and genetic predisposition. The disorder is less likely to be inherited by the next generation as studies have shown that some females who have the defective MECP2 gene do not exhibit symptoms of the disorder but are considered asymptomatic carriers.

Development of Rett Syndrome

The disorder often develops when the MECP2 gene acts abnormally. This particular gene is responsible for the production of methyl cytosine binding protein 2 for the proper development of brain function. The same gene also functions as a biochemical switch which instructs other genes to stop releasing their respective proteins. When the MECP2 gene works abnormally, there could be insufficient amounts of proteins or abnormal proteins may be produced. This can also influence other genes to act abnormally.

It should be noted that the syndrome comes in different varieties and some who have mutated MECP2 gene do not exhibit the symptoms of the disorder. Scientists discovered that mutations in the FOXG1 and CDKL5 genes can also result to the condition. FOXG1 gene mutation results in a congenital type of the disorder, while alterations in CDKL5 gene cause the early-onset seizure type. Scientists are still studying the other possible causes of the syndrome.

Symptoms of Rett Syndrome

The syndrome is manifested by coordination difficulties, behavioral and speech problems as well as stereotypic hand movements like squeezing, hand wringing, rubbing, clapping and tapping. These manifestations often surface between the 6th and 18th month of the child’s life.

Rett syndrome has four stages.

  • Stage I

The manifestations in stage I often get overlooked, and these appear during the early stage of infancy.

  • Stage II

The second stage marks the rapid, destructive phase of the disorder, occurring in the 1st to 4th year of the child’s life. The child will exhibit speech problems and purposeful hand movements. He/she may also sometimes hyperventilate and exhibit autistic-like symptoms.

  • Stage III

This stage is referred to as the pseudo-stationary stage, occurring between the 2nd and 10th year of the child’s life. Most children stay on the 3rd stage of the syndrome throughout their lives.  This phase is characterized by improved attention span, communication skills and alertness. He/she may be less irritable but still displays autistic-like characteristics.

  • Stage IV

The fourth stage is the late-motor deterioration phase that lasts decades.  The afflicted person’s purposeful hand movements, communication and cognitive skills may improve, but the mobility, muscle tone, posture and ability to walk may decline.

Rett syndrome diagnosis

Those suspected of having the condition will be subjected to a series of diagnostic tests to confirm Rett syndrome diagnosis. First and foremost, the doctor will examine the symptoms and consider the history of developmental changes. Then the doctor will ensure that the symptoms are not of other medical conditions with similar characteristics, such as epilepsy, cerebral palsy, autism and other genetic diseases. After which, other diagnostic tests may be done based on the specific symptoms manifested by the child.  These include blood urine tests, hearing and vision tests, EEG, MRI, CT scan, nerve conduction tests and DNA analysis.

After gathering all the results of the tests, the doctor will compare them to the criteria set by the American Psychiatric Association in Diagnostic and Statistical Manual of Mental Disorders (DSM) and stage the severity of the syndrome.

Treatment for Rett syndrome

The treatment for the condition is more on symptom management and improvement of the quality of life of the patient and their loved ones. Medications may likewise be given for seizures and weak bones. And physical therapy could be recommended to improve mobility and muscle rigidity. Treatment methods may also involve using special equipment and following appropriate nutritional programs.

Rett Syndrome pictures

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