Rett Syndrome

Rett syndrome is a development disorder often diagnosed during infancy. The condition nearly always affects girls, and it is fatal in boys. It is one of the most commonly misdiagnosed forms of autism and non-specific developmental delay.

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Rett Syndrome Symptoms

Rett Syndrome symptoms often appear after a period of normal or near normal development. When a child reaches between 6 and 18 months of life, there is a stagnation of skill development, often followed by a period of regression. Children may lose communication skills and be unable to use their hands properly. The condition progresses with a slowing of growth of the head and gait disturbances. Some children also experience seizures and breathing patterns may seem off or inconsistent.

Over time, Rett syndrome symptoms worsen. Some children develop increased motor control problems and they often retreat into isolation. They can become irritable quickly. These conditions can lessen somewhat over time. Many children develop better eye contact and communicate better as they age. Rett syndrome is not a degenerative disorder.

Diagnosing Rett Syndrome

Diagnosing Rett syndrome can be complex. A simple blood test will reveal MECP2 mutation, but this mutation is also seen in other types of development disorders. Doctors cannot make a diagnosis of the syndrome just from this blood test. In addition, doctors need to find the presence of the MECP2 mutation to make a molecular diagnosis or they need to diagnosis the condition based on diagnostic criteria. This is done by observing symptoms of the condition.

To make it more difficult to diagnose Rett syndrome, no two people will present the same signs and symptoms. This is because it can present a wide range of disability ranging from severely limiting conditions to mild forms. The severity of the condition, and the likely course the disease will take, is dependent on the location of the mutation and other factors. Two children with the condition are unlikely to have the same symptoms.

For parents who may be concerned that their child has Rett syndrome, the International Rett Syndrome Foundation offers testing and diagnosis centers around the world. Local hospitals and physicians specializing in developmental conditions can also help with the diagnosis process.

Living with Rett Syndrome

Although the condition has no cure, many families are able to adapt their lives to live with children with this condition. The symptoms and severity will differ so an individual adaptation plan for the family is often necessary.

Still, those who have the condition are likely to need assistance with virtually every aspect of their lives. This may include full time care giving.

• Those with Rett syndrome often need help with daily tasks such as feeding, bathing, dressing and using the bathroom.

• They typically need help moving from place to place, such as lifting and carrying the child.

• Some communication devices can be used, but easy communication can be difficult for some with a severe condition.

• Medications may be helpful in some cases.

One of the most significant effect on daily life is the development of apraxia, which is the inability or the reduced ability to perform motor movements. Even small movements such as the way an eye moves can be limited or difficult. Because of this element of the condition, it can be very difficult to gauge the intelligence of the child.

Since Rett syndrome is not a degenerative condition, a child with it is expected to grow into adulthood. In some situations, illness or other complications can lead to a shorter lifespan.

Hereditary Factors

Rett syndrome is considered a hereditary condition. This means that both the mother and father carried genes for the condition. Even still, it is a very rare condition, occurring in far less than one percent of children. It is estimated that 99.5 percent of the time, the mutation of the genes occurs sporadically. Most families will have only one child with the syndrome even if they have multiple children without the condition.

If your family has other family members with Rett syndrome, the condition may be more prominent. Speak to your doctor regarding the specifics in this situation. A genetic counselor may be able to help.

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