Rebuffing Rett Syndrome
You are playing with 14 month old daughter when you notice she can’t grasp objects in her hands. Her attempts at walking have slowed down. So have her initial attempts to speak. In fact, she seems to be regressing in all her skills. And her spine seems curved. She could have Rett syndrome.
Rett syndrome is a unique neurodevelopmental disorder caused by a sporadic mutation in a gene, MECP2, on the X chromosome. It almost exclusively affects girls, but boys may also be affected. The disorder causes a developmental arrest or failure of brain maturation resulting in the inability to program the body to perform motor movements.
Children usually develop normally until between 6 and 18 months, when a slowdown, then regression of communication skills, purposeful use of hands and other development occurs. Generally, the affected child eventually becomes dependent on others for maximum assistance with every aspect of their lives.
Rett syndrome typically affects girls after their 1st birthday, robbing them of learned skills and leaving them with cognitive deficits, loss of speech, and a variety of motor difficulties. These complications will then progress to possibly include muscle coordination and communication issues, seizures and cognitive impairments. They also develop repetitive movements such as wringing their hands.
Rett syndrome is estimated to affect one in every 10,000 to 15,000 live female births and in all racial and ethnic groups worldwide.
According to the Cleveland Clinic, Rett syndrome progresses in four stages. Children may show slightly different symptoms during each stage. Not everyone with the disease goes through every stage.
Rett syndrome stages are:
· Stage I, early onset, starts when a child is between 6 and 18 months. Children start to experience a slowdown in development, such as delays in crawling or lack of eye contact.
· Stage II, rapid progressive stage, usually occurs between 1 and 4 years. Children may lose some language skills and use of their hands. They may constantly wring their hands. Some children also experience autism-like behaviors and lack interest in socializing.
· Stage III, plateau or pseudo-stationary stage. Usually occurs between age 2 and 10. Seizures are common at this stage. This stage can last for years. Behavior may improve but at a loss of motor function.
· Stage IV, late motor deterioration stage, can occur at any time after stage III. Children typically lose some walking skills, mobility and muscle strength. However, in this stage, children can hold on to their thinking and communication abilities.
Parents may notice symptoms of the illness during a child’s early years. Your health care provider will use a genetic test to look for the MECP2 mutation. Since the genetic test is a blood test, it doesn’t require any special preparation or hospital stay.
Rett syndrome treatment may vary based on specific symptoms. For instance, children who experience seizures may take antiseizure medication. Some children with the condition may benefit from occupational, physical and speech therapy.
Some Rett syndrome symptoms may increase the risk of complications. For instance, swallowing problems or breathing issues can lead to a risk of aspiration pneumonia. This happens when food, saliva or other liquids go into the lungs and not the stomach.
Children who have scoliosis (another symptom of Rett syndrome) may also have lung problems. Uncontrolled seizures may pose a dangerous health risk as well.
Rett syndrome is a rare neurodevelopmental condition. Almost all patients with this condition need ongoing caregiver support. And with the right support in place, they can have a high quality of life. More research needs to be done to help achieve this. So that as knowledge and support grow concerning this disorder, patients can have a typical life expectancy.
