Rett syndrome is a rare neurological disorder which often presents within the first 6 months to 1.5 years of a child’s life. As the condition progresses, children often lose their language and motor skills, causing them to be unable to live independently. However, reports Medical XPress, new data suggests that early and thorough training in specific skills and tasks can help children with Rett syndrome not only keep these skills, but delay Rett syndrome onset. When evaluating this in mice models of the condition, researchers discovered that training could play a valuable role in managing and treating patients. Read the full study findings published in Nature.
In 1999, approximately 22 years ago, Dr. Huga Zoghbi discovered that MECP2 gene mutations could, in some cases, be linked to Rett syndrome diagnoses. Now, Dr. Zoghbi continued working to deepen his knowledge on this condition and find ways to improve patients’ quality of life (QOL). In this research, Dr. Zoghbi and his team believe that two specific things could work for patient benefit:
- Newborn screening / genetic testing
- Skill and task training in areas such as communication or balance
Currently, there is no standardized newborn screening panel for all 50 states. The Health Resources & Services Administration (HRSA) has a Recommended Uniform Screening Panel with 35 core disorders and 26 secondary conditions. However, each state is allowed to choose which conditions to include in newborn screening panels. By standardizing this, doctors would be able to more easily identify and diagnose patients with Rett syndrome. As a result, the researchers argue, patients could begin task training earlier and thus stop the progression of their condition.
Task Training in Mice Models of Rett Syndrome
Prior to this research, Dr. Zoghbi has shown that deep brain stimulation (DBS) improves memory and learning capabilities in animal models of Rett syndrome. Unfortunately, this type of treatment can be hard; each symptom would require a new form of DBS, making it inefficient and invasive for patients. Thus, researchers turned to task training. To do this, they used mice models of Rett syndrome. They began by evaluating how task training could improve motor function and coordination in a specific task: walking on a rotating rod.
Importantly, mice did improve. However, the only improvement was in trained areas. For example, training a mouse in memory could improve its memory compared to untrained mice. But training a mouse in memory did not also improve coordination. Thus, more comprehensive training would be needed to delay all symptoms associated with this condition. The improvements did come from task-specific neurons, which are activated during repetition and help maintain neuronal function.
While Rett syndrome, a rare and severe neurological disorder, is genetically based, the condition is often not inherited. Rather, the X chromosome mutation which causes Rett syndrome is spontaneous, occurring only by chance. Typically, this disorder affects mostly females. Males born with this mutation often do not live past birth. In many cases, patients with Rett are unable to live independently. Symptom onset tends to appear between 12-18 months old. However, symptoms may appear earlier, or grow progressively worse as time goes on. Symptoms include:
- Social anxiety
- Loss of movement and coordination
- Slowed brain growth and a small head
- Difficulty feeding
- Changes in, or loss of, language skills
- Abnormal hand movements (wringing, clapping, rubbing, etc.)
- Uncoordinated breathing (holding breath, swallowing air, rapid breathing)
- Insomnia and other sleep disturbances
- Fragile bones
- Teeth grinding
Learn more about Rett syndrome here.