Rett Syndrome

Hope for those with the neurodevelopmental disorder.

Moms and dads want to see their children grow and thrive. But for parents of children with the autism spectrum disorder Rett syndrome, this can be a more challenging feat.

Although relatively unknown by the general public, Rett syndrome is one of the most common genetic causes of severe neurological impairment in females. According to the International Rett Syndrome Foundation, a girl is born every two hours with Rett syndrome. The disorder is caused by mutations on the MECP2 gene on the X chromosome.

Rett syndrome was first recognized in the 1960s. It took 35 years after the first clinical description to discover its genetic nature. Perhaps this is because the course of the disease is so unusual. An affected girl develops normally in her first months, learning how to speak, play and walk. However, this is followed by an unexpected loss of such acquired skills. And over the course of weeks or months, children with Rett syndrome lose the most basic functions that typically developing kids take for granted. Purposeful movements are replaced by repetitive hand wringing and irregular breathing patterns. Other common developments include seizures, chewing or swallowing difficulties, Parkinsonian tremors, scoliosis, sleep problems, irritability and anxiety.

Dreams of college, marriage and independence for these individuals are replaced with the realities of 24-hour care. And while most people with Rett syndrome live into adulthood alert and aware, they are trapped in their severely impaired bodies and unable to speak.

The peculiar course of the syndrome can be explained by the role of the MECP2 gene, which allows for typical brain development, including the production of an average number of brain cells and standard positioning within the cortex. However, the problem arises when the MECP2 doesn’t function properly. This can lead to abnormal expression of other genes.

Although hope is vital for a better future for those with Rett syndrome, it is equally important to have top-class services and support available to give these girls the best quality of life. Places such as the Tri-State Rett Syndrome Center at Montefiore Medical Center provide multidisciplinary care for Rett patients and offer education and support for caregivers, family members, healthcare providers and the community.

And fortunately, there is hope. Research has shown it is possible to restore connectivity of neurons and completely reverse all symptoms of this disease even in its advanced, adult stages. This brings great hope to parents and an obligation to medical and scientific communities to find ways to translate these experimental results into better treatments for humans.

While developments continue to progress, it is crucial to keep providing quality care and advanced treatments to girls with Rett syndrome. This ensures that they are in the best possible physical and intellectual condition when the day their cure comes.