Rett Syndrome

About Rett Syndrome

About Rett Syndrome

Rett syndrome is a rare genetic neurological disorder that occurs mostly in females with a growing number of males being identified. It leads to severe impairments, affecting nearly every aspect of the child’s life: their ability to speak, walk, eat, and even breathe easily. The hallmark of Rett syndrome is near-constant repetitive hand movements. Rett syndrome is usually recognized in children between 6 to 18 months as they begin to miss developmental milestones or lose abilities they had previously gained. Rett syndrome is caused by mutations in a gene called MECP2 that is on the X chromosome. While there are more than 900 different mutations found on the MECP2 gene that cause Rett syndrome, the eight most common mutations account for most cases.

Rett syndrome is not a degenerative disorder. After an initial loss of skills in early childhood, there is a plateau in skill development or loss without intervention. Rett syndrome occurs worldwide in 1 of every 10,000 births. Individuals can live to middle age and beyond but are fully dependent on adult support for all aspects of their day throughout life. The location, type, and severity of the mutation and X-inactivation determine the course and severity of Rett syndrome.

Symptoms May Include

  • · Loss of speech
  • · Loss of purposeful use of hands
  • · Involuntary hand movements such as handwringing
  • · Loss of mobility or gait disturbances
  • · Low muscle tone
  • · Seizure
  • · Scoliosis
  • · Breathing issues
  • · Sleep disturbances
  • · Gastrointestinal disturbances
  • · Slowed rate of growth for head, feet and hands
  • · Research & Treatment Horizon

Because Rett syndrome is a complex disorder, it requires multiple approaches. One treatment will not work for everyone, and one treatment will not be sufficient for all aspects of Rett syndrome. IRSF’s scientific strategy focuses on innovative research for new drugs to treat Rett syndrome and genetic treatments for curative approaches. They are also working to build a robust treatment pipeline and ensure clinical trial readiness and success. The Foundation’s strategy is simple but effective: improve care today and create treatments for tomorrow. At the time of this printing, curative approaches like gene therapy for Rett syndrome are in clinical trials. IRSF is committed to providing solutions for everyone living with Rett syndrome. Over 20 companies are investing in treatments and curative approaches for Rett syndrome. Ten years ago, when the Raising A Hand book project started there were none. IRSF works with all of them to help ensure success and will not stop until they achieve their vision to create a world without Rett syndrome.

There is currently no cure for Rett syndrome. Still, with the advancements the International Rett Syndrome Foundation (IRSF) has made in identifying and understanding the root cause of Rett syndrome and the support of the Rett community and others, the FDA approved the very first treatment for Rett syndrome in March 2023.

What is Rett Syndrome?

Rett syndrome is a unique postnatal neurological disorder that is first recognized in infancy and seen almost always in girls but can be rarely seen in boys.

Rett syndrome has been most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay

Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different “hot spots.”

Rett syndrome strikes all racial and ethnic groups and occurs worldwide in 1 of every 10,000 female births.

Rett syndrome is a postnatal neurological disorder. It is not a degenerative disorder.

Rett syndrome causes problems in brain function that are responsible for cognitive, sensory, emotional, motor, and autonomic functions. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function, and even chewing, swallowing, and digestion.

Rett syndrome symptoms appear after an early period of apparently normal or near normal development until six to eighteen months of life when there is a slowing down or stagnation of skills. A period of regression then follows when she loses communication skills and purposeful use of her hands. Soon, stereotyped hand movements such as handwashing, gait disturbances, and slowing of the normal rate of head growth become apparent. Other problems may include seizures and disorganized breathing patterns while she is awake. In the early years, there may be a period of isolation or withdrawal when she is irritable and cries inconsolably.

Over time, motor problems may increase, but in general, irritability lessens and eye contact and communication improve.

Rett syndrome is confirmed with a simple blood test to identify the MECP2 mutation. However, since the MECP2 mutation is also seen in other disorders, the presence of the MECP2 mutation in itself is not enough for the diagnosis of Rett syndrome. Diagnosis requires either the presence of the mutation (a molecular diagnosis) or fulfillment of the diagnostic criteria (a clinical diagnosis, based on signs and symptoms that you can observe), or both.

Rett syndrome can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome are determined by the location, type, and severity of her mutation and X-inactivation. Therefore, two girls of the same age with the same mutation can appear quite different.

Rett syndrome presents many challenges, but with love, therapy, and assistance, those with the syndrome can benefit from school and community activities well into middle age and beyond. They experience a full range of emotions and show their engaging personalities as they take part in social, educational, and recreational activities at home and in the community.**

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Rett Syndrome

As seen through the eyes of someone who knows

Rett syndrome (RTT) is a neurological disorder, found primarily in females. The girls progress normally up until about 12 to 18 months of age when the characteristics of Rett start to reveal themselves. All the social skills and motor skills they have obtained slowly cease to progress, starting a process of regression to what is the equivalent of living the rest of their life as an infant. They lose the use of their hands, and the ability to speak, and most are bound to a wheelchair. Parents and siblings become 24-hour caregivers, changing their lives forever as well…Kevin Black