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What is Rett Syndrome? | #OverpowerRett

Imagine the symptoms of autism, cerebral palsy, and epilepsy affecting one child who cannot speak. That is Rett syndrome.

Rett syndrome is a rare genetic neurological disorder that occurs almost exclusively in girls and 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 gained.

What causes Rett Syndrome?

The clinical features of Rett syndrome were first described in 1966 by Dr. Andreas Rett. Patients with these clinical features were subsequently given the designation of Rett syndrome in 1983 in recognition of Dr. Rett’s original report. Rett syndrome is still considered a clinical diagnosis based on specific developmental history and clinical criteria. These clinical criteria were last revised in 2010.

Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 900 different mutations found on the MECP2 gene. Most of these mutations are found in eight different “hot spots.”

Rett syndrome is not a degenerative disorder with individuals living to middle age or beyond. It is not inherited. Rett syndrome occurs worldwide in 1 of every 10,000 female births, and is even more rare in boys. 

Rett syndrome can present with a wide range of disability, ranging from mild to severe. The course and severity of Rett syndrome is defined by the location, type, and severity of the mutation and X-inactivation.

Symptoms

Symptoms for Rett Syndrome may not reveal themselves from six months until 18 months after an infant is born. One day your child is healthy and happy, grasping for things as babies do. The next day you notice they are experiencing:

  • Breathing difficulties
  • Cardiac Issues
  • Swallowing and digestive issues
  • Scoliosis
  • Seizures
  • Repetitive hand movements

These are just some of the symptoms of Rett Syndrome, a neurological disorder primarily affecting girls. Symptoms may be more severe in boys. 

A mutated gene may be the cause of this disorder that affects all racial and ethnic groups around the world. That’s why it’s essential to know about Rett Syndrome Awareness Month in October.

Males with Rett

In 1999 it was reported that mutations in the MECP2 gene, located on the X chromosome, were associated with the clinical presentation of Rett syndrome. Since the ability to test the MECP2 gene has been available, there have been over 60 males reported with mutations in the MECP2 gene. 

A few of these males had a clinical picture consistent with the clinical criteria for Rett syndrome; however, most of these males presented with a different clinical presentation. Most males with mutations in MECP2 gene present with an earlier onset of symptoms, typically with significant problems beginning at or shortly after birth.

The determination of Rett syndrome is still based on clinical criteria and the clinical presentation. Over 95% of females with classic Rett syndrome will have a mutation in the MECP2 gene. Mutations in the MECP2 gene by themselves are not sufficient to make a diagnosis of Rett syndrome. Patients with mutations in the MECP2 gene that do not meet the clinical criteria for Rett syndrome are given the designation of MECP2-related disorders.

How can you help?

Having a loved one with Rett Syndrome can be difficult. They often have behavioral problems and extreme levels of anxiety because they can hear and understand us, but cannot respond or move well on their own. Here are ways you can help someone you know who has Rett Syndrome: 

Socialize. Kids must spend time with their peers, but when they can’t talk, it makes things difficult. Try teaching them yes and no with the direction they move their eyes, or even giving them a choice board so they can point to their answers. Taking a trip to the movie theater with friends is also a good idea because speaking will be minimal from both ends.

Be active. Again, this is something that can be hard when a child has trouble moving on their own. But, if you can help them on a short walk, go for a swim, or even ride horses, it can help with both physical and mental strength. Plus, it’s something the whole family can enjoy together.

Keep learning and be mindful.  There is constant research happening with Rett Syndrome. Hopefully, someday, a cure or better treatment will be discovered. The more you learn and are aware of what is truly going on in your child’s mind and body, the better you can react in ways that will make them feel comfortable.

5 Things You Might Not Know About Rett Syndrome

  1. The mutation is random. One of the most frustrating things about studying the gene mutation is that it occurs with conception, and other family members may not experience it.
  2. Sufferers can outgrow it. Many live satisfying lives well past middle age and into their later years.
  3. Babies seem healthy until it appears. Unlike other kinds of disorders, Rett Syndrome babies seem entirely normal until symptoms appear between six and 18 months after a female child is born.
  4. Varied symptoms. Rett Syndrome symptoms can include scoliosis, irregular breathing during the day, and sleep disturbances at night.
  5. Love and support make a difference. People impacted by Rett Syndrome can improve immeasurably with the love, understanding, and support of their family and friends.

To learn more or donate to Rett Syndrome, visit these organizations: