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Rett Syndrome: Signs Symptoms And Hope For The Future

Updated on June 19, 2013

Pervasive Developmental Disorder

Of the four Pervasive Developmental Disorders (PDD) Rett Syndrome is the rarest and the most serious. There is a wide range of symptoms and the Rett's victim is likely to display many or all of them. PPD is a congenital disorder, present at birth. The symptoms may be difficult to notice or non-existent in infants. Moderate to severe developmental delays in the areas of communication, social interaction, physical development and intellect are associated with PDD.

Other Pervasive Developmental Disorders are:


Causes of Rett Syndrome

A neurological disorder almost exclusive to girls, it is named for Dr. Andreas Rett who defined the disorder in 1966. In 1999 the Baylor Research Foundation found the genetic defect that causes Rett Syndrome. Scientists and researchers are currently working to learn more about the mutation of the MEPC2 gene and the dysfunction of the MeCP2 protein.

The mutation occurs on the x chromosome of the gene. Male children only have one x chromosome; hence, the defect is much more severe causing boys to die before birth or shortly after. The disorder affects about one in every 10,000 to 23,000 girls' births. It is not an inherited disorder although a faulty gene is to blame.


Early Signs And Symptoms Of Rett Syndrome

In the Rett's Syndrome infant, development will seem normal for the first 3 months. The onset of symptoms will be subtle. Often the first sign that something is wrong will be during a well baby exam as the doctor notes a problem with gaining weight. Slowing of head growth is one of the early signs that may be hard to detect.

In the onset stage, which occurs between ages 6 to 18 months, developments in communication are reversed or delayed. The child may already have already begun to say a few words and suddenly stops. Delays in motor skills such as sitting, crawling will be noticeable.

Multiple Symptoms Of Rett Syndrome

Girls will display some or all of these symptoms.

  • regression or delay of early speech and motor skills
  • loss of purposeful hand movements
  • stereotypical hand movements
  • difficulty chewing and swallowing
  • intellectual disability
  • breathing problems
  • scoliosis (approximately 80%)
  • gastro-esophagi-cal re flux
  • gallbladder problems
  • cardiac problems, specifically rhythm of the heart
  • unusual eye movements; blinking, closing one eye at a time

Stages Of Rett Syndrome

After the early onset stage the Rett's child will pass through three more distinctive stages of symptoms. Some may be more severe than others. Ages 1 to 4 years will bring a rapid destruction stage. Purposeful use of hands will be replaced by stereotypical hand movements. The child may have already learned the skills of reaching and pointing. These skills will stop and be replaced by squeezing, clapping, rubbing or tapping. Any skills acquired will be lost quickly during this stage.

Breathing problems may also appear as a form of apnea or hyperventilation. The child may not breath for seconds or minutes. This occurs while the child is awake. Problems chewing and swallowing may call for the child to have to be fed via a feeding tube. These girls will have trouble putting on weight.

Crying episodes may be common in this stage. The child may have anxiety and be socially withdrawn. Intellectual disabilities are common and will vary. Some may say a few words while others will not talk at all.

Between ages 2-10 (varying from girl to girl) a plateau stage occurs and regression begins to slow. The child may become more sociable and eye contact will improve. Nonverbal communication skills can develop now. Movement problems are still common. Some may develop seizures during this time. This is the stage of symptom development.

Later on these girls will pass through a late motor deterioration stage. They will become stiff, lose muscle tone and likely become immobile. However, stereotypical hand movements will improve. Scoliosis, very common in the Rett Syndrome girl will worsen


Treatment For Rett Syndrome

There is currently no known cure for Rett Syndrome. Treatment is the managing of symptoms and will vary for each girl. Breathing problems, seizures and other medical problems can be controlled through medication. Depending on severity the scoliosis patient may need to wear a brace. For those girls with severe chewing and swallowing difficulties a feeding tube will be necessary.

Rett Syndrome, sometimes considered to be a form of severe autism, is covered under the Individuals with Disabilities in Education Act. Education and related services must be provided for these girls from age 3 to 21.Parents or caregivers can contact their Local Education Authority as the best source for help and information. The Rett student may or may not be able to attend school in the classroom. Occupational therapy is provided and can help with feeding, dressing and other self help skills. Some may receive physical and/or speech therapies.


The Outlook And Hope For A Cure

Not much is known about life expectancy for women with Rett syndrome. Currently there are women age 40-50 that have survived the disorder so far. Scientists and researchers are constantly working to learn more about this rare disorder that affects girls.The Federal government has several agencies for clinical and basic research for a possible cure or ways to lessen severity. Gene therapy for regulating expression of a normal MECP2 gene is being studied in animals. Experiments are currently underway to develop treatment using a bone marrow transplant. Jonathan Kipnis, Ph.D. and his team at the University of Virginia made the announcement with a press release in March of 2012 after being able to replace faulty immune system cells in Rett mouse models.

Lessened severity or no symptoms at all may now be a reality. Let's hope so.

The girls and their families in the following videos share what their life is like.


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    • rebeccamealey profile imageAUTHOR

      Rebecca Mealey 

      6 years ago from Northeastern Georgia, USA

      I hope he can give you a big hug. Best to you. Thanks for your input.

    • 2besure profile image

      Pamela Lipscomb 

      6 years ago from Charlotte, North Carolina

      I can only stress that autism is a man made epidemic cause by overpowering vaccination cocktails. It has got to stop. It is heartbreaking that my 10 year old grandson can not say I love you Nana!

    • rebeccamealey profile imageAUTHOR

      Rebecca Mealey 

      7 years ago from Northeastern Georgia, USA

      You made my day! Thanks so much for commenting on this special Hub!

    • Sharkye11 profile image

      Jayme Kinsey 

      7 years ago from Oklahoma

      Wonderful of you to spread awareness of such an obscure condition. I recall one of the nurses I worked with had a daughter with this condition and it was very difficult for all of them. She was a beautiful girl, and one who had caring parents that were going to see she had the best care they could provide and all the love in the world. I like to think she will go on to lead a good life. Brilliant hub. Sharing and voting!

    • rebeccamealey profile imageAUTHOR

      Rebecca Mealey 

      8 years ago from Northeastern Georgia, USA

      I am so glad that you stumbled upon my Rett Syndrome Hub. I am so glad you approve. You have a very personal experience with the disorder. I pray they soon find a cure. Your friend must get many blessings!

    • profile image


      8 years ago

      Excellent job providing awareness of a rare but serious disorder. A friend has a daughter that suffers from Rett Syndrome. She can't communicate at all and spends a lot of time in a wheelchair. She can only walk assisted. My friend began a foundation to find a cure and now has raised millions and speaks all over the world. They have made a lot of progress and I hope one day there is a cure.

    • rebeccamealey profile imageAUTHOR

      Rebecca Mealey 

      8 years ago from Northeastern Georgia, USA

      Thanks for a compliment based on your first hand experience. This is the best kind of compliment!

    • mothsong profile image


      8 years ago

      Excellent hub. I have worked with several girls with Rett Syndrome and this article is very accurate as to what they and their families go through. Thank you for spreading awareness, and hopefully treatment/cure will one day become a reality.

    • rebeccamealey profile imageAUTHOR

      Rebecca Mealey 

      8 years ago from Northeastern Georgia, USA

      Thanks for joining the cause! Hopefully a cure, or help, is just around the corner!

    • PegCole17 profile image

      Peg Cole 

      8 years ago from Northeast of Dallas, Texas

      This was an informative and interesting article describing Rett Syndrome. I had never heard of this devastating disorder. My heart goes out to the parents and the children who are affected with this. Thank you for enlightening me. I will join the others in hoping for a cure in the near future.

    • quildon profile image

      Angela Joseph 

      8 years ago from Florida

      I've heard of Rett syndrome, but never came across any child with it when I worked in the school system. It sounds like a very difficult disease for parents to deal with. It's good to know that researchers are working on improving the quality of these children's lives. Great hub! Voted up and useful.

    • rebeccamealey profile imageAUTHOR

      Rebecca Mealey 

      8 years ago from Northeastern Georgia, USA

      Thanks Jojnkadu. There seems to have been a good bit of research conducted lately. Hopefully there will some help soon!Thanks for commenting.

    • Johnkadu123 profile image


      8 years ago from Toronto, Canada

      This is a great hub. I am particularly concerned that the means of diagnosis and management may be curtailed if health care reforms are stalled by the politicians. This is a very important issue for families across the world.

    • rebeccamealey profile imageAUTHOR

      Rebecca Mealey 

      8 years ago from Northeastern Georgia, USA

      That's a very good question. Speaking in layman terms I would say the younger the better. Good topic to research! Thanks for the idea.

    • Robin profile image

      Robin Edmondson 

      8 years ago from San Francisco

      We know of a little girl with Rett's, too. I hadn't heard of the new breakthroughs. Do you know whether it will help girls that have been living with Rett's for years, or is the potential treatment only for those in the early stages?

    • rebeccamealey profile imageAUTHOR

      Rebecca Mealey 

      8 years ago from Northeastern Georgia, USA

      Thanks, duffsmom, stephicks, fpherj. Glad to have enlightened you. Hope to write about the cure before long.

    • fpherj48 profile image


      8 years ago from Carson City

      I am another who has not heard of this syndrome. This is an insightful hub with an excellent explanation of Rhett's. Medical Science is constantly working hard to come up with so much more to help w/ the various syndromes and disorders of children. In the meantime, it takes special care and loving parents to focus on their child and use whatever is available to improve their child's quality of life and their progress.

      This is written so beautifully and with genuine concern....Peace. Up+

    • stephhicks68 profile image

      Stephanie Marshall 

      8 years ago from Bend, Oregon

      Well done! I have heard of Rett Syndrome, but didn't know about how debilitating it is. Rated up

    • duffsmom profile image

      P. Thorpe Christiansen 

      8 years ago from Pacific Northwest, USA

      I had never heard of this. Thank you for this well-written and informative Hub. Well done.

    • rebeccamealey profile imageAUTHOR

      Rebecca Mealey 

      8 years ago from Northeastern Georgia, USA

      Thanks Nell Rose. I hope so too. It is such a devastating disorder!

    • Nell Rose profile image

      Nell Rose 

      8 years ago from England

      I have seen it on tv but never realised what it was called. I hope in the near future they will be able to alleviate the symptoms or even better, find a cure, thanks for sharing this info, it will be very helpful to people with a family member with this illness.

    • rebeccamealey profile imageAUTHOR

      Rebecca Mealey 

      8 years ago from Northeastern Georgia, USA

      Thanks for sharing that Julie. Rett's is really rare. Many people have never even heard of it.

    • Julie DeNeen profile image

      Blurter of Indiscretions 

      8 years ago from Clinton CT

      I have a friend who has a daughter with Rett's- truly a very difficult disease that so few people know about. Thanks for writing!

    • rebeccamealey profile imageAUTHOR

      Rebecca Mealey 

      8 years ago from Northeastern Georgia, USA

      Thanks! Retts is a really little known disorder. Glad to enlighten you. I really hope the stem cell cure turns out.

    • teaches12345 profile image

      Dianna Mendez 

      8 years ago

      Interesting read on Rett syndrome. I had not heard of this before and found it fascinating. I hope that they find a cure for this some day. It is good to hear that some women are going well in spite of it.


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