What is Rett’s Syndrome?

Have you ever noticed that your baby or toddler was making great progress in the developmental milestones and then it seems they just stopped making progress and even regressed some?  This is most likely just the ebb and flow of normal development on the progression of the developmental milestones. 


Imagine you are expecting a baby addition to your family.  Your or your significant other endures the grueling pregnancy and labor procedure and you are holding your new baby girl.  She is just beautiful.  She has momma’s eyes and daddy’s nose and she is just the most precious thing you can imagine.  The doctor and nurses all congratulate you and in a few days you take little baby girl home.  Let’s call her Carrie.


Carrie is just adorable.  You have her room all fixed up and you dream about being the parent of Carrie.  You imagine all the great times you are going to have together.   How you are going to teach her to hold her own bottle.  Is her first word going to be “mommy” or “daddy?”  You can imagine her first step when grandma is there.  You want to lovingly gaze into Carrie’s eyes and have her recognize your face and smile back at you.  Your dreams consist of Carrie playing with other children, running, laughing, and even getting into a little mischief.  You know she is a product of you and she will be a little mischievous. 


Carrie is progressing along the lines of what the developmental specialist say she should.  At 4 months old Carrie is holding her own bottle.  She smiles readily.  Carrie grasps your fingers and has a pretty good grip.  You think “I have a softball player here.” 


Carrie turns six month old and you start to notice that that she is not grasping her bottle and your finger the way she used to. She is actually starting to have hand-wringing or hand washing behaviors.  She is avoiding eye contact when you lift her up.  She does not seem to care that you are even in the room.  You really do not think anything about it.  It is just a phase, your mind concludes.


At 10 months old you start to get more concerned because Carrie is having the same symptoms and has not outgrown it.  She also seems to not be developing the strength to sit up on her own and or pull up on her own. She kind of contorts her body in unusual ways.   Her body is growing, but her head seems to be staying the same.  She has a cold and you are taking her to the doctor today, so you decide to ask the doctor when he comes in about this stuff you have been noticing. 


On a side note this morning you find out that Mommy is pregnant again. 


Symptoms of Rett’s Disorder

The pediatrician is familiar with Carrie because he has been her doctor since birth.  However, the doctor wants to know the details and instructs the nurse to come write down what you are saying as he checks some of the things as you tell the story.  The following is what the nurse’s paper includes at the end of the session (Adapted from the Diagnostic and Statistical Manuel of Mental Disorder-IV-TR)[1]:

  • Apparent normal prenatal and perinatal development.
  • Apparent normal psychomotor development through the first 5 months after birth.
  • Normal head circumference at birth.
  • Deceleration of head growth between ages 5 and present (DSM says between 5 months and 48 months but Carrie is only 10 months old).
  • Loss of previously acquired purposeful hand skills between 5 months and present with subsequent development of hand movements, such as hand-wringing and hand washing (DSM says between 5 and 30 months but Carrie is only 10 months old). 
  • Loss of social engagement early in the course.
  • Appearance of poorly coordinated gait or trunk movements.  She will not stand up and seems to flex her body in unusual ways. 
  • Severely impaired expressive and receptive language development with severe psychomotor retardation.


The doctor reviews all of this with you and tells you he thinks Carrie has a disorder called Rett’s Disorder or Rett’s Syndrome.  You ask yourself, “What is Rett’s Syndrome.”  You ask the doctor and he shows you the symptoms and tells you this is a disorder which is similar to Autistic Disorder in some respect.  These children do not develop the appropriate social connection early on with others.  However, they will eventually develop some social connections and social reciprocity. 

 Rett's DisorderCredit: casd.binghamton.edu

You start to cry and question the doctor if it was something you did wrong or was it inheritable because you just found out this morning, mom, was pregnant again.  The doctor tells you that 95% percent of the time Rett’s Disorder is caused by a genetic mutation and most of the time the parents are not a carrier. 


The mutation occurs on the X chromosome.  If the child is a female, she will have Rett’s disorder.  If the child is male, most of the time the boy does not make it to term during the pregnancy.  Spontaneous abortion occurs and the male baby is lost.  This is due to the fact that males have an X and a Y chromosome and the mutation occurs on the X chromosome and it is fatal.  However, if the child is a girl, who has two X chromosome, the “healthy” X chromosome can dominate the X chromosome with the mutation and life is still viable but Rett’s Disorder is the consequence.  In essence, males die before birth.  Females live but have a lot of problems.  If the male does survive to delivery, they generally die by age 2.  There are just too many things that could affect the child. 


The doctor does tell you to at least get the mother checked out during this time of the new pregnancy to see if genetic testing may detect this mutation. 



Treatment of Rett’s Disorder

You are visible upset by this time and the doctor tells you he is sorry and there is not a cure but some research is being conducted with Insulin type growth factors.  The research is in the early stages but everyone is hopeful. 


Rett's DisorderCredit: www.rsrt.org

He also tells you even though there is no cure there are some things you can to do help Carrie. 

  • Speech therapy
  • Occupational Therapy
  • Physical therapy
  • Certain medications for behaviors
  • Sleep medications and aids
  • Counseling for parents to deal with the issues


You will still love Carrie and try to provide the full life for her.  You have different dreams now, but they are still showing you and Carrie laughing and playing.  Carrie will go through a lot.  Females can live to be 40 years old and sometimes longer.  She has a good chance of experience seizures, gastric problems, brain dysfunction, cardiac arrest, and various other problems.  You intend to make her life as comfortable and long as possible


Other resources about Rett’s Disorder

As part of you way to cope, you start to research and learn about Rett’s Disorder for Carrie’s and your own sake.  You find the following organization have great information:


  • National Institute of Neurological Disorders and Stroke (NINDS).
  • National Institute of Health
  • International Rett’s Syndrome Foundation
  • Autism Spectrum Institute at IllinoisStateUniversity
  • Mayo Clinic
  • Cleveland Clinic
Rett's DisorderCredit: ncpresby.pbworks.com


You decide you want to help Carrie and others like her so you decide to donate and volunteer.  You also provide what you have learned to others and get them involved as well.  You contact the International Rett Syndrome Foundation using the following information:


© International Rett Syndrome Foundation
4600 Devitt Drive, Cincinnati, OH 45246 | Tel: (800) 818-7388
EIN 31-1682518            CFC 11046
Please mail all checks to: P.O. Box 706143, Cincinnati, OH45270-6143



Pathways to Learning in Rett Syndrome
Amazon Price: $41.95 $35.34 Buy Now
(price as of Aug 1, 2013)
Autism and Other Neurodevelopmental Disorders
Amazon Price: $65.00 $49.99 Buy Now
(price as of Aug 1, 2013)
Autism Spectrum Disorders Through the Life Span
Amazon Price: $49.95 $39.52 Buy Now
(price as of Aug 1, 2013)