Learn About Rett Syndrome

What is the definition of Rett Syndrome?

Rett syndrome (RTT) is a disorder of the nervous system. This condition leads to developmental problems in children. It mostly affects language skills and hand use.

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What are the alternative names for Rett Syndrome?

RTT; Scoliosis - Rett syndrome; Intellectual disability - Rett syndrome

What are the causes of Rett Syndrome?

RTT occurs almost always in girls. It may be diagnosed as autism or cerebral palsy.

Most RTT cases are due to a problem in the gene called MECP2. This gene is on the X chromosome. Females have 2 X chromosomes. Even when one chromosome has this defect, the other X chromosome is normal enough for the child to survive.

Males born with this defective gene do not have a second X chromosome to make up for the problem. Therefore, the defect usually results in miscarriage, stillbirth, or very early death.

What are the symptoms of Rett Syndrome?

An infant with RTT usually has normal development for the first 6 to 18 months. Symptoms range from mild to severe.

Symptoms may include:

  • Breathing problems, which may get worse with stress. Breathing is usually normal during sleep and abnormal while awake.
  • Change in development.
  • Excessive saliva and drooling.
  • Floppy arms and legs, which is frequently the first sign.
  • Intellectual disabilities and learning difficulties.
  • Scoliosis.
  • Shaky, unsteady, stiff gait or toe walking.
  • Seizures.
  • Slowing head growth beginning at 5 to 6 months of age.
  • Loss of normal sleep patterns.
  • Loss of purposeful hand movements: For example, the grasp used to pick up small objects is replaced by repetitive hand motions like hand wringing or constant placement of hands in mouth.
  • Loss of social engagement.
  • Ongoing, severe constipation and gastroesophageal reflux (GERD).
  • Poor circulation that can lead to cold and bluish arms and legs.
  • Severe language development problems.

NOTE: Problems with breathing patterns may be the most upsetting and difficult symptom for parents to watch. Why they happen and what to do about them is not well understood. Most experts recommend that parents remain calm through an episode of irregular breathing like breath holding. It may help to remind yourself that normal breathing always returns and that your child will become used to the abnormal breathing pattern.

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What are the current treatments for Rett Syndrome?

Treatment may include:

  • Help with feeding and diapering
  • Methods to treat constipation and GERD
  • Physical therapy to help prevent hand problems
  • Weight bearing exercises with scoliosis

Supplemental feedings can help with slowed growth. A feeding tube may be needed if the child breathes in (aspirates) food. A diet high in calories and fat combined with feeding tubes can help increase weight and height. Weight gain may improve alertness and social interaction.

Medicines may be used to treat seizures. Supplements may be tried for constipation, alertness, or rigid muscles.

Stem cell therapy, alone or in combination with gene therapy, is another hopeful treatment.

Who are the top Rett Syndrome Local Doctors?
Elite
Highly rated in
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conditions
Neurology
Pediatrics

Texas Childrens Hospital

Texas Childrens Hospital

6621 Fannin St 
Houston, TX 77030

Daniel Glaze is a Neurologist and a Pediatrics doctor in Houston, Texas. Dr. Glaze has been practicing medicine for over 48 years and is rated as an Elite doctor by MediFind in the treatment of Rett Syndrome. He is also highly rated in 7 other conditions, according to our data. His top areas of expertise are Rett Syndrome, Angelman Syndrome, Autism Spectrum Disorder, and Drug Induced Dyskinesia. He is licensed to treat patients in Texas. Dr. Glaze is currently accepting new patients.

Elite
Highly rated in
5
conditions
Neurology
Pediatrics

Childrens Of Alabama

1600 7th Ave S 
Birmingham, AL 35233

Alan Percy is a Neurologist and a Pediatrics doctor in Birmingham, Alabama. Dr. Percy is rated as an Elite doctor by MediFind in the treatment of Rett Syndrome. He is also highly rated in 5 other conditions, according to our data. His top areas of expertise are Rett Syndrome, Autism Spectrum Disorder, Drug Induced Dyskinesia, and Angelman Syndrome. He is licensed to treat patients in Alabama. Dr. Percy is currently accepting new patients.

 
 
 
 
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Elite
Highly rated in
5
conditions
Neurology
Pediatrics

2200 Children's Way 
Nashville, TN 37232

Jeffrey Neul is a Neurologist and a Pediatrics doctor in Nashville, Tennessee. Dr. Neul has been practicing medicine for over 22 years and is rated as an Elite doctor by MediFind in the treatment of Rett Syndrome. He is also highly rated in 5 other conditions, according to our data. His top areas of expertise are Rett Syndrome, Autism Spectrum Disorder, Angelman Syndrome, and Drug Induced Dyskinesia. He is licensed to treat patients in Tennessee. Dr. Neul is currently accepting new patients.

What are the support groups for Rett Syndrome?

The following groups can provide more information and support for people with Rett syndrome and their families:

  • International Rett Syndrome Foundation -- www.rettsyndrome.org
  • National Organization for Rare Disorders -- rarediseases.org/rare-diseases/rett-syndrome
What is the outlook (prognosis) for Rett Syndrome?

The disease slowly gets worse until the teen years. Then, symptoms may improve. For example, seizures or breathing problems tend to lessen in the late teens.

Developmental delays vary. Usually, a child with RTT sits up properly, but may not crawl. For those who do crawl, many do so by scooting on their tummy without using their hands.

Similarly, some children walk independently within the normal age range, while others:

  • Are delayed
  • Do not learn to walk independently at all
  • Do not learn to walk until late childhood or early adolescence

For those children who do learn to walk at the normal time, some keep that ability for their lifetime, while other children lose the skill.

Life expectancies are not well studied, although survival at least until the mid-20s is likely. The average life expectancy for girls may be mid-40s. Death is often related to seizure, aspiration pneumonia, malnutrition, and accidents.

When should I contact a medical professional for Rett Syndrome?

Call your health care provider if you:

  • Have any concerns about your child's development
  • Notice a lack of normal development with motor or language skills in your child
  • Think your child has a health problem that needs treatment
What are the latest Rett Syndrome Clinical Trials?
Assessing the Effectiveness of Customized Computer Activities on Reducing Stereotypies and Improving Independent Upper Extremity Motor Skills in Persons With Rett Syndrome
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GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age
What are the Latest Advances for Rett Syndrome?
Impact of a 12-month multifaceted neurological physiotherapy intervention on gross motor function in women with Rett syndrome.
Paving Therapeutic Avenues for FOXG1 Syndrome: Untangling Genotypes and Phenotypes from a Molecular Perspective.
Tired of the same old research?
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A rare case of a male child with post-zygotic de novo mosaic variant c.538C > T in MECP2 gene: a case report of Rett syndrome.
Who are the sources who wrote this article ?

Published Date : November 04, 2020
Published By : Amit M. Shelat, DO, FACP, FAAN, Attending Neurologist and Assistant Professor of Clinical Neurology, Renaissance School of Medicine at Stony Brook University, Stony Brook, NY. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

What are the references for this article ?

Kwon JM. Neurodegenerative disorders of childhood. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 617.

Mink JW. Congenital, developmental, and neurocutaneous disorders. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 389.