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Rett Syndrome

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Introduction

The Questions and Answers that follow aim to provide an introduction to Rett syndrome (RTT) for parents and other family members. Following those, we offer links to selected resources for more information and support and a list of valuable services.
More information about many topics relevant to children with RTT and many other chronic conditions and their families can be found in the left menu. Detailed information aimed at primary care doctors can be found in our the Rett Syndrome module.

What is Rett syndrome and what causes it?

Rett syndrome (RTT) is a unique neurodevelopmental disorder which begins to show its effects in infancy or early childhood. It is seen almost exclusively in females, although it can occur rarely in boys. It is found in all racial and ethnic groups throughout the world. Rett syndrome is primarily caused by a sporadic mutation in the MECP2 gene on the X chromosome. The MECP2 gene makes a protein, also called MeCP2, believed to play a pivotal role in silencing, turning off, or regulating the activity of other genes. The MECP2 mutation (change in the gene) causes the turn-off/regulatory mechanism to fail, allowing other genes to function abnormally.

What are the symptoms of Rett syndrome?

The age when Rett syndrome begins and the severity of different symptoms may vary. The child with Rett syndrome is usually born healthy and shows an early period of apparently normal or near-normal development until 6-18 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 and slowing of the normal rate of head growth become apparent. Soon, stereotyped hand movements and gait disturbances are noted. Other problems may include disorganized breathing patterns, which occur when she is awake, and seizures. There may be a period of isolation or withdrawal when she is irritable and cries inconsolably. Over time, motor problems may increase, while interaction and communication, especially with eye gaze, seizures, and irregular breathing may improve. Most individuals with Rett Syndrome require assistance with every aspect of daily living.
Symptoms vary for the variant forms including the male form and are described in the Rett Syndrome, Initial Diagnosis.

How is it diagnosed?

RTT is a clinical diagnosis based on criteria as described in the Portal’s Rett Syndrome, Initial Diagnosis. MECP2 genetic testing is performed to confirm the clinical diagnosis but will sometimes be negative even in girls who geneticists have diagnosed with Rett syndrome.

What is the prognosis?

Most girls with Rett syndrome live normal lifespans although there is a small percentage who die unexpectedly of unknown causes. In one recent study in China, girls with Rett syndrome had a 100% survival rate at 10 years of age and 87.5% at 25 years of age. [Wong: 2007] Etiologies that have been implicated include heart rhythm abnormalities and seizures; there does not appear to be any single cause however. [Kerr: 1999] The International Rett Syndrome Foundation (IRSA) has recommended yearly EKG screening for heart rhythm abnormalities and seizures. If heart rhythm abnormalities and seizures are present or suspected they should be discussed with your medical home provider.

What is the risk for other family members or future babies?

The chance of having more than one child with Rett syndrome is very small, much less than one percent. This means that more than 99.5% of the time the mutation is sporadic, occurs only with this conception, and is not repeated in a family. Overall, the bottom line on recurrence risks: If a family has an affected daughter and no other affected relatives, the recurrence risk is much less than 1% for the family and children. In families with more than one affected child, the situation is different and would need to be addressed individually through a skilled genetic counselor.

What treatments/therapies/medications are recommended or available?

There are no therapies to treat the underlying cause for the disorder, which is genetic, although there are many therapies to help with the child's symptoms. These include therapies to enhance development, including physical, occupational, and language therapy, and medications to treat seizures if present. Other specific problems, such as feeding problems, are addressed individually by the child's providers.

How will my child and our family be impacted?

Having a child with Rett syndrome will impact the family in a major way. The child will most likely always need assistance in activities of daily living such as eating, dressing, etc. It is recommended that families contact a family support group for more information and support for the child and family as the family learns about this diagnosis and how it will impact their child. See International Rett Syndrome Association (IRSA).

Sometimes my daughter breathes in a very different way. What happens when she hyperventilates?

Deep breathing expels more carbon dioxide from the body than usual, so her hyperventilation causes her carbon dioxide level to fall. Carbon dioxide is one of the body’s normal waste products carried in the blood. Its purpose is to maintain the acid/alkali balance so that cells can function normally. When her carbon dioxide level falls, cells cannot function normally. Hyperventilation may cause her to feel dizzy and her fingers to tingle. For the majority of girls, irregular breathing patterns become less noticeable as they get older.

What should we do about her irregular breathing?

Although episodes of breath-holding produce great anxiety for parents to watch, they are always followed by regular breathing. Observing the irregular breathing can cause great concern, but experts in RTT recommend a low-key approach, taking comfort in the fact that girls do become accustomed to the irregular breathing and regular breathing will soon return. While it may seem like forever, it is important to stay calm and in control.

Should my daughter with Rett syndrome have an electrocardiogram (ECG)?

By age 5, your daughter should have an ECG performed. If normal, it should be repeated every other year. If abnormal, a cardiologist expert in the electrical function of heart should be consulted. If irregularities are noted on the electrocardiogram, a cardiologist may be consulted. Nonspecific ECG changes probably do not warrant medications but prolonged QT syndrome may require attention.

Resources

Information & Support

Where can I go for further information?

For Parents and Patients

Support

International Rett Syndrome Association (IRSA)
A non-profit organization that invests in research, provides support to families, and raises awareness about Rett syndrome.

General

NINDS Rett Syndrome Information Page
An overview of Rett syndrome with links to other organizations, from the National Institute of Neurological Disorders and Stroke.

Síndrome de Rett (NINDS)
Spanish language overview of Rett syndrome; National Institute of Neurological Disorders and Stroke.

Frequently Asked Questions (International Rett Syndrome Foundation)
Many thoughtful and well-researched answers to questions about Rett syndrome.

Rett Syndrome (Genetics Home Reference)
Excellent, detailed review of condition for patients and families; sponsored by the U.S. National Library of Medicine.

Rett syndrome (MedlinePlus)
Brief description of RS and numerous links to other reliable sources of information for parents and family members; from the National Library of Medicine.

Rett syndrome (MedlinePlus Encyclopedia)
Overview of Rett syndrome, with links to more information; from the National Library of Medicine.

Patient Education

Kids with Tubes
Information about tube-feeding from families, for families. Although the site is not updated often, the information remains valuable.

Services for Patients & Families in New Mexico (NM)

For services not listed above, browse our Services categories or search our database.

* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.

Studies

Rett Syndrome (clinicaltrials.gov)
Lists clinical studies that have an active, recruiting, and completed status; National Institutes of Health.

Authors & Reviewers

Initial publication: October 2012; last update/revision: September 2017
Current Authors and Reviewers:
Author: Lynne M. Kerr, MD, PhD
Reviewer: Jennifer Goldman-Luthy, MD, MRP, FAAP
Funding: The Medical Home Portal thanks the 2011-2012 URLEND Medical Home Portal trainees group for their contribution to this page.

Page Bibliography

Kerr AM, Julu PO.
Recent insights into hyperventilation from the study of Rett syndrome.
Arch Dis Child. 1999;80(4):384-7. PubMed abstract / Full Text

Wong VC, Li SY.
Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders.
J Child Neurol. 2007;22(12):1397-400. PubMed abstract