Rett syndrome

Rett syndrome is typically caused by changes (mutations) in the MECP2 gene. This gene provides instructions for making a protein (MeCP2) needed for the development of the nervous system and normal brain function. Mutations in the MECP2 gene that cause Rett syndrome can change the MeCP2 protein or result in the production of too little protein, which appears to disrupt the normal function of neurons and other cells in the brain.

Several conditions caused by changes in other genes (such as FOXG1syndrome) have overlapping signs and/or symptoms of Rett syndrome. These conditions were once thought to be variant forms of Rett syndrome, but are now usually considered to be separate disorders.

Although Rett syndrome is a genetic disorder, less than 1 percent of recorded cases are inherited or passed from one generation to the next. Most cases are sporadic, which means the mutation occurs randomly, and are not inherited. A few families have been described with more than one affected family member. These cases helped researchers determine that Rett syndrome has an X-linked dominant pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition.

The Angelman, Rett, and Prader-Willi Syndrome Consortium (ARPWSC) is an integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research in genetic and neurodevelopmental disorders, with the goal of improving the care of patients with Angelman Syndrome, Prader-Willi Syndrome, and Rett Syndrome. Contact the ARPWSC to learn more about joining the Rett syndrome registry and participating in research studies.

Angelman, Rett & Prader-Willi Syndromes Consortium Registry
Department of Molecular and Human Genetics
Baylor College of Medicine
One Baylor Plaza Rm. T619
Houston TX 77030
Phone: 713-798-4795
Fax: 713-798-7773
Email: sweaver@bcm.tmc.edu
Web site: http://rarediseasesnetwork.epi.usf.edu/arpwsc/index.htm

The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. Currently, 5 clinical trials are identified as enrolling individuals with Rett syndrome. To find these trials, click on the link above and use "Rett syndrome" as your search term. After you click on a study, review its "eligibility" criteria to determine its appropriateness. Use the study’s contact information to learn more. Check this site often for regular updates.

You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH). We recommend calling the toll-free number listed below to speak with a specialist, who can help you determine if there are any other relevant clinical trials.

Patient Recruitment and Public Liaison Office
NIH Clinical Center
Bethesda, Maryland 20892-2655
Toll-free: 800-411-1222
Fax: 301-480-9793
Email: prpl@mail.cc.nih.gov
Web site: http://clinicalcenter.nih.gov/

If someone you know is interested in enrolling in a clinical trial, you can find helpful general information on clinical trials at the following ClinicalTrials.gov Web page.
http://clinicaltrials.gov/ct2/info/understand

A tutorial about clinical trials that can also help answer your questions can be found at the following link from the National Library of Medicine:
http://www.nlm.nih.gov/medlineplus/tutorials/cancerclinicaltrials/htm/lesson.htm

Resources on many charitable or special-fare flights to research and treatment sites and low-cost hospitality accommodations for outpatients and family members, as well as ambulance services, are listed on the Web site of the Office of Rare Diseases (ORD), part of the National Institutes of Health.
http://rarediseases.info.nih.gov/Resources.aspx?PageID=8

Yes, girls with Rett syndrome can and have been successfully potty trained. Rettsyndrome.org (formerly the International Rett Syndrome Foundation) provides tips on potty training in their Rett Syndrome Handbook. Contact for Rettsyndrome.org is also provided below.

International Rett Syndrome Foundation
4600 Devitt Drive
Cincinnati OH 45246
Toll-free: 1-800-818-7388
Phone: 513-874-3020
Fax 513-874-2520
E-mail: admin@rettsyndrome.org
Web site: http://www.rettsyndrome.org/

The Information Center does not maintain lists of physicians who specialize in any particular disorder and cannot provide recommendations for medical services. However, Rettsyndrome.org maintains a list of clinics specializing in Rett syndrome on their Web site. This organization also lists state resources which may help you locate Rett syndrome specialists in your area.

Rettsyndrome.org
4600 Devitt Drive
Cincinnati, OH 45246
Toll-free: 1-800-818-7388
Telephone: 513-874-3020
Fax: 513-874-2520
E-mail: admin@rettsyndrome.org
Web site: http://www.rettsyndrome.org/

Additional resources that can help you locate genetics clinics are listed in the Living With section of our Rett syndrome web page.

Rett syndrome is a progressive, neuro-developmental condition that primarily affects girls. Affected girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental "plateau," and then rapid regression in language and motor skills. Additional signs and symptoms may include repetitive, stereotypic hand movements; fits of screaming and inconsolable crying; autistic features; panic-like attacks; teeth grinding (bruxism); episodic apnea and/or hyperpnea; gait ataxia and apraxia; tremors; seizures; and slowed head growth. Some people have an atypical form of Rett syndrome that may be more mild or more severe. Classic Rett syndrome is most commonly caused by mutations in the MECP2 gene and is usually inherited in an X-linked dominant manner. The vast majority of cases are not inherited from a parent, but are due to a new mutation in the affected person. Treatment mainly focuses on the specific signs and symptoms of the condition.

Yes. It is normal for girls with Rett syndrome to cry. Most parents describe screaming fits and inconsolable crying by age 18-24 months.

You can read more about this in the comprehensive review on MECP2 -Related Disorders online by visiting GeneReviews at the following link. GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
https://www.ncbi.nlm.nih.gov/books/NBK1497/

Girls with Rett syndrome, like other children, often go through a phase of biting, hitting, or spitting because it gets attention. While typically this is a behavior seen in toddlers, girls with Rett syndrome may continue the behavior for much longer. This is likely because as typical toddlers develop language, they learn to find more effective ways of getting attention and having their needs met. Girls with Rett syndrome do not develop those language skills and can take quite a long time to learn acceptable ways of responding.

You can read this and more about the challenging behaviors seen in Rett syndrome through the Rett Syndrome Handbook.

Researchers don't know exactly how many people have Rett syndrome. Current estimates suggest that this condition occurs in about 1 in every 10,000 girls worldwide. In the United States, the estimate is that Rett syndrome affects between 1 in 10,000 and 1 in 22,000 females.

The Rett Syndrome, MECP2 Duplications, & Rett-related Disorders Consortium is an integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research into three disorders of the nervous system: Rett syndrome (RTT), MECP2 duplication disorder and RTT-related disorders. Major goals of the Consortium are to identify and understand the core clinical features of each disorder; identify factors that can modify the severity of the disorders; and understand the relationship between patients’ symptoms and their brain imaging and electroencephalography alterations. Click on the name of the study for more information.

The International Rett Syndrome Foundation provides a list of specialty clinics for Rett syndrome.

The Angelman & Prader-Willi Syndromes Consortium is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with Angelman and Prader-Willi Syndromes through research.

For more information about Angelman syndrome research and patient registry, please contact:

Lynne M. Bird, MD
Office: 216-444-9017
Fax: 216- 636-2498
E-mail: lbird@rchsd.org

For more information about Prader-Willi syndrome research and patient registry, please contact:

Christine Keeling, RN, BSN
University of Florida
College of Medicine
Pediatrics Genetics
PO box 100296
Gainesville, FL 32610-0296
Office: 352-294-5280
Fax: 352-392-4049
E-mail: ckeeling@peds.ufl.edu