An important part of the mission of the National Institute of

Child Health and Human Development (NICHD), part of the

National Institutes of Health (NIH), within the U.S.

Department of Health and Human Services, is to understand all

stages of development throughout the lifespan—from birth and

childhood, through adolescence and adulthood,

and into old age.

One of the key areas of NICHD research is on developmental

disabilities—problems that start in the developmental period

(before age 3 years), and that cause delays or problems in the

many skills that arise from infancy to adulthood.

Some of these disorders are well known, such as autism

spectrum disorders (ASDs) and mental retardation. Others,

such as Rett syndrome, are less common and, as a result, fewer

people know about them.

The NICHD has been supporting research on Rett syndrome

for more than two decades. Much is known about the disorder,

its symptoms, and the lives of those families affected by it, but

much remains unknown, too.

This fact sheet describes what we currently know about Rett

syndrome: its causes, its symptoms, and its treatments. The

fact sheet also explains some of the ongoing research supported

by the NICHD to learn more about Rett syndrome and lists

where families affected by Rett syndrome can go for more

information and assistance.

NICHD researchers join parents, families, and communities

affected by Rett syndrome in efforts to understand the disorder

to better diagnose, treat, and maybe even prevent Rett

syndrome.

N I C H D

National Institute

of Child Health and 

Human Development

National Institutes of Health

www.nichd.nih.gov

Autism

Research at

the NICHD

Rett Syndrome

U.S. DE PA R T M E N T O F HE A LT H

A N D HU M A N SE RV I C E S

National Institutes of Health
AUTISM RESEARCH AT THE NICHD

What is Rett syndrome?

Rett syndrome1 is a complex neurobiological

disorder of development in which an infant

seems to grow and develop normally at first,

but then stops developing and even loses skills

and abilities.

For instance, they

stop talking, even

though they used to

say certain words.

They lose their ability

to walk properly, even

though they used to

walk normally. They

stop using their hands to do things, even though

they had already started to grab and point. They

often develop stereotyped hand movements,

such as wringing, clapping, or patting their

hands. They stop responding to and interacting

with others normally, even though they used to

smile at others and follow them with their eyes.

Until recently, researchers thought that Rett

syndrome affected only females, but they now

know that Rett syndrome affects a few males as

well2. Because the number of males with Rett

syndrome is very small, most of the statistics and

research on Rett syndrome are specific to

females. You will notice that this fact sheet

refers mostly to females when talking about Rett

syndrome.

Although many people with Rett syndrome live

into their 40s and 50s, their lives are not easy.

Many of them can’t walk or talk, but can

communicate with their eyes. Most need special

education, diets, and treatments for their various

problems.

Most people with Rett syndrome can’t care for

themselves and need someone to care for them

throughout their lives.

What causes Rett syndrome?

For most females with Rett syndrome, the

disorder results from a change in a single gene.

What are genes?

Genes are pieces of DNA, material that contains

all the information needed to “build” a person.

Genes are hereditary, meaning parents pass

genes on to their children.

Most of this material is found in the nucleus of

the cell, a storage area that keeps these materials

together in one place. The nucleus stores the

material in packages called chromosomes.

Most people have 46 chromosomes in most of

their cells—23 from their mother and 23 from

their father. Each chromosome is made up of

different numbers of individual genes.

Genes contain the information your body uses to

make proteins, the body’s building blocks.

Proteins make up the structure of your organs

and tissues; your body needs them for chemical

functions and interacting chemical pathways.

Each protein performs a specific job in the

body’s different types of cells, and a single gene

usually contains the information for making at

least one protein.

2

Check the Glossary

on pages 9-10 to

learn how to 

say the bolded

words and what

they mean.
RETT SYNDROME

The pattern, or sequence, of your genes is like a

blueprint that tells your body how to build its

different parts. For example, your genes control

how tall you are, what color your hair and eyes

are, and other features of your body and mind.

Changes, or mutations, in that blueprint can

cause changes in how your body or mind grows

and develops.

How do genes cause Rett syndrome?

In 1999, NICHD-supported scientists3

discovered that most girls with Rett syndrome

have a change in the pattern of a single gene—

the Methyl-CpG-binding Protein 2 (MECP2) gene on

the X chromosome. Between 90 percent and 95

percent of girls with Rett syndrome have a

mutation in this gene4,5.

This gene makes methyl-CpG-binding 

protein 2 (MeCP2), which is necessary for the

development of the nervous system—especially

the brain. The mutation causes the gene to

make less than the needed amounts of the

protein, or to make a damaged protein that the

body can’t use. As a result, there may not be

enough usable amount of the protein for the

brain to develop normally.

Researchers are still trying to understand exactly

how the brain uses MeCP2 and how problems

with the protein cause the typical features of

Rett syndrome. Normally, MeCP2 helps to

“turn off ” certain genes that make different

proteins in nerve cells and other cells. Without

MeCP2, the body keeps making these materials,

even when it no longer needs them. After a

while, having high amounts of these materials in

the body may actually start to hurt the nervous

system and cause the problems of Rett

syndrome.

But, not all people with Rett syndrome have a

genetic mutation. In 5 percent4,6 of people with

Rett syndrome, an MECP2 mutation is not

present or is not detectable. And, some people

who have mutations on the MECP2 gene don’t

show the typical features of Rett syndrome.

Researchers are looking at different genes to see

if they, too, can cause the symptoms of Rett

syndrome.

If Rett syndrome is a genetic disorder,

does that mean it is inherited?

In more than 99.9 percent2 of cases of Rett

syndrome, the genetic mutation is spontaneous,

meaning that it occurs randomly. Random

mutations are usually not inherited or passed

from one generation to the next. In a very small

percentage of families—about 1 percent5—Rett

mutations are inherited and passed on by female

carriers. Scientists are working to learn more

about these families to understand how this

inherited mutation arises.

How many people have

Rett syndrome?

To date, researchers don’t know exactly how

many people have Rett syndrome. But, current

estimates of the prevalence of Rett syndrome

are that about one female out of 10,0007 has the

disorder.

3
AUTISM RESEARCH AT THE NICHD

What are the typical features

of Rett syndrome?

Beginning between 3 months and 3 years of age,

most children with Rett syndrome start to show

some of the following symptoms:

● Loss of purposeful hand movements—

They lose the ability to do things with their

hands, such as grasping with fingers, reaching

for things, or touching things on purpose.

● Loss of speech—Initially, they may stop saying

words or phrases that they once said; later,

they may make sounds, but do not say any

purposeful words.

● Balance and coordination problems—These

problems may start out as clumsiness and

trouble walking. About 60 percent8 of those

with Rett syndrome are still able to walk later

in life; others may become unable to sit up or

walk or may become immobile.

● Stereotypic movements—One of the unique

features of Rett syndrome is stereotypic hand

movements—such as hand wringing—that can

intensify and become almost continuous.

● Breathing problems—These problems may

include hyperventilation and breath holding

or apnea. These problems occur only while

the person with Rett syndrome is awake, not

during sleep.

● Anxiety and social-behavioral problems—

These issues can range from not being

comfortable in new places or situations, such

as a mall, to autistic-like features, such as lack

of eye contact.

● Intellectual disability/mental retardation—

Intellectual disability is often significant. In

fact, Rett syndrome is one of the leading

causes of intellectual disability and autism in

females.

During the last several years, researchers have

described a broader set of features for Rett

syndrome. Some people may be more or less

affected by symptoms of Rett syndrome than

others. Some people with Rett syndrome may

still be able to say single words, while others are

never able to talk. Some people with Rett

syndrome are not able to sit up on their own 

and stay upright, while others have no problems

with sitting.

Are there other problems associated

with Rett syndrome?

A number of problems are common among

those who have Rett syndrome. But having

these other problems is not necessary to get a

diagnosis of Rett syndrome. These problems

can include:

● Approximately 80 percent8 of girls with Rett

syndrome have scoliosis. In some cases, the

curving of the spine is so severe that the girls

require surgery. For some, bracing relieves the

problem, prevents it from getting worse, or

delays or eliminates the need for surgery.

4
RETT SYNDROME

● Seizures are also a common problem9 for

those with Rett syndrome. Seizures may

involve the whole body, or they may be staring

spells with no movement.

● Many persons with Rett syndrome also have

constipation and gastro-esophageal reflux.

Gall bladder problems10 may also occur and

can range from gallstones to pain or

discomfort in the abdomen.

● Some persons11,12 with Rett syndrome have

cardiac or heart problems, specifically

problems with the rhythm of their hearts. For

example, they may have abnormally long

pauses between heart beats (as measured by an

electrocardiogram or ECG), or they may

experience other types of arrhythmia.

● Many girls2 with Rett syndrome cannot feed

themselves. Some have trouble swallowing,

and others never develop the ability to chew

food properly. In some cases, too, in spite of

healthy appetites, girls with Rett syndrome do

not gain weight or have trouble maintaining a

healthy weight. As a result, some girls with

Rett syndrome rely on feeding tubes.

● Problems with sleep, specifically disrupted

sleep patterns at night (during childhood) and

an increase in total and day time sleep (after

age 5 years) are also common13 among those

with Rett syndrome. Some researchers14

suggest that problems with sleep are among

the earliest symptoms of Rett syndrome and

can appear between 1 and 2 months of age.

What is the usual course of

Rett syndrome?

As mentioned earlier, children with Rett

syndrome seem to develop normally as infants,

then regress or lose skills. Many persons with

Rett syndrome also experience a period of

stability.

Health care providers, relying on consensus

criteria15, view the onset of symptoms in four

stages:

● Early Onset Phase—Development stalls or

stops. Sometimes, the slowing or stopping is

so subtle that parents and health care

providers don’t notice it at first.

● Rapid Destructive Phase—The child loses

skills (regresses) quickly. Purposeful hand

movements and speech are usually the first

skills lost. Breathing problems and stereotypic

hand movements usually also start during this

stage.

● Plateau Phase—Regression slows, and other

problems may seem to lessen or improve.

Seizures and movement problems are common

in the stage. Most people with Rett syndrome

spend most of their lives in Stage 3.

● Late Motor Deterioration Phase—Individuals

with Rett syndrome may become stiff or lose

muscle tone; some become immobile.

Scoliosis may be severe and require bracing or

surgery. Stereotypic hand movements and

breathing problems seem to lessen.

5
AUTISM RESEARCH AT THE NICHD

Researchers once thought that Stage 1 began

around 6 months of age. But, after analyzing

videotapes of Rett individuals taken from birth,

they now know16 that some infants with Rett

syndrome only seem to develop normally. In fact,

these infants show problems with very early

development.

In one study17, all of the infants with Rett

syndrome showed problems with body

movements from birth through age 6 months.

Another 42 percent17 showed stereotyped hand

movements during this time period.

In light of these new findings, some health care

providers feel that genetic screening for Rett

syndrome is critical to ensure that these infants

get help as early in life as possible. But, because

genetic testing would miss 5 percent of infants

with the disorder, clinical followup18 is also

critical to establish a diagnosis.

Is there a cure for 

Rett syndrome?

To date, there is no cure for Rett syndrome.

But research19 shows that early diagnosis of

developmental disorders, such as Rett syndrome,

is important for improving outcomes.

Interventions delivered early in life are more

likely to result in positive effects on later skills

and symptoms. The sooner treatment begins,

the greater the opportunity for learning. Most

people with Rett syndrome benefit from welldesigned interventions, no matter what

their age.

Are there treatments for 

Rett syndrome?

There are a variety of ways to help minimize the

effects of Rett syndrome. Rather than

addressing the syndrome as a whole, most

treatments20 try to reduce specific symptoms of

Rett syndrome. These treatments generally aim

to slow the loss of abilities, improve or preserve

movement, and encourage communication and

social contact.

People with Rett syndrome often benefit from a

team approach to care, in which many different

kinds of health care providers play a role along

with family members. Members of this care

team may include (but are not limited to):

● Physical therapists, who can help patients

improve or maintain mobility and balance and

reduce misshapen back and limbs

● Occupational therapists, who can help patients

improve or maintain use of their hands and

reduce stereotypic hand movements

6
RETT SYNDROME

● Speech-language therapists, who can help

patients use non-verbal ways of

communication and improve social interaction

Other members of the team may also include

developmental specialists, developmental

pediatricians, orthopedic surgeons,

gastroenterologists, pulmonologists, cardiologists,

neurologists, special education providers, and

nurses. The involvement of family members is

also critical to ensuring the well-being of those

with Rett syndrome.

Other options, such as medication or surgery are

also effective. For instance, surgery can correct

scoliosis for some persons with Rett syndrome.

Similarly, anti-seizure medications can effectively

control seizures for many affected by Rett

syndrome. Other medications can reduce

breathing problems and can eliminate problems

with heart beat rhythm.

Over-the-counter aids for indigestion and

constipation can also help to reduce these

problems. Calcium and mineral supplements

may also help to strengthen bones, which slows

the progress of the scoliosis.

If you have a question about treatments, talk to

your health care provider, or consult one of the

support organizations for Rett syndrome families

listed in the Where can I go for more information?

section of this fact sheet.

What are researchers doing

to learn more about 

Rett syndrome?

The NICHD and other organizations continue

their efforts to support research to understand

Rett syndrome, in hopes of learning to slow,

stop, and reverse its effects.

The 1999 finding of the MECP2 gene was a big

step forward and has provided many new

avenues for research.

Some researchers21 suggest that the specific type

of mutation in the MECP2 gene affects how

mild or severe symptoms of Rett syndrome are.

Studies are now underway to understand each

mutation that may cause the features of Rett

syndrome, and how these mutations might

change the features of the syndrome. One

NIH-funded study of the natural history of Rett

syndrome should also provide new information

about these topics.

Researchers are also trying to find other genes

that may be involved in Rett syndrome. Some

studies have helped to narrow the search for

these genes, but much is still unknown about

how these genes may cause or contribute to 

Rett syndrome.

7
AUTISM RESEARCH AT THE NICHD

8

Current findings1 suggest that a congenital type

of Rett-like syndrome, in which children have

very severe seizures in early infancy, may involve

the cyclin-dependent kinase-like 5 gene, CDKL5.

But researchers still don’t know how this gene

might be involved, or what its protein product,

cyclin-dependent kinase-like 5, specifically does

in the brain. Studies on this and other genes are

ongoing.

Other research focuses on understanding how X

chromosome inactivation (XCI) affects people

with Rett syndrome.

Cells randomly choose which X chromosome to

use and which one not to use—called XCI.

Because females have two X chromosomes,

those with Rett syndrome usually have one

mutated MECP2 gene and one normal MECP2

gene in most of their cells. But, only one X

chromosome is active in each cell, and only the

active chromosome makes proteins.

For some girls, then, XCI may mean that many

cells use the normal chromosome, so they have

higher levels of MeCP2 protein and milder

features of Rett syndrome. In some females,

only the normal chromosome is active, so these

individuals are normal, even though they have a

mutated gene.

Studies are also looking into XCI in males with

Rett syndrome. For some males, the features of

Rett syndrome sometimes occur with another

genetic condition called Klinefelter syndrome.

Most males have one X and one Y chromosome

in most of their cells. But, males with

Klinefelter syndrome have two X chromosomes

and one Y chromosome, which means they may

have one mutated MECP2 gene and one normal

MECP2 gene.

In these cases, the normal gene may be able to

make MeCP2, making the features of Rett

syndrome less severe; or the mutated gene may

cause the characteristic features of Rett

syndrome.

In other males with Rett syndrome, not all the

cells in the body have the mutated MECP2 gene.

In these cases, the cells are mosaic, meaning that

they are different because some have the

mutation and some do not. Efforts are ongoing

to try and understand mosaicism and how it

impacts the features of Rett syndrome.

With an understanding of how Rett syndrome

affects the entire body, health care providers can

better treat the problems associated with the

syndrome. This knowledge is important not just

for those affected by Rett syndrome, but also for

any person touched by a developmental disorder.
RETT SYNDROME

9

Glossary

The Word or Phrase... Is Pronounced... And Means...

Arrhythmia AY-rith-mee-uh Any disorder of heart rate or heart rhythm. In some

cases, the heart beats too fast, while in other cases, the

heart beats too slow. But these are both situations of

arrhythmia.

Apnea APP-knee-ah Periodic stop in breathing.

Chromosomes kro-mu-SOM One of the "packages" of genes and other DNA in the

nucleus of a cell. Humans have 23 pairs of

chromosomes, 46 in all. Each parent contributes one

chromosome to each pair, so children get half of their

chromosomes from their mothers and half from their

fathers.

Congenital kon-JENN-it-tull Existing from birth; not hereditary or inherited.

Consensus criteria konn-SENN-sus

kry-TEER-ee-uh

A selected group of experts in a given field evaluate the

available scientific information on a biomedical issue

and develop a list of features, usually the minimum of

those features, required for a specific diagnosis. In this

case, a group of experts on Rett syndrome reviewed

the available scientific information (including clinical

trials, case histories, and journal articles) on the

syndrome and compiled a list of those features a

person must have to get a diagnosis of Rett syndrome.

Constipation KONN-sti-pay-shun Abnormal slowing or stoppage of bowel movements.

Electrocardio-gram

(ECG)

ek-koe-CARD-deeoh-grammA test that records and measures the electrical activity

of the heart. Measures the rate and regularity of the

heart beats, the presence of any damage to the heart,

and the effects of drugs or devices used to regulate the

heart beat.

Feeding Tube FEED-ding TOOB A small, soft, plastic tube placed directly into the

stomach to provide feedings and medications.

Gallstones GALL-stones A deposit of cholesterol or other digestive product in the

gall bladder.

Gastro-esophageal

reflux

gass-TRO-ess-offuh-jeel REE-fluxFlow of the stomach contents back into the esophagus;

can result in heartburn and in esophageal damage.

Gene JEEN Pieces of DNA. They contain the information for

making a specific protein.

Hereditary ha-RED-ih-tare-ree Something passed down by an ancestor, or from one

generation to the next.

Hyperventilation HIGH-purr-venn-tilllay-shunRapid breathing; excessive rate and depth of breaths

that can cause a loss of carbon dioxide in the blood.
AUTISM RESEARCH AT THE NICHD

10

Glossary (Continued)

The Word or Phrase... Is Pronounced... And Means...

Intellectual disability/

Mental retardation

MENN-tul 

ree-tarr-DAY-shen

A term used when a person has certain limitations in

mental functioning and in skills such as communicating,

taking care of him or herself, and social skills. 

Klinefelter syndrome Kline-FELL-terr

SINN-drome

Most males with Klinefelter syndrome are XXY—they

have two copies of the X chromosome and one copy of

the Y chromosome in each cell. These males may have

low levels of the hormone testosterone beginning during

puberty, which can lead to breast development, and an

increased risk of breast cancer, reduced facial and body

hair, and infertility. They may also have problems with

speech and language development.

Mutation my-TAH-shun A permanent structural change in DNA. In most cases,

DNA changes either have no effect or cause harm, but

some mutations improve an organism's chance of

surviving.

Mosaic mo-SAY-ik Cells that have different genotypes or genetic

components.

Mosaicism mo-SAY-i-si-zm Having cells that are mosaic.

Nucleus NOO-klee-us The central cell structure that houses chromosomes.

Prevalence prev-uh-lens The number of people in a given population who have a

certain condition or disease.

Proteins PRO-teens A large molecule made up of one or more chains of

amino acids. Proteins perform a wide variety of

activities in the cell and in the body.

Purposeful hand

movements

PURR-puss-full

HAND 

MOOV-ments

Moving and controlling the hands to do something, such

as grab an object or touch something.

Scoliosis Skoe-lee-OH-siss Curving of the spine.

Seizures SEE-jurs A sudden attack, often one of convulsions, as in

epilepsy. Seizures don’t necessarily involve movement

or thrashing; they can also make someone seem as

though they are frozen, unmoving. 

Stereotyped behaviors STARE-ee-oh-tipd An action that is repeated without change.

Susceptibility suss-ept-ih-BILL-itteeThe state of being predisposed to, sensitive to, or of

lacking ability to resist manifestations of something

(such as a pathogen, familial disease, or drug); a

person who is susceptible is more likely to show

symptoms of a disorder.

X-chromosome

inactivation

EKS-kro-ma-SOM

inn-ak-tih-VAY-shun

In females, the phenomenon by which one X

chromosome is randomly inactivated in early embryonic

cells; all descendant cells, then, also have that

chromosome inactive.
RETT SYNDROME

11

1. Weaving, L.S., Ellaway, C..J, Gécz, J., & Christodoulou,

J. (2005). Rett syndrome: Clinical review and genetic

update. Journal of Medical Genetics, 42, 1-7.

2. Percy, A.K., Dragich, J., & Schanen, C. (2003). Rett

Syndrome: Clinical-Molecular Correlates. In G. Fisch

(Ed.), Genetics and Neurobehavioral Disorders (pp. 391-418).

Totowa, NJ: Humana Press.

3. Amir, R.E., Van den Veyver, I.B., Wan, M., Tran, C.Q.,

Francke, U., & Zoghbi, H.Y. (1999). Rett syndrome is

caused by mutations in X-linked MECP2. Nature

Genetics, Oct;23(2), 185-188.

4. Schollen, E., Smeets, E., Deflem, E., Fryns, J.P., &

Mathis, G. (2003). Gross rearrangements in the MECP2

gene in three patients with Rett syndrome: Implications

for routine diagnosis of Rett syndrome. Human

Mutations, 22, 116-120.

5. Zoghbi, H.Y. (2005). MeCP2 dysfunction in humans

and mice. Journal of Child Neurology, 20, 736-740.

6. Fang, P., Ward, P.A., Berry, S.A., Irons, M., Chong, B.,

Van den Veyver, I.B., Neul, J., Glaze, D.G., Zoghbi,

H.Y., & Roa, B.B. (2005 October). MECP2 gene

rearrangements in female and male patients with

features of Rett syndrome. Poster session presented at

the American Society of Human Genetics 2005 Annual

Meeting, Salt Lake City, Utah. Retrieved November 28,

2005, from

http://www.ashg.org/genetics/ashg/ashgmenu.htm.

7. Hagberg, B. (1993). Rett Syndrome: Clinical and

Biological Aspects. In G. Hberg, J. Wahlstrom, & M.

Anvret (Eds.), Clinics in Developmental Medicine No. 127

(pp. 4-20). London: McKeith Press.

8. Kerr, A.M., Webb, P., Prescott, R.J., & Milne, Y. (2003).

Results of surgery for scoliosis in Rett syndrome. Journal

of Child Neurology, 18, 703-708.

9. Glaze, D., Schultz, R., & Frost, J. (1998). Rett

syndrome: Characterization of seizures and nonseizures. Electroencephalography and Clinical Neurophysiology,

106, 79-83.

10. Percy, A.K., & Lane, J.B. (2004). Rett syndrome:

Clinical and molecular update. Current Opinions in

Pediatrics, 16, 660-677.

11. Ellaway, C.J., Sholler, G., Leonard, H., &

Christodoulou, J. (1999). Prolonged QT interval in Rett

syndrome. Archives of Disease in Childhood, 80, 470-472.

12. Guideri, F., Acampa, M., DiPerri, T., Zapella, M., &

Hayek, Y. (2004). Progressive cardiac dysautonomia

observed in patients affected by classic Rett syndrome

and not in the preserved speech variant. Journal of Child

Neurology, 16, 370-373.

13. Ellaway, C., Peat, J., Leonard, H., & Christodoulou, J.

(2001). Sleep dysfunction in Rett syndrome: Lack of

age-related decrease in sleep duration. Brain Development,

Dec;23(Suppl 1), S101-S103.

14. Nomura, Y. (2005). Early behavior characteristics and

sleep disturbance in Rett syndrome. Brain and

Development, Nov;27(Suppl 1), S35-S42.

15. Hagberg, B., Hanefiled, F., Percy, A., & Skjeldal, O.

(2002). An update on clinically applicable diagnostic

criteria in Rett syndrome. Comments to Rett Syndrome

Clinical Criteria Consensus Panel Satellite to European

Pediatric Neurology Society Meeting, Germany 2001.

European Journal of Pediatric Neurology, 6, 293-297.

16. Nomura, Y., & Segawa, M. (1990). Clinical features of

the early stage of the Rett syndrome. Brain Development,

12(1), 16-19.

17. Einspieler, C., Kerr, A.M., & Prechtl, H.F.R. (2005). Is

the early development of girls with Rett disorder really

normal? Pediatric Research, 57, 696-700.

18. Zoghbi, H.Y. (Updated 11 February 2004). Rett

syndrome. In: GeneReviews at GeneTests: Medical

Genetics Information Resource (database online).

Copyright, University of Washington, Seattle. 1997-

2005. Available at http://www.genetests.org. Accessed

October 7, 2005.

19. Committee on Children with Disabilities, American

Academy of Pediatrics. (2001). The pediatrician’s role in

the diagnosis and management of autistic spectrum

disorder in children. Pediatrics, 107, 1221-1226.

20. Segawa, M., & Nomura, Y. (2005). Rett syndrome.

Current Opinions in Neurology, 18, 97-104.

21. Schanen, C., Houwink-Manville, I., Dorrani, N., Lane,

J., Everett, R., Feng, A., Cantor, R.M., & Percy, A.

(2004). Phenotypic manifestations of MECP2 mutations

in classical and atypical Rett syndrome.

The NICHD would like to thank Alan K. Percy,

M.D., and Huda Zoghbi, M.D., for their

assistance on this fact sheet.

References
AUTISM RESEARCH AT THE NICHD

Where can I go for more information about Rett syndrome?

For more information about Rett syndrome and other developmental disabilities, contact the

NICHD. The NICHD supports and conducts research on topics related to the health of

children, adults, families, and populations, including Rett syndrome and other developmental

disabilities. The mission of the NICHD is to ensure that every person is born healthy and

wanted, that women suffer no harmful effects from the reproductive process, and that all

children have the chance to fulfill their full potential for a healthy and productive life, free of

disease or disability, and to ensure the health, productivity, independence, and well-being of

all people through optimal rehabilitation. 

You can contact the NICHD through the NICHD Information Resource Center a t :

Phone: 1-800-370-2943 (TTY: 1-888-320-6942)

F a x : (301) 984-1473

M a i l : P.O. Box 3006, Rockville, MD 20847

E - m a i l : N I C H D I n f o rm a t i o n R e s o u rceCenter@mail.nih.gov (Please use AUTISM in the subject line)

I n t e rn e t : h t t p : / / w w w. n i c h d . n i h . g o v / a u t i s m

The National Library of Medicine also provides information on Rett syndrome through

Genetics Home Referenceat http://ghr.nlm.nih.gov/condition=rettsyndrome. . The Web site

also provides links to support organizations for families affected by Rett syndrome at

http://ghr.nlm.nih.gov/condition=rettsyndrome/show/Patient+support.

The NIH Web site also has information about Rett syndrome at 

http://health.nih.gov/result.asp/1037.

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AUTISM RESEARCH AT THE NICHD

NIH Pub. No. 06-5590

April 2006

● International Rett Syndrome Association

Phone: 1-800-818-RETT

Mail: 9121 Piscataway Road, #2B

Clinton, MD 20735

E-mail: admin@rettsyndrome.org

Internet: http://www.rettsyndrome.org

● Rett Syndrome Research Foundation

Phone: (513) 874-3020

Mail: 4600 Devitt Drive

Cincinnati, OH 45246

Internet: http://www.rsrf.org

These organizations also provide information about Rett syndrome to families and patients: