Rett Syndrome

much of the information and all of the pictures
on this page are from
http://www.rettsyndrome.com

RETT SYNDROME and CHILDHOOD
DISINTEGRATIVE DISORDER

Rett Syndrome Fact Sheet

~a neurological disorder:
The individual with Rett syndrome has a number of problems that affect her in different ways. The biggest problem is apraxia,
or the inability to program (usually automatic) the planning done by the brain to execute movements. Apraxia affects all aspects
of motor functioning: the ability to walk, move, talk, etc.
Physical Therapy is used to help with flexibility and to improve movement/ walking.
Occupational Therapy helps with use of hands for everyday activities like eating and drinking, brushing teeth, and playing with
toys or games.
Speech Therapy and Music Therapy are used to teach alternative ways of communicating. (Apraxia makes talking very
difficult).
Through Hydrotherapy, individuals are able to perform basic exercises/movements more easily.
Hippotherapy (horseback riding) helps strengthen muscles and improves balance.

~often misdiagnosed as autism, cerebral palsy or non-specified developmental delay;

~caused by a defective regulatory MECP2 gene, found on the X chromosome:
Rett syndrome is a condition caused by a gene mutation (MECP2) that occurs before birth. The discovery of the Rett
syndrome gene was announced on October 1, 1999 by researchers at Baylor College of Medicine in Houston, Texas. Rett
Syndrome is considered X-linked DOMINANT.

~seen almost exclusively in females:
Females have two X chromosomes (XX) and males have one X chromosome and one Y chromosome (XY). The mutation which
causes Rett syndrome (MECP2) is on the X chromosome. So, if the mutation causing Rett syndrome appears on one X,
females are able to survive because they still have another X. Males, on the other hand, have only one X (XY). If the mutation
appears on a male's X chromosome, he would most likely not survive to birth. This has led researchers to speculate that a male
fetus that survives to birth with the MECP2 mutation would have far more severe symptoms than a female fetus -- to the point that
the condition would probably not even be recognized as Rett syndrome.

~occurs in a variety of racial and ethnic groups worldwide;

~now known to occur from 1:10,000 to 1:23,000 female births, but incidence may be far greater as new genetic evidence is
discovered. Before the gene discovery, Rett syndrome was found to occur about once in 15,000 female births. New findings
suggest that milder forms of Rett syndrome may exist in much higher numbers. There may be hundreds of thousands of girls and
women with Rett syndrome throughout the world who are misdiagnosed or unidentified.

~first described by Dr. Andreas Rett in 1964 and received worldwide recognition after the first English language
publication by Dr. Bengt Hagberg in 1983;
Rett syndrome is named for Dr. Andreas Rett, of Vienna, Austria, who first recognized the disorder at his clinic in 1965. A
"syndrome" is the term for a group of symptoms that identify a special condition. Most people have never heard of Rett
syndrome because it has only recently been formally recognized. In fact, it wasn't until 1983 that the condition known as Rett
syndrome first appeared in medical literature. Those with Rett syndrome were likely once misdiagnosed with autism or
cerebral palsy.

~development appears normal until 6-18 months of age, followed by loss of acquired speech and hand skills,
slowing of head growth and development of stereotyped repetitive hand movements, loss or difficulty with mobility;
The genetic mutation is there before birth, but it takes some time for enough problems to develop to be able to notice that
something is wrong. A girl with Rett syndrome is usually born healthy and exhibits normal or near-normal development until 6-18
months of life.

~hand movements include handwashing, hand wringing, hand tapping, hand clapping, hand mouthing; stereotyped
hand movements may change over time; additional problems may include seizures, breathing irregularities
(hyperventilation and apnea), teeth grinding and curvature of the spine (scoliosis):
Again, Rett syndrome almost always affects girls as opposed to boys. At some point in the years following the first 6-18 months
of life, the child experiences an overall regression. Below are the criteria for the diagnosis of Rett syndrome that must be
present in combination with a positive test result for the MECP2 gene:
   Decreased head growth from 4 months to 4 years of age.
   Loss of the ability to use hands functionally.
   Loss of the ability to speak.
   Repetitive hand movements such as clapping, tapping or wringing. Individuals with Rett syndrome often move their hands
in a characteristic "washing" motion and/or repeatedly put their hands into their mouth. If the child is able to walk, movement is
stiff with the legs wide apart. As the child gets older, moving and walking may become increasingly difficult.
Other symptoms may include:
   Unusual breathing patterns: either holding the breath (apnea), or over-breathing
(hyperventilation).
   Seizures, which take place when the brain unexpectedly creates extra powerful electrical signals,
affecting behavior and movement. Seizures aren't usually harmful in and of themselves.
   Scoliosis, a curvature of the spine, may cause the child to lean to either side, or toward the front.
Some girls frequently grind their teeth.
   Foot size is small, and poor circulation may make their feet very cold and/or swollen. Girls are
usually small in both height and weight for their age.
Girls may also be irritable and have trouble sleeping, have difficulty chewing and swallowing,
and/or tremble and shake when upset or scared.

~99.5 % of cases of RS occur only once in a family:
99.5% of the time, Rett syndrome occurs only once in a family. The spontaneous mutation that causes Rett syndrome happens
after conception (not inherited from the parents). In a very small number of cases, less than .5%, the Rett syndrome gene is
inherited, passing from one generation to the next or occurring more than once in a family.

~barring illness or complications, survival into adulthood is expected:
An individual with Rett syndrome has a 95% chance of surviving to 20-25 years of age (compared to 98% in the general female
population). From age 25-40, life expectancy decreases to 69% (compared to 97% in the general female population). The
average life expectancy in Rett syndrome is estimated at 47 years.

Rett syndrome is a childhood neurodevelopmental disorder characterized by normal early development followed by
loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, gait abnormalities,
seizures, and intellectual disability. It affects females almost exclusively.

There are four stages of Rett syndrome. Stage I, called early onset, generally begins between 6 and 18 months of age. Quite
frequently, this stage is overlooked because symptoms of the disorder may be somewhat vague, and parents and doctors may
not notice the subtle slowing of development at first. The infant may begin to show less eye contact and have reduced interest in
toys. There may be delays in gross motor skills such as sitting or crawling. Hand-wringing and decreasing head growth may
occur, but not enough to draw attention. This stage usually lasts for a few months but can persist for more than a year.

Stage II, or the rapid destructive stage, usually begins between ages 1 and 4 and may last for weeks or months. This stage
may have either a rapid or a gradual onset as purposeful hand skills and spoken language are lost. The characteristic hand
movements begin to emerge during this stage and often include wringing, washing, clapping, or tapping, as well as repeatedly
moving the hands to the mouth. Hands are sometimes clasped behind the back or held at the sides, with random touching,
grasping, and releasing. The movements persist while the child is awake but disappear during sleep. Breathing irregularities
such as episodes of apnea and hyperventilation may occur, although breathing is usually normal during sleep. Some girls also
display autistic-like symptoms such as loss of social interaction and communication. General irritability and sleep irregularities
may be seen. Gait patterns are unsteady and initiating motor movements can be difficult. Slowing of head growth is usually
noticed during this stage.

Stage III, also called the plateau or pseudo-stationary stage, usually begins between ages 2 and 10 and can last for years.
Apraxia, motor problems, and seizures are prominent during this stage. However, there may be improvement in behavior, with
less irritability, crying, and autistic-like features. An individual in stage III may show more interest in her surroundings, and her
alertness, attention span, and communication skills may improve. Many girls remain in this stage for most of their lives.

The last stage, stage IV — called the late motor deterioration stage — can last for years or decades and is characterized
by reduced mobility. Muscle weakness, rigidity (stiffness), spasticity, dystonia (increased muscle tone with abnormal posturing of
extremity or trunk), and scoliosis (curvature of the spine) are other prominent features. Girls who were previously able to walk may
stop walking. Generally, there is no decline in cognition, communication, or hand skills in stage IV. Repetitive hand movements
may decrease, and eye gaze usually improves.
www.ninds.nih.gov/disorders/rett/detail_rett.htm

2) Rett's Disorder. Rett's Disorder, also known as Rett Syndrome, is diagnosed primarily in females. In children with Rett's
Disorder, development proceeds in an apparently normal fashion over the first 6 to 18 months at which point parents notice a
change in their child's behavior and some regression or loss of abilities, especially in gross motor skills such as walking and
moving. This is followed by an obvious loss in abilities such as speech, reasoning, and hand use. The repetition of certain
meaningless gestures or movements is an important clue to diagnosing Rett's Disorder; these gestures typically consist of
constant hand-wringing or hand-washing (Moeschler, Gibbs, & Graham 1990). The diagnostic criteria for Rett's Disorder
as set forth in the DSM-IV appear below.

Diagnostic Criteria for Rett's Disorder

A. All of the following:
   (1) apparently normal prenatal and perinatal development
   (2) apparently normal psychomotor development through the first 5 months after birth
   (3) normal head circumference at birth

B. Onset of all of the following after the period of normal development
   (1) deceleration of head growth between ages 5 and 48 months
   (2) loss of previously acquired purposeful hand skills between ages 5 and 30 months with the subsequent development of
stereotyped hand movements (e.g., hand-wringing or hand washing)
   (3) loss of social engagement early in the course (although often social interaction develops later)
   (4) appearance of poorly coordinated gait or trunk movements
   (5) severely impaired expressive and receptive language development with severe psychomotor retardation. (APA, 1994, pp. 72-73)

(Reprinted with permission from the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition. Copyright 1994 American Psychiatric Association.)

Childhood Disintegrative Disorder (DSM definition):

The central feature of Childhood Disintegrative Disorder is a marked regression in multiple areas of functioning following a period of at least two years of apparently normal
development. After the first two years of life, the child has a clinically significant loss of previously acquired skills in at least two of the following areas: expressive or receptive
language; social skills or adaptive behavior; bowel or bladder control; or play or motor skills. Individuals with this disorder exhibit the social and communicative deficits and
behavioral features generally observed in Autistic Disorder, as there is qualitative impairment in social interaction, communication, and restrictive, repetitive and stereotyped
patterns of behavior, interests, and activities. (Page 73)

A. Apparently normal development for at least the first 2 years after birth as manifested by the presence of age-appropriate verbal and nonverbal communication, social
relationships, play, and adaptive behavior.

B. Clinically significant loss of previously acquired skills (before age 10 years) in at least two of the following areas:
   Expressive or receptive language
   Social skills or adaptive behavior
   Bowel or bladder control
   Play
   Motor skills

C. Abnormalities of functioning in at least two of the following areas:
   Qualitative impairment in social interaction (e.g., impairment in nonverbal behaviors, failure to develop peer relationships, lack of social or emotional reciprocity)
   Qualitative impairments in communication (e.g., delay or lack of spoken language, inability to initiate or sustain a conversation, stereotyped and repetitive use of language,
lack of varied make-believe play)
   Restricted, repetitive, and stereotyped patterns of behavior, interests, and activities, including motor stereotypes and mannerisms

D. The disturbance is not better accounted for by another specific Pervasive Developmental Disorder or by Schizophrenia.