WHAT IS RETT SYNDROME?

Rett Syndrome is a unique developmental disorder that begins to show its affects in infancy or early childhood.

It is seen almost exclusively in females, and is found in a variety of racial and ethnic groups throughout the world.

Rett Syndrome symptoms appear after an early period of apparently normal or near normal development until six to eighteen months of life, when there is a slowing down or stagn

ation of skills. A period of regression then follows when she loses communication skills and purposeful use of her hands. Soon, stereotyped hand movements such as hand-washing, gait disturbances, and slowing of the normal range of disability ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of her mutation and X-inactivation. Therefore, two girls of the same age with the same mutation can appear quite different.

Rett Syndrome is a unique developmental disorder that is first recognized in infancy and seen almost always in girls, and rarely seen in boys. It has been most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. Rett Syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different “hot spots.” It strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births.


It is a developmental disorder; i
t is NOT a degenerative disorder.
 

Rett Syndrome causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function, and even chewing, swallowing, and digestion. Rett Syndrome is confirmed with a simple blood test to identify the MECP2 mutation. However, since the MECP2 mutation is also seen in other disorders, the presence of the MECP2 mutation in itself is not enough for the diagnosis of Rett syndrome. Diagnosis requires either the presence of the mutation (a molecular diagnosis) or fulfillment of the diagnostic criteria (a clinical diagnosis, based on signs and symptoms that you can observe) or both.

WHAT ARE THE SYMPTOMS?

Rett Syndrome symptoms appear after an early period of apparently normal or

near normal development until six to eighteen 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. Soon, stereotyped hand movements such as handwashing, gait disturbances, and slowing of the normal rate of head growth become apparent. Other problems may include seizures and disorganized breathing patterns while she is awake. In the early years, there may be a period of isolation or withdrawal when she is irritable and cries inconsolably. Over time, motor problems may increase, but in general, irritability lessens and eye contact and communication improve.

Rett Syndrome can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of her mutation and X-inactivation. Therefore, two girls of the same age with the same mutation can appear quite different.

Rett syndrome presents many challenges, but with love, therapy and assistance, those with the syndrome can benefit from school and community activities well into middle age and beyond. They experience a full range of emotions and show their engaging personalities as they take part in social, educational, and recreational activities at home and in the community.

WHAT TO EXPECT

Even though there is not yet a cure for Rett Syndrome, there are interventions that will make a significant difference. As Rett syndrome is not a degenerative disease, constant physical and mental stimulation will have a tangible impact, and it will avoid further physical deterioration due to non use. Each intervention will enhance the quality of life for those living with the condition.

Occupational, speech/communication and physical therapies are essential supports. The therapists within these three services often work together to address issues and develop therapy plans. Aggressive therapy is always recommended and there may be a need for lifelong support. A team approach including the family is the best practice when supporting a child or adult with Rett Syndrome. At this point, led by therapists with expertise in augmentative communication, good results are being seen with the use of computers that respond to eye gaze and do not necessarily require hand skills.

Other effective therapy interventions often used are hydro, hippo, music and massage therapies. They provide support to occupational, physical and speech programs. Each has its benefits and should not be overlooked.

Children and adults with Rett Syndrome can continue to learn and enjoy family and friends well into middle age and beyond.

AFTER THE DIAGNOSIS

When a child is diagnosed with Rett Syndrome, it can be very difficult for parents to accept. Sometimes a grief counselor specializing in special needs is helpful. The Rett Syndrome Society of British Columbia (RSSBC) is there to help you when your family is ready to move on. There is information available to you through R.S.S.B.C recourse library, website, and newsletters. The society can provide you with a sense of belonging to an extended family that can help you manage through difficult times. It is committed to support each family with up-to-date knowledge and new discoveries as they travel their journey with their loved ones diagnosed with Rett Syndrome.

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