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Rett Syndrome Awareness

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What is Rett Syndrome?
Rett syndrome is a postnatal neurological disorder seen almost always in girls, but can be rarely seen in boys. It is not a degenerative disorder.

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.”

Rett syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births.

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 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.


Testing and Diagnosis
Rett syndrome is most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. In the past, making the correct diagnosis called not only for a long list of diagnostic tests and procedures to rule out other disorders, but it also took from months to years waiting to confirm the diagnosis as new symptoms appeared over time. Today, we have a simple blood test to confirm the diagnosis. However, since we know that 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. Below is a list of labs to share with your ordering physician that can do the MECP2 sequencing + deletion analysis, and the list of diagnostic criteria.

Rett Syndrome Awareness

Leave a reply

What is Rett Syndrome?
Rett syndrome is a postnatal neurological disorder seen almost always in girls, but can be rarely seen in boys. It is not a degenerative disorder.

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.”

Rett syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births.

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 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.


Testing and Diagnosis
Rett syndrome is most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. In the past, making the correct diagnosis called not only for a long list of diagnostic tests and procedures to rule out other disorders, but it also took from months to years waiting to confirm the diagnosis as new symptoms appeared over time. Today, we have a simple blood test to confirm the diagnosis. However, since we know that 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. Below is a list of labs to share with your ordering physician that can do the MECP2 sequencing + deletion analysis, and the list of diagnostic criteria.

Turner syndrome

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Turner syndrome (TS) is a chromosomal condition that describes girls and women with common features that are caused by complete or partial absence of the second sex chromosome. TS occurs in approximately 1 of every 2,000 live female births and approximately 10% of all miscarriages.

At the basic level, the missing genetic material keeps the female body from maturing naturally.  Turner syndrome is variable and no female is exactly the same. There are a few available treatments for TS and our Society is currently working with researchers to develop additional treatment options and to find out more insights.

Causes
Turner syndrome occurs when all or part of one of the X chromosomes is lost before or soon after the time of conception.  It is not connected to or passed on from either parent and there is nothing a person can do to increase or decrease the chance of this happening.

Diagnosis
A female can be diagnosed with TS before birth with an amniocentesis or anytime during their life with a specific blood test called a karyotype.  A karyotype shows the number and visual appearance of the chromosomes as found in the cells of a person.

Turner syndrome is usually diagnosed before or during teen years when one would expect to see the signs of puberty that TS may prevent.  Diagnosis can occur in any stage of life.

Signs and Symptoms (may include any number of the following):

  • short stature (usually under 5′ tall) is the most common feature of TS
  • narrow, high-arched palate
  • retrognathia (lower jaw not prominent)
  • ears protruding outward, and/or low set, and/ or rotated toward neck low hairline
  • webbed neck (excess or stretched skin) which may include a lowered hairline
  • droopy eyes
  • strabismus (lazy eye)
  • broad chest
  • cubitus valgus (arm turns slightly out at the elbow)
  • scoliosis (curvature of spine)
  • flat feet
  • small and narrow fingernails, toenails that turn up
  • short fourth metacarpal (bone in hand under knuckle)
  • edema (swelling or puffiness) or hands and feet, especially at birth​

Treatment (for Growth and Development)
Several medical problems occur more frequently in individuals with TS but these conditions are usually managed successfully with good, ongoing medical care.

Conditions that may be managed through medication or other therapies include short stature, lack of estrogen, hypertension, hearing loss, lazy eye, obesity, diabetes, urinary tract abnormalities, thyroid dysfunction, and orthopedic problems.  Other treatments may include lymphedma therapy, occupational therapy, speech therapy (children), social skills training, and dietary adjustments for some symptoms of TS, this is not an exhaustive list of treatments.

Other Considerations
TS individuals are of normal intelligence with the same variance as the general population.   However, some have difficulty with spatial-temporal processing (imagining objects in relation to each other), nonverbal memory and attention.   This causes problems with sense of direction, manual dexterity, nonverbal learning and social skills.

Pass on the Ribbon & Help Spread Rett Syndrome Awareness

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Rett Syndrome Awareness Month

Rett syndrome is a rare, severe, “girls only” form of autism. It’s usually discovered in the first two years of life, and a child’s diagnosis with Rett syndrome can feel overwhelming. Although there’s no cure, early identification and treatment may help girls and families who are affected by Rett syndrome.

Who Gets Rett Syndrome?
Rett syndrome is an autism spectrum disorder that affects girls almost exclusively. It’s rare — only about one in 10,000 to 15,000 girls will develop the condition.

In most cases of Rett syndrome, a child develops normally in early life. Between 6 and 18 months of age, though, changes in the normal patterns of mental and social development begin.


What Are the Symptoms of Rett Syndrome?
Although it’s not always detected, a slowing of head growth is one of the first events in Rett syndrome. Loss of muscle tone is also an initial symptom. Soon, the child loses any purposeful use of her hands. Instead, she habitually wrings or rubs her hands together.

Around 1 to 4 years of age, social and language skills deteriorate in a girl with Rett syndrome. She stops talking and develops extreme social anxiety and withdrawal or disinterest in other people.

Rett syndrome also causes problems with muscles and coordination. Walking becomes awkward as girls develop a jerky, stiff-legged gait. A girl with Rett syndrome may also have uncoordinated breathing and seizures.


What Causes Rett Syndrome?
Most children with Rett syndrome have a mutation in a particular gene on the X chromosome. Exactly what this gene does, or how its mutation leads to Rett syndrome, isn’t clear. It’s believed that the single gene may influence many other genes involved in development.

Although Rett syndrome seems to be genetic, the faulty gene is almost never inherited from the parents. Rather, it’s a chance mutation that happens in the girl’s own DNA. No Rett syndrome risk factors have been identified, other than being female. There is no known method for preventing Rett syndrome.

When boys develop the Rett syndrome mutation, they die shortly after birth. Because boys have only one X chromosome (instead of the two girls have), the disease is more serious, and quickly fatal.


How Is Rett Syndrome Diagnosed?
A diagnosis of Rett syndrome is based on a girl’s pattern of symptoms and behavior. The diagnosis can be made on these observations alone. Discussions between a doctor and a girl’s parents will help determine important details, such as when symptoms started.
Genetic testing can help confirm the diagnosis in 80% of girls with suspected Rett syndrome. It’s possible that genetic testing can help predict severity.


Treatments for Rett Syndrome
There are treatments available for Rett syndrome that focus on helping a girl live the best life she can with the condition. Physical therapy can help improve mobility; speech therapy may help somewhat with language problems; and occupational therapy helps girls perform daily activities — like bathing and dressing — independently.

Experts believe that therapy can help girls with Rett syndrome and their parents. Although a “normal” life may not be possible, some improvement can be expected with therapy. Participating in activities — including school — and improved social interaction are sometimes possible.

Medicines can treat some of the problems with movement in Rett syndrome. Medication can also help control seizures. Unfortunately, there is no cure for Rett syndrome.


What to Expect With Rett Syndrome
Many girls with Rett syndrome can be expected to live at least into middle age. Researchers are still following women with the disease, which was only widely recognized in the past 20 years.

Symptoms of Rett syndrome don’t usually improve over time. It is a lifelong condition. Often, there is a very slow worsening of symptoms, or symptoms remain stable. Girls and women with Rett syndrome will rarely be able to live independently.

October is Rett Syndrome Awareness Month

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Rett Syndrome Aweareness month

What is Rett Syndrome?
Rett syndrome is a postnatal neurological disorder seen almost always in girls, but can be rarely seen in boys. It is not a degenerative disorder.

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.”

Rett syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births.

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 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.


Testing and Diagnosis
Rett syndrome is most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. In the past, making the correct diagnosis called not only for a long list of diagnostic tests and procedures to rule out other disorders, but it also took from months to years waiting to confirm the diagnosis as new symptoms appeared over time. Today, we have a simple blood test to confirm the diagnosis. However, since we know that 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. Below is a list of labs to share with your ordering physician that can do the MECP2 sequencing + deletion analysis, and the list of diagnostic criteria.