Tag Archives: Degenerative Disorder

Question?: Rett Syndrome In Boys

Lisa asks…

what is Rett’s syndrome?

admin answers:

What is Rett syndrome?
Rett syndrome is a unique developmental disorder that is first recognized in infancy and seen almost always in girls, but can be rarely seen in boys. It 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.

Rett syndrome is a developmental disorder. It is not a degenerative disorder. It 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 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.

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.
Http://www.rettsyndrome.org/index.php?option=com_content&task=view&id=16&Itemid=1000

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Question?: Rett Syndrome Causes

Michael asks…

what is some current research for rett syndrome?

i’m writing it in my brochure and i can’t find it anywhere!

admin answers:

Here are some great facts! Brochures are great when they are loaded with lots of facts and graphics. Use some of these:

Rett syndrome is a unique developmental disorder that is first recognized in infancy and seen almost always in girls, but can be rarely seen in boys.

Rett syndrome 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.”

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

Rett syndrome is a developmental disorder. It 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 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 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.

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.

Good luck in your work! 🙂

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Diagnosing Autism

Autistic children are often analyzed with their state by or approximately age three. Though there may be instances when a parent is aware that there is something going on when the child is at a young age, higher functioning forms of autism are often harder to spot. Warning signs vary from child to child. There are a few signs that all children with autism will have, however, and when these are present, a trip to the doctor for help would be warranted. Some cases can be caught very early. No matter how difficult or how subtle the signs to a doctor diagnosing autism will look for every known issue.

Classic Autism, commonly called Autism, is also sometimes called Kanner’s Syndrome after the Psychiatrist Leo Kanner. He studied 11 children at John Hopkins University from 1932 to 1943. He wrote about the common elements found in these children including a lack of emotion, repetitive actions, and problems with their speech formation, their ability to manipulate various objects, learning difficulties, and their levels of intelligence. His studies lead to many others wanting to learn more about the disorder.

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Asperger’s Syndrome is named after its founder, Hans Asperger. His studies took place in Vienna in 1944. He discovered many individuals had the problems with social skills and repetitive patterns but they did not have trouble with learning or their cognitive abilities. They also portrayed some very exceptional talents or abilities that were considered to be very remarkable. Albert Einstein is a very famous individual who had Asperger’s Syndrome.

Dr. Andrease Rett documented what is known As Rett’s Syndrome while in Australia in 1965. This is classified as a neuro developmental degenerative disorder. It only affects girls and the degeneration results in them being completely dependent on others for all of their needs. They have some of the symptoms of Autism but they also suffer from muscle lose. Girls with Rett’s Syndrome often have very small hands and feet.

When it comes to ABA therapy, school employees will quickly learn that the method is by far the most effective treatment for all degrees of autism spectrum disorder. Another benefit to schools is the availability of training programs and classroom materials that will enable teachers to learn within the school, eliminating the need for costly travel and conferences. While students are always worth an investment, it is a sad reality that many schools lack the proper funding for such travel.

ABA therapy offers great benefit to teachers and school employees and allows professionals to teach children in a way that truly helps them learn. ABA therapy uses repetitive trials to teach children with an autism spectrum disorder to literally change the way they think. While most students inherently have the ability to infer meanings and concepts through observation, students with autism lack this innate ability. The good news, however, is that through repetition and diligent teaching, the synapses within their brains can literally be rewired so that they are able to think much like other students.

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