Tag Archives: Rett Syndrome Symptoms

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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Adult Symptoms of Autism

“Autism Spectrum” describes disorders that are often called “pervasive developmental disorders”. These include Asperger syndrome, autism, childhood disintegrative disorder and Rett syndrome. Symptoms for these disorders include social deficits, difficulties communicating, repetitive behaviors, stereotyped behaviors and cognitive delays. The difference in the individuals with these disorders are in the severity experienced.

In your search to read more about the symptoms of autism in adults you encountered a lot of sights sponsored and supported by the pharmaceutical industry, who, at present, is quite alarmed that they might lose the battle against autism and Alzheimer’s to the alternative medical professions utilizing integrative modalities of care.

One reason people develop the symptoms of Pervasive Developmental Disorders (PDD) is because when they went to their regular doctors for checkups, and blood tests were performed, the doctors and laboratories that did the testing used normal ranges. What’s wrong with using ‘normal ranges’?

Doctors order blood tests all the time. What the normal range is on the blood test is based on the mean averages of the last 1000 people tested by the lab. But these people are not well and the ranges are too large. A more healthy range is a more narrow range…that is the optimum range. Had the doctors of these patients with alzheimer’s, before they had Alzheimer’s, told them that their blood values were less than optimal, even though they were barely within clinical ranges of normal, then they could have taken measures to correct these less than optimal blood values. A more stringent range encourages us to take healthy measures before we are stricken with an ailment as distressing as Alzheimer’s.

Often people’s values fall into the ‘normal’ range, they are told, “all is well”, and yet they feel chronically fatigued, not quite right, have anxiety and depression, or are beginning to have the cognitive symptoms of adult autism and they don’t know why…after all the blood test says there is nothing wrong with them. Then one day, John Doe dies of a heart attack and everyone thought he was doing fine.

Blood is a good indicator and in the work I do I use a more narrow range, a more stringent range. I make corrections BEFORE problems progress to a more serious state. With cancer now exceeding cardio-vascular as the major cause of death in the U.S. we have to react preventatively well in advance of major diseases. And with PDD on the rise in our youth and in adults we have to make blood and hair value corrections early enough to prevent changes on deeper levels – do nothing and health gets worse!

Adding a hair analysis to the equation makes good sense. It tells us about many items that are not usually tested in the blood. In the work I do I test for 52 items in the blood and 30 in the hair. The hair can show us which of 18 heavy metals have accumulated in our tissues. These heavy metals may be responsible for PDD and other ailments for which, as of yet, the regular medical profession says they do not know cures.

For those with adult symptoms of autism a urine and stool analysis should be considered as well. Constant depletion of nutrients from the body affects brain function. Heavy metals also have the ability to block chemical reactions in the body thereby depleting vitamin stores and causing the production of free radicals. Free radicals interfere with chemical pathways. The more we are unable to create all the molecules we need for normal function the more we are running on 3 cylinders!

Aluminum has been implicated in alzheimer’s. A hair analysis will show aluminum in the hair. The heavy metals and the essentials elements, mostly minerals, that the hair analysis will pick up, are an indication of what the body is trying to get rid of. The body uses hair to deposit unwanted substances. When aluminum is high in the hair it indicates that the body is doing well eliminating the aluminum but it also means that the aluminum shouldn’t have been there in the first place.

Dr. Thomas has 33 years of experience treating chronic conditions.

Treating chronic disease is a complicated and tedious work. Most physicians can only spend a few minutes with each patient as their clinic owners and hospital management force them to keep on the move. Dr. Thomas spends half an hour just explaining what tests will be done…then he spends an hour going over the test results with you and discussing nutrient cures. He also requests that you check in with him once a month for at least a half hour to go over your symptoms and to discuss your nutrients.

33 years experience has taught Dr. Thomas the value of quality care, personal patient/doctor interaction and just what is required to obtain lasting results.

Refer to my website for more information on this topic and to watch videos from the television show I do on Nutritional Medicines by Lab Analysis.

Adult Symptoms of Autism

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