Sources:

http://www.spinecorporation.com/English/index.htm  http://www.scoliosis.org/resources/medicalupdates/spinecor.php

On September 16, 1998, at an orthopedics symposium in New York City, Dr. Christine Coillard and Dr. Charles Rivard, pediatric surgeons from Sainte-Justine Hospital in Montreal, presented clinical findings on a promising, new, therapeutic approach for idiopathic scoliosis. As pediatric orthopedists, Drs. Coillard and Rivard had long concurred that bracing was the most conservative option available for children with minor scoliosis. However, they also realized the challenges presented by a child’s growth patterns as well as his or her physical and psychological need for normal mobility. Their studies were based upon these challenges, and as a result of their research, the SpineCor® bracing system evolved. Together with their team of researchers from anthropology, biomechanics, and physiotherapy they seek to minimize the three dimensional deformity of scoliosis by addressing what they believe to be four important aspects of the condition, deformation of the spine, postural disorganization, muscle dysfunction, and unsynchronized growth.

According to the SpineCor® website, the benefits of this brace are that it allows patients four hours per day out of brace, and provides total freedom of movement. The brace is more easily concealed under clothing, is more comfortable and cooler to wear, and is less restrictive.

SpineCor® claims no side effects from muscle atrophy which may be caused by rigid bracing, and excellent treatment results, particularly when treatment is started early.

What’s different about the SpineCor brace?

Primarily, the SpineCor bracing method is an adjustable, non-invasive technique that provides flexible, inconspicuous correction that continues as a child moves and grows. Unlike traditional rigid systems, the SpineCor brace consists of four major components: (1) a plastic pelvic base, (2) a cotton bolero or vest, (3) tie bands and (4) four adjustable or “dynamic” bands. Proponents of the brace, distributed by Biorthex, Inc., state that this unique combination of components is simple to use, comfortable to wear, and most importantly, effective in its results. The goal of the dynamic brace is to maintain and improve spinal deformity while re-educating the body to return to a more normal posture.

Does the SpineCor Brace work for everyone?

According to the National Scoliosis Foundation, none of the current braces will work for everyone, and SpineCor is no exception. Biorthex states that results so far are similar to other braces for curves greater than 30 degrees and “the best results” occur with those patients who are skeletally immature with Cobb angle curvatures of less than 30 degrees. While determining the initial degree of measurement is essential to the success of the SpineCor system, the growth velocity of the curve is an even more important factor to consider when choosing the SpineCor brace. Specifically regarding such rates of growth, children experience three major growth spurts that can impact the severity of scoliosis: infantile (before age 2), juvenile (between ages 5 – 10), and adolescent (age 11 or the onset of puberty). Based upon clinical studies with children of all ages, the SpineCor system appears to provide greatest benefit to children between the juvenile and early adolescent stages, which generally occur between the ages of 6 and 11. In addition to the patient’s age, two other factors also tend to influence the success of this bracing alternative. As such, children who are either clinically obese, or girls who have already begun menstruating, would not be considered primary candidates for this type of treatment.

How can a patient get started with the SpineCor system?

Because the system is new, not all physicians are currently equipped to treat patients with the SpineCor brace, but information is readily available to qualified practitioners who routinely diagnose idiopathic scoliosis. The orthopedist may use the digital imaging system and assistant software in their office, or arrange an appointment with either an orthotist or a physical therapist to take the initial body measurements and to arrange for follow-up visits. The brace will then be fitted, and the patient is taught how to use it effectively. Generally, to achieve maximum results, the brace should be worn during the day and may be worn for up to 20 hours at a time. Therapists may offer suggestions for improved body mechanics while wearing the brace, and follow-up visits may be needed every 3 to 6 months, depending on the patient’s growth, to make the necessary adjustments to the elastic bands.

What are the expected results of using the SpineCor brace?

Data from clinical trials presented at the New York symposium in September 1998, revealed the following findings. Specifically, from August 1995 to the present, 41% of patients who met the diagnostic guidelines of skeletal immaturity with a progressive curvature of less than 30 degrees have experienced improvement using the SpineCor system. Among these patients, their curvatures were reduced by 25% to 50%. The study also indicated that another 41% of the patients showed no improvement after using the SpineCor brace, but to date, their curvatures have remained stable. Only 4% of the patients treated with the SpineCor brace noted an increase in their initially diagnosed curvatures. These results so far are very positive, however more long term "out of brace" data will be needed to conclusively show the effectiveness of SpineCor.

How can I receive more information about the SpineCor bracing system?

As with any new mode of treatment, it is always best to begin by speaking with your family physician or a referred specialist. This system shows great promise for young children with mild curvatures, and it will be considered among the available scoliosis treatment alternatives. You may contact the NSF office to ask about the device, or you can contact Biorthex, Inc. directly by calling (514) 382-4800 or visit their website at www.biorthex.com.

SpineCor Contact Details:

For further information about SpineCor Treatment please e-mail: info@spinecorporation.com Please ensure that you include the following information in your email:

Enquiry Type (ie; Patient/Parent/Professional etc)

Your Address Details (State/Country you are emailing from)

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Christopher was diagnosed with CLS in August, 2004. He had a spinal fusion in 2001 on his 10th birthday. He is on seizure medication, ADHD meds, and suffers from high cholesterol and triglycerides.

Mercedes was recently diagnosed with CLS.  Her biological mother may also have CLS but has not yet been tested.  Rhonda Strang adopted Mercedes, her biological niece.

Mercedes seems to have a higher than normal anxiety level and has grown very fearful of doctors.  She screams as soon as she sees anyone in a white coat. Rhonda always asks them to remove their white coats, and then Mercedes is alright.

Rhonda is a member of the online support forum.

Michael is unusually high functioning with mild facial characteristics and nearly normal-looking hands. His genetic testing was done at GeneDx in Gaithersburg, MD and came back positive for the RSK-2 defect, so he definitely has CLS. There may be many other like Michael out there that are currently going undiagnosed because the characteristics are much more subtle.  

He is very small for his age, right at the bottom of the curve. He is able to read a bit, print his own name, and takes care of all his own hygiene and dressing.  

Michael attends a public school in a special education class of 9 other kids with 2 teachers and an occasional therapist. He can operate a computer, is learning to play piano by ear, and is also in guitar lessons.  He also skis and had his first downhill ski race recently. 

Michael’s father, Stephen, is a single parent whose wife passed away from cancer two years ago. He also has a 13 year-old daughter. Both children are adopted. Michael has a half-brother who also tested positive for CLS—his case is more involved. They were not aware of the specifics of Michael’s disability at the time of adoption but based on meeting the mother and meeting Michael (at 6 weeks old), they expected some sort of disability.

Stephen is interested in corresponding with other families.

Stephen Simon, Mississauga, Ontario

Introducing...Luca Zappaterra, Age 8

Sabrina and her family live in Italy. She is married with one son and one daughter, and teaches German.

Hallo everybody!

Our second son Luca, 8 years old, was diagnosed in January 2007 in Italy, where we live. He is a sweet and sensitive boy, he goes to the same school of his sister and attends several rehabilitation sessions: speech, occupational theraphy, cognitive improvement.

For a long time we have been concerned mostly about his mental retardation, but we have now to notice that also his physical development is rather compromised. Luca has big difficulties in coordinating movements - he can't e.g. throw or catch the ball - or run properly.

We are lately concerned about a pain - pins and needles - that he feels in his legs after being sitting for a while. He stands up after dinner for example and complains a formication in the legs. Do you know something about it? Has this happened to somebody else?

Thanks for your help.

The medical name for pins and needles is paraesthesia, and there are a variety of possible causes in otherwise normal people, but this is complicated further by CLS.

Paraesthesia is a sign that sensory nerves in the area of the tingly sensation are being irritated (rather than motor nerves which control movement). This irritation may be the result of disease or damage to the nerves themselves, damage to the blood supply, or disease of the surrounding tissues, such as arthritis, which ultimately affects the nerves.

Almost any condition that can damage nerves may cause pins and needles. In these cases the tingling can be extremely unpleasant, with a raw burning character.

Causes include:

We know that CLS has a neurological component that can progress over time. How and if this plays into this pins and needles phenomenon is unknown. We know that CLS kids can have cardiac involvement causing poor circulation - Reynaud's syndrome has also been reported. Panic and high levels of anxiety are also associated with CLS.  We also know that there is bone deterioration in CLS, and scoliosis is also common - if his spine is not straight, he may be compressing one of the arteries or nerves in his legs while he sits. Any one of these could be a factor in what is going on with Luca.

-MCH

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Unusually mild form of CLS reported

Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome—S Manouvrier-Hanu, J Amiel, S Jacquot, K Merienne, A Moerman, A Coëslier, F Labarriere, L Vallée, M F Croquette, A Hanauer

Abstract

An unreported missense mutation of the ribosomal S6 kinase 2 (RSK2) gene has been identified in two male sibs with a mild form of Coffin-Lowry syndrome (CLS) inherited from their healthy mother. They exhibit transient severe hypotonia, macrocephaly, delay in closure of the fontanelles, normal gait, and mild mental retardation, associated in the first sib with transient autistic behaviour. Some dysmorphic features of CLS (in particular forearm fullness and tapering fingers) and many atypical findings (some of which were reminiscent of FG syndrome) were observed as well. The moderate phenotypic expression of this mutation extends the CLS phenotype to include less severe mental retardation and minor, hitherto unreported signs. The missense mutation identified may be less deleterious than those previously described. As this mutation occurs in a protein domain with no predicted function, it could be responsible for a conformational change affecting the protein catalytic function, since a non-polar amino acid is replaced by a charged residue. (J Med Genet 1999;36:775-778)

This article has been around since 1999, but CLSF has only recently acquired a full copy. In layman’s terms, this medical journal article describes two brothers who undoubtedly have CLS, yet their particular variant of CLS is apparently less deleterious than was previously thought possible.

According to the article, at the age of 10 years, the older brother “spoke well, attended a school for slightly retarded children, read and wrote simple words, counted up to 70, and had been able to dress without supervision since 6 years of age and to reide a bicycle since 7 years of age. He was an easy going, quiet, pleasant boy, who was particularly sensitive to frustrations, which resulted in occasional fits of anger.” The younger brother, at age 7, was “one year behind at school, and had been able to dress without supervision since 5 years of age and to ride a bicycle since 6 years of age. He was a pleasant, hyperactive boy.”

This means that there may be other higher-functioning individuals with CLS who have gone undiagnosed to date because they do not have the classic CLS characteristics. CLS may be less rare than is currently thought.

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Syncope

Fainting (syncope) is a sudden, brief loss of consciousness.

Fainting is a symptom of an inadequate supply of oxygen and other nutrients to the brain, usually caused by a temporary decrease in blood flow. Blood flow to the brain can decrease whenever the body cannot quickly compensate for a fall in blood pressure.

Causes

Fainting may occur if the heart cannot pump enough blood to maintain a normal blood pressure. For example, an abnormal heart rhythm or a heart valve disorder may impair the heart's pumping ability. People with such disorders may feel fine when resting. However, they feel faint or actually faint when exercising because the heart cannot pump enough blood to meet the body's increased demand for oxygen. This type of fainting is called exertional or effort syncope.

An abnormality of the heart called hypertrophic cardiomyopathy can also cause fainting that usually occurs during exercise. This disorder may occur in younger people as well as older people, particularly those who have high blood pressure.

Fainting may occur if blood volume is too low. An obvious cause of low blood volume is bleeding. Another cause is dehydration, which may be due to diarrhea, excessive sweating, inadequate intake of fluids, or excessive urination.

Fainting may occur if the vagus nerve, which supplies the neck, chest, and intestine, is stimulated. When stimulated, the vagus nerve slows the heart. Such stimulation also causes nausea and cool, clammy skin. This type of fainting is called vasovagal (vasomotor) syncope. The vagus nerve is stimulated by pain (such as intestinal cramps), fear, other distress (such as that due to the sight of blood), vomiting, a large bowel movement, and urination.

Fainting may result from very rapid breathing (overbreathing, or hyperventilation), which may be due to anxiety. This type of fainting is called hyperventilation syncope. Overbreathing removes large amounts of carbon dioxide from the body. The decreased level of carbon dioxide causes blood vessels in the brain to constrict, and the person may feel faint or actually faint.

Many other disorders, such as a deficiency of red blood cells (anemia), lung disorders, a decreased blood sugar level (hypoglycemia), and diabetes can cause fainting, especially if the compensatory mechanisms are also impaired.

Certain drugs may cause fainting. They include many of those used to treat high blood pressure, angina, and heart failure. Doses of these drugs must be carefully adjusted to prevent blood pressure from decreasing too much.

Symptoms

Dizziness or light-headedness may precede fainting, especially if the person is standing. After the person falls, blood pressure increases, partly because the person is lying down (and blood can flow to the brain without having to fight gravity) and often because the cause of fainting has passed. However, getting up too quickly may make the person faint again.

When the cause is an abnormal heart rhythm (arrhythmia), fainting usually begins and ends suddenly. Sometimes the person feels palpitations (awareness of heartbeats) just before fainting.

Vasovagal syncope may occur when a person is sitting or standing. It is often preceded by nausea, weakness, yawning, blurring of vision, and sweating. The skin may become cool and clammy. The person becomes ghostly pale, the pulse becomes very slow, and the person faints.

Diagnosis

Doctors try to determine the cause of fainting because some causes are more serious than others. Heart disease, such as an abnormal heart rhythm or narrowing (stenosis) of the aortic valve, can be fatal. Other causes are much less worrisome.

Factors that help doctors make a diagnosis include the circumstances under which fainting occurs, any warning signs before a fainting episode, and the speed of recovery. Descriptions from witnesses of the fainting episode may be helpful. Doctors also need to know whether the person has any disorders and whether the person is taking any prescription or over-the-counter drugs.

If the cause of fainting occurs during stressful situations or is preceded by symptoms of vasovagal syncope (such as nausea, sweating, cool and clammy skin, and paleness), fainting usually is not serious, and extensive diagnostic procedures and treatment are rarely necessary.

Electrocardiography (ECG), which records the electrical activity of the heart, can detect an underlying heart disorder. Continuous ECG may be required to determine the cause of fainting. For this procedure, the person wears a small battery-powered device (Holter monitor). It records the heart's electrical activity for 24 hours or more as the person engages in normal daily activities. If an irregular heart rhythm coincides with a fainting episode, it is probably—but not necessarily—the cause.

Other procedures, such as echocardiography (which uses ultrasound waves to produce an image of the heart (see Symptoms and Diagnosis of Heart and Blood Vessel Disorders: Echocardiography and Other Ultrasound Procedures), can detect whether the heart has a structural or functional abnormality. Blood tests may show that the person has hypoglycemia or anemia.

Loss of consciousness due to a seizure is distinguished from fainting because the causes and treatment are different. To distinguish between the two, doctors may use electroencephalography (EEG), which records the brain's electrical activity. Also, after a seizure, recovery from unconsciousness is much slower, causing drowsiness that usually lasts for at least 10 minutes.

To confirm a suspected cause, doctors may attempt to re-create a fainting episode under safe conditions. For example, the person may be asked to breathe quickly and deeply. Or, while monitoring the heartbeat with electrocardiography (ECG), a doctor may press gently over the carotid sinus (a part of the internal carotid artery containing sensors that monitor blood pressure). This pressure temporarily increases blood pressure inside the carotid sinus, tricking the body into thinking that blood pressure has increased throughout the body. The sinus then sends signals to the brain to reduce blood pressure, and faintness or fainting may result.

Tilt table testing is commonly performed to determine the cause of fainting. The person is strapped to a motorized table, which tilts the person from a supine to an almost standing position. This position is held for up to 45 minutes. Blood pressure and heart rate are continuously monitored during the test. If blood pressure does not decrease, the person is given isoproterenol

(a drug that stimulates the heart), and the test is repeated. Use of this drug makes the test more sensitive.

Treatment

Usually, lying flat restores consciousness. Raising the legs can speed recovery by increasing blood flow to the heart and brain. If the person sits up too rapidly or is propped up or carried in an upright position, another fainting episode may occur. Therefore, the person should remain lying down until fully recovered.

Surgery may be considered for heart valve disorders.

Editor’s Opinion

The type of fainting that we see with CLS seems to be Vasovagal syncope—the description exactly matches what I have seen and what has been reported to me by other parents.  Stimulation of the  vagus nerve can also cause persistent coughing and hiccups. (Overwhelming the vagus nerve with another sensation cures the hiccups.)

CLS kids are known to have problems with GERD, higher than normal levels of anxiety, back pain from scoliosis, potentially painful constipation, etc.  Any one of these could be causing intermittent fainting spells.

Davis has had 4-5 episodes of Syncope over as many years. In one instance, Davis saw a drop of blood on his finger from a hangnail and fainted dead away in his chair. He has also had problems with his stomach - before we figured out what was wrong, he was experiencing a lot of coughing and gagging at meals. In retrospect, I now realize that the acid damage in his stomach was probably stimulating his vagus nerve. Now that he is on Prilosec, the coughing and gagging have stopped. He has also had chronic problems with  his bowels, and when bowel contents start to move after meals, he sometimes breaks out in a sweat from the discomfort.  Either of these conditions could be the cause of the intermittent syncope he has experienced.

My opinion is that in most cases, the fainting, although frightening, is not dangerous in and of itself, assuming they don’t injure themselves in a fall. They should lie down, knees up, and get up slowly when they feel better. However. there could be an underlying problem of which the fainting is only a symptom. If your kids are having syncope, investigate possible underlying condition that could be causing pain, especially in the digestive tract. A cardiologist should also be consulted.

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Constipation and CLS

Constipation means that a person has three bowel movements or fewer in a week. The stool is hard and dry.   Constipation is often a chronic problem associated with CLS.

Causes

Medications

Some medicines can cause constipation.  Ask your doctor whether your child's meds could cause constipation.  

Food Allergies

Cow's milk allergies have been shown to cause constipation. Try switching to soy milk.

Add Fiber to the Diet.

Make sure plenty of water/fluids are in the diet. As you increase your fiber intake, drink lots of fluid along with the fiber - at least 16 ounces of water per serving of fiber. Otherwise, the fiber may actually worsen the constipation.

Exercise

Exercise may increase the muscular contractions of the intestine, thus promoting bowel movements. Exercise is also important for relieving stress, which contributes to constipation.
 

Natural remedies

If all this fails, talk to your doctor about using Enulose, Lactulose or Miralax—these are non-digestable remedies that help keep the stool soft and easier to pass. 

Resources: http://digestive.niddk.nih.gov/ddiseases/pubs/constipation_ez/  http://www.foodallergysolutions.com/constipation.html

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Send your donations to:  

Coffin-Lowry Syndrome Foundation

c/o Mary Hoffman

3045 255th Ave SE

Sammamish, WA 98075 

(U.S. Funds, please)

Donations made after August 9th, 2006 are tax deductible.  EIN 20-3377465 

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