Genetic and environmental factors in idiopathic scoliosis etiology

Scoliosis is a condition that has been discussed and studied for centuries and which can be defined simply as an abnormal curvature of the spine that is encounter in infants, young children and adolescents. While this condition has been known to medial science for some time there is still no definitive answer to the etiology of this condition, particularly with regard to Idiopathic scoliosis. Among the multifactor causative factors that are suggested is the possibility that genetic abnormalities may be a directly related to this condition - a view that is supported by the latest genetic research in this area. Treatment varies according to the type and severity of the scoliosis and can range for supportive castings to surgery and steel attachments to correct the curvature. There have in recent years been many advances in the treatment of sclerosis. However, as experts in the field note, the best treatment of scoliosis would be to understand the fundamental causative factors and to find a cure for this extremely debilitating condition.

Source: (http://www.childsdoc.org/spring2002/lookscoliosis.asp)

1. Definition and overview

Scoliosis is derived from the Greek skol which means twists and turns, or 'crookedness'. (Scoliosis, Kyphosis and Spine Deformity) Scoliosis is commonly defined as, "... A curving of the spine. The spine curves away from the middle or sideways" (Scoliosis)

However, the proper description of this condition is more complex. As one expert states, "Although it is common to speak of scoliosis in terms of spinal curvature in the coronal (frontal) plane, it is actually a three-dimensional problem composed of torsion, angulation, and translation simultaneously occurring in the transverse, coronal, and sagittal planes..." (King and Sarwark) Scoliosis is also described more concisely as a "... musculoskeletal condition that primarily affects children and adolescents, in which there is an abnormal lateral curvature of the spine, causing the spinal column to bend to the left or right." (Scoliosis, Kyphosis and Spine Deformity)

Scoliosis affects about three percent of the population. It is also a condition that has been discussed for thousands of years. (Scoliosis, Kyphosis and Spine Deformity) Furthermore, it is reported as being the most common disorder of the spine encountered by pediatricians and pediatric orthopedic surgeons. (King and Sarwark)

Scoliosis is usually divided into three main categories - which are also related to its etiology. Congenital scoliosis is linked to embryological malformation of one or more vertebrae and may occur in any location of the spine. (King and Sarwark) it is also significant that in children who suffer from congenital scoliosis there is also a high risk of other congenital defects and abnormalities, particularly with regard to the heart. (King and Sarwark)

The second category is Neuromuscular scoliosis. This is described as encompassing "... scoliotic spine deformities that are secondary to neurologic or muscular diseases." (King and Sarwark) This is related to diseases like cerebral palsy and muscular dystrophy. Lastly, we have Idiopathic scoliosis. This is the development of an abnormal curvature go the spine where there is no apparent or discernable cause. (King and Sarwark) This is the most difficult category to determine in terms of causation and it usually occurs in children who are otherwise completely healthy.

3. Diagnosis

In technical terms, Scoliosis is technically defined "...by the presence of a lateral curvature in the spine of >10 degrees deviation from straight upright." (Scoliosis, Kyphosis and Spine Deformity) in more practical terms, infantile scoliosis is commonly detected by observation in the first six months using a standard medial physical examination. It is often noticed by the parents as well. (Scoliosis, Kyphosis and Spine Deformity)

If this condition is suspected the initial examination is followed by more extensive neurological examination, as well as examination of the extremities. Furthermore, "...A spinal MRI, a sophisticated radiological imaging technique, is essential to confirm the findings of the neurological exam and rule out other potential causes of scoliosis." (Scoliosis, Kyphosis and Spine Deformity)

4. Treatment

In general there are at present three main treatment procedures that are applied. These are - observation, bracing, and surgical correction. However, it is also important to note that the type and most appropriate form of treatment for the particular patient depends on a number of variables, such as the severity of the spinal curvature and the likelihood that the curvature will worsen in the future. (Scoliosis, Kyphosis and Spine Deformity)

Bracing has been found to be particularly effective in the treatment of infants who are identified with Scoliosis.

Another related method that is applied is the use of castings to correct the spinal curvature. "The cast is made of plaster or fiberglass, and is applied in the operating room under general anesthesia..." (Scoliosis, Kyphosis and Spine Deformity) the cast are replaced later by more permanent braces in order or maintain the correct angle of the spine. (Scoliosis, Kyphosis and Spine Deformity)

Surgery is sometimes used to correct this condition if the spinal curvature is extensive. This method is also applicable to skeletally immature patients. Metal rods may also be used and are attached to the spine to maintain the curve correction. (Scoliosis, Kyphosis and Spine Deformity) of course, as many experts state, the best form of treatment would be to find a cure. "We would certainly like to have a better treatment for young children than the brace; a better corrective method than surgery. Understanding the cause is the first step in finding a cure." (Sponseller) Modern research is intensively engaged in finding the central cases of this condition in the hope that a cure can be achieved in the near future.