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Adolescent Idiopathic Scoliosis and Genetics

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Adolescent Idiopathic Scoliosis and Genetics

Receiving a diagnosis of adolescent idiopathic scoliosis (AIS) can be frightening news for parents and their affected child. It’s a diagnosis that raises many questions. Until now, when it comes to AIS, health care professionals are faced with significant uncertainty. Particularly when it comes to the biggest question of all—what lies ahead?

Adolescent Idiopathic Scoliosis (AIS)

Adolescent Idiopathic Scoliosis (AIS) is the most prevalent pediatric deformity, affecting 2-3% of the population.1-3 AIS is a disease found only in humans4 with no single known cause, making it a multi-factorial condition. A strong genetic link was long suspected in AIS due to anecdotal observations of inheritance patterns in AIS patients.

Did You Know
  • The SCOLISCORE Test is the first and only test proven to give doctors insight into the possible progression of AIS.
  • The SCOLISCORE Test is a laboratory test performed on your child’s DNA from a saliva sample obtained in a physician's office
 

It wasn’t until 1968, 15 years after Watson and Crick reported their discovery of DNA,5 that Wynne-Davies reported that AIS was indeed familial and suggested that it was caused by either dominant or multiple gene inheritance.6 This view was further supported by work performed by others over the next 40 years.7-13 Though 2 – 3% of the general population are diagnosed with AIS, only a very small percentage of those patients (1 – 4%) experience a curve progression requiring multi-level instrumentation and fusion.14 The ability to predict which curves will progress to the point of requiring surgery in patients presenting with a mild scoliotic curve (Cobb angle 10 – 25°), has remained a challenging problem for decades.

The SCOLISCORE™ AIS Prognostic Test.

In collaboration with Axial Biotech, DePuy Spine and Smith & Nephew introduces a major advance in the management of AIS, the SCOLISCORE™ AIS Prognostic Test. The SCOLISCORE Test is a 53 genetic marker panel that provides greater insight into the likelihood of AIS curve progression. When used in conjunction with existing radiographic tools, this new test of AIS progression empowers informed treatment decisions leading to confidence in patient care.

Dominant
Dominant refers to the relationship between two versions of a gene. Individuals receive two versions of each gene, known as alleles, from each parent. If the alleles of a gene are different, one allele will be expressed; it is the dominant gene. The effect of the other allele, called recessive, is masked.
Source: www.genome.gov
Gene Inheritance
An inherited trait is one that is genetically determined. Inherited traits are passed from parent to offspring according to the rules of Mendelian genetics. Most traits are not strictly determined by genes, but rather are influenced by both genes and environment.
Source: www.genome.gov
Instrumentation
Implants used to support a spinal fusion.
Radiographic
An image produced on a radiosensitive surface, such as a photographic film, by radiation other than visible light, especially by x-rays passed through an object or by photographing a fluoroscopic image.
Source: www.dictionary.com
 
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The SCOLISCORE AIS Prognostic Test was designed and validated by Axial Biotech, Inc.
and is co-marketed and sold by both DePuy Spine, Inc. and Smith & Nephew, Inc.

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Indications for Use:
The SCOLISCORE™ AIS Prognostic Test is intended for in vitro use only. The SCOLISCORE Test is indicated for Caucasian, adolescent males and females between the ages of 9-13 years with a mild curve (Cobb angle 10-25°). This test utilizes DNA extracted from a saliva specimen in a polymerase chain reaction to detect the genotypes for genetic markers found in clinical trials to be associated with severe curve progression in patients diagnosed with Adolescent Idiopathic Scoliosis (AIS). Results from the SCOLISCORE Test are intended for use as an adjunct to existing clinical and radiologic information to determine the risk of curve progression. For additional information regarding indications for use, please see the SCOLISCORE Test package insert.

Caution:
The SCOLISCORE™ Test is designed to accurately predict the likelihood of severe curve progression for patients diagnosed with Mild AIS and who received a SCOLISCORE in the Low Risk Classification (1- 50). Therefore, care should be exercised when utilizing the risk of progression for patients in the Intermediate Risk (51 � 179) and High Risk Classifications (180 � 200). The SCOLISCORE Test information should always be interpreted with all other clinical factors when determining the appropriate clinical treatment and care of patients. Under Federal law, this test may only be performed on the order of a physician and its results may only reported to the ordering physician.

DEPUY SPINE™, the DePuy Spine logo and SCOLISCORE™ are trademarks of DePuy Spine, Inc.