Diagnosis and Treatment

Diagnosis and Treatment

Diagnosis

  Like all diseases, the first step is the acceptance that something is not right.  This relies heavily upon the ability to recognize and interpret the symptoms when they are present.  In regards to AT in particular, this can be particularly difficult.  Since AT is a disease that affects children from a young age, it is often difficult to recognize these symptoms until the child is older, as slurred talking, drooling and poor motor skills are not uncommon for young children.  For this reason, this is often one of the most difficult yet important stages in the diagnosis process.

Methods of Diagnosis

Single-Gene Testing (Limited)

Sequence analysis of ATM is performed first followed by gene deletion and or duplication analysis in chromosomes in body cells

Multi-Gene Testing

Similar to single-gene testing but it also accounts for various genes that are commonly affected by the ATM gene to check for variation due to mutation.

Comparison of Multi and Single Gene Testing

Immunoblotting for ATM

 A process by which antigens can be separated by electrophoresis and allowed to adhere to nitrocellulose sheets where they bind non-specifically and then are subsequently identified by staining with appropriately labeled antibodies.

MRI

Used to monitor brain development and to observe whether brain function is diminishing over an extended period of time.  This is also important for locating where loss in brain activity is located.  For instance AT tends to affect the cerebellum, the center of the brain responsible for motor skills almost exclusively.  This can help narrow down the diagnosis but cannot ultimately determine if it is AT (other diseases affect the cerebellum as well).

Alpha-Fetoprotein Levels

For reasons unknown to scientists, AT patients tend to have elevated Alpha-Fetoprotein (AFP) levels above 10ng/mL.  In no way does this correlate with neurological defects but it does occur in 95% of AT patients.

Chromosome Analysis

Chromosomal transposition occurs often (10-15% of patients), usually occurring between chromosome 7 and 14.  Chromosomal breaks are also quite common, which can occur with any the chromosomes.  Breaks are often one of the easiest ways to diagnose AT as it indicates a malfunction with the ATM gene, thus narrowing down the possibilities tremendously.

Treatment

Present

As of today, there stands no treatment or prevention of AT.  Much of the health care provided for AT patients is in regards to increasing their life expectancy.  As AT is a disease that often targets the immune system causing immunodeficiency in patients, this puts patients at an increased risk of getting infections.  In order to ward off these infections, antibiotics are used.  Patients are also given immune globulin injections as well as blood transfusions (blood contain white blood cells) in order to boost patients immune system in order to help the body fight off illness. 

Future

Similar to how cancer has yet to have a cure, AT does not have one either.  This is because they are both accentually trying to solve the same issue.  In both cases, they are working to find a cure to restore the natural rate of cell division and the ability for the body the repair DNA strands by reactivating the ATM gene.  The distinction is that AT can cause cancer but cancer cannot cause AT.  Due to the similarities in the two diseases, consequently the solutions are similar, and today that means stem cell research.  Additionally, SMRT compounds are also being researched heavily but more as something that could help extent life expectancy of AT patients.