Fragile X Syndrome - Condition and Symptoms
Fragile X is the name given to several genetic conditions caused by an abnormality in the FMR1 gene. The FMR1 gene is found on the X chromosome and is responsible for producing a protein that is important in brain development. People with the Fragile X gene have a deficiency of this protein, which can result in delays or abnormalities in learning, behavior, and speech development. Fragile X is so named because of its shape: one of the legs of the X appears to be broken. While some people with Fragile X are mentally and developmentally affected (Fragile X Syndrome), others have no noticeable symptoms of the condition. Because females have two X chromosomes, if only one X chromosome is affected, they have fewer and milder symptoms of Fragile X.
Because of the disruption of brain development caused by lack of the protein produced by the FMR1 gene, Fragile X Syndrome (also known as FXS) is the most common cause of inherited mental development delays or retardation. Some people with Fragile X Syndrome are profoundly affected and may be either mentally retarded or autistic. Others have learning disabilities and delays in acquiring speech and language.
Some people who carry the Fragile X gene do not have the syndrome and the abnormal gene may cause no symptoms. Some people who carry the Fragile X gene have “fragile X-associated” disorders. Fragile X-associated tremor/ataxia syndrome affects balance, tremor, and memory in some males, and Fragile X-associated primary ovarian insufficiency causes problems with ovarian function in some females.
Pregnant women can avail themselves of prenatal testing if they suspect this condition runs in the family. If a child or adolescent has some of the common physical characteristics, mental and developmental symptoms of the syndrome and Fragile X Syndrome is suspected, the initial diagnosis can be confirmed by molecular genetic testing of the FMR1 gene. Because no two people necessarily share the same symptoms of Fragile X, even in the same family, Fragile X can be difficult to diagnose.
Symptoms of Fragile X are abnormalities or delays in 1) learning and other cognitive skills, 2) speech and language development, 3) physical coordination, and 4) social and emotional functioning. During adolescence, certain physical features of Fragile X become apparent, especially among males with this condition. They are an elongated face, prominent jaw, large ears, and, in males, larger than normal testes. In addition, the symptoms of behavioral and cognitive difficulties may be more noticeable during adolescence.
Although there is no cure or definitive treatment for those affected by Fragile X, children who are diagnosed at an early age benefit from appropriate education, behavioral or physical therapy, and medication.
Filing for Social Security Disability with a Diagnosis of Fragile X Syndrome
Fragile X Syndrome is discussed Section 10.00 Multiple Body Systems – Adult and in Section 110.00 Multiple Body - Childhood Disability, in the Blue Book, the sections that are mostly concerned with mosaic Down syndrome. In both of these Sections, the Social Security Administration (SSA) recognizes Fragile X Syndrome as one of the impairments that can cause disability by interfering with development, but it does not have a specific listing for Fragile X Syndrome. With no specific set of criteria to establish disability when a person has Fragile X Syndrome, applying for Social Security Disability benefits because of a diagnosis of Fragile X Syndrome can be difficult.
The overriding concern of SSA in granting disability benefits is not your condition and not the severity of your condition, but rather the limitations your condition imposes. Therefore your your “residual functional capacity” is the factor that must be stressed when you file for disability benefits. If you do not have the residual functional capacity to obtain and keep gainful employment because of the symptoms of Fragile X Syndrome, then you may be eligible for disability benefits. However, your medical documentation must show 1) a chromosomal analysis and diagnosis of your condition and 2) how the symptoms of your condition prevent you from working.
Your Fragile X Syndrome Disability Case
If you are disabled because of Fragile X Syndrome that is so severe it prevents you from working, you may well be entitled to Social Security Disability benefits. Although total disability based on a diagnosis of Fragile X Syndrome can be difficult to prove compared to other disabling conditions, working closely with medical professionals and a qualified Social Security Disability attorney or advocate to collect and present the appropriate documentation to support your disability claim in front of the Disability Determination Services (DDS) can help to ensure that your Fragile X Syndrome disability case will have the highest possible chance of success.