Fragile X Syndrome and Its Impact on Children's Language - Essay Example

The condition, also called Martin-Bell syndrome, is statistically moderate to severe in boys and normally manifests a mild form of impairment in girls. From 15% to 20% of those with Fragile X syndrome (FXS) exhibit autistic-type behavior such as "poor eye contact, hand flapping, and poor sensory skills" (Edelson, 1995, para. 2). Males with fragile X syndrome may exhibit autistic-like behaviors, but it is not a major cause of autism. About 15 percent of persons with fragile X syndrome may meet diagnostic criteria at some point in their lives.

The figure above shows the most common fragile X mutation- an expansion of extra DNA within a specific component of the FMR1 gene. In the premutation, the expansion is relatively small, however, in the full mutation the expansion is quite large and is usually accompanied by abnormal methylation. The presence of abnormal methylation leads to decreased production or absence of the FMR1 gene's protein product, called FMRP. The specific function of FMRP in the human brain is currently under study; current evidence suggests it may be involved in the regulation of proteins produced by other genes.

Certain physical characteristics can be seen in an individual with fragile X syndrome. . Other recognizable features are high-arched palate, strabismus (lazy eye), and, sometimes, mild heart valve abnormalities. Blood tests to determine levels of fragile X mental retardation protein can be done to diagnose the condition and several treatments can be undertaken as well as use of mild medications and therapy for speech, language and sensory improvement. Genetic counseling is recommended (Edelson, 1995).

In 1991, the fragile X gene (FMR1) was characterized and found to contain a tandemly repeated sequence, and the larger the size of this permutation in a woman, the more risk that full mutation can occur in her offspring (Fragile X: Diagnostic, para. 3). The genotype can be determined more accurately with DNA testing. Full mutation occurs with one in 3,600 males and one in 4,000-6,000 females (Smith, 2006). Various degrees of mutation, however, occur in one in 1,200 males and one in 2,500 females, and testing should be considered in the following cases:Individuals of either sex with mental retardation, developmental delay, or autism, especially if they have (a) any physical or behavioral characteristics of fragile X syndrome, (b) a family history of fragile X syndrome, or (c) male or female relatives with undiagnosed mental retardation.

Individuals seeking reproductive counseling who have (a) a family history of fragile X syndrome or (b) a family history of undiagnosed mental retardation. Fetuses of known carrier mothers. Patients who have a cytogenetic fragile X test result that is discordant with their phenotype. These include patients who have a strong clinical indication (including risk of being a carrier) and who have had a negative or ambiguous test result, and patients with an