Developmental Delays of Children Affected with Fragile X Syndrome
Fragile X syndrome is a sex-linked genetic disorder. Individuals with fragile X syndrome (FXS) have a defect in the FMR1 gene. This gene is located on the long arm of the X chromosome. ... This syndrome effects 1 in every 1,000 to 2,000, males. A male who inherits a fully mutated gene will show signs of Fragile X Syndrome, because their only X chromosome is a mutated a gene. A female may not be as severely affected, because she has two X chromosomes. ... Females are also affected, but generally have a mild form of impairment. 15% to 20% of the people diagnosed with Fragile X Syndrome display autistic-type behaviors, poor eye contact, hand-flapping or odd gesture movements, hand-biting, and poor sensory skills. Other symptoms displayed also include speech and language delays, attention deficit and hyperactivity, anxiety and unstable mood. ... While most affected by the mutation have a characteristic look there are some that do not have the typical features. (FRAXA, 2002) A DNA test was developed to test for Fragile X Syndrome. The test is accurate in in detecting both carriers and fully-affected individuals. ... Although despite most efforts those affected with FXS remain significantly affected throughout their lives. (FRAXA, 2002) The developmental delays of children diagnosed with Fragile X Syndrome are an area of great debate. Many studies have and are looking at these children trying to discover the norm for their behavior and development. It is already know that most children suffering from Fragile X Syndrome have some form of mental disability. ... Females tend to have fewer and less severe developmental delays, because they have a second X chromosome, if normal, that they are able to use. ... The common idea is that there are developmental delays in children affected by Fragile X. In looking at the developmental delays there are a number of studies that look at a variety of areas. The fives studies that that intrigued me; all included the development of younger children with Fragile X. ... One sibling was affected but the mutated X gene and the other was not. The study then tested for the environmental and genetic influences and how that affected the cognitive development of children with Fragile X (Dyer-Friedman, 2002). In a longitudinal study they evaluated the overall developmental trajectories in five domains. ... A third study compared a group of males with Fragile X to a group of males with idiopathic developmental delays to see if it is possible to distinguish the two in the four behavior problem areas (Kau, 2000). Another study looked at the classroom behavior of elementary school-age boys with Fragile X Syndrome. ... In the fifth study the children with Fragile X, Turner Syndrome, and Neurofibromatosis Type 1 were compared in relation to their math learning disabilities (Mazzocco, 2001). ... The differences in the studies outcomes provide the wide range of ideas that are believed to be true about children that are diagnosed with Fragile X Syndrome. The one thing that seems to be unanimous is that Fragile X results in some sort of developmental delay. However, the areas of the delays and the severities of them are uncertain.