Research Assignment on Fragile X Syndrome Cesar Betancourt Child Growth and Development Maria C. Adams 11-1-17 What is Fragile X Syndrome The disability Fragile X Syndrome is a genetic condition that causes many developmental problems including intellectual disability, and behavioral and learning challenges, it also causes various physical characteristics. Fragile X can occur in both female and male genders about 1 in 4, 000 males and 1 in 8, 000 females have Fragile X syndrome it's mainly common in the male gender with greater severity. Fragile X is caused by the expansion of the Fragile X Mental Retardation 1 (FMR1) gene on the X chromosome, known as a gene mutation. The X chromosome is one of two sex-determining chromosomes. When the gene expands, it switches off the production of a protein that is involved in brain development and other functions. This protein is important for creating and maintaining connections between cells in the brain and nervous system. The mutation causes the body to make only a little bit or none of the protein, which often causes the symptoms of Fragile X. People with Fragile X does not all has the same signs and symptoms, but they do have some things in common.
Symptoms and Impact of Fragile X Symptoms are often milder in females than in males. Many people with Fragile X have problems with intellectual functioning. The problems with intellectual functioning can range, such as learning disorders or problems with mathematics, or they can be severe such as intellectual or developmental disability. Fragile X can affect the ability to think, reason, and learn. People with Fragile X also have attention disorders, hyperactivity, anxiety, and language-processing problems. For the physical effects, most infants and younger children don't have any specific physical features of this syndrome. When these children start to go through puberty, many will begin to develop specific features that are typical of those with Fragile X. These types of physical features are a narrow face, large head, large ears, flexible joints, flat feet, and a prominent forehead. The features tend to become more noticeable as the person starts to become older.
Children who have Fragile X have some behavioral, social, and emotional challenges. When they are young, they get afraid or anxious when they are facing new types of situations, they also have trouble making eye contact with people. Boys have trouble paying attention and tend to be aggressive, girls are shy around new people, have attention disorders and problems with hyperactivity. Most boys with Fragile X have problems with speech and language they may have trouble speaking clearly, may stutter, or may leave out parts of words. They may also have problems understanding other people's social cues, such as tone of voice or specific types of body language. Girls with Fragile X usually don't have severe problems with speech and language. Some children with Fragile X will begin talking later t...