Explanation of Fragile X syndrome
Fragile X syndrome(FXS) is a genetic disorder that creates a variety of developmental issues which contains, learning disorder and cognitive impairment. Normally, males are most likely to be harshly affected by FXS than females. Individual that have this disorder, generally have slowed growth of dialogue and vocabulary by age 2.
Causes of Fragile X syndrome
Fragile X Syndrome (also known as FXS) is created by gene mutation. Gene mutation is the growing or enlargement of FMR1 (fragile-X mental retardation) gene on the X chromosome. The X chromosome is the common chromosome between male and female rather than the Y chromosome. When the FMR1 gene grows, it turns of the construction of a protein …show more content…
Some people have seizures. Physical features include large ears, a long face, a prominent jaw and forehead and flat feet. aggression, hyperactivity, impulsivity, nonsense word repetition, repetitive movements, self-harm, or persistent repetition of words or actions, learning disability or speech delay in a child flaccid muscles or problems with coordination, large ears, speech impairment, anxiety, double jointed, enlarged head, enlarged testicles, flat feet, lazy eye, long thin face, prominent jaw, scoliosis, single line on palm, sunken chest, or tremor
Methods of diagnosis
There is only one method to diagnose a person with fragile x syndrome. It is done through a DNA blood test. The exact test that is required is: DNA studies for Fragile X syndrome. Five to ten millilitres of blood are collected into a lithium heparin or EDTA tube. The doctor will check which anticoagulant (anticlotting medicine) is required by the laboratory. The blood is then transported immediately without freezing.
Treatment
Fragile x has no cure but it has many treatment methods to reduce the numerous symptoms. Psychological, occupational, physical, and speech therapies can be used to help the