Inherited Mental Retardation
Fragile X syndrome is a genetic disorder of the X chromosome and it is the most common form of mental retardation. Since the time around WWII, fragile X syndrome has been inspiring clinicians and researchers to investigate and explain the disorder. The field of molecular genetics has been particularly helpful in isolating the defected genes and so far there have been many discoveries.
Fragile X syndrome is passed on from parents to children and within the same family there could be more than one member affected, while in others there is only one child suffering from this condition. As this is a genetic disorder, it is evident right at birth, while there are many tests that can be performed during pregnancy to screen for the fragile X syndrome. In case there is a family history of the disorder genetic counseling is advised.
In addition, the fragile X syndrome is characterized by physical, cognitive and behavioral problems and is most often diagnosed in preschool and elementary school. The fragile X syndrome is manifested through an array of problems, some of which include a lack of social skills, ADHD, depression, anxiety and an IQ of below 70. The severity and frequency of problems, as well as the level of functionality, depend on the person’s support system, which include a loving home and opportunity for education, skills training and social interactions.
Not surprisingly, individuals with a rich support system are able to overcome more obstacles and realize their potential. When it comes to the physical aspects of fragile X syndrome, body parts that are affected the most are muscles, bones, genitals and face. There are a couple of variations of the fragile X syndrome whose elements include ovarian failure in women, memory problems, tremors, impotence and hypotension. Further, the syndrome is more prevalent in males and in the US affects 1 in every 2500 to 4000 men and 1 in every 7000 to 8000 women. However, there are far more carriers in the population than there are developed cases of the fragile X syndrome.
It should be noted that the life expectancy of individuals affected by this disorder is the same as that of the general population. When it comes to ethnic prevalence, the fragile X syndrome is equally distributed among all races and ethnic groups, but there are more diagnosed cases in the US than in many other countries. Such a discrepancy may be due to different diagnostic criteria, among other factors. When it comes to predominance among the sexes, females are many times more likely to be the carriers of the defected genes, while the females affected by the syndrome show stronger intellectual abilities than males. Similarly, females usually have less physical problems.
Outpatient Care and Medications
There are many aspects of outpatient care when it comes to the fragile X syndrome. Various forms of counseling are available to both patients and their families, while at the same time medications are used to ease the problems. People who are close to the patient should learn behavior modification and employ it while disciplining and dealing with a person suffering from fragile X syndrome. Also, there are various kinds of classes and workshops that the patients should be involved in based on their abilities and interests. Outpatient programs are especially important for children with fragile X syndrome. Different kinds of stimulants are frequently utilized with those exhibiting the symptoms of ADHD and almost 2/3 of patients show some advancement. Different medications are used to treat different age groups. In some cases, antipsychotic drugs are also employed, but only in the really severe cases of aggression toward others and self. At the same time, most individuals suffering from this disorder are treated with some kind of antiepileptic drug. As anxiety and depression are often present in individuals suffering from fragile X syndrome, selective serotonin reuptake inhibitors are employed, but not in people who have impulsive tendencies.
Research Conducted about Fragile X syndrome
Research about the fragile X syndrome is focused on uncovering the connection between the molecular variations in the defective gene and the symptoms of the disorder present in both children and adults. At the same time, the studies are attempting to explain the relationship between the molecular variations in the abnormal genes and the premutated genes found in persons who are the carriers of the disorder. Many studies involving fragile X syndrome are longitudinal as they follow individuals from childhood into adulthood, while at the same time including the parents and other family members in the research. There are many studies that aside from the genetics also focus on the cognitive and behavioral aspects of the disorder. Finally, there are many research projects that are attempting to compare the fragile X syndrome with other related mental genetic disorders, such as Down syndrome.