What is Fragile X Syndrome ?
Fragile X Syndrome is a genetic mental disorder or retardation. It is one of the most common inherited disorders in human. The syndrome is dominant in all racial groups and affects the development of the person. The disorder can eventually impair the learning capability along with the personality of the person. The most common area of impairment for Fragile X Syndrome is the Communication Skills, Physical Appearance and also sensitivity towards the noise and light. This is a type of Intellectual and Development Disability (IDD) and often leads to Autism. The patient might have some serious behaviour problems. However, the severity and the impact of the Syndrome vary with individual.
Symptoms of Fragile X Syndrome
The symptoms of the disorder have wide range of variety. It entirely depends upon the person and the severity of the disease. The symptoms may or may not be found on the patient depending upon the criticality of the disease. The symptoms of the disorder are widely divided into two parts, Physical and behaviour.
Physical: The physical or appearance symptoms are absent during the childhood. A person cannot detect the Fragile X Syndrome in a kid based upon the appearance. However, as the child grows the symptoms become prominent and evident. The person suffering from the syndrome generally has Narrow Face and Large Head. The most common physical features of Fragile X Syndrome are the following.
- Narrow Face
- Large Head
- Large Ears
- Flexible Finger Joints
- Large Forehead
- Flat Feet
- High palate
The symptoms become more and more prominent with the growing age. The symptoms can clearly understood from the time of Puberty.
- Behaviour: The people suffering from the Fragile X Syndrome are having prominent behaviour problems. All the problems can be clearly understood and would be abnormal. The most common behavioural problems are the following.
- Intelligence: It has been found that person having Fragile X Syndrome show various kinds of intelligence problems. The problems and the severity depend upon the criticality of the situation. The person might have lack of learning capabilities as well problems with analytical skills. The situation might get worst and person might have less developed mental development. The logical and reasoning part of the intelligence might also suffer from Fragile X Syndrome.
- Social: The Fragile X Syndrome has huge impact on the Social Life as well. Evidences show that the person having the disorder are not social and suffer from anxiety and nervousness in new environment. Also shyness, hyperactivity and aggressiveness can be found out in front of the others. It is widely found that the disorder affect the Language Learning skills and as well as the speech Processing. Person suffering from the disorder learn no voice modulation and also lack to anticipate among people. Another very common symptom of the disease is sensory issue from bright light and noise.
Causes of Fragile X Syndrome
The cause of the symptom or disorder is entirely genetic. Fragile X Mental Retardation Protein or FMRP is one of the proteins which is found in the X Chromosome. The gene which contains FMRP is called FMR1 Gene. However, the change or mutation of the gene might cause absence of the protein the body. This protein helps to connect brain cells and with nervous system. However, absence of the FMRP can make retard and person would develop Fragile X Syndrome.
However, the FMRP and the Fragile X Syndrome have many more complexities. If the mutation of the gene is small in amount then the Syndrome will not be very prominent whereas if the mutation is large then the person might suffer a lot. It also depends upon the number of cells went for mutation containing FMR1 gene. The lesser are the number genes, the milder is the disorder. It has been scientifically seen that body can produce FMRP and if the amount of FMRP is not very less then body can make up, but if it is considerably low then it became dominant.
The naming convention of Fragile X Syndrome came from the X chromosome. This is the reason why, girls are less susceptible to Fragile X then boys. Girls are having two X chromosome, hence the chances of making up for the FMRP is higher than the boys who have one X and one Y chromosome.
Treatment of Fragile X Syndrome
There is no approved medication available for the Fragile X Syndrome. However the effect of the Syndrome can be minimized by the various other techniques or treatment.
The most common type of treatment is the proper education for the child. If the child is having Fragile X Syndrome then he or she should undergo special education plan as accordance with the type of disorder. The education plan might include parents, caregivers and even teachers.
One the other hand special therapies like Language Therapy, Speech processing therapy might help the kid to overcome the problem.
Is fragile x syndrome dominant or recessive?
This is a unique syndrome which draws the classification between Dominant and Recessive. Many of the researchers found many dominant factors in yet it can be declared as the Dominant inherited disorder. However, the medical experts call it neither dominant nor recessive or in between the two to be more specific.