What is Fragile X Syndrome
Fragile X syndrome is the most common, heritable and genetic disorder in males. It causes intellectual abnormalities including mental retardation. It is caused due to some changes in the X chromosome. Females may also develop the disorder, but they are less vulnerable because of the presence of two X chromosome in them.
Fragile X syndrome is caused due to a change in the gene FMR1. This gene is responsible for the normal development and growth of the brain. This function is affected in individuals with fragile X syndrome, due to the replication of a part of the gene code in the fragile area of X chromosome.
Fragile X Syndrome Symptoms
- Some of the symptoms of fragile X syndrome are as follows:
- Intellectual and learning disabilities including mental retardation
- Speech and language disabilities and problems in self-expression.
- Increased rate of speech or rambling
- Increased sensitivity to certain sensations and autism-like behaviors.
- Higher incidence-rate of other disorders like ADHD, seizures, dislocation of joints, etc.
- Many infants and young children with Fragile X have no distinctive physical features. Some children have
- As children, some individuals may have very soft and velvety skin, a prominent forehead and /or a little larger head. These abnormalities go away after adolescence.
- Individual tend to be shorter in comparison to family members
- Many males grow enlarged testicles. However, it does not affect sexual development and is not caused due to hormonal imbalance.
- Weakened connective tissues cause loose and flexible joints. In addition, the feet may be flat and the joints like the knee, thumb, and elbow can be extended further than normal.
- Increased predisposition to conditions like hernia and frequent middle ear infections.
- Heart defects causing a heart murmur
- At a later stage in life, males may have difficulty walking and may develop hand tremors.
Social and Emotional features
- Increased social anxiety and discomfort in associating with new people or situations and doing new activities.
- Tendency to get easily upset and rigidity of routine
- Temper tantrums and compulsive acts like biting oneself and repetitively rocking back and forth.
- Hormonal changes may give rise to extreme rage outbursts and increased aggression
Fragile X Syndrome Causes
As mentioned above, fragile X syndrome is caused due to abnormalities in the X chromosome.
Fragile X Syndrome Treatment
Fragile X syndrome has no cure. However the various symptoms can be treated with relevant medications and psychotherapies for behaviour medication and inculcation of skills.
Support Groups for fragile X Syndrome
National Fragile X Foundation – www.nfxf.org
Fragile X Syndrome Pictures
Picture 1 : Difference between Normal and Fragile X Syndrome
Image source: med.unsw.edu.au
Picture 2 : Fragile X Syndrome Chromosome
Image source: wikispaces.com
Picture 3 : Fragile X Syndrome Pedigree
Image source: glogster.com
Picture 4 : Photos of People with Fragile X Syndrome
Image source: findmeacure.com