Autism and autism spectrum disorders are very common these days. Many people especially children, suffering from autism are also required to be investigated for other associated disorders that very few people are aware of. One such disorder is Fragile X syndrome.
Fragile X syndrome is a genetic disorder, in which there are changes in the gene named fragile X mental retardation 1 (FMR1). This gene is responsible for making a protein, which is required for normal brain development. Changes in this gene cause developmental problems ranging from impairment in cognitive development to learning difficulties. This syndrome can affect both men and women however women may exhibit less severe symptoms as compared to men.
How to spot it?
As in Fragile X syndrome, the gene responsible for brain development undergoes changes, people affected with it may have impairment in intellectual functioning. This is usually found in areas of learning, reasoning and problem solving. Most of the affected males may have mental retardation or learning disabilities of varying degrees. Females are less severely affected as they have another X chromosome to compensate.
Some of the physical signs observed are flexible joints, large body and head, low muscle tone, long face and prominent jaw and ears. Many of the physical signs may be visible after puberty. Other symptoms include, developmental and speech and language delays, hand flapping, hyperactive or impulsive behavior. Tendency to avoid eye contact and social problems are also commonly seen.
How is it diagnosed?
Genetic testing is done to confirm the presence of a fragile area on the long arm of X chromosome.
How is it managed?
· The personality and preferences of the individual are studied and a daily routine is planned;
· Areas of interest of the individual are found and used to make learning easy, like using visual signs, or pictures, etc;
· Allowing children to play actively and then giving time for relaxing after the activity is over;
· Setting individual functional and academic goals;
· Providing positive support and encouragement for their efforts.
