By: Stan Tian
Fragile X syndrome is also called
as Martin-Bell syndrome. It is a kind of genetic disorder characterized by
inherited mental retardation. This is a genetic abnormality where the mother
acts as the carrier and transmits the disorder to the sons. The incidence of
occurrence of this syndrome is 1 in 1000 to 2000 males but the frequency of the
female acting as a carrier can be more. Males that are affected by this
syndrome have a moderate to severe intellectual handicap. Females can is also
rarely affected, but the impairment is very mild.
It has been seen that people with
Fragile X syndrome have some common physical characteristics like long narrow
face, large ears, and in males they have large testicles. Almost 80 percent of
the males develop at least one of these features but these may not appear until
after puberty. The other characteristics in males include double joint fingers,
puffy eyelids, flat feet and a hollow chest. These features can be a result of
an abnormality related with connective tissue. Females suffering from this
syndrome do not usually show any physical characteristics that are found in
males but they might have large prominent ears.
The behavioral characteristics of
people suffering from Fragile X syndrome are quite similar to that seen in
autism. The most common problem is attention and hyperactivity. This is called
as attention deficit hyperactivity syndrome, which can be treated with
medications. However, the drugs given in the treatment can lead to side effects
like poor appetite and irritation. It is usually seen that children suffering
from Fragile X syndrome benefit from antidepressants or tranquilizers. There
are temper tantrums commonly seen in children with this syndrome, for this,
doctors suggest the use of lithium or fluoxetine. Even anticonvulsants can be
put in use if the child exhibits seizures. This can also help treat
aggressiveness in males suffering from Fragile X.
Children that have Fragile X tend
to give strong reactions to any change in their environment. This can lead to
several behavioral difficulties. They face problems in adjusting to process
external stimuli and become hypersensitive to the environment. This makes it
difficult for them to screen out noises, odors and lights. This leads to sudden
emotional outbursts and temper tantrums. Other behavioral characteristics
include hand biting, hand flapping, poor eye contact, and tactile
defensiveness, which can be a negative response if being touched.
On the other hand, one good thing
about males suffering from Fragile X is that they are good with gatherings and
are socially friendly. There can be speech difficulties and also mental
retardation, which can be compared to Down’s syndrome. Children with Fragile X
tend to repeat words and also have rapid outbursts. The child tends to become
anxious and with speech problems along with difficulty in making eye contact
this problem may worsen. It is important that apart from giving recommended
medications the child should undergo speech and physical therapy sessions to
overcome the other associated behavioral problems.
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