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Things you Need to Know About Fragile X Syndrome


Fragile X syndrome is the nost cotnntonform offanilial nental retardation and is associated with afragile site at the end of long
arn chrotnosonre X. Whilst screening for chrontosoual abnornalities in nentally retarded nales attending special school, we have
identified thefirst fanily with afragile x syndrone, to be reported in Indonesia. ph1,sis.1 exatnination,fatnill, l1isg6r, as well as
cyto9enetic and DNA studies identified tv,o pheno4,pically abnonnal brorhers who were fragile X posirive 3% (Dn) and 4% (pr). Their
sister (Cl) and utother were pheno\,pically and intellectually nornal but were cytogenetically positive for fragile X (6% in the sister
and 3% in lhe nother). Molecular analysis confirnted that both broîhers were afected and that their sister and tnother were carriers.


Signs and symptoms of fragile X syndrome

Physical abnormalities
Symptoms of fragile X syndrome can be seen and recognized from the physical look of the sufferer. Usually the people with a specific disability, such as menyadang:

Face elongated
The foot is flat
The size of the ears look larger than normal and protruding
Low muscle tone
Speaking of stuttering
Often packing-ngeapakan hand
Finger joints with hiperekstensibel
No skin toned, tend to be mushy when touched
Hiperekstensibel abnormalities in the thumb
Testicular size larger than normal

Behavior disorders

Children with fragile X syndrome showed some behaviour that is fairly typical. Children tend to avoid eye contact or physical opposite interlocutor.

Can also be found the symptoms of attention deficit hyperactivity disorder (ADHD), among other difficult to concentrate as well as being hyperactive. Another unique behavior is often do repetitive motion on an ongoing basis, for example to make the movement as being a standing ovation.


Vision of disorder

Though not all, but some people with fragile X syndrome high risk severe eyes squint (strabismus). I.e. a condition where the motion of the two eyeballs are not aligned. Between the eyes of one another with their eyes are not on a straight line while staring at the object. Typically this vision disorder irregularities be addressed through surgery.

Disturbance of intellectual disabilities

Aside from the physical and behavior, we can also see from his intellectual development. Child sufferers of the syndrome fragile X tend to be hard to catch, it works well in a slow read, write or count. According to research, IQ boy Syndrome sufferers on average under the standards, i.e. about 40. While still allowing for women to have a normal IQ. It's just that there is a delay in the mindset.

Other studies also mentioned that the more we get people with fragile X syndrome then his IQ level will be progressively decreased. This decline could reach around 50% of children with intellectual power of normal chromosomes.

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