Good evening friend!!!
Today was very hectic...what about yours???
I got one document prepared by genetics for Fragile x people with all basic information both in Hindi as well as English..
good na..SO, i just thought to share that here...
Save children, their childhood and their future by reading it and sharing it!!!!!!!!!!!!!!!!!!!
Fragile X Syndrome
What is Fragile X Syndrome?
Fragile X
syndrome is a hereditary condition which causes a wide range of mental
impairment, from mild learning disabilities to severe mental retardation. It is
the most common cause of genetically-inherited mental impairment. In addition
to mental impairment, fragile X syndrome is associated with a number of
physical and behavioral characteristics.
What are
the Common Symptoms?
Common
parental concerns that might bring such a child to a pediatrician’s attention
include:
·
mental impairment, ranging from learning disabilities
to mental retardation
·
attention deficit and hyperactivity
·
anxiety and unstable mood
·
autistic-like behaviors
·
long face, large ears, flat feet
·
hyperextensible joints, especially fingers
·
Seizures (epilepsy) affect about 25% of people with
fragile X
Boys are
typically more severely affected than girls. While most boys have mental
retardation, only one-third to one-half of girls have significant intellectual
impairment; the rest have either normal IQ or learning disabilities. Emotional
and behavioral problems are common in both sexes.
About 20%
of boys with fragile X meet full criteria for autism. Most boys and some girls
have some symptoms of autism, but many tend to be very social and interested in
other people.
What Causes
Fragile X?
In
1991, scientists discovered the gene (called FMR1) that causes fragile X. In
individuals with Fragile X, a defect in FMR1 (a "full mutation")
shuts the gene down. Like a defective factory, FMR1 cannot manufacture the
protein that it normally makes. Other individuals are carriers: they have a
small defect in FMR1 (called a "premutation") but do not show
symptoms.
The
FMR1 gene is located on the long arm of the X chromosome. Within this gene lies
a region of DNA which varies in length from one person to another. Ordinarily,
this stretch of DNA falls within a range of length that would be considered
"normal".
In
some people, however, this stretch of DNA is somewhat longer; this gene change
is called a "premutation". Although a person who carries the
premutation does not typically have symptoms of Fragile X, the stretch of DNA
is prone to further expansion when it is passed from a woman to her children.
When the stretch of DNA expands beyond a certain length, the gene is switched
off and does not produce the protein that it is normally makes. This gene
change is called a "full mutation".
A
male who inherits a full mutation exhibits characteristics of Fragile X
syndrome because his only X chromosome contains the defective gene. A female
may not be as severely affected as a male because each cell of her body needs
to use only one of its two X chromosomes and randomly inactivates the other
(usually the defective X).
How is Fragile X inherited?
Fragile X is
inherited. Males and females carrying a premutation are unaffected. Carrier men
(transmitting males) pass the premutation to all their daughters but none of
their sons. These daughters are unaffected, but are at risk of having affected
offspring. Each child of a carrier woman has a approximately 50% chance of
inheriting the gene. The Fragile X premutation can be passed silently down
through generations in a family before a child is affected by the syndrome and
shows retardation or developmental and learning disabilities.
Variable clinical severity is observed in both
sexes. Most, but not all, males with a full mutation are mentally retarded and
show typical physical ant behavioral features. Of females with a full mutation,
approximately one-third are of normal intelligence, one-third are of borderline
intelligence, and one-third are mentally retarded.
Individuals
for Whom Testing Should Be Considered
·
Individuals of either sex with mental retardation,
developmental delay, or autism, especially if they have (a) any physical or
behavioral characteristics of fragile X syndrome, (b) a family history of
fragile X syndrome, or (c) male or female relatives with undiagnosed mental
retardation.
·
Individuals seeking reproductive counselling who have
(a) a family history of fragile X syndrome or (b) a family history of
undiagnosed mental retardation.
What are the
health risks if a woman is identified to be a premutation carrier?
·
Women with the premutation have up to a 50% chance of
having a child with the FXS mutation.
·
Approximately 16% of women with the fragile X
premutation will go through menopause before the age of 40, a condition known
as fragile X-associated primary ovarian insufficiency (FXPOI).
·
There is a small risk for developing Fragile X
Tremor/Ataxia Syndrome (FXTAS), a neurological disorder that causes tremors,
balance problems, difficulty walking, and memory problems later in life.
·
Women with the premutation will often times have other
relatives who have a chance of carrying the fragile X mutation and, as a
result, will also be at risk for similar health risks.
I hope you will like it to share...will post the Hindi version in my next post
