Fragile X

18-year-old Doug and his younger
brother Jimmy are very different…

“Our older son Doug is very outgoing, cracks jokes, can
be the center of attention. Always want to be with us. Jimmy, is
very shy, withdrawn,” says their father, Rick Reynolds.

But both have one crucial thing in common…

A genetic mutation in their x-chromosome that makes them mentally
disabled…

“This gene normally produces a protein that’s important
in the brain for cognitive ability, and then after this mutation
the gene’s inactive,” explains Stephen Warren, Ph.D.,
a Lead Researcher in the Human Genetics Department at Emory University.

The result can be varied.

Doug resembles a child with mild mental retardation.

Jimmy has autistic-like characteristics.

“Poor eye contact, don’t like to be touched… have
verbal difficulties,” explains Dr. Warren.

In fact, experts say many children with Fragile-X may initially
be misdiagnosed with something else.

The way to find out… is a simple blood test.

“That ends sometimes an odyssey that parents undergo trying
to seek answers,” says Dr. Warren.

Knowing also gives a parent something else: hope of a cure.

Emory researchers, who discovered the gene in 1991, say there’s
been encouraging progress in the past couple of years.

“We have drug screening experiments going on right now
because we understand enough about Fragile-X syndrome that we can
start to see where interventions might be of benefit,” says
Dr. Warren.

Until then, Rick and his wife say the most important thing they
do for their kids is the same thing that’s important for
all kids.

“Love your kids to death,” he says, “Just love
them to death, and just don’t, don’t hold back on what
you think their capabilities are because it’s truly surprising
all through their lives what they can do.”

Nearly 15 years ago, scientists discovered a gene – FMR1 – that
causes Fragile X. According to experts at the Conquer Fragile X Foundation,
individuals with the syndrome experience a shutdown of the FMR1 gene
due to a mutation, causing them not to be able to manufacture the protein
FMR1 normally would. Some individuals carry Fragile X but don’t
show its symptoms. They have a small defect, or premutation, in the
FMR1, which can lead to the syndrome in their offspring.

Male carriers pass the premutation to all their daughters but none
of their sons, and each child of a female carrier has a 50/50 chance
of inheriting the gene. A family of carriers can go generations before
a child is born with the syndrome. To identify whether or not you are
a carrier, a DNA blood test should be performed. Although Fragile X
syndrome may be relatively unknown to the public, it affects a number
of children through the United States. Consider the following statistics
provided by the Fragile X Association of Southern California:

• Fragile X syndrome is the most common inherited cause of mental
  impairment, affecting approximately one in 3,600 males and one in
  4,000 to 6,000 females with the full mutation worldwide. It
  is estimated that one in 250 females and one in 700 males are carriers
  of the premutation.
• It is second only to Downs Syndrome as a cause of mental retardation.
  Both males and females may be affected by a wide variety of symptoms.
• Fragile X syndrome appears in children of all ethnic, racial and
  socio-economic backgrounds.

You may have a lot of questions regarding Fragile
X syndrome and how, if at all, it will affect your child. Experts at
the University of Michigan Health System (UMHS) have developed the
following list of facts regarding the condition:

• It is inherited.
• It is caused by mutation of the FMR1 gene on the X-chromosome.
  Genetic testing for Fragile X is possible.
• Mothers may be a carrier of the mutation and pass it on to their
  children, or a mother may have a pre-mutation that expands to a
  full mutation when passed on to the next generation.
• Boys are affected more severely than girls, because girls have
  another X chromosome, which usually does not have the mutation
  and can partially compensate for the nonfunctioning one. Boys have
  only one X chromosome (and one Y chromosome).
• The damaged gene can be passed along silently for generations
  before a child is affected by Fragile X syndrome.

There are certain characteristics of which you should be aware
if you suspect your child may have Fragile X. Consider the following
list from the UMHS:

Physical characteristics

• Prominent ears, large head, prominent forehead, flexible finger
  joints, high palate and/or flat feet
• During puberty, boys usually develop large testicles ( macroorchidism)
  and a long face

Behavioral characteristics:

• Intellectual disability – from mild learning disabilities
  to severe mental retardation and autism
• Developmental delays, especially regarding language
• Attention Deficit Hyperactivity Disorder (ADHD)
• Autistic behaviors such as hand flapping, hand biting or chewing
  on clothes
• Very sensitive to stimuli
• Great sense of humor
• Anxiety
• Excellent memory
• Frequent tantrums

If you believe your child may have Fragile X, it is important to
see a doctor. If, after testing your child, doctors determine he/she
does have Fragile X, there are various treatments available for him/her.
Consider the following, according to experts at UMHS:

• Early intervention in the pre-school years can help your child
  make better progress.
• To reach full potential, a child may need speech and language
  therapy, occupational therapy, and physical therapy to help with
  the many physical, behavioral and cognitive impacts of Fragile
  X.
• Special education programs should fit your child’s individual
  needs to modify classes and assignments. Children should be integrated
  into regular education whenever possible.
• Having a regular routine, avoiding over-stimulation, and using
  calming techniques can help reduce behavior problems.
• Medications can be used to help treat the aggression, seizures,
  hyperactivity and short attention span that often come along with
  Fragile X syndrome.
• Treatment should be tailored to meet each child’s specific needs.

In addition to questions about treatments, you may be wondering
what health problems, if any, your child will experience as a result
of having Fragile X. The UMHS lists the following:

• Usually children with Fragile X do not have a lot of medical
  problems.
• Health problems these kids may have include frequent
  ear infections, seizures, strabismus or mitral valve prolapse.