This is the second in a series of articles on disabilities from the Wilkes Community Partnership for Children. The purpose of this series is to increase awareness of diagnosed disabilities in young children.
The most common cause of inherited intellectual disability is Fragile X syndrome (FXS). It is estimated that about 1 in 4,000 males and 1 in 6,000 to
8,000 females are born with FXS. FXS
occurs in all racial and ethnic groups.
Some of the signs of FXS include
developmental delays. Examples include
not talking, walking, and/or sitting at the same time as children of the same
age. Another sign could include learning
disabilities such as trouble learning new skills. FXS signs include social and behavioral
problems that are exhibited in not making eye contact, trouble paying
attention, acting and speaking without thinking, frequent tantrums, and hand
flapping. Children with FXS can also
have anxiety
and mood problems and be sensitive to light and touch.
Males who have FXS usually have some degree of intellectual disability
that can range from mild to severe. Females with FXS can have normal intelligence. Only about one-third to one-half of affected females has some
degree of intellectual disability.
Physical
signs of an individual with FXS, that are subtle that become more obvious
with age, are long, narrow face, large ears, large head, overly flexible joints
(especially the fingers), and prominent forehead and chin. Girls with FXS generally have fewer physical
signs of the condition than males.
A diagnosis of FXS is confirmed through testing a
person's DNA by a blood test. This test
is ordered by a doctor or genetic counselor. The
blood sample is sent to a laboratory and checked to determine if there is a
gene mutation (change). Around 35 to 37
months (three years of age) boys are diagnosed.
Girls are diagnosed later at forty-one months.
A diagnosis of FXS helps the
family understand the reason for a child’s intellectual disability and behavior
problems. An early diagnosis also helps
the family learn more ways to help the
child reach his or her full potential.
Most children with FXS
have a normal life span and do not have serious medical problems. Five percent of girls and fifteen percent of
boys affected by FXS develop seizures, that are most often are controlled
through medication. The risk for chronic
inner ear infections is increased in children with FXS and may increase the
need to have tubes placed in their ears.
A child with FXS may have mitral valve
prolapsed, a heart condition, that causes heart murmurs. In most cases this is not life-threatening
and does not require treatment.
While there is no cure for FXS there are
treatment services that help with learning skills such as learning to walk,
talk and interact with others. Medicine
can be used to control behavior problems.
Early intervention services (birth to age three) may help improve a
child’s development. Through the local Children’s
Developmental Services Agency a child can be evaluated and receive
treatment. A treatment plan that
involves parents, child, teachers, and health care providers allows everyone to
work together to help guide the success of the child with FXS.
For more information on FXS contact your
physician. Additional information is
available online at the National Fragile X Foundation.
Wilkes Community Partnership for Children is a Smart Start and United Way Funded Agency.
