Saturday, November 16, 2013

Learn About FXS

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- .

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