Fragile X Syndrome

Fragile X Syndrome (FXS) is an inherited genetic disorder that is the most common cause of inherited intellectual disabilities in boys as well as autism (about 30% of children with FXS will have autism). It also affects girls, though their symptoms tend to be milder. It is greatly under-recognized and second only to Down syndrome in causing intellectual impairment.

FXS occurs when there is a mutation of the  in the FMRI gene and is an inherited disorder.  If a child received a premutated X chromosome from one of his parents (as a carrier), then he is at greater risk of developing FXS. Diagnosis is not always easy and early signs of the disease are hard to detect. DNA tests can determine whether a child has inherited FXS.

 

Symptoms and Characteristics of Fragile X Syndrome

Diagnosing Fragile X Syndrome is not easy for parents and doctors at the beginning of a child’s life.  Few outward signs are noticeable within the first 9 months. These signs may include an elongated face and protruding eyes.   

Intellectual disabilities, speech and language problems, and social anxiety occur most frequently in children with Fragile X. Speech symptoms include repetition of words and phrases, cluttered speech and difficulties with the pragmatics of speech. All of FXS’s symptoms can range from mild to very severe.  

Most females experience fairly mild symptoms and their IQ can remain at a normal level with some learning disabilities.

 

Treatment of Fragile X Syndrome

There is no known cure for Fragile X Syndrome, but there are ways to help make the symptoms less severe. Treatment includes working with physical and behavioral therapists to help lessen the physical signs and the anxiety disorders that may inhibit the child. 

For speech and language disorders, working with a speech language pathologist can help a child cope with the symptoms they are facing. Each child will have different needs and the lesson plan should be customized to the needs of the child. Further, working in a comfortable and familiar environment can help the child feel more relaxed and not prone to anxiety. 

Sign language is sometimes necessary for a child that is nonverbal or unintelligible. Speech Buddies can help children who have articulation problems as a result of Fragile X and can be used in the comfort of home if children are prone to anxiety.

 

Other Speech Disorders

Articulation Disorder, Apraxia of Speech, Autism, Cerebral Palsy, Cleft Palate, Down syndrome, Language Disorder, Speech Delay, Stuttering

 

References:

http://www.speechbuddy.com/blog/speech-therapy-techniques/fragile-x-syndrome-treatment-options/

http://vivacommunications.com.au/blog/fast-facts-on-fragile-x/

http://www.speechbuddy.com/blog/speech-disorders-2/what-is-fragile-x-syndrome/

http://en.wikipedia.org/wiki/Fragile_x_syndrome

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