Look At Fragile X Syndrome

Written by Stephen M. Edelson, Ph.D., Center for the Study of Autism, Salem, Oregon

Fragile X syndrome, called Martin-Bell syndrome, is a genetic disorder and is the most common form of inherited mental retardation. It is a sex-linked genetic abnormality in which a mother is a carrier, transmitting the disorder to her sons. It affects approximately 1 in every 1,000 to 2,000 male individuals, and the female carrier frequency may be substantially higher. Males afflicted with this syndrome typically have a moderate to severe form of intellectual handicap. Females may also be affected but generally have a mild form of impairment.

Approximately 15% to 20% of those with Fragile X Syndrome exhibit
autistic-type behaviors, such as poor eye contact, hand-flapping or odd
gesture movements, hand-biting, and poor sensory skills. Behavior problems
and speech/language delay are common features of Fragile X Syndrome.
People with Fragile X syndrome also have a number of recognizable
physical features, including a high arched palate, strabismus (lazy eye),
large ears, long face, large testicles in males, poor muscle tone, flat
feet, and sometimes mild, heart valve abnormalities. Although most
individuals with Fragile X syndrome have a characteristic ‘look’ (long face
and large ears), there are some who do not have typical features.

Many hospitals and laboratories perform blood tests to diagnose
Fragile X syndrome. Several treatments are recommended for individuals with
this disorder, including mild medications for behavior problems and
therapies for speech and language and sensory improvement. Also, families
are advised to seek genetic counseling to understand the inheritable nature
of Fragile X Syndrome and to discuss with family members the likelihood
other individuals or future offspring may have this disorder.

For more information, contact: The Fragile X Foundation P.O. Box 30023
Denver, CO 80203 We would like to thank Dr. Peter Jacky of Kaiser Sunnyside
Hospital in Clackamas, Oregon for his comments on this article.

The Autism Research Institute distributes an information packet on
Fragile X Syndrome.

Click here to learn how to obtain this packet.

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