Peter Jacky of Kaiser Sunnyside Hospital in Clackamas, Oregon for his comments on this article. 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.įor more information visit the National Fragile X Foundation Several treatments are recommended for individuals with this disorder, including mild medications for behavior problems and therapies for speech and language and sensory improvement. Many hospitals and laboratories perform blood tests to diagnose Fragile X syndrome. 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. 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. Behavior problems and speech/language delay are also common features of Fragile X Syndrome. Females may also be affected but generally have a mild form of impairment.Īpproximately 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. Males afflicted with this syndrome typically have a moderate to severe form of intellectual handicap. The exact frequency of Fragile X syndrome is unclear, but the CDC estimates that roughly 1.4 in 10,000 males and 0.9 in 10,000 females are affected by this disorder. They also have unique pixie-like facial features–almond shaped eyes, oval ears, full lips, small chins, narrow faces, and broad mouths.įor more detailed information regarding this disorder please visit the Williams Syndrome Association.įragile X syndrome (also known as Martin-Bell syndrome) is a sex-linked genetic disorder. These individuals differ from the typical autistic individual because they also have cardiovascular abnormalities, high blood pressure, elevated calcium levels, and are very sociable. A diagnosis is essential to maximize quality of care. However, Williams Syndrome includes other symptoms that may require different or additional treatments. This includes: developmental and language delays, problems in gross motor skills, hypersensitivity to sounds, picky eating, and perseverating. Many people with Williams Syndrome exhibit autistic behaviors. The prevalence in the population is somewhere between 1 out of 10,000. Williams Syndrome (also known as Williams-Beuren syndrome) is a rare genetics disorder in which a portion of DNA material on chromosome 7 is missing.
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