Williams Syndrome - Facts and Information
- Publish Date: 2012/02/18 - (Rev. 2014/02/06)
- Author: Wendy Taormina-Weiss
Outline: Williams syndrome is a form of rare genetic disorder that is characterized by mild to moderate learning difficulties or mental retardation.
Main DigestWilliams syndrome is a form of rare genetic disorder that is characterized by mild to moderate learning difficulties or mental retardation, a unique personality combining high levels of empathy, anxiety, and over-friendliness, and distinctive facial features.
A form of rare genetic disorder that is characterized by mild to moderate learning difficulties or mental retardation, a unique personality combining high levels of empathy, anxiety, and over-friendliness, and distinctive facial features.
The main medical issue related to Williams syndrome is cardiovascular disease due to a narrowing of the person's arteries. Williams syndrome is associated with elevated blood calcium levels during a person's infancy as well.
A random genetic mutation involving the deletion of a small piece of chromosome 7, instead of inheritance, causes Williams syndrome the majority of the time. There are people with the disorder; however, who have a 50% chance of passing it on to their children.
Characteristic facial features of Williams syndrome include:
- Full lips
- Small chin
- Full cheeks
- Wide mouth
- Puffiness around the eyes
- Short nose with a broad nasal tip
People with Williams syndrome also many times have limited mobility in their joints, curvature of their spines, sloping shoulders, a long neck, and are short of stature. Some people with the disorder have a star-like pattern in the irises of their eyes.
Infants with Williams syndrome are often times colicky and irritable and experience feeding issues that prevent them from gaining weight. Adolescents and adults with the disorder commonly experience chronic abdominal pain. By the age of 30, most people with Williams syndrome also have pre-diabetes or diabetes, as well as mild or moderate, 'sensorineural,' hearing loss which is a form of deafness due to disturbed functioning of the person's auditory nerve.
For some people with Williams syndrome, the loss of hearing may start as early as their late childhood years. Williams syndrome is associated with a cognitive profile of mental strengths and weaknesses. The person's strengths include verbal short-term memory and language, while they also experience weakness in the area of, 'visuospatial construction,' or the skills a person uses to draw, copy patterns, or write.
'Supravalvular Aortic Stenosis (SVAS),' is a form of cardiovascular disease that occurs frequently in people who experience Williams syndrome. SVAS involves the narrowing of the person's large blood vessel that carries blood from their heart to the rest of their body. If the condition remains untreated the aortic narrowing has the potential to cause the person symptoms that include chest pain, shortness of breath, and heart failure.
Additional signs and symptoms of Williams syndrome can include:
- Short stature
- Joint problems
- Soft, loose skin? High blood pressure
- Eye and vision issues
- Digestive tract issues
- Urinary system issues
- Developmental delays
- Problems with coordination
- Increased calcium levels in the blood
People with Williams syndrome commonly experience difficulties with visual-spatial tasks including assembling puzzles and drawing, although they often do quite well with ones involving music, spoken language, or learning through rote memorization. People with this disorder have engaging, outgoing personalities and many times present an extreme interest in other people. Phobias, anxiety, and Attention Deficit Disorder (ADD) are among the health issues experiences by people with Williams disorder.
For people who experience Williams syndrome their strongest skills in the area of language involve concrete and practical vocabulary - something which many times are in the low-average to average range for the population in general. Their abilities with conceptually-related or abstract vocabulary are many times more limited. The majority of both children and adults with Williams syndrome are fluent speakers who use good grammar. Greater than half of children with this disorder also experience ADD or ADHD, and half also experience specific phobias that include a fear of loud noises. Most people with Williams syndrome worry in excess.
Treatment and Prognosis of Williams Syndrome
At this time there is no cure for Williams syndrome; there is also no standard course of treatment for the disorder. Due to the fact that Williams syndrome is both a complex and uncommon form of disorder, a number of multidisciplinary clinics have been established at several centers in America. People who experience Williams syndrome need consistent cardiovascular monitoring for potential medical issues including high blood pressure, symptomatic narrowing of their blood vessels, and heart failure.
People with Williams syndrome have varying prognosis. A degree of mental retardation is present in the majority of people with the disorder, and while some adults with Williams syndrome have the ability to live independently, completing vocational or academic school and living on their own or in supervised homes, the majority of people with this disorder live with a caregiver.
Parents of people with Williams syndrome may increase the likelihood of their child being able to live semi-independently by teaching them self-help skills early. Individualized educational programs designed with distinct cognitive personality profiles of Williams syndrome and early intervention can also assist people with the disorder to achieve their greatest potential. Medical complications related to Williams syndrome unfortunately have the potential to shorten the life spans of some people who experience the disorder.
The early 1990's found researchers locating and identifying the genetic mutation that is responsible for Williams syndrome. Deletion of a small section of chromosome 7, which contains approximately 25 genes, is involved. Research continues, and groups are trying to link particular genes with corresponding cognitive, facial, neurological, and personality characteristics of Williams syndrome.