Williams Syndrome
"WHAT IS WILLIAMS SYNDROME?"
Williams Syndrome (WS) is a rare genetic disorder characterised by mild to moderate learning difficulties, a distinctive facial appearance, and a unique personality that combines overfriendliness and high levels of empathy with anxiety. The most significant medical problem associated with WS is cardiovascular disease caused by narrowed arteries.
WS is also associated with elevated blood calcium levels in infancy. A random genetic mutation (deletion of a small piece of chromosome 7), rather than inheritance, most often causes the disorder. However, individuals who have WS have a 50 percent chance of passing it on if they decide to have children.
The characteristic facial features of WS include puffiness around the eyes, a short nose with a broad nasal tip, wide mouth, full cheeks, full lips, and a small chin. People with WS are also likely to have a long neck, sloping shoulders, short stature, limited mobility in their joints, and curvature of the spine. Some individuals with WS have a star-like pattern in the iris of their eyes.
Infants with WS are often irritable and colicky, with feeding problems that keep them from gaining weight. Chronic abdominal pain is common in adolescents and adults. By age 30, the majority of individuals with WS have diabetes or pre-diabetes and mild to moderate sensorineural hearing loss (a form of deafness due to disturbed function of the auditory nerve). For some people, hearing loss may begin as early as late childhood.
"EDUCATIONAL IMPLICATIONS"
WS also is associated with a characteristic “cognitive profile” of strengths in verbal short-term memory and language, combined with severe weakness in visuospatial construction (the skills used to copy patterns, draw, or write). Within language, the strongest skills are typically in concrete, practical vocabulary, which in many cases is in the low-average to average range for the general population. Abstract or conceptual-relational vocabulary is much more limited.
Most older children and adults with WS speak fluently and use good grammar. More than 50% of children with WS have Attention Deficit Disorders (ADD or ADHD), and about 50% have specific phobias, such as a fear of loud noises. The majority of individuals with WS worry excessively.
"A SUMMARY OF THE COMMON FEATURES OF WILLIAMS SYNDROME"
"IS THERE ANY TREATMENT?"
There is no cure for Williams Syndrome, nor is there a standard course of treatment. Treatments are based on an individual’s particular symptoms. People with WS require regular cardiovascular monitoring for potential medical problems, such as symptomatic narrowing of the blood vessels, high blood pressure, and heart failure.
"WHAT IS THE PROGNOSIS?"
The prognosis for individuals with WS varies. Some degree of impaired development is found in most people with the disorder. Some adults are able to function independently, complete academic or vocational school, and live in supervised homes or on their own; most live with a carer.
Parents can increase the likelihood that their child will be able to live semi-independently by teaching self-help skills early. Early intervention and individualised educational programs designed with the distinct cognitive and personality profiles of WS in mind also help individuals maximize their potential. Medical complications associated with the disorder may shorten the lifespans of some individuals with WS.
Williams Syndrome (WS) is a rare genetic disorder characterised by mild to moderate learning difficulties, a distinctive facial appearance, and a unique personality that combines overfriendliness and high levels of empathy with anxiety. The most significant medical problem associated with WS is cardiovascular disease caused by narrowed arteries.
WS is also associated with elevated blood calcium levels in infancy. A random genetic mutation (deletion of a small piece of chromosome 7), rather than inheritance, most often causes the disorder. However, individuals who have WS have a 50 percent chance of passing it on if they decide to have children.
The characteristic facial features of WS include puffiness around the eyes, a short nose with a broad nasal tip, wide mouth, full cheeks, full lips, and a small chin. People with WS are also likely to have a long neck, sloping shoulders, short stature, limited mobility in their joints, and curvature of the spine. Some individuals with WS have a star-like pattern in the iris of their eyes.
Infants with WS are often irritable and colicky, with feeding problems that keep them from gaining weight. Chronic abdominal pain is common in adolescents and adults. By age 30, the majority of individuals with WS have diabetes or pre-diabetes and mild to moderate sensorineural hearing loss (a form of deafness due to disturbed function of the auditory nerve). For some people, hearing loss may begin as early as late childhood.
"EDUCATIONAL IMPLICATIONS"
WS also is associated with a characteristic “cognitive profile” of strengths in verbal short-term memory and language, combined with severe weakness in visuospatial construction (the skills used to copy patterns, draw, or write). Within language, the strongest skills are typically in concrete, practical vocabulary, which in many cases is in the low-average to average range for the general population. Abstract or conceptual-relational vocabulary is much more limited.
Most older children and adults with WS speak fluently and use good grammar. More than 50% of children with WS have Attention Deficit Disorders (ADD or ADHD), and about 50% have specific phobias, such as a fear of loud noises. The majority of individuals with WS worry excessively.
"A SUMMARY OF THE COMMON FEATURES OF WILLIAMS SYNDROME"
- Characteristic facial appearance.
- Heart and blood vessel problems.
- Low birth-weight/low weight gain.
- Feeding problems.
- Irritability (colic during infancy).
- Dental abnormalities.
- Kidney abnormalities.
- Hernias
- Hyperacusis (sensitive hearing).
- Musculoskeletal problems.
- Overly friendly (excessively social) personality.
- Developmental delay, learning disabilities and attention deficit.
"IS THERE ANY TREATMENT?"
There is no cure for Williams Syndrome, nor is there a standard course of treatment. Treatments are based on an individual’s particular symptoms. People with WS require regular cardiovascular monitoring for potential medical problems, such as symptomatic narrowing of the blood vessels, high blood pressure, and heart failure.
"WHAT IS THE PROGNOSIS?"
The prognosis for individuals with WS varies. Some degree of impaired development is found in most people with the disorder. Some adults are able to function independently, complete academic or vocational school, and live in supervised homes or on their own; most live with a carer.
Parents can increase the likelihood that their child will be able to live semi-independently by teaching self-help skills early. Early intervention and individualised educational programs designed with the distinct cognitive and personality profiles of WS in mind also help individuals maximize their potential. Medical complications associated with the disorder may shorten the lifespans of some individuals with WS.
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This information is meant to be helpful but Douglas Silas Solicitors cannot be responsible for any loss caused by reliance upon it. If you have concerns about your child, please seek professional educational/healthcare advice. Should you find anything which you believe to be inaccurate please Contact Us as soon as possible.
