How to Identify Williams Syndrome in your child
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How to Identify Williams Syndrome in your child
Williams Syndrome was named after Dr. J.C.P. Williams.
Recently more than 6500 people across the country participated in ‘walking for Williams’ on May 14, 2011 to raise awareness for Williams syndrome.
Williams syndrome is caused by the spontaneous deletion of 26-28 genes on chromosome #7. When conception takes place, the elastin gene deletion accounts for many of the physical features of Williams syndrome. Some medical and developmental problems are probably caused by deletions of additional genetic material near the elastin gene on chromosome #7. William syndrome is not considered to be inherited because of its random selection.
Children have distinctive physical characteristics, they have elfin facial features such as upturned noses, wide mouth with full lips, widely spaced eyes, small chin, irregular spaced teeth and slightly puffy cheeks.
At birth they may have a low birth weight and have difficulty feeding and gaining weight. Calcium levels may be high but usually stops at 3 years of age. It becomes clear these children have developmental problems especially when they may not talk until they are three.
Problems arise with learning disabilities, coordination and balance. They may have high energy levels and talk excessively, often inappropriately, and being overactive, sleep becomes a challenge.
Adults and older children with Williams syndrome often excel in intellectual areas, such as speech, long term memory and social skills while fine motor and spatial relations show weakness. Children and adults with Williams syndrome are sensitive and very polite. Children have no fear of strangers resulting in more contact with adults and less with their peers. They have sensitive hearing and are easily startled, making higher noise frequencies often painful.
One of the first signs of Williams syndrome is heart or blood vessel problems. Part of the aorta or the pulmonary arteries has narrowed, causing a heart murmur. If the narrowing is not severe, regular monitoring is needed, if not surgery is required. They tend to be susceptible to high blood pressure when the blood vessels are narrowed.
Williams syndrome is confirmed by a blood test that identifies the missing part of chromosome 7. A diagnostic test of the DNA detects the elastin deletion on chromosome #7 in more than 98% of individuals with Williams syndrome.
Adults and children with Williams syndrome will have many medical problems and need the expertise of health and educational professionals to be involved in their care. If your child has just been diagnosed with Williams syndrome seek medical attention immediately, starting with whatever physical or disability your child is having. Monitoring for potential problems is necessary and should be conducted by a physician familiar with Williams syndrome challenges.
Tips & Warnings
Williams syndrome is a unique condition and there are organizations out there who lend supportive information. One of them is the The Williams Syndrome Association (WSA)they help to locate individuals with the syndrome and their families to aid them in acquiring accurate medical and educational information. They offer support through yearly regional conferences and social gatherings, quarterly newsletters and biennial conventions.
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