What Is Williams Syndrome?

Nishaat Rupani

WHAT IS WILLIAMS SYNDROME?

Imagine having a rare condition characterized by learning disabilities, developmental delays and cardiovascular disease, as well as striking verbal abilities, a highly social personality, and an affinity for music! This seems very unusual, doesn’t it? Williams Syndrome is a genetic disorder that affects only 1 in 7,500 people worldwide (Ferrara). It is known to occur equally in males and females as well as equally in every culture (Bartke). Williams Syndrome is a rare and unique genetic disorder because those with this condition stand out in spite of the major struggles they face in daily life.

Starting in September last year, I volunteered at an NGO for disabled children, called ADAPT (Able-Disabled All People Together). For seven months, I worked with children who had all kinds of disabilities including ADHD, Down’s syndrome, Cerebral Palsy and Williams Syndrome. Although I had many interesting experiences while working with all of these children, there was one particular child that I can never forget. His name was Yash and he was born with Williams Syndrome. However, he was the most cheerful, friendly and sociable amongst all the children. He was also the only one out of all the children who had Williams syndrome. I had never heard of this disorder before and was very curious to learn more about it when I heard about the interesting stories his teachers had to tell about him and even got to experience some on my own. I did some research on the disorder and found that individuals with this disorder may be different from us, but are phenomenal in their own special way. Curious to know more? Read on to learn about Williams Syndrome, an unusual genetic disorder that has amazed me ever since I first found out about it.

 First of all, let’s investigate the causes of Williams Syndrome. Williams Syndrome is caused as a result of a random event that occurs during the formation of eggs or sperm in a parent of an affected individual. Most cases of Williams Syndrome are not inherited (Ferrara). The disorder generally occurs in people with no particular history of the disorder in their family. Only in rare cases do people with Williams Syndrome inherit the chromosomal deletion from a parent with the same condition. Williams Syndrome is caused by the deletion of specific genetic material from a region of chromosome number 7. The deleted region includes about 26 to 28 genes (Bellugi). The relationship between other genes in the deleted region and the signs and symptoms of Williams syndrome are still under investigation or unknown. Researchers say that a loss of these genes has contributed to the characteristic physical features of this disorder.

People with Williams Syndrome have a number of distinct features of the face and body. Most of these individuals tend to have similar facial features, including a broad forehead, puffiness around the eyes, a short, upturned nose with a broad tip, a long philtrum, full cheeks, a small chin, and a wide mouth with full lips. Many of these individuals also have dental problems such as small, widely spaced, crooked, or missing teeth. These facial features become more apparent with age (Bellugi). Williams Syndrome also affects the development of the body to a great extent. The condition is characterized by a number of cardiovascular problems that can lead to shortness of breath, hypertension, chest pain, and heart failure. Additional signs and symptoms include abnormalities of the connective tissue, digestive tract and urinary system. Major milestones like walking, talking and toileting are also usually achieved later than normal (Semel).

Despite all the daily struggles, family and friends of people with Williams Syndrome say that the joy and perspective they bring into their lives is unimaginable. Unlike in disorders that make connecting with others difficult, people with Williams Syndrome tend to be very sociable, loving and friendly. Individuals with Williams Syndrome have a very endearing personality. These individuals always have a unique strength in their language skills and are extremely polite. They are unafraid of strangers and show more interest in conversing with adults rather than with their own peers! They also tend to have a strong affinity for music. Children and adults with Williams Syndrome both demonstrate intellectual strengths and weaknesses. There are some areas in which performance is quite strong, such as speech and verbal ability, long-term memory and interpersonal skills. On the other hand, they have to deal with learning disabilities and distractibility, due to which they show weakness in other areas such as fine motor skills and spatial relations (Semel).