In early May 2015, a documentary was broadcast on NPO 3 about Jennis’ search for the ideal woman. However, Jennis is not an average guy; he has Williams-Beuren Syndrome, which means this search was not exactly a walk in the park. It also showed how 22-year-old Jennis was preparing to leave home. Although it soon became clear that ‘something was going on with Jennis’, this was not further explained. This was also not the intention of the film’s creator, Aisha Roberson. She wanted to create a respectful portrait of her brother, who is so much more than his disability: Williams-Beuren Syndrome. She could not prevent the viewer from being left with many questions afterwards. Because, WBS, what exactly is this and what are the consequences for someone’s behavior and development?
A brief description
Williams-Beuren Syndrome is a congenital developmental disorder that is not difficult to diagnose in most cases. This is because children with WBS (as the Syndrome is often abbreviated) have a number of typical characteristics. Many of them have heart problems and mild to moderate intellectual disabilities. Most striking, however, are the typical facial features, which become increasingly apparent as the child grows older.
Many children with Williams-Beuren Syndrome also have elevated calcium levels in their blood. One reason why this condition is also known as idiopathic hypercalcemia. No doctor has ever been able to find out what the reason for this is. The condition is named after the doctors Williams and Beuren. Dr. JCP Williams was a New Zealand cardiologist who, in 1961, had four children under his care with an enlarged coronary artery and an ‘elf face’. He discovered the similarity between these children and was thus onto something new. That he was not alone in this became clear when the German cardiologist Beuren described three children with the same symptoms a year later. Together they discovered the developmental disorder that would later be named after them: Williams-Beuren Syndrome. There are both girls and boys with this syndrome. Something probably goes wrong during fertilization and getting it has nothing to do with inheritance. The chance of having a brother or sister with WBS is therefore less than 1%. It is true that parents who have WBS themselves have approximately a 50% chance of having a child who also has WBS.
Error in the DNA
The Williams-Beuren Syndrome is caused by an error in the hereditary material, the DNA. In 1993 it was discovered that the error can be found on the 7th chromosome. It turns out that one of the two chromosomes is missing the ‘long arm’.
The elastin protein, among other things, is produced in this chromosome. This is an essential component to keep the heart arteries and blood vessels healthy. In people with WBS, this protein is not produced sufficiently, which probably causes heart problems. You should think of narrowings in the aorta or the pulmonary artery and the vein that transports blood to the kidneys. Many people with WBS also have elevated blood pressure.
Although people with WBS have a normal life expectancy, they have an increased risk of a heart attack or stroke due to their heart and blood vessel problems. Because kidney problems are often present, one in seven patients eventually develops diabetes.
A typical appearance
Children with WBS often have a somewhat typical appearance. This is not so noticeable in infancy, but it becomes more so as you get older. For example, children with WBS often have a wide (sometimes a narrow) forehead, blue/green eyes, with a very striking star-shaped iris. They also often have a narrow neck and wide lips, a small nose and curly hair that turns gray noticeably early.
What stands out most are the teeth. There is often quite a bit of space between the different teeth and because the mouth often falls open, they appear very large compared to the rest of the face. Many WBS patients also have dental problems because the natural protection, the tooth enamel, which protects the teeth and molars against cavities, is missing. As a result, they regularly have a hole. A large number of people with Williams-Beuren Syndrome also have a significant overbite.
What else stands out
Many people with WBS have mild to moderate intellectual disability. Their IQ is usually between 40 and 80, although outliers upwards or downwards are possible.
Children with WBS are very socially oriented and enjoy contact with others. They like to talk a lot and have good language skills, although they do not always understand what they are saying. As a result, they are sometimes overestimated. Many are extremely musical and can recognize faces very well. However, they find it difficult to recognize social situations and some can become angry out of nowhere. Perhaps this has to do with their extreme hypersensitivity to (loud) sounds. It is striking that most are sensitive to this. An unexpected noise can startle them and keep them upset for a long time. Some are also obsessed with rotating objects. Like children with autism, they sometimes ‘play’ with rotating objects, spinning them many times around their axis.
Early in life, many children with WBS have feeding problems. Babies often have difficulty drinking. Sucking and swallowing is difficult. Although they usually overcome these problems later, children with WBS often have a growth delay compared to their peers. They don’t get that big either. Girls average 1.57 meters and boys 1.66 meters.
How is the diagnosis made?
There are several ways to diagnose Williams-Beuren Syndrome. Of course, a good history is essential. From the stories of the parents and caregivers of patients, in combination with the research results (heart defect, developmental delay, etc.) and the typical appearance of the children, the suspicion can be expressed that the child has WBS.
Blood tests can further reveal this, especially if it appears that there is an increased calcium value in the blood. The abnormality on the 7th chromosome can also be diagnosed by a special blood test.
No cure possible
WBS is a disease that can grow old, but can cause a lot of discomfort. Consider heart or kidney problems. Someone with WBS also often has weak motor skills and low muscle tone. He develops more slowly than his peers and often takes longer than average to sit, crawl and walk. Once children with WBS do this, their gait may always remain somewhat uncertain because their coordination is less good and they are sometimes a bit clumsy in their movements. Physiotherapy can help to improve this somewhat.
Sometimes the heart problems are so serious that people with WBS have to undergo heart surgery and the intellectual disability can mean that someone can never participate independently in society and always has to rely on extra care and guidance.
