Williams Syndrome: Symptoms, Causes and Treatment

Have you heard of a disease called Williams syndrome? Did you know that this disease causes some intellectual disabilities? What could the symptoms be? What causes this syndrome? Discover these and much more in our post today!

Williams syndrome is an extremely rare genetic disorder that causes certain developmental disorders and other conditions. According to Puene et al., this syndrome affects one baby in 20,000 newborns (2010).

However, according to Garayzabal and Capo (2009), the coincidence rate of this disease may be higher in the form of a baby in 7,500 newborns (according to the Spanish Williams Syndrome Association data), thanks to the diffusion studies of the institutions and the point they have reached in their research on the genome.

So what exactly is Williams syndrome? What are the symptoms? What are the causes? How is it diagnosed? How is it treated? Is it true that children with Williams syndrome have an incredible talent for music? We will answer all these questions and much more in this article!

What is Williams Syndrome?

As we mentioned above, Williams syndrome is a genetic disease that occurs in one baby in every 7,500 to 20,000 babies born. In most people, it causes heart problems, anxiety, physical changes such as muscle stiffness, and other symptoms.

In terms of personality, children with this syndrome display very extroverted and hypersocial behaviors.

One of the main features of this syndrome is that it causes mild or moderate intellectual disabilities that are associated with certain cognitive and developmental deficits. In addition, as we will talk about later, the percentage also causes certain differences.

What Are the Symptoms Caused by Williams Syndrome?

Intellectual Disability

This can include difficulty with visual and spatial tasks such as jigsaw puzzles or drawing pictures. There may also be a deficiency in psychomotor skills.

One of the interesting cases that we will talk about is when music and learning by repetition or memorization do not work. In some articles and studies, it is stated that children have a special talent for music.

Heart diseases

One of the possible manifestations of Williams syndrome, and perhaps the most serious, is a cardiovascular disease called supravalvular aortic stenosis. This disease is related to the narrowing of the great vessels that carry blood from the heart to the body.

So what happens if stenosis is not treated? It can cause chest pain, shortness of breath, and even heart failure. The National Health Organization states that apart from stenosis, other cardiovascular diseases can also be seen in people with Williams syndrome.

Personal Characteristics and Attention Deficit Hyperactivity Disorder

Individuals with Williams syndrome are extroverted, highly social, not shy, enthusiastic, and very friendly children. They are extremely concerned with people. This syndrome also causes ADHD, anxiety and phobias.

Specific Facial Features

In terms of phenotype, there are certain features that usually become more visible in people with Williams syndrome around the age of two or three:

• Small chin.
• Thick lips.
• Narrow forehead.
• Excess tissue around the eyes.
• short nose.
• An underdeveloped drooping cheek in the area of ​​the molars.

Other Symptoms

Other symptoms of Williams syndrome include:

• Muscle stiffness.
• Myopic.
• Constipation.
• Spinal differences.
• Calcium deposition in the kidneys.
• Short stature in relation to other family members.
• Involuntary but conscious urination.

What Causes Williams Syndrome?

Since Williams syndrome is a genetic disease, we can find the cause of it in the genes. 99% of cases are caused by the absence or deletion of genetic material in a particular region of chromosome seven. Specifically, this syndrome occurs when more than twenty-five genes of chromosome seven are not copied.

One of the missing genes is responsible for the production of elastin, the protein responsible for retraction of vessels and other body tissues. Thus, this missing gene causes the phenomena seen in Williams syndrome, such as elastic skin, flexible joints, and narrowed vessels.

According to the journal MedLine Plus, genetic mutations that cause disease occur alone in the sperm or egg from which the fetus develops. On the other hand, when there is such a change in a person’s genetic material, the probability of this change in their children is 50%.

Treatments for Williams Syndrome

There is no cure for Williams syndrome. But some symptoms or results can be improved. These are the psychological treatment of developmental and cognitive deficiencies and emotional states arising from these deficiencies, or the treatment of conditions such as joint stiffness with physiotherapy. Apart from these, other treatment methods can also be applied.

Morris (2017) also states that there are other treatment methods in his article on this syndrome. Below are some of the medical or surgical treatments that people with Williams syndrome receive:

• Drug treatment of types of hypercalcemia such as corticosteroids.
• Medication for hypertension or constipation.
• Performing surgery to treat heart problems.
• Medication for suppression of sex hormones in the case of precocious puberty.

The recommendations of Morris (2017) on psychological treatments are as follows:

• Special education programs for learning disorders.
• Intervention programs for behavioral disorders and anxiety.

Finally, among other treatments, we can mention:

• Physical therapy and physiotherapy.
• Regulations in nutrition.
• Vitamin supplements containing vitamin D.