Understanding Williams Syndrome

June 12, 2023 | Divyanshi Singh | Neurology

Williams syndrome is really a fascinating behavioral syndrome. What is Williams Syndrome, exactly? To begin with, it’s a syndrome, and a syndrome is made up of various symptoms that not everyone with the illness will necessarily have. Individuals with Williams Syndrome have aortic stenosis, which is a restriction of their aorta that can lead to hypertension, or high blood pressure, therefore that needs to be addressed. They have distinct, recognizable features. Many people with Williams Syndrome have intellectual disabilities.

What is Williams Syndrome?

Williams Syndrome patients have elfin-like features. This is especially true when they are younger. Their chins are delicate, their jaws are quite huge, and the fact that they are frequently smiling emphasizes the size of their mouth. They have a tiny, upturned nose and a puffy appearance around their eyes and they have elfin-like features as a result of this.

In terms of the medical manifestation of Williams syndrome, there is growth retardation. The height of people with Williams syndrome is within acceptable limits, however, it is on the low end of the normal range so, a male could be 5′ 5″ or shorter, while a female could be under five feet. The structural variation found in William syndrome on the long arm of chromosome 7, about one and a half million to 1.8 million, or mega-bases of DNA is deleted in people with Williams Syndrome.

Studies indicate that parents of children with William syndrome are not missing that area of DNA usually, therefore it’s a de novo mutation, it’s a novel mutation that has happened. And in one of the parents, the material was deleted out when the parents’ DNA was duplicated during meiosis, during the formation of the gamete. In persons who had Williams syndrome, there was an error in the duplication process, as a consequence, chromosome seven gets eliminated.

For example, the gene ELN, which stands for Elastin Gene (Elastin is the protein responsible for the characteristic elastic properties of many tissues including the skin, lungs, and large blood vessels. Loss-of-function mutations in the elastin gene are known to cause the heart defect supravalvular aortic stenosis). It is observed in persons with Williams syndrome have only one copy of the ELN gene resulting in a narrow aorta (elastin is necessary for the formation of the aorta).

Unique Behavioral and Cognitive Profile

Children with William Syndrome have a distinctive cognitive profile with the condition of an intellectual handicap their IQs on average are in the 50 to 60 range, which is associated with a mild to moderate level of intellectual impairment. The overall IQ in this range can be deceiving since their verbal and language abilities being relatively intact, they are very articulate verbally as compared to someone with a similar IQ range. Visual-spatial abilities are deficient making them lack the ability to spatially integrate parts into a whole. Yet other unique behavioral characteristics include hyperacusis, being extremely sensitive to hearing.

Distinguishing Characteristics

Children with Williams syndrome are hyper-social hence debarring them from stranger anxiety and this makes their parents concerned about them since they don’t have stranger anxiety. Some forms of behavioral problems are at risk of hyperactivity or inattention and they have a great risk of suffering from other anxiety disorders, even though they don’t suffer from alien anxieties. Moreover, people with Williams Syndrome are very interested in musical pursuits.

Possible Diagnosis

A thoroughly clinical assessment that contains a complete history of patients and specialist

blood testing that might identify high amounts of calcium in the blood can confirm the

diagnosis of Williams Syndrome, along with family medical and facial features like an

upturned nose, wide forehead, and small teeth. An electrocardiogram (EKG) or ultrasound can check for heart problems. There might be a blood test called FISH (Fluorescence In Situ Hybridization), to see if any genes are missing. Most people with Williams Syndrome will not have the ELN gene.

Treatment Plans

Treatments can be tailored depending on the symptoms and intensity of each person for

persons with Williams syndrome. Could involve management:

  • Early intervention and specific training programs for children with various levels of developmental disability.
  • Consulting drugs for the loss of attention and/or anxiety.
  • Surgery for certain heart defects.
  • Hypercalcemia drugs or dietary changes.
  • Orthodontic or other malocclusion treatments of teeth.
  • Hormone agonist for early puberty releasing gonadotropin.

Conclusion

To conclude  Williams syndrome is the first diagnosis based on main symptoms, paraclinical assessments, and clinical findings such as elfin faces, neurocognitive impairment, and congenital heart abnormality simultaneously paying extra attention to assessing heart murmurs in children, especially if the patient has atypical facial characteristics or a mental illness. Williams Syndrome affects roughly one out of every 7,500 births worldwide, and it affects people of all ethnic backgrounds.