Wednesday, May 24, 2017

Williams Syndrome

williamsWilliams syndrome is a rare genetic disorder characterized by excellent verbal abilities, a love for music, and a very social personality that combines extreme friendliness and high levels of empathy with anxiety. At the same time, individuals with this disorder can also have cardiovascular problems and mild to moderate intellectual disabilities or learning problems.

It is estimated that Williams syndrome affects 1 in 8,000 people and is known to occur equally in both males and females, as well as in every culture.  Approximately 75% diagnosed have some form of mental retardation.

Young children with Williams syndrome have distinct facial features including a broad forehead, a flattened nasal bridge with an upturned nose, full cheeks, wide mouth, full lips, skin that covers the inner corner of the eyes, and a small chin. The facial features become more apparent with age.

Cause

Williams syndrome is caused by the spontaneous deletion of more than 25 genes on chromosome #7 at the time of conception.  It is not caused by something the parents did or did not do before or during pregnancy.

However, if an individual with the disorder has children, he or she has a 50 percent chance of passing it on to each of his or her children.

Diagnosis

A diagnosis of Williams syndrome typically comes at a relatively late age and sometimes even goes undiagnosed. This is of concern due to the possibly significant and progressive medical issues individuals with the disorder can have. When characteristics of the disorder are recognized it is important that a referral is made to a clinical geneticist who can further evaluate the individual.

A clinical diagnosis can be confirmed by a special blood test that can detect the deletion of genes on chromosome #7, known as the FISH test (Fluorescent In Situ Hybridization).

In addition, a new diagnostic test for Williams syndrome has been developed called micro-array analysis. This test can identify the deletion of the genes in addition to the exact size of the deleted area on the chromosome.

UPDATE JUNE 2012: A new study published in PLoS One indicates that oxytocin and arginine vasopressin are not well regulated in those with WS, and that the behavioral characteristics unique to people with WS are related to this problem. It is important to note, however, that the trial consisted of 21 participants: 13 who have WS and 8 people without the disorder to act as the control group.

Common Features

Most young children with Williams syndrome have similar facial features as described above. In addition, blue and green-eyed children with the disorder can have a distinct “starburst” or white lacy pattern on their iris. They may also have an inward bend of the small finger, or are shorter than the rest of their family.

In addition to the facial features, individuals with Williams syndrome can also have any of the following signs or symptoms:

  • Heart and blood vessel problems: The majority of individuals with the disorder have some type of heart and blood vessel issue. The most common is a narrowing in the aorta or narrowing in the pulmonary arteries.
  • Hypercalcemia: This is elevated blood calcium levels. When children have this condition it can cause extreme irritability or colic-like symptoms. Sometimes dietary or medical treatment is needed. While this condition typically resolves on its own, abnormalities in calcium or Vitamin D metabolism may continue to exist.
  • Dental abnormalities: Many people affected with the disorder have dental problems such as small and widely spaced teeth. In addition, abnormalities of bite, tooth shape or appearance can also exist.
  • Sensitive hearing: Children with Williams syndrome often have more acute hearing, which can lead to pain due to certain frequencies or noise levels.
  • Low birth-weight/slow weight gain: Children with Williams syndrome have slightly lower birth-weights than their brothers or sisters. Many children are diagnosed as “failure to thrive,” especially during the first few years of life.
  • Feeding problems: These issues have been connected to severe gag reflex, poor suck/swallow, and low muscle tone, among others. These difficulties due tend to resolve as the children age.
  • Musculoskeletal problems: Young children with the disorder often have low muscle tone and joint problems.
  • Over-friendly personality: Individuals with Williams syndrome have very charming and appealing personalities. They possess unique strength in their expressive language skills. They are typically not afraid of strangers. While individuals with the disorder experience the need to connect with others, they often do not process subtle social cues, making it difficult to form long-term relationships.
  • Developmental delay/learning disabilities: Milestones such as walking, talking or toilet training are often achieved at a later time than what is considered the norm. In addition, individuals show significant weakness in fine motor skills and spatial relations. They most often have a difficult time with copying patterns, drawing and writing. Often they are easily distracted and show signs of ADD.
  • Musicality: Most children with Williams syndrome seem to go through life with a song in their hearts. They can be consumed by every type of music and have great concentration when it comes to anything musical.


Living with Williams syndrome

Early intervention and individualized educational programs are important steps to help build upon and enhance an individual’s strengths and abilities while the child is in school. Because children with Williams syndrome have a wide range of cognitive abilities there is, of course, no specific program that works best for everyone.

By teaching children self-help skills early on, parents can increase the likelihood that their child will be able to live semi-independently. Most people with Williams syndrome live with a caregiver. However, some are able to function independently, complete academic or vocational school, and live in a supervised home or on their own.

There is no cure for Williams syndrome and there is no standard course of treatment. Treatment is based on an individual’s symptoms, but most require regular monitoring of the cardiovascular system. Physical therapy, as well as developmental and speech therapy may also prove to be helpful.

Research continues to try to uncover more about this rare genetic disorder. For additional information, click the video link below and watch the story ABC did about Williams syndrome entitled “Where Everybody Wants to Be Your Friend.

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