Frequently Asked Questions about Williams Syndrome and the WSA

The diagnosis of Williams syndrome can lead to what seems like an endless stream of questions.  The good news is that many parents have walked down the path you are now taking and can help answer your questions.  It's likely that we even know the ones that are on the top of your list... and we've answered those for your here.  If you have additional questions, please feel free to contact the national office (for questions about Williams syndrome) or your regional representative for questions about local resources and support.

Common Questions about Williams syndrome:

Medical issues

Educational issues

Transition/Adults

Q. What is the cause of Williams syndrome?

A. Williams syndrome is not caused by anything the parents did or did not do either before or during pregnancy. Williams syndrome is caused by the spontaneous deletion of 26-28 genes on chromosome #7.  The deletion occurs at the time of conception.  It is likely that the elastin gene deletion accounts for many of the physical features of Williams syndrome. Some medical and developmental problems are probably caused by deletions of additional genetic material near the elastin gene on chromosome #7. The extent of these deletions may vary among individuals.  In most families the child with Williams syndrome is the only one to have the condition in his or her entire extended family. However, the individual with Williams syndrome has a 50% chance of passing the disorder on to each of his or her children.
 
Q. What is the difference between Williams syndrome (WS) and Williams-Beuren syndrome (WBS)?

A.  The terms "Williams syndrome" and "Williams-Beuren syndrome" refer to the same syndrome. Drs. Williams and Beuren published papers within months of each other in New Zealand and Germany.  Each described several patients with the same cardiovascular problem and a similar facial appearance.  Williams syndrome is commonly used in the United States, while Williams-Beuren syndrome is widely used in Europe.

Q. How is Williams syndrome diagnosed?

A.  The clinical diagnosis can be confirmed by a blood test. The technique known as fluorescent in situ hybridization (FISH), a diagnostic test of the DNA detects the elastin deletion on chromosome #7 in more than 98% of individuals with Williams syndrome.  
 
A new diagnostic test for Williams syndrome is called micro-array analysis.  This test not only identifies the elastin deletion but can provide additional information on the precise size of the deleted area on chromosome #7.
 
Many individuals with Williams syndrome remain undiagnosed or are diagnosed at a relatively late age. This is of concern since individuals with Williams syndrome can have significant and possibly progressive medical problems. When the characteristics of Williams syndrome are recognized, referral to a clinical geneticist for further diagnostic evaluation is appropriate.

Q. My child has not yet been diagnosed. Where should I go to have my child tested?

    A. Genetics clinics around the country can order the FISH test for the Elastin Deletion and will be able to draw the blood and send it for testing. If there is not a genetics clinic in your area, the test can be ordered by any physician and sent to a reliable cytogenetics laboratory. Your doctor must give a precise order for: the FISH test for the deletion of elastin on Chromosome #7 to confirm or rule out Williams syndrome (standard chromosome testing will not detect the WS deletion).

Q. Who should care for individuals with Williams syndrome?

A. Given the complex nature of many of the problems found in individuals with Williams syndrome, many health and educational professionals should be involved in their care. Regular monitoring for potential medical problems is necessary and should be done by a physician familiar with the broad array of problems that can be seen in Williams syndrome.
Older children and adults with Williams syndrome often demonstrate intellectual "strengths and weaknesses." There are some intellectual areas (such as speech, long term memory, and social skills) in which performance is quite strong, while other intellectual areas (such as fine motor and spatial relations) are quite weak.  Therefore, the expertise of developmental psychologists, speech and language pathologists, physical and occupational therapists, etc. who are familiar with Williams syndrome is recommended. Multi-disciplinary Williams syndrome teams, with professionals available in all of these areas, can be an effective adjunct to local resources. When a Williams syndrome clinic is not close by, it is necessary for the family to seek out professionals in their communities to provide this crucial input.
 
Q. Who can help the families?
    A. The Williams Syndrome Association (WSA) is devoted exclusively to improving the lives of individuals with Williams syndrome. The association strives to locate individuals with the syndrome and their families and disseminate timely and accurate medical and educational information. It provides members with support through yearly regional conferences and social gatherings, quarterly newsletters and biennial conventions. The Williams Syndrome Association actively supports research into educational, behavioral, social and medical aspects of the syndrome.

Q. I have read a lot the musicality of children with WS. How will I know if my child is musical, and how do I enhance his musicality?

A. Many children with WS clearly go through each day with a song (or a dance) in their hearts. Music seems to be at their fingertips, and in spite of problems in almost every other area they can be totally consumed by music of every type, and have great concentration for all things musical.  When the children are very young, concentrate on exposing them to music of all kinds - look for a music therapist in your area to work with your child, enroll in a "Kindermusic" class etc. When your child is old enough developmentally to sit with a teacher for a period of time, you can begin to experiment with music lessons - Suzuki piano lessons are often a good place to start. Some music conservatories will offer 10 or 15 minute mini-lessons on a variety of musical instruments and offer suggestions about which instrument might be best for your child.

Q. Are medical problems frequent in Williams syndrome?

    A. Williams syndrome can affect many different body organs. However, it is important to remember that no two individuals with Williams syndrome have exactly the same problems. Since some of the medical problems can develop over time, it is important that individuals with Williams syndrome receive ongoing medical monitoring and supervision. Despite the possibility of medical problems, most children and adults with Williams syndrome are healthy and lead active, full lives.

Q. Will my child have problems with anesthesia?

    A. It is not likely that he or she will have problems.  However, since a small percentage do have problems we suggest that all families approach procedures utilizing anesthesia with caution and do all you can to insure that the anesthesiologist and surgical team members understand the possible risks to individuals with Williams syndrome.  Download and print the anesthesia reports found in the "I am a doctor" section of the website prior to any procedure and provide them to the specialists.

Q. I have read about many characteristics of Williams syndrome. Will my child experience all of these characteristics?

    A. No, that is not likely. The characteristics listed here are known to be the most commonly seen in WS, but the list is not all inclusive, and all individuals with Williams syndrome do not have all of the characteristics. For instance, some individuals with WS do not have cardiovascular disorders, and others may not have sensitive hearing or be small in stature. Similarly, although most children with WS are overly friendly and very talkative, some are mostly non-verbal and quite reserved.

Q. Should I have my child evaluated for therapeutic interventions as an infant or toddler, or wait until he is of school age?

    A. Your child should be enrolled in an early intervention program as soon as possible. Developmental testing should be performed to learn which therapies will benefit him or her, and how. Most young children with Williams syndrome receive OT, PT and Speech therapies.

Q. Should I worry about future pregnancies, and the possibility of giving birth to another child with Williams syndrome?

    A. Williams syndrome occurs spontaneously, not as the result of an inherited characteristic from either parent. Researchers believe that the incidence of a child with WS is about 1 in 10,000, and the incidence does not change with future pregnancies. Therefore it would be highly unlikely that you would have a second child with Williams syndrome.

Q. What educational program will be best for my primary school age child?

A. Children with WS are individuals with a wide range of cognitive abilities and there is not a specific program that works best for everyone. One key to successful programming for your child lies in parent-professional collaboration. It is important to build a "team" of support for your child, and you as a parent should be an integral member of the team, creating a program that builds on and enhances your child's strengths and abilities. You can provide vital information from personal knowledge of your child as well as the knowledge gained from the WS experts collaborating with and advising the WSA in order to make the right decisions for your child.

Q. My child is now a teenager. Should I ask for a transition plan now or wait until he is ready to graduate from high school?

A. It is very important to start transition planning early (at age 13 or 14). If you and your child feel that he or she may attend a post secondary education program, this is a good time to gather information about choices and appropriate preparation for specific programs. College may mean one type of high school program, getting ready for a job may mean another kind of curriculum is more appropriate. You will also want to begin looking for activities that focus on developing skills related to independence - either through school programs or programs offered by organizations concerned about young people with disabilities.

Agencies in localities throughout the country offer job-readiness programs, job training and placement. Enlist the services of your school district and local groups such as ARC, the Learning Disabilities Association and other groups that work with individuals with disabilities. Your state's Developmental Disabilities Council can also be a source of information about opportunities to help your child get ready for the working world.

Q. Are college and work in my child's future, and what about independent living?

A. We mentioned previously that there is a wide range of abilities among people with Williams syndrome. For some, college programming is not appropriate, while for others it can be quite rewarding. More and more, young adults with WS are attending college sponsored programs - primarily at local community colleges, but also at larger universities across the country that provide support for learning disabled students. The level of support available for students varies from very little (other than special testing methods and accommodations in work load) to quite pronounced. There is also an increasing number of post- secondary programs whose primary focus is independent living skills; practical academics (such as check balancing and money management); social development; and vocational preparation. The WSA can help you locate these programs.

Adults with WS are working at a variety of paid jobs such as, restaurant workers, office clerks, day care assistants, and "greeters" at major chain stores. Others work as volunteers in nursing homes, hospitals and day care program as well as many other alternatives.. Heart to Heart publishes periodic articles regarding agencies such as Vocational Rehabilitation and others that can be helpful in this process.

Just as there are many options for work, there are many different living arrangements that can be suitable for adults with WS. Some adults with WS are able to live completely on their own, with or without, a roommate. Others are living semi-independently (usually with a roommate) in a supervised apartment complex where they receive minimal to moderate amounts of support. Others live in group homes with other adults with a variety of disabilities, and some prefer to stay at home with their parents. The choice for an appropriate living environment is often influenced by the availability of public transportation and proximity to the adults workplace. Local ARC groups, State Developmental Disabilities Councils and other disability-related groups can help locate local agencies that can help to prepare your son or daughter for independent living and work with him or her on a living arrangement that works best.
Q. My child has graduated from high school and wants very much to find a group of young adults that he/she can relate to, as well as share travel and social opportunities. Can the WSA help?
 
A.  Parent volunteers in many areas work to help initiate and coordinate adult social groups. Groups usually meet informally every month or so to share time together. The WSA provides information about groups that offer chaperoned trips for young adults, and also links parents who have volunteered to host travelers with young people who want to travel. Social activities are also available locally through your ARC and community recreation programs, etc.

Q. What is the outlook for adults with Williams syndrome?

A. The vast majority of adults with Williams syndrome master self-help skills and complete academic and/or vocational school. They are employed in a variety of settings (ranging from supervised to independent jobs). Many adults with Williams syndrome live with their parents; others live in supervised apartments and some are able to live on their own.

Q. My child has just been diagnosed with Williams syndrome. How can the WSA help me?

A. The WSA is a community of individuals with Williams syndrome, their parents and the professionals who work with them.  The WSA provides emotional and professional support, resources and programs for individuals with WS and their families.

Q. What are some of the current activities of the WSA?

  • Advances awareness of Williams syndrome. 
  • Helps people with Williams syndrome reach their highest attainable goals through educational and enrichment programs such as camps, conferences and workshops
  • Educates medical and educational professionals about Williams syndrome
  • Maintains an extensive library of articles and tapes on Williams syndrome
  • Provides information on the most up to date educational strategies and medical treatments for Williams syndrome
  • Actively supports research on Williams syndrome

Q. How is the Williams Syndrome Association supported

    A. The Williams Syndrome Association is a 501(c)(3) non-profit, tax-exempt corporation. It derives support primarily from private donations and fund-raising projects.

Q. How can I support the Williams Syndrome Association?

A. The WSA employs a staff of just 4 full time employees.  We rely on the support of our members and friends to do many things:  provide volunteer help at events and conferences, co-ordinate local activities for families and help with fundraising events.  Families and friends can also contribute financially to the Williams Syndrome Association in many ways. These include: general donations, tributes and memorials, corporate matching gift programs and planned gifts such as wills, trusts, life insurance, securities and/or appreciated property.

Q. How can I get more information about the Williams Syndrome Association?

A. Call us toll-free at: 1-800-806-1871; send an email to info@williams-syndrome.org; or write to us at
WSA, Inc.
570 Kirts Blvd. #223
Troy, MI 48084