Williams syndrome is a genetic condition first described by Dr. J. C. P. Williams in 1961 in New Zealand.
Research has identified a defect in the dcl-elastin gene on chromosome 7 in people with Williams syndrome (WS). This defect explains many of the syndrome's characteristics, though other deletions in adjacent genetic regions are still being studied. The incidence is about 1 in 20,000 births, though these figures may change as the condition becomes better recognized and properly diagnosed—until recently, it often went undetected.
Children and adults with WS may look similar to one another, yet show significant differences. It's important to remember that each person with WS displays only some of these typical features.
Neuropsychological Features
- Cognitive development: Learning difficulties ranging from mild to severe, often accompanied by problems with spatial awareness and motor coordination.
- Behavioral development: Outgoing, extremely sociable with adults (including strangers), talkative, enthusiastic about certain situations.
- Motor development: Delayed walking and motor coordination.
One Woman's Story: Elisabetta, Known as Betta
Elisabetta, or Betta to her friends, is a 41-year-old woman who works and is quite independent. She is sensitive, sociable, and affectionate. She can be lazy and tires easily, yet she is also determined in pursuing what she wants. She reads situations with intelligence and cunning, adapting her approach to reach her goals or resist unwanted pressure.
At times she becomes aggressive, looking for scapegoats—particularly her parents, with whom she lives.
Her weight troubles her deeply. She is unhappy with how she looks. Food, for her, is a kind of revenge, a compensation for the many sacrifices, frustrations, and humiliations she has endured and continues to face.
She has two sisters, now married with children of their own, whom she loves dearly and who care for her greatly. Yet they are also a source of painful comparison. She wishes she looked like them. She wishes she too could marry and have children. This longing haunts her and often brings her sadness. She wants all her mother's attention and grows jealous when her mother spends time with her grandchildren.
Only in 1989 did we learn, after another medical visit, that Betta had a syndrome we had never heard of: Williams syndrome. The diagnosis didn't really change how we approached things. What more could we have done than what we were already doing?
From birth, her growth was slow and difficult. Medical visits and tests were frequent—she had been diagnosed with a congenital heart condition.
At two and a half, she had eye surgery for severe strabismus. At seventeen, she underwent heart surgery—a complex procedure—for aortic valve stenosis and other complications discovered during open-heart surgery.
We attributed Betta's health issues and personality traits to these conditions. When the Williams syndrome diagnosis came, it didn't help much. Elisabetta was already grown, and the interventions that might have improved her condition had already been done.
Her schooling was demanding, difficult, and uneven, but steady and consistent. We built on what she could learn and what interested her most: music, English, and computers.
Mathematics was always a struggle.
Betta was given a lot of support, and all of it helped her develop good relationships with everyone and be accepted warmly.
Her life has been hard—for her, for us, for family members who have always stood by her. It has caused tension and conflict at times. Yet perseverance, patience, determination, and faith that she could always grow a little more—along with the love we've given her—have borne fruit.
- A mother, 2002
Italian Williams Syndrome AssociationThe association (ONLUS) was founded by a group of parents determined to help families get accurate information about the clinical, rehabilitation, educational, social, and legal aspects of the syndrome. Early, targeted intervention has proven essential for better development of cognitive and social skills in children with WS. The association works to promote scientific research and knowledge, fostering better acceptance and inclusion of people with WS in families, schools, and society. For more information, visit the AISW association website.