Genetic counseling of adults with Williams syndrome: a first study.

Abstract

We report on a study of genetic counseling to 43 adults with Williams syndrome (WS). Participants were initially asked what they knew about how WS occurs. Genetic counseling was provided with a focus on the basic genetics of WS, recurrence risk, and on participants' attitudes toward socio-cultural topics. Forty-nine percent indicated that they would be okay or happy if their baby had WS, 44% said they would be sad or upset, and 5% were unsure. The sad/upset group was significantly older than the okay/happy group and a significantly higher proportion of the former group indicated that they did not plan to have children. During the post-counseling session participants were questioned to determine if they recalled the facts previously presented. Eighty-one percent correctly gave the odds that their child would have WS. Fifty-three percent considered the 50-50 odds to be a high chance. After genetic counseling, 61% were able to state something that had been taught and 88% indicated that they would want to test their baby for WS before birth. Ninety-eight percent would recommend genetic counseling to others. Findings indicate that based on the type of genetic counseling provided in this study, the majority of individuals with WS-a genetic disorder associated with intellectual disability but with relative strengths in (concrete) language and in verbal rote memory-are able to learn simple facts about the genetics of WS and are eager to respond to socio-cultural questions regarding topics typically included in genetic counseling sessions.