Genetic Counseling of Adults With Williams Syndrome: A First Study

作者：Farwig Katrina; Harmon Amanda G; Fontana Kristina M; Mervis Carolyn B; Morris Colleen A^*

来源：American Journal of Medical Genetics Part C-Seminars in Medical Genetics, 2010, 154C(2): 307-315.

DOI：10.1002/ajmg.c.30264

• genetic counseling
• Williams syndrome
• intellectual disability

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.

• 出版日期2010-5-15