Adults With Rubinstein-Taybi Syndrome

作者：Stevens Cathy A^*; Pouncey Jill; Knowles Darcy

来源：American Journal of Medical Genetics, Part A, 2011, 155A(7): 1680-1684.

DOI：10.1002/ajmg.a.34058

• Rubinstein-Taybi syndrome
• RTS
• RSTS
• adults with genetic syndromes

Information in the medical literature regarding adults with genetic syndromes is limited, making the care of these patients challenging. We conducted a questionnaire study of adults with Rubinstein-Taybi syndrome that addressed medical problems, education, independence, and behavior. The most common medical problems included short stature, obesity, visual difficulties, keloids, eating problems, spine curvature, and joint problems. The adults had typically moderate mental retardation, but most achieved some independence in self-care and communication; many participated in supported work situations. However, approximately one-third were said to have some decreased abilities over time. Behavior problems were common and often worsened with age. Very few of the study participants were seeing a geneticist as an adult. Long-term involvement of geneticists and education of adult primary care providers may help with many of the challenges facing adults with RTS and their families.

• 出版日期2011-7