Psychiatric Diagnoses in Patients with Williams Syndrome and Their Families

Williams Syndrome (WS) is a genetic disorder associated with mental retardation (MR) and a distinct behavioral phenotype including a friendly and outgoing personality. This population, like others with MR, has been reported to have an increased rate of symptoms of mental illness; however, few studies have used DSM-IV criteria to quantify specific psychiatric diagnoses in WS and the prevalence of psychiatric illness in relatives of individuals with WS and the possible relationship between family and patient diagnoses is currently unknown. Methods: Twenty-one families participated; the patients’ average age was 16 years. DSM-IV diagnoses were applied by using the Anxiety Disorders Interview Schedule (ADIS, Parent and Child Versions) and the Family History Screen. Results: A diagnosis from the ADIS was applicable to 13 patients (62%), and in 16 patients (76%) a diagnosis was applicable in their first-degree family members. Ten patients (48%) had some form of anxiety, specific phobia being the most common. Three patients (14%) had major depressive disorder and 9 patients (43%) had attention-deficit/hyperactivity disorder (ADHD). The presence of anxiety or mood disorders in patients with WS and the presence of these disorders in their family members were unrelated. Conclusions: Patients with WS have a high prevalence of anxiety disorders and of ADHD. The presence of psychiatric disorders in WS did not appear to have a significant relationship to family history of psychiatric disorders, consistent with the hypothesis that the specific genetic alteration in WS causes, or contributes to causing, the anxiety disorders and the ADHD that are so common in the disorder. Populations with mental retardation (MR), especially those with known genetic alterations, offer a window into the effects of genes on determining cognition and behavior. Populations with MR are known to have increased rates of emotional distress and mental illness (1, 2). While estimates vary, the prevalence of