Page 116 - Demo

Chapter 3114AbstractPrevious research has suggested that the prevalence of Parkinson’s disease (PD) in adults with 22q11.2 deletion syndrome (22q11.2DS) is ~6%. However, this estimate was based on a relatively small sample of adults with 22q11.2DS, aged 35-64 years. Therefore, we conducted an international multicenter study including 856 adults (47% male, mean age 46.5 ± 15.4 years) with 22q11.2DS, and examined the prevalence of, and potential contributors to, established PD (defined as a clinical diagnosis by a neurologist, including bradykinesia and at least one of either rest tremor or rigidity). Established PD was found in 1.8% (95% CI: 0.9–2.6) of the study sample, and 3.4% (95% CI: 2.2–4.6%) when suspected of PD was also included. A sharp increase in the prevalence of PD was seen in adults aged 50 years and older; 11.7% had PD. In contrast to sporadic PD, male sex was not associated with an increased PD risk. In conclusion, results of this study showed a prevalence of PD of 1.8% in 22q11.2DS, that increased to >10% in those aged 50 years and older. Periodic neurological evaluation, preferably by a movement disorder specialist, is warranted in all adults with 22q11.2DS aged 40 years and older, in order to enable early diagnosis and treatment.