Page 116 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Chapter 3
Abstract
Previous 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.
114