Page 118 - Demo

Chapter 3116SampleIn total, 856 individuals (454 females, 53.0%) aged 16 years and older with a molecularly confirmed typical 22q11.2 deletion (i.e., including the LCR22A-LCR22B region)7 entered the study. The median age of the study sample was 29 (range 16 – 76) years. Additional information regarding demographic and patient characteristics of the study sample is presented in Supplementary Table 1.Identification and characterization of adults with Parkinson’s diseaseWe systematically extracted data on demographic variables (sex and age at last clinical assessment, death, or at the time of chart review (Toronto)), results of genetic analysis, history of medication use, medical history, and available information on PD expression (including dopaminergic imaging) and treatment. We defined PD as a clinical diagnosis by a neurologist, including bradykinesia and at least one of either rest tremor or rigidity,8 and suspected PD as a clinical diagnosis or suspicion of PD but failure to meet all above criteria for PD. This separate category of adults with suspected PD was included to account for the fact that there were several adults with a clinical suspicion of PD, who did not meet all criteria for PD. Reasons for not meeting the formal criteria included lack of information in the medical file regarding parkinsonian motor features in the presence of a clinical PD diagnosis (n=3), or a clinical suspicion of PD based on supportive criteria, such as positive treatment response, without a formal PD diagnosis (n=11). Seven cases with PD and no cases with suspected PD were reported previously.2, 4Data presentation and analysisWe calculated prevalence rates of PD and their 95% confidence intervals (95% CIs), using the formula CI= p ± 1.96* √(p(1-p)/n), per sex and age group.8 Pearson’s chi-square tests were used to compare PD prevalence rates between groups (i.e., sex and age). The observed number of PD cases in adults with 22q11.2DS was compared with the expected number of PD cases based on data from the general population within the age group of 40-69 years, using an age adjusted standardized morbidity ratio (SMR).8This age group was based on the availability of population based data from the age of 40 years,8 and the limited number of adults with 22q11.2DS