Page 121 - Demo

Parkinson’s disease in 22q11.2DS1193When including individuals with a clinical suspicion of PD, 3.4% (95% CI: 2.2–4.6, n=29) was found to have PD and 19.8% (95% CI: 12.4-27.2, n=22) of those aged 50 years and older (Table 1). The SMR increased to 57.3 (95% CI: 37.9–83.4). Clinical characteristics of the 14 adults with suspected PD are presented in Table 3. For the two adults who died, no postmortem results were available. Table 2. Patient characteristics and parkinsonian features in 15 adults with 22q11.2 deletion syndrome and Parkinson’s diseasePatient characteristics N %History of anti-psychotic medication 10/15 66.7Intellectual functioning Normal Borderline Mild intellectual disability Moderate intellectual disability Severe intellectual disability2343313.320.026.720.020.0Parkinsonian features N Mean ± SDAge at PD diagnosis, y Male Female158749.0 ± 10.751.4 ± 10.946.2 ± 10.5Age at motor onset, y Male Female158743.5 ± 12.246.8 ± 11.839.9 ± 12.5N %Bradykinesia 15/15 100.0Rigidity 15/15 100.0Rest tremor 11/14 78.6Postural instability 8/11 72.7Progression motor symptoms 13/13 100.0Symmetrical motor symptomsAsymmetrical motor symptoms1/87/812.587.5 Anti-parkinsonian medication Good response Questionable response15/1511/143/14100.078.621.4Typical findings dopaminergic imaging a 5/7 71.4a One adult without typical findings had dopaminergic imaging several years prior to PD diagnosis,the second adult without typical findings presented with asymmetrical parkinsonism withsymptoms that were stable on risperidone and neuropathology results that included extensive nigral degeneration and loss of TH immunoreactivity in the striatum, extensive degeneration of TH-positive cells in the substantia nigra pars compacta without Lewy bodies or Lewy neurite pathology.2PD= Parkinson’s disease, n=number, SD= standard deviation, y= year.