STUDY DESIGN: Systematic Review of Literature.
METHODS: PubMed, the Cochrane Library, and SCOPUS databases were searched through November 2019.
RESULTS: Eight studies (1,924 patients) met criteria (age range: 28-70.9 years, body mass index range: 21.9-37 kg/m2 , and AHI range: 0.5-62 events/hour). Five studies compared ODI and AHI simultaneously, and three had a week to months between assessments. Sensitivities ranged from 32% to 98.5%, whereas specificities ranged from 47.7% to 98%. Significant heterogeneity was present; however, for studies reporting data for a 4% ODI ≥ 15 events/hour, the specificity for diagnosing OSA ranged from 75% to 98%, and only one study reported the positive predictive value, which was 97%. Direct ODI and AHI comparisons were not made because of different hypopnea scoring, different oxygen desaturation categories, and different criteria for grading OSA severity.
CONCLUSION: Significant heterogeneity exists in studies comparing ODI and AHI. Based on currently published studies, consideration should be given for diagnosing adult OSA with a 4% ODI of ≥ 15 events/hour and for recommending further evaluation for diagnosing OSA with a 4% ODI ≥ 10 events/hour. Screening with oximetry may be indicated for the detection of OSA in select patients. Further study is needed before a definitive recommendation can be made. Laryngoscope, 131:440-447, 2021.
OBJECTIVE: The objectives are to (1) establish an international cohort of affected and unaffected individuals with PD-linked variants; (2) provide harmonized and quality-controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD.
METHODS: We conducted a worldwide, systematic online survey to collect individual-level data on individuals with PD-linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype-phenotype relationships were analyzed.
RESULTS: We collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ-1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published.
CONCLUSIONS: Within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD-linked variants; (2) provide harmonized and quality-controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view toward clinical and genetic stratification of patients for gene-targeted clinical trials. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.