Page 35 - Demo

Parkinsonism in GNDs332three reported cases, because of difficulties determining whether these were associated with brain development and because significance of the variant was often uncertain, and 3) neurogenetic disorders with solely motor aspects of development in childhood, such as most spinocerebellar ataxias. Results were limited to studies written in English and reports that provided original data. We performed a thorough cross-reference check.Quality assessmentWe critically appraised full-text articles using the National Heart, Lung and Blood Institute (NIH-NHLBI) study quality assessment tools for case-control and cohort studies.13Data extractionWe extracted study characteristics and descriptive data from the included studies using a modified version of the Cochrane Consumers and Communication Review Group’s Data Extraction Template (https://cccrg.cochrane.org). Data extracted comprised: general information (e.g., first author, year of publication, study design, and number of patients reported to have parkinsonism), patient characteristics (e.g., age, sex, presence/absence and severity of intellectual disability, full scale intelligence quotient), other cognitive disorders or problems on other cognitive domains, genetics (e.g., specific diagnosis and results of genetic testing including those related to Parkinson’s disease disease-causing and risk genes), and parkinsonian features (e.g., age at motor onset, presence/absence of cardinal motor features and [proposed] pathophysiology).Data presentation We use descriptive summaries to present our findings. Patient characteristics and parkinsonian features per genetic disorder are presented in a heatmap, illustrating which features were most reported per genetic disorder in addition to the proposed underlying mechanisms (Figure 1 and Supplementary Figure S2).