Page 35 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Parkinsonism in GNDs
three 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 assessment
We 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.13
2
Data extraction
We 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).
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