Page 154 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Chapter 5
resolved by discussion. Reference lists of the included studies were hand-
searched for additional relevant articles.
Quality assessment
To assess the relevance and validity of the included articles, we performed
a critical appraisal using the Risk of bias assessment tool for prevalence
studies,10 which was adapted and specified to our research question (See
Supplementary 2). The quality of the studies was assessed independently
by two reviewers (EV, MN and/or EVS) and discrepancies were resolved
by discussion. In the absence of reference scores, we decided to exclude
studies with a very high risk of bias (≥7/10 points) for data extraction. Risk
of bias assessment included selection bias, standardization, measurement
bias and non-response bias. In case of overlap of populations of the same
research group, the study with the lowest risk of bias was included.
Data extraction
Data on visual acuity (VA), refractive errors, eye position and motility, eye
lid abnormalities, biomicroscopic and fundoscopic results were extracted
by one reviewer and verified by a second reviewer. VA measurements were
transformed to logarithm of the minimum angle of resolution (LogMAR) for
uniformity. We categorized VA as (near) normal (≤0.30 LogMAR), mild (>0.30
–
<0.50 LogMAR), moderate (≥0.50
–
<1.0 LogMAR) or severely impaired
(≥1.0 LogMAR) according to criteria of the World Health organization.11
Dutch multicenter cross-sectional study
Study design and setting
The study was approved by the institutional ethical committees of the
University Medical Center Utrecht (UMCU, #18-510/C), Máxima Medical
Center Veldhoven (MMCV, #L20.044), and Maastricht University Medical
Center+ (MUMC+, #2019-1321). Through a review of medical records,
we systematically compiled data of 22q11.2DS patients that visited the
ophthalmological outpatient clinic of UMCU, MMCV, and/or MUMC+
between January 1992 and January 2021. All centers are multidisciplinary
outpatient clinics for 22q11.2DS. Ophthalmic screening was carried out
as regular screening after diagnosis or referral in all clinics and only in a
minority of cases upon clinical indication.
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