Page 171 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Ocular findings in 22q11.2DS
1.3 Cochrane search terms
Search terms used in Cochrane
Domain ((refraction OR vision OR visual OR ophthalm* OR eye OR eyes OR conjunctiv*
OR cornea* OR ocular OR optic* OR orbit* OR retina* OR sclera* OR uvea* OR
optic-nerve OR eyelid* OR lacrima* OR lens* OR pupil* OR iris OR intra-ocular
OR intraocular OR cataract OR blindness OR embryotoxon OR tortuous-retinal-
veins OR retinal-vascular-tortuosity OR tortuous-retinal-vessels OR refract* OR
strabismus OR exotropia OR esotropia OR amblyopia OR ptosis OR distichiasis
or astigmati*):ti,ab,kw
Outcome (22q11* OR del22q* OR DiGeorge OR di-george OR Velocardiofacial OR velo-
cardio-facial OR VCF-syndrome OR Conotruncal anomal* face OR CTAF OR
Autosomal dominant Opitz OR opitz G OR GBBB OR G BBB OR sedlackova OR
Cayler OR catch22 OR catch 22 OR shprintzen OR thymic aplasia OR 22q11.2
Deletion Syndrome):ti,ab,kw)
2. Critical appraisal form
Risk of bias item Scoring
External validity
1. Was the study’s target population a close
representation of the standard 22q11.2DS
population?
2. Was the diagnosis genetically confirmed in all
patients?
3. Was some form of random selection used to
select the sample, or was a census undertaken?
4. Was the response rate for the study
≥
75% or
was an analysis performed that showed no
significant difference in relevant demographic
characteristics between responders and non-
responders?
Internal validity
5. Were data collected directly from the subjects
(as opposed to proxy)?
6. Was an acceptable definition of ocular features
measured in the study used?
7. Was methods of eye examination described? 8. Was the same mode of data collection used for
all subjects?
9. Was the length of the shortest prevalence
period for the parameter of interest
appropriate?
10. Were the numerator(s) and denominator(s) for
the parameter of interest appropriate?
1 = yes 1 = yes 1 = yes 1 = yes 0 = no or unclear
description
0 = no or unclear
description
0 = no or unclear
description
0 = no or unclear
description
5
1 = yes 1 = yes 1 = yes 1 = yes 1 = yes 1 = yes 0 = no or unclear
description
0 = no or unclear
description
0 = no or unclear
description
0 = no or unclear
description
0 = no or unclear
description
0 = no or unclear
description
Source: Risk of bias assessment tool for prevalence studies, Hoy D, Brooks P, Woolf A, Blyth F, March
L, Bain C, et al. Assessing risk of bias in prevalence studies: modification of an existing tool and
evidence of interrater agreement. J Clin Epidemiol. 2012;65(9):934-9.
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