Page 170 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Chapter 5
Supplementary legend
Supplementary 1. Search terms for Pubmed, Embase and Cochrane.
Supplementary 2. Critical appraisal form.
Supplementary 3. Summary of risk of bias of studies on ocular findings in
22q11.2DS that underwent a critical appraisal.
Supplementary
1. Search terms for PubMed, Embase and Cochrane
1.1 PubMed search terms
Search terms used in Pubmed
Domain (((“22q11 Deletion Syndrome” [MeSH] OR 22q11* [tiab] OR del22q* [tiab] OR DiGeorge
[tiab] OR di-george [tiab] OR Velocardiofacial [tiab] OR velo-cardio-facial[tiab] OR
VCF-syndrome[tiab] OR (Conotruncal[tiab] AND anomal* [tiab] AND face [tiab]) OR
CTAF [tiab] OR “Autosomal dominant Opitz” [tiab] OR “opitz G” [tiab] OR G/BBB [tiab]
OR GBBB [tiab] OR “G BBB” [tiab] OR sedlackova [tiab] OR Cayler [tiab] OR catch22
[tiab] OR “catch 22” [tiab] OR shprintzen [tiab] OR “thymic aplasia” [tiab] OR 22q11.2
Deletion Syndrome [tiab]))))
Outcome (((((“Eye Diseases”[Mesh] OR “Eye”[Mesh] OR “Ocular Physiological Phenomena”[Mesh]
OR refraction [tiab] OR vision [tiab] OR visual [tiab] OR ophthalm* [tiab] OR eye* [tiab]
OR conjunctiv* [tiab] OR cornea* [tiab] OR ocular [tiab] OR optic* [tiab] OR orbit* [tiab]
OR retina* [tiab] OR sclera* [tiab] OR uvea* [tiab] OR optic-nerve [tiab] OR eyelid* [tiab]
OR lacrima* [tiab] OR lens* [tiab] OR pupil* [tiab] OR iris [tiab] OR intra-ocular [tiab]
OR intraocular[tiab] OR cataract [tiab] OR blindness [tiab] OR embryotoxon [tiab] OR
tortuous-retinal-veins [tiab] OR retinal-vascular-tortuosity [tiab] OR tortuous-retinal-
vessels [tiab] OR refract* [tiab] OR strabismus [tiab] OR exotropia [tiab] OR esotropia
[tiab] OR amblyopia [tiab] OR ptosis [tiab] OR distichiasis [tiab] or astigmati* [tiab]))))
Excluding Animals [Mesh:NoExp] OR “mice”[ti] OR “mouse”[ti] OR rat*[ti] OR “nonhuman”[ti] OR
veterin*[ti] OR monkey*[ti]
1.2 Embase search terms
Search terms Embase
Domain exp chromosome deletion 22q11/ or exp DiGeorge syndrome/ or exp velocardiofacial
syndrome/ or exp opitz syndrome/ or (22q11*).ti,ab. OR (del22q*OR digeorge OR
‘di george’ OR velocardiofacial OR ‘velo cardio facial’ OR ‘vcf syndrom*’).ti,ab. OR
(‘conotruncal’ AND anomal* AND ‘face’).ti,ab,kw. 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’).ti,ab.
Outcome (exp eye disease/ OR exp eye/ OR exp ‘visual system parameters’/ OR exp ‘visual
system function’/) OR (refraction OR vision OR visual OR ophthalm* OR eye* 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.
Excluding Limitations (animal/ or animal experiment/ or animal model/ or nonhuman/) not human/
(mice or mouse or rat? or nonhuman or veterin* or monkey?).ti.
conference abstract or chapter or conference paper or “conference review” or
editorial or erratum or letter or note or “review”
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