Page 63 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Parkinsonism in GNDs
syndrome” to avoid hits with the word “down”, “weaver” (index/
technique) and “Cohen” (-kappa) in another meaning.
5. Removal of “syndrome” after the term “intellectual disability”,
e.g. “Spastic paraplegia glaucoma intellectual disability
syndrome”
6. Simplification of descriptive search terms:
“Partial deletion of the short arm of chromosome 7”  “7p
deletion”
“Partial trisomy/tetrasomy of the short arm of chromosome 9”
”trisomy 9p” OR “tetrasomy 9p”
Terms not found in the search database and replaced** by synonym (n=4)
derived from Orphanet:
“Thyrocerebrorenal syndrome”  “Cutler Bass Romshe”
“Amelocerebrohypohidrotic syndrome” “Kohlschütter Tönz”
“Autosomal recessive cerebelloparenchymal disorder type 3”  “Auto-
somal recessive spinocerebellar ataxia type 2”
“Osteoglophonic dysplasia” ”Osteoglophonic dwarfism”
**An exception for these disorders was made because of an error that
resulted in the search of only the word “syndrome” or “disorder” or “dys-
plasia”
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