Page 62 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Chapter 2
Genetic disease/neurodevelopmental disorder
genetic disorder/de or exp chromosome disorder/ or exp sequence of
congenital defects/ or multiple malformation syndrome/ or intellectual
impairment/de or exp mental deficiency/ or “inborn error of metabolism”/
or exp X chromosome linked disorder/ or (“genetic disease*” or “genetic
disorder*” or “hereditary disease*” or “hereditary disorder*” or “single-gene
defect*” or “chromosome disorder*” or “chromosomal disorder*” or “inborn
error metabolism*” or “inborn metabolism error*” or “intellectual disabilit*” or
“mental retardation*” or “Intellectual Development Disorder*” or “Intellectual
Developmental Disorder*” or “mental deficienc*” or “neurodevelopmental
delay*” or “neurodevelopment delay*” or “X-linked genetic disease*”).
ti,ab,kw. OR #(list ND/HPO for Embase)
NOT
exp Wolff Parkinson White syndrome/ or exp Wilson disease/ or exp
Gaucher disease/ or (“wolff-parkinson-white” or WPW syndrome* or “Fragile
X Tremor Ataxia” or “FXTAS” or “premutation” or Wilson dis* or Wilson`s
dis* or “hepatolenticular degeneration” or “Gaucher” OR GBA deficienc* or
glucocerebrosidase deficienc*).ti,ab,kw.
List of genetic disorders associated with neurodevelopmental abnormality
(ND/HPO-list)
Adjustments to the original HPO/ND-list in order to increase the number of
relevant results
1. Removal of every “-“, e.g. “cerebro-oculo-nasal syndrome” 
“cerebro oculo nasal syndrome”
2. Removal of “microdeletion/duplication” and “syndrome” from
all notations concerning copy number variations (CNVs), e.g.
“22q11.2 microduplication syndrome”
3. Removal of “syndrome” from all notations concerning sex
chromosomal abnormalities, e.g. “49,XXXYY syndrome”
4. Removal of “syndrome” and “disease” at the end of diseases
named after persons, e.g. “Prader Willi syndrome”, in exception
of e.g. “Down syndrome”, “Weaver syndrome” and “Cohen
60