Page 60 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Chapter 2
sMethods 1. Search strategy
Description
General search terms related to “genetic disease”, “neurodevelopmental
disorder” and “Parkinson’s disease/parkinsonism” were included in the
search. Mesh terms in the first subheading of “genetic disease, inborn” were
included if they have been associated with a neurodevelopmental disorder.
General search terms were combined with a list of genetic disorders
associated with a neurodevelopmental abnormality. This list of search
terms was composed using the human phenotype ontology (HPO) database
on http://www.orphadata.org/cgi-bin/index.php. All terms describing a
rare genetic disease assigned to the subontology neurodevelopmental
abnormality, defined by HPO as ‘A deviation from normal of the neurological
development of a child, which may include any or all of the aspects of the
development of personal, social, gross or fine motor, and cognitive abilities’
were included; collectively, the ‘HPO/ND-list’.
PubMed
General search terms
Parkinson/parkinsonism
“Parkinsonian Disorders”[Mesh] OR Parkinson*[tiab] OR “lewy body
dementia”[tiab] OR lewy body disease*[tiab]
AND
Genetic disease/neurodevelopemental disorder
“Genetic Diseases, Inborn”[Mesh:NoExp] OR genetic disease*[tiab] OR genetic
disorder*[tiab] OR hereditary disease*[tiab] OR hereditary disorder*[tiab]
OR single-gene defect*[tiab] OR “Chromosome Disorders”[Mesh] OR
chromosome disorder*[tiab] OR chromosomal disorder*[tiab] OR
“Metabolism, Inborn Errors”[Mesh] OR inborn error metabolism*[tiab]
OR inborn metabolism error*[tiab] OR “Intellectual Disability”[Mesh] OR
intellectual disabilit*[tiab] OR mental retardation*[tiab] OR Intellectual
Development Disorder*[tiab] OR Intellectual Developmental Disorder*[tiab]
OR mental deficienc*[tiab] OR neurodevelopmental delay[tiab] OR
neurodevelopment delay[tiab] OR “Alagille Syndrome”[Mesh] OR syndrome
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