Page 36 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Chapter 2
Data availability
The data that supports the findings of this study are available in the
supplementary material of this article. The template that was used for data-
extraction is available upon request.
Results
Of a total of 5269 identified records, 208 reports met the inclusion criteria:
186 case studies and 22 observational case-control or cohort studies (see
Flow-chart, Supplementary Figure S1). The 208 reports contained individual
data of 422 patients with 69 different GNDs. Sex was reported in 395
patients, and 212 (53.7%) were male. The median age at last examination
in 362/422 of the patients was 35 (range 0-77) years (for a list of included
studies see Supplementary Tables S1 and S2, and for excluded studies
Supplementary Table S3).
Quality assessments
The assessment of study quality for cohort and case-control studies is
detailed in Supplementary Tables S4 and S5. Of the twenty-two cohort and
case-control studies, fifteen were rated good, six were rated fair and one
case-control study was considered to be of poor quality because of a very
limited description of aims and methods.
Different GNDs that presented with parkinsonism
Most patients in the cohort had a monogenic disorder, with more
than ten patients, from most to least frequent, reported for each of
the following: beta-propeller protein-associated neurodegeneration
(BPAN), cerebrotendinous xanthomatosis, Rett syndrome, POLG, SYNJ1,
DNAJC6, tyrosine hydroxylase deficiency, Dravet syndrome (SCN1A),
neurofibromatosis type I, phosphoglycerate kinase deficiency and spastic
paraplegia type 11. Between five and ten patients had juvenile neuronal
ceroid lipofuscinosis (JNCL), PTRHD1, RAB39B, X-linked parkinsonism with
spasticity, Alexander disease, dopa-responsive dystonia-parkinsonism
(NR4A2), Fragile-X syndrome or spastic paraplegia type 15 (SPG15). The
only copy number variation (CNV) and aneuploid conditions with more than
34