ERIC Number: EJ1351497
Record Type: Journal
Publication Date: 2022-Nov
Pages: 15
Abstractor: As Provided
ISBN: N/A
ISSN: ISSN-0162-3257
EISSN: EISSN-1573-3432
Available Date: N/A
Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center
Du, Xiaoli; Glass, Jennifer Elaine; Balow, Stephanie; Dyer, Lisa M.; Rathbun, Pamela A.; Guan, Qiaoning; Liu, Jie; Wu, Yaning; Dawson, D. Brian; Walters-Sen, Lauren; Smolarek, Teresa A.; Zhang, Wenying
Journal of Autism and Developmental Disorders, v52 n11 p4828-4842 Nov 2022
Our institution developed and continuously improved a Neurodevelopmental Reflex (NDR) algorithm to help physicians with genetic test ordering for neurodevelopmental disorders (NDDs). To assess its performance, we performed a retrospective study of 511 patients tested through NDR from 2018 to 2019. SNP Microarray identified pathogenic/likely pathogenic copy number variations in 27/511 cases (5.28%). Among the 484 patients tested for Fragile X FMR1 CGG repeats, a diagnosis (0.20%) was established for one male mosaic for a full mutation, a premutation, and a one-CGG allele. Within the 101 normocephalic female patients tested for "MECP2," two patients were found to carry pathogenic variants (1.98%). This retrospective study suggested the NDR algorithm effectively established diagnoses for patients with NDDs with a yield of 5.87%.
Descriptors: Test Construction, Genetic Disorders, Patients, Diagnostic Tests, Clinical Diagnosis, Neurodevelopmental Disorders, Children
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Publication Type: Journal Articles; Reports - Research
Education Level: N/A
Audience: N/A
Language: English
Sponsor: N/A
Authoring Institution: N/A
Identifiers - Location: Ohio (Cincinnati)
Grant or Contract Numbers: N/A
Author Affiliations: N/A