Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center

Xiaoli Du; Jennifer Elaine Glass; Stephanie Balow; Lisa M. Dyer; Pamela A. Rathbun; Qiaoning Guan; Jie Liu; Yaning Wu; D. Brian Dawson; Lauren Walters-Sen; Teresa A. Smolarek; Wenying Zhang

doi:10.1007/s10803-021-05337-6

Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center

Xiaoli Du, Jennifer Elaine Glass, Stephanie Balow, Lisa M. Dyer, Pamela A. Rathbun, Qiaoning Guan, Jie Liu, Yaning Wu, D. Brian Dawson, Lauren Walters-Sen, Teresa A. Smolarek, Wenying Zhang^*

^*Corresponding author for this work

Pathology

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2 Scopus citations

Abstract

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%.

Original language	English (US)
Pages (from-to)	4828-4842
Number of pages	15
Journal	Journal of Autism and Developmental Disorders
Volume	52
Issue number	11
DOIs	https://doi.org/10.1007/s10803-021-05337-6
State	Published - Nov 2022

Funding

The authors thank the ordering providers that referred patients to our laboratory for NDR tests. The authors also thank the Genetics and Genomics Diagnostic Laboratory staff that performed the NDR tests.

Keywords

Autism spectrum disorder (ASD)
Copy number variant (CNV)
Fragile X
MECP2
Neurodevelopmental disorders

ASJC Scopus subject areas

Developmental and Educational Psychology

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10.1007/s10803-021-05337-6

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Du, X., Glass, J. E., Balow, S., Dyer, L. M., Rathbun, P. A., Guan, Q., Liu, J., Wu, Y., Dawson, D. B., Walters-Sen, L., Smolarek, T. A., & Zhang, W. (2022). Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center. Journal of Autism and Developmental Disorders, 52(11), 4828-4842. https://doi.org/10.1007/s10803-021-05337-6

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title = "Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center",

abstract = "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%.",

keywords = "Autism spectrum disorder (ASD), Copy number variant (CNV), Fragile X, MECP2, Neurodevelopmental disorders",

author = "Xiaoli Du and Glass, {Jennifer Elaine} and Stephanie Balow and Dyer, {Lisa M.} and Rathbun, {Pamela A.} and Qiaoning Guan and Jie Liu and Yaning Wu and Dawson, {D. Brian} and Lauren Walters-Sen and Smolarek, {Teresa A.} and Wenying Zhang",

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doi = "10.1007/s10803-021-05337-6",

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Du, X, Glass, JE, Balow, S, Dyer, LM, Rathbun, PA, Guan, Q, Liu, J, Wu, Y, Dawson, DB, Walters-Sen, L, Smolarek, TA & Zhang, W 2022, 'Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center', Journal of Autism and Developmental Disorders, vol. 52, no. 11, pp. 4828-4842. https://doi.org/10.1007/s10803-021-05337-6

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AU - Balow, Stephanie

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AU - Rathbun, Pamela A.

AU - Guan, Qiaoning

AU - Liu, Jie

AU - Wu, Yaning

AU - Dawson, D. Brian

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AU - Smolarek, Teresa A.

AU - Zhang, Wenying

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Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center

Abstract

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