Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center.
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. S...
| Publicado en: | Journal of Autism & Developmental Disorders Vol. 52; no. 11; pp. 4828 - 4843 |
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| Autores principales: | , , , , , , , , , , , |
| Formato: | algorithm pictorial research tables/charts Journal Article |
| Publicado: |
Springer Nature
Nov2022
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=159632180&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 159632180 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 01623257 AUT jtl: Journal of Autism & Developmental Disorders issn: 01623257 maglogo: N pubinfo: dt: Nov2022 vid: 52 iid: 11 pid: 237 pub: Springer Nature place: New York, New York artinfo: ui: 159632180 153543533 159632180 159632180 10.1007/s10803-021-05337-6 159632180 ppf: 4828 ppct: 15 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center. aug: au: 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 affil: Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, 45229, Cincinnati, OH, USA sug: subj: Mental Disorders Diagnosed in Childhood Familial and Genetic Mental Disorders Diagnosed in Childhood Diagnosis Genetic Screening Algorithms Evaluation Hospitals, Pediatric Human Ohio Retrospective Design Record Review Polymorphism, Single Nucleotide Descriptive Statistics Mutation Alleles Male Female Microarray Analysis Mental Disorders Diagnosed in Childhood Pathology Fragile X Syndrome Diagnosis Autism Spectrum Disorder Diagnosis Male Female ab: 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%. pubtype: Academic Journal doctype: algorithm pictorial research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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