Evidence map›Paper›PMID 31872051›Full record

ArticleNeurology. Genetics2019

Yield of comparative genomic hybridization microarray in pediatric neurology practice.

Shibalik Misra, Greg Peters, Elizabeth Barnes, Simone Ardern-Holmes, Richard Webster, Christopher Troedson, Shekeeb S Mohammad, Deepak Gill, Manoj Menezes, Sachin Gupta and 4 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.4field-weighted citation impact, top 30% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 6 citations in OpenAlex.

  1. Observational
  2. Article
  3. Review
  4. Paroxysmal Movement Disorders.Frontiers in neurology · 2021
    Review
  5. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

14 authors at 1 institution in 3 countries.

Shibalik MisraKids Neuroscience Centre (S.M., R.D.), the Children's Hospital at Westmead, Faculty of Medicine and Health, the University of Sydney; Department of Clinical Genetics (G.P.) at the Children's Hospital at Westmead; Kids Research Institute at Westmead (E.B.); TY Nelson Department of Neurology and Neurosurgery at the Children's Hospital at Westmead Sydney (S.A.-H., R.W., C.T., S.S.M., D.G., M.M., S.G., P.P., J.A., R.C.D.), New South Wales, Australia; and Institute of Child Health (M.K.), University College London, UK.
Greg PetersKids Neuroscience Centre (S.M., R.D.), the Children's Hospital at Westmead, Faculty of Medicine and Health, the University of Sydney; Department of Clinical Genetics (G.P.) at the Children's Hospital at Westmead; Kids Research Institute at Westmead (E.B.); TY Nelson Department of Neurology and Neurosurgery at the Children's Hospital at Westmead Sydney (S.A.-H., R.W., C.T., S.S.M., D.G., M.M., S.G., P.P., J.A., R.C.D.), New South Wales, Australia; and Institute of Child Health (M.K.), University College London, UK.
Elizabeth BarnesKids Neuroscience Centre (S.M., R.D.), the Children's Hospital at Westmead, Faculty of Medicine and Health, the University of Sydney; Department of Clinical Genetics (G.P.) at the Children's Hospital at Westmead; Kids Research Institute at Westmead (E.B.); TY Nelson Department of Neurology and Neurosurgery at the Children's Hospital at Westmead Sydney (S.A.-H., R.W., C.T., S.S.M., D.G., M.M., S.G., P.P., J.A., R.C.D.), New South Wales, Australia; and Institute of Child Health (M.K.), University College London, UK.
Simone Ardern-HolmesKids Neuroscience Centre (S.M., R.D.), the Children's Hospital at Westmead, Faculty of Medicine and Health, the University of Sydney; Department of Clinical Genetics (G.P.) at the Children's Hospital at Westmead; Kids Research Institute at Westmead (E.B.); TY Nelson Department of Neurology and Neurosurgery at the Children's Hospital at Westmead Sydney (S.A.-H., R.W., C.T., S.S.M., D.G., M.M., S.G., P.P., J.A., R.C.D.), New South Wales, Australia; and Institute of Child Health (M.K.), University College London, UK.
Richard WebsterKids Neuroscience Centre (S.M., R.D.), the Children's Hospital at Westmead, Faculty of Medicine and Health, the University of Sydney; Department of Clinical Genetics (G.P.) at the Children's Hospital at Westmead; Kids Research Institute at Westmead (E.B.); TY Nelson Department of Neurology and Neurosurgery at the Children's Hospital at Westmead Sydney (S.A.-H., R.W., C.T., S.S.M., D.G., M.M., S.G., P.P., J.A., R.C.D.), New South Wales, Australia; and Institute of Child Health (M.K.), University College London, UK.
Christopher TroedsonKids Neuroscience Centre (S.M., R.D.), the Children's Hospital at Westmead, Faculty of Medicine and Health, the University of Sydney; Department of Clinical Genetics (G.P.) at the Children's Hospital at Westmead; Kids Research Institute at Westmead (E.B.); TY Nelson Department of Neurology and Neurosurgery at the Children's Hospital at Westmead Sydney (S.A.-H., R.W., C.T., S.S.M., D.G., M.M., S.G., P.P., J.A., R.C.D.), New South Wales, Australia; and Institute of Child Health (M.K.), University College London, UK.
Shekeeb S MohammadKids Neuroscience Centre (S.M., R.D.), the Children's Hospital at Westmead, Faculty of Medicine and Health, the University of Sydney; Department of Clinical Genetics (G.P.) at the Children's Hospital at Westmead; Kids Research Institute at Westmead (E.B.); TY Nelson Department of Neurology and Neurosurgery at the Children's Hospital at Westmead Sydney (S.A.-H., R.W., C.T., S.S.M., D.G., M.M., S.G., P.P., J.A., R.C.D.), New South Wales, Australia; and Institute of Child Health (M.K.), University College London, UK.ORCID 0000-0003-1219-4781
Deepak GillKids Neuroscience Centre (S.M., R.D.), the Children's Hospital at Westmead, Faculty of Medicine and Health, the University of Sydney; Department of Clinical Genetics (G.P.) at the Children's Hospital at Westmead; Kids Research Institute at Westmead (E.B.); TY Nelson Department of Neurology and Neurosurgery at the Children's Hospital at Westmead Sydney (S.A.-H., R.W., C.T., S.S.M., D.G., M.M., S.G., P.P., J.A., R.C.D.), New South Wales, Australia; and Institute of Child Health (M.K.), University College London, UK.
Manoj MenezesKids Neuroscience Centre (S.M., R.D.), the Children's Hospital at Westmead, Faculty of Medicine and Health, the University of Sydney; Department of Clinical Genetics (G.P.) at the Children's Hospital at Westmead; Kids Research Institute at Westmead (E.B.); TY Nelson Department of Neurology and Neurosurgery at the Children's Hospital at Westmead Sydney (S.A.-H., R.W., C.T., S.S.M., D.G., M.M., S.G., P.P., J.A., R.C.D.), New South Wales, Australia; and Institute of Child Health (M.K.), University College London, UK.
Sachin GuptaKids Neuroscience Centre (S.M., R.D.), the Children's Hospital at Westmead, Faculty of Medicine and Health, the University of Sydney; Department of Clinical Genetics (G.P.) at the Children's Hospital at Westmead; Kids Research Institute at Westmead (E.B.); TY Nelson Department of Neurology and Neurosurgery at the Children's Hospital at Westmead Sydney (S.A.-H., R.W., C.T., S.S.M., D.G., M.M., S.G., P.P., J.A., R.C.D.), New South Wales, Australia; and Institute of Child Health (M.K.), University College London, UK.
Peter ProcopisKids Neuroscience Centre (S.M., R.D.), the Children's Hospital at Westmead, Faculty of Medicine and Health, the University of Sydney; Department of Clinical Genetics (G.P.) at the Children's Hospital at Westmead; Kids Research Institute at Westmead (E.B.); TY Nelson Department of Neurology and Neurosurgery at the Children's Hospital at Westmead Sydney (S.A.-H., R.W., C.T., S.S.M., D.G., M.M., S.G., P.P., J.A., R.C.D.), New South Wales, Australia; and Institute of Child Health (M.K.), University College London, UK.
Jayne AntonyKids Neuroscience Centre (S.M., R.D.), the Children's Hospital at Westmead, Faculty of Medicine and Health, the University of Sydney; Department of Clinical Genetics (G.P.) at the Children's Hospital at Westmead; Kids Research Institute at Westmead (E.B.); TY Nelson Department of Neurology and Neurosurgery at the Children's Hospital at Westmead Sydney (S.A.-H., R.W., C.T., S.S.M., D.G., M.M., S.G., P.P., J.A., R.C.D.), New South Wales, Australia; and Institute of Child Health (M.K.), University College London, UK.
Manju A KurianKids Neuroscience Centre (S.M., R.D.), the Children's Hospital at Westmead, Faculty of Medicine and Health, the University of Sydney; Department of Clinical Genetics (G.P.) at the Children's Hospital at Westmead; Kids Research Institute at Westmead (E.B.); TY Nelson Department of Neurology and Neurosurgery at the Children's Hospital at Westmead Sydney (S.A.-H., R.W., C.T., S.S.M., D.G., M.M., S.G., P.P., J.A., R.C.D.), New South Wales, Australia; and Institute of Child Health (M.K.), University College London, UK.
Russell C DaleKids Neuroscience Centre (S.M., R.D.), the Children's Hospital at Westmead, Faculty of Medicine and Health, the University of Sydney; Department of Clinical Genetics (G.P.) at the Children's Hospital at Westmead; Kids Research Institute at Westmead (E.B.); TY Nelson Department of Neurology and Neurosurgery at the Children's Hospital at Westmead Sydney (S.A.-H., R.W., C.T., S.S.M., D.G., M.M., S.G., P.P., J.A., R.C.D.), New South Wales, Australia; and Institute of Child Health (M.K.), University College London, UK.
Children's Hospital at Westmead · AU

Funding

Department of Health RP-2016-07-019
6 · The paper itself

Abstract

objectiveThe present study investigated the diagnostic yield of array comparative genomic hybridization (aCGH) in a large cohort of children with diverse neurologic disorders as seen in child neurology practice to test whether pathogenic copy number variants (CNVs) were more likely to be detected in specific neurologic phenotypes.

methodsA retrospective cross-sectional analysis was performed on 555 children in whom a genetic etiology was suspected and who underwent whole-genome aCGH testing between 2006 and 2012. Neurologic phenotyping was performed using hospital medical records. An assessment of pathogenicity was made for each CNV, based on recent developments in the literature.

resultsForty-seven patients were found to carry a pathogenic CNV, giving an overall diagnostic yield of 8.59%. Certain phenotypes predicted for the presence of a pathogenic CNV, including developmental delay (odds ratio [OR] 3.69 [1.30-10.51]), cortical visual impairment (OR 2.73 [1.18-6.28]), dysmorphism (OR 2.75 [1.38-5.50]), and microcephaly (OR 2.16 [1.01-4.61]). The combination of developmental delay/intellectual disability with dysmorphism and abnormal head circumference was also predictive for a pathogenic CNV (OR 2.86 [1.02-8.00]). For every additional clinical feature, there was an increased likelihood of detecting a pathogenic CNV (OR 1.18 [1.01-1.38]).

conclusionsThe use of aCGH led to a pathogenic finding in 8.59% of patients. The results support the use of aCGH as a first tier investigation in children with diverse neurologic disorders, although whole-genome sequencing may replace aCGH as the detection method in the future. In particular, the yield was increased in children with developmental delay, dysmorphism, cortical visual impairment, and microcephaly.

Identifiers

PMID31872051
PMCPMC6878849
OpenAlexW2981520618

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.