Evidence map›Paper›PMID 26236009›Full record

ArticleNature communications2015

Clinically relevant copy number variations detected in cerebral palsy.

Maryam Oskoui, Matthew J Gazzellone, Bhooma Thiruvahindrapuram, Mehdi Zarrei, John Andersen, John Wei, Zhuozhi Wang, Richard F Wintle, Christian R Marshall, Ronald D Cohn and 5 more

Registry-linked trialAbstract read
In one paragraph

Article in Nature communications, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03353194 (The Canadian Cerebral Palsy Registry - Le Registre Canadien de la Paralysie Cérébrale), which is not on this map. Cited by 72 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
72citing papers in PubMed, 3 pooled it
–field-weighted citation impact
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.

NCT03353194 completednot on this map

The Canadian Cerebral Palsy Registry - Le Registre Canadien de la Paralysie Cérébrale

Typeobservational_patient_registrySponsorMcGill University Health Centre/Research Institute of the McGill University Health CentreRan2004 to 2020Enrolled2,771ConditionsCerebral Palsy
3 · Its place in the literature

Who cites it

72 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Trial
  5. Article
  6. Article
  7. A Phenotypic Paradigm for Cerebral Palsy Genetics.medRxiv : the preprint server for health sciences · 2026
    Article
  8. Article
  9. Genetic testing in cerebral palsy with clinical and neuroimaging variables.Developmental medicine and child neurology · 2025
    Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Review
  15. Article
  16. Review
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  18. Article
  19. Review
  20. Review

12 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors.

Maryam OskouiDepartments of Pediatrics and Neurology/Neurosurgery, McGill University, Montreal, Quebec, Canada H3H 1P3.
Matthew J GazzelloneThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 0A4.
Bhooma ThiruvahindrapuramThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 0A4.
Mehdi ZarreiThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 0A4.
John AndersenDepartment of Pediatrics, University of Alberta, Edmonton, Alberta Canada T6G 2B7.
John WeiThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 0A4.
Zhuozhi WangThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 0A4.
Richard F WintleThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 0A4.
Christian R MarshallThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 0A4.
Ronald D CohnProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 0A4.
Rosanna WeksbergProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 0A4.
Dimitri J StavropoulosGenome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8.
Darcy FehlingsHolland Bloorview Kids Rehabilitation Hospital, Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada M4G 1R8.
Michael I ShevellDepartments of Pediatrics and Neurology/Neurosurgery, McGill University, Montreal, Quebec, Canada H3H 1P3.
Stephen W SchererThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 0A4.

Funding

Canadian Institutes of Health Research
6 · The paper itself

Abstract

Cerebral palsy (CP) represents a group of non-progressive clinically heterogeneous disorders that are characterized by motor impairment and early age of onset, frequently accompanied by co-morbidities. The cause of CP has historically been attributed to environmental stressors resulting in brain damage. While genetic risk factors are also implicated, guidelines for diagnostic assessment of CP do not recommend for routine genetic testing. Given numerous reports of aetiologic copy number variations (CNVs) in other neurodevelopmental disorders, we used microarrays to genotype a population-based prospective cohort of children with CP and their parents. Here we identify de novo CNVs in 8/115 (7.0%) CP patients (∼1% rate in controls). In four children, large chromosomal abnormalities deemed likely pathogenic were found, and they were significantly more likely to have severe neuromotor impairments than those CP subjects without such alterations. Overall, the CNV data would have impacted our diagnosis or classification of CP in 11/115 (9.6%) families.

Indexed as

Chromosome AberrationsParentsCase-Control StudiesCerebral PalsyChromosomes, HumanCohort StudiesDNA Copy Number VariationsFemaleGenotypeHumansMaleProspective Studies

Identifiers

PMID26236009
PMCPMC4532872

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Registered trials

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.