Evidence map›Paper›PMID 33205886›Full record

ArticleAmerican journal of medical genetics. Part A2021

The spectrum of brain malformations and disruptions in twins.

Kaylee B Park, Teresa Chapman, Kimberly A Aldinger, Ghayda M Mirzaa, Jordan Zeiger, Anita Beck, Ian A Glass, Robert F Hevner, Anna C Jansen, Desiree A Marshall and 8 more

Open access · bronzeAbstract readCase ReportsTwin Study
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of medical genetics. Part A, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
4.6field-weighted citation impact, top 5% 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

11 citing papers in PubMed, 32 citations in OpenAlex.

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  11. Using the Term Amyoplasia Loosely Can Lead to Confusion.American journal of human genetics · 2020
    Article
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

18 authors at 10 institutions in 6 countries.

Kaylee B ParkUniversity of Washington School of Medicine, Seattle, Washington, USA.
Teresa ChapmanDepartment of Radiology, University of Washington School of Medicine, Seattle, Washington, USA.
Kimberly A AldingerSeattle Children's Research Institute, Center for Integrative Brain Research, Seattle, Washington, USA.
Ghayda M MirzaaSeattle Children's Research Institute, Center for Integrative Brain Research, Seattle, Washington, USA.
Jordan ZeigerSeattle Children's Research Institute, Center for Integrative Brain Research, Seattle, Washington, USA.
Anita BeckDepartment of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.
Ian A GlassDepartment of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.
Robert F HevnerDepartment of Pathology, University of California San Diego, La Jolla, California, USA.
Anna C JansenNeurogenetics Research Group, Reproduction Genetics and Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, Brussels, Belgium.
Desiree A MarshallDepartment of Anatomic Pathology and Neuropathology, University of Washington School of Medicine, Seattle, Washington, USA.
Renske OegemaUniversity Medical Center Utrecht, Department of Genetics, Utrecht, The Netherlands.
Elena ParriniPediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.
Russell P SanetoDepartment of Neurology, University of Washington School of Medicine, Seattle, Washington, USA.
Cynthia J CurryGenetic Medicine, Department of Pediatrics, University of California San Francisco, Fresno, California, USA.
Judith G HallDepartments of Medical Genetics and Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, Canada.
Renzo GuerriniPediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.
Richard J LeventerDepartment of Neurology, Royal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne Department of Pediatrics, Melbourne, Australia.
William B DobynsDepartment of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, Minnesota, USA.
University of Washington · USSeattle Children's Hospital · USUniversity of Florence · ITAdvanced Genetic Systems (United States) · USBC Children's Hospital · CARoyal Children's Hospital · AUUniversity Medical Center Utrecht · NLUniversity of California San Diego · USUniversity of Minnesota · USVrije Universiteit Brussel · BE

Funding

LABORATORY OF DEVELOPMENTAL BIOLOGYR24HD000836 · NICHD · UNIVERSITY OF WASHINGTON · PI Ian Amos Glass · 1995 to 2026
$16.9M
The Genetic Basis of Mid-Hindbrain MalformationsR01NS050375 · NINDS · UNIVERSITY OF MINNESOTA · PI DOBYNS, WILLIAM B. · 2005 to 2019
$9.9M
Mechanisms of Brain Dysmorphology in MN1 C-Terminal Truncation Syndrome, a Novel Intellectual Developmental Disability Disorder P50HD103524 · NICHD · UNIVERSITY OF WASHINGTON · PI DANIEL DOHERTY · 2020 to 2026
$9.9M
Megalencephaly and segmental brain overgrowth in humansR01NS092772 · NINDS · SEATTLE CHILDREN'S HOSPITAL · PI MILLEN, KATHLEEN JOYCE · 2015 to 2019
$3.3M
Genes and pathways underlying brain overgrowth and focal cortical malformationsK08NS092898 · NINDS · SEATTLE CHILDREN'S HOSPITAL · PI MIRZAA, GHAYDA · 2015 to 2019
$930k
National Institute of Child Health and Human Development R24HD000836NICHD NIH HHS P50 HD103524NICHD NIH HHS R24 HD000836NINDS NIH HHS 5R01NS050375NINDS NIH HHS K08 NS092898NINDS NIH HHS K08NS092898NINDS NIH HHS R01 NS050375NINDS NIH HHS R01 NS092772
6 · The paper itself

Abstract

Twins have an increased risk for congenital malformations and disruptions, including defects in brain morphogenesis. We analyzed data on brain imaging, zygosity, sex, and fetal demise in 56 proband twins and 7 less affected co-twins with abnormal brain imaging and compared them to population-based data and to a literature series. We separated our series into malformations of cortical development (MCD, N = 39), cerebellar malformations without MCD (N = 13), and brain disruptions (N = 11). The MCD group included 37/39 (95%) with polymicrogyria (PMG), 8/39 (21%) with pia-ependymal clefts (schizencephaly), and 15/39 (38%) with periventricular nodular heterotopia (PNH) including 2 with PNH but not PMG. Cerebellar malformations were found in 19 individuals including 13 with a cerebellar malformation only and another 6 with cerebellar malformation and MCD. The pattern varied from diffuse cerebellar hypoplasia to classic Dandy-Walker malformation. Brain disruptions were seen in 11 individuals with hydranencephaly, porencephaly, or white matter loss without cysts. Our series included an expected statistically significant excess of monozygotic (MZ) twin pairs (22/41 MZ, 54%) compared to population data (482/1448 MZ, 33.3%; p = .0110), and an unexpected statistically significant excess of dizygotic (DZ) twins (19/41, 46%) compared to the literature cohort (1/46 DZ, 2%; p < .0001. Recurrent association with twin-twin transfusion syndrome, intrauterine growth retardation, and other prenatal factors support disruption of vascular perfusion as the most likely unifying cause.

Indexed as

AdultBrainDiseases in TwinsFemaleHumansInfant, NewbornMalePregnancyReview Literature as TopicTwins, DizygoticTwins, Monozygoticcerebellar hypoplasiaDandy-Walker malformationmalformations of cortical developmenttwinningtwinszygosity

Identifiers

PMID33205886
PMCPMC8683564
OpenAlexW3100308864

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.