Evidence map›Paper›PMID 24948496›Full record

ArticleAJNR. American journal of neuroradiology

Incidental radiologic findings in the 22q11.2 deletion syndrome.

J E Schmitt, J J Yi, D R Roalf, L A Loevner, K Ruparel, D Whinna, M C Souders, D M McDonald-McGinn, E Yodh, S Vandekar and 4 more

Open access · hybridAbstract read
In one paragraph

Article in AJNR. American journal of neuroradiology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
1.6field-weighted citation impact, top 17% 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

17 citing papers in PubMed, 28 citations in OpenAlex.

  1. Charting Brain Structure in 22q11.2 Deletion Syndrome with Clinical Neuroimaging.medRxiv : the preprint server for health sciences · 2026
    Article
  2. Incorporating Velopharyngeal MRI into the Clinical Decision-Making Process for a Patient Presenting with Velopharyngeal Dysfunction Following a Failed Palatoplasty.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2024
    Article
  3. Review
  4. A Comprehensive Analysis of Cerebellar Volumes in the 22q11.2 Deletion Syndrome.Biological psychiatry. Cognitive neuroscience and neuroimaging · 2023
    Article
  5. Heterotopia in Individuals with 22q11.2 Deletion Syndrome.AJNR. American journal of neuroradiology · 2021
    Article
  6. Article
  7. Review
  8. Early language measures associated with later psychosis features in 22q11.2 deletion syndrome.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2020
    Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. [Diagnosis of 22q11.2 deletion syndrome in the context of newly developed psychosis].Neuropsychiatrie : Klinik, Diagnostik, Therapie und Rehabilitation : Organ der Gesellschaft Osterreichischer Nervenarzte und Psychiater · 2016
    Article
  14. Article
  15. Article
  16. Neurodevelopmental Genomic Strategies in the Study of the Psychosis Spectrum.Nebraska Symposium on Motivation. Nebraska Symposium on Motivation · 2016
    Article
  17. 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

14 authors at 3 institutions in 1 country.

J E SchmittFrom the Department of Radiology (J.E.S., L.A.L.), Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania Brain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania.
J J YiBrain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania Department of Psychiatry (J.J.Y.).
D R RoalfBrain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania.
L A LoevnerFrom the Department of Radiology (J.E.S., L.A.L.), Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania.
K RuparelBrain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania.
D WhinnaBrain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania.
M C SoudersDivision of Human Genetics (M.C.S., D.M.M.-M., E.H.Z., B.S.E.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
D M McDonald-McGinnDivision of Human Genetics (M.C.S., D.M.M.-M., E.H.Z., B.S.E.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania Department of Pediatrics (D.M.M.-M., E.H.Z., B.S.E.), University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania Department of Pediatrics (D.M.M.-M., E.H.Z., B.S.E.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
E YodhBrain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania.
S VandekarBrain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania.
E H ZackaiDivision of Human Genetics (M.C.S., D.M.M.-M., E.H.Z., B.S.E.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania Department of Pediatrics (D.M.M.-M., E.H.Z., B.S.E.), University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania Department of Pediatrics (D.M.M.-M., E.H.Z., B.S.E.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
R C GurBrain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania.
B S EmanuelDivision of Human Genetics (M.C.S., D.M.M.-M., E.H.Z., B.S.E.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania Department of Pediatrics (D.M.M.-M., E.H.Z., B.S.E.), University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania Department of Pediatrics (D.M.M.-M., E.H.Z., B.S.E.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
R E GurBrain Behavior Laboratory (J.E.S., J.J.Y., D.R.R., K.R., D.W., E.Y., S.V., R.C.G., R.E.G.), Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania raquel@mail.med.upenn.edu.
University of Pennsylvania · USChildren's Hospital of Philadelphia · USHospital of the University of Pennsylvania · US

Funding

1/2-Brain-Behavior and Genetic Studies of the 22q11DSU01MH087626 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI GUR, RAQUEL E · 2010 to 2014
$6.5M
SCHIZOPHRENIA: A NEUROPSYCHIATRIC PERSPECTIVET32MH019112 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI GUR, RAQUEL E · 1990 to 2024
$6.2M
2/2 Brain, Behavior and Genetic Studies of the 22q11 Deletion StudiesU01MH087636 · NIMH · CHILDREN'S HOSP OF PHILADELPHIA · PI EMANUEL, BEVERLY S · 2010 to 2014
$4.6M
RESEARCH TRACK RADIOLOGY RESIDENCYT32EB004311 · NIBIB · UNIVERSITY OF PENNSYLVANIA · PI Terence P Gade, Misun Hwang · 2005 to 2026
$4.5M
Neurocognitive variability in schizophrenia and youth at-risk for psychosisK01MH102609 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI ROALF, DAVID R · 2014 to 2017
$685k
NIBIB NIH HHS EB004311NIBIB NIH HHS T32 EB004311NIMH NIH HHS K01 MH102609NIMH NIH HHS MH019112NIMH NIH HHS MH087626NIMH NIH HHS MH087636NIMH NIH HHS T32 MH019112NIMH NIH HHS U01 MH087626NIMH NIH HHS U01 MH087636
6 · The paper itself

Abstract

background and purposeThe 22q11.2 deletion syndrome is a common genetic microdeletion syndrome that results in cognitive delays and an increased risk of several psychiatric disorders, particularly schizophrenia. The current study investigates the prevalence of incidental neuroradiologic findings within this population and their relationships with psychiatric conditions. MATERIALS AND

methodsBrain MR imaging from 58 individuals with 22q11.2 deletion syndrome was reviewed by board-certified radiologists by using standard clinical procedures. Intracranial incidental findings were classified into 8 categories and compared with a large typically developing cohort.

resultsThe rate of incidental findings was significantly higher (P < .0001) in 22q11.2 deletion syndrome compared with typically developing individuals, driven by a high prevalence of cavum septum pellucidum (19.0%) and white matter abnormalities (10.3%). Both of these findings were associated with psychosis in 22q11.2 deletion syndrome.

conclusionsCavum septum pellucidum and white matter hyperintensities are significantly more prevalent in patients with the 22q11.2 deletion syndrome and may represent biomarkers for psychosis.

Indexed as

AdolescentAdultBrainDiGeorge SyndromeFemaleHumansIncidental FindingsMalePrevalencePsychotic DisordersWhite Matter

Identifiers

PMID24948496
PMCPMC4440788
OpenAlexW2171376655

What OpenQuestion holds

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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.