Evidence map›Paper›PMID 30853154›Full record

ArticlePediatric neurology2019

Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome.

Alyssa M Day, Charles E McCulloch, Adrienne M Hammill, Csaba Juhász, Warren D Lo, Anna L Pinto, Daniel K Miles, Brian J Fisher, Karen L Ball, Angus A Wilfong and 10 more

Open access · greenAbstract readMulticenter Study
In one paragraph

Article in Pediatric neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed
4.7field-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

28 citing papers in PubMed, 52 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. Biomarker development in Sturge-Weber syndrome.Journal of neurodevelopmental disorders · 2025
    Review
  7. Observational
  8. Transcriptomic Profiling Unveils EDN3Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025
    Article
  9. Article
  10. Article
  11. Article
  12. Capillary malformations.The Journal of clinical investigation · 2024
    Review
  13. Article
  14. Review
  15. Article
  16. Review
  17. Article
  18. Review
  19. Review
  20. Review
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

20 authors at 13 institutions in 1 country.

Alyssa M DayNeurology, Hugo Moser Kennedy Krieger Research Institute, Baltimore, Maryland.
Charles E McCullochDepartment of Epidemiology and Biostatistics, University of California, San Francisco, California.
Adrienne M HammillDivision of Hematology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Csaba JuhászDepartments of Pediatrics, Neurology, and Neurosurgery, Wayne State University School of Medicine, Children's Hospital of Michigan, Detroit, Michigan.
Warren D LoNeurology, Nationwide Children's Hospital, Columbus, Ohio.
Anna L PintoDepartment of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
Daniel K MilesDepartment of Neurology, Pediatric Epilepsy, New York University Langone Health, New York, New York.
Brian J FisherThe Sturge-Weber Foundation, Houston, Texas.
Karen L BallThe Sturge-Weber Foundation, Houston, Texas.
Angus A WilfongNeurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona.
Alex V LevinPediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania.
Avrey J ThauPediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania.
Anne M ComiDepartment of Neurology and Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland. Electronic address: comi@kennedykrieger.org.
National Institute of Health Sponsor: Rare Disease Clinical Research Consortium (RDCRN) Brain and Vascular Malformation Consortium (BVMC) SWS Investigator Group
Jim I KoenigNational Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland.
Michael T LawtonDepartment of Neurosurgery, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona.
Douglas A MarchukMolecular Genetics and Microbiology Department, Duke University School of Medicine, Durham, North Carolina.
Marsha A MosesVascular Biology Program, Boston Children's Hospital, Boston, Massachusetts; Department of Surgery, Harvard Medical School and Boston Children's Hospital, Boston, Massachusetts.
Sharon F FreedmanDepartment of Opthalmology, Duke Eye Center, Duke University Medical Center, Durham, North Carolina.
Jonathan PevsnerDepartment of Neurology, Kennedy Krieger Institute, Baltimore, Maryland; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Kennedy Krieger Institute · USBarrow Neurological Institute · USBoston Children's Hospital · USSturge Weber Foundation · USWills Eye Hospital · USCincinnati Children's Hospital Medical Center · USDuke Medical Center · USDuke University · USNational Institutes of Health · USNationwide Children's Hospital · USNYU Langone Health · USUniversity of California, San Francisco · USWayne State University · US

Funding

The Impact of COVID-19 on People Living with Rare Diseases and Their FamiliesU2CTR002818 · NCATS · CINCINNATI CHILDRENS HOSP MED CTR · PI Maurizio Macaluso, Michael Wagner · 2019 to 2026
$51.2M
VCRC Administration UnitU54NS065705 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KIM, HELEN · 2009 to 2023
$20.8M
Longitudinal Neuroimaging in Sturge-Weber SyndromeR01NS041922 · NINDS · WAYNE STATE UNIVERSITY · PI JUHASZ, CSABA · 2003 to 2024
$6.2M
NCATS NIH HHS U2C TR002818NINDS NIH HHS R01 NS041922NINDS NIH HHS U54 NS065705
6 · The paper itself

Abstract

backgroundSturge-Weber syndrome (SWS) is caused by a somatic mutation in GNAQ leading to capillary venous malformations in the brain presenting with various neurological, ophthalmic, and cognitive symptoms of variable severity. This clinical variability makes accurate prognosis difficult. We hypothesized that the greater extent of physical factors (extent of skin, eye, and brain involvement), presence of possible genetic factors (gender and family history), and age of seizure onset may be associated with greater symptom severity and need for surgery in patients with SWS.

methodsThe questionnaire was collected from 277 participants (age: two months to 66 years) with SWS brain involvement at seven US sites.

resultsBilateral brain involvement was associated with both learning disorder and intellectual disability, whereas port-wine birthmark extent was associated with epilepsy and an increased likelihood of glaucoma surgery. Subjects with family history of vascular birthmarks were also more likely to report symptomatic strokes, and family history of seizures was associated with earlier seizure onset. Learning disorder, intellectual disability, strokelike episodes, symptomatic stroke, hemiparesis, visual field deficit, and brain surgery were all significantly associated with earlier onset of seizures.

conclusionThe extent of brain and skin involvement in SWS, as well as the age of seizure onset, affect prognosis. Other genetic factors, particularly variants involved in vascular development and epilepsy, may also contribute to neurological prognosis, and further study is needed.

Indexed as

EpilepsyGlaucomaIntellectual DisabilityLearning DisabilitiesNeurosurgical ProceduresOphthalmologic Surgical ProceduresPort-Wine StainStrokeSturge-Weber SyndromeAdolescentAdultAge of OnsetChildChild, PreschoolDisease SusceptibilityFemaleBrain involvementFamily historyGenderGlaucomaPort-wine birthmarkSeizuresSturge-Weber syndrome

Identifiers

PMID30853154
PMCPMC7288445
OpenAlexW2906489077

What OpenQuestion holds

Textmetadata
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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.