Evidence map›Paper›PMID 31707771›Full record

ArticleMolecular genetics & genomic medicine2020

Sleep disordered breathing in Marfan syndrome: Value of standard screening questionnaires.

Mudiaga O Sowho, Susheel Patil, Hartmut Schneider, Gretchen MacCarrick, Jason P Kirkness, Lisa F Wolfe, Laura Sterni, Peter A Cistulli, Enid R Neptune

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

Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.5field-weighted citation impact, top 26% 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

4 citing papers in PubMed, 5 citations in OpenAlex.

  1. Snoring and aortic dimension in Marfan syndrome.Sleep and biological rhythms · 2023
    Article
  2. Assessment of pleural pressure during sleep in Marfan syndrome.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2022
    Article
  3. Article
  4. 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

9 authors at 3 institutions in 2 countries.

Mudiaga O SowhoDivision of Pulmonary and Critical Care Medicine, Johns Hopkins School of Medicine, Baltimore, MD, USA.ORCID 0000-0003-3946-0605
Susheel PatilDivision of Pulmonary and Critical Care Medicine, Johns Hopkins School of Medicine, Baltimore, MD, USA.
Hartmut SchneiderDivision of Pulmonary and Critical Care Medicine, Johns Hopkins School of Medicine, Baltimore, MD, USA.
Gretchen MacCarrickMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Jason P KirknessDivision of Pulmonary and Critical Care Medicine, Johns Hopkins School of Medicine, Baltimore, MD, USA.
Lisa F WolfePulmonary Division, Northwestern University, Chicago, IL, USA.
Laura SterniEudowood Division of Pediatric Respiratory Sciences, Johns Hopkins School of Medicine, Baltimore, MD, USA.
Peter A CistulliCharles Perkins Centre, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Enid R NeptuneDivision of Pulmonary and Critical Care Medicine, Johns Hopkins School of Medicine, Baltimore, MD, USA.
Johns Hopkins University · USNorthwestern University · USThe University of Sydney · AU

Funding

Multi-Institutional Training in Genetic/Genomic Approaches to Sleep DisordersT32HL110952 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI CHERVIN, RONALD D, MIGNOT, EMMANUEL J · 2013 to 2022
$5.0M
NHLBI NIH HHS T32 HL110952
6 · The paper itself

Abstract

backgroundA high prevalence of sleep disordered breathing (SDB) has been reported in persons with Marfan syndrome (MFS), a single gene disorder of connective tissue resulting in premature death from aortic rupture. The burden of SDB and accompanying hemodynamic stress could warrant broad screening in this population. Our goal was to assess the utility of traditional SDB screening tools in our sample of persons with MFS.

methodsParticipants were recruited during an annual Marfan Foundation meeting and Marfan status confirmed using the Ghent criteria. Screening questionnaires were administered and SDB assessed by home sleep testing. We assessed accuracy of screening tools using receiver-operating characteristic curve analyses.

resultsThe prevalence of moderate-severe SDB was 32% in our sample of 31 MFS participants. The Stop-Bang questionnaire had the highest positive predictive value (PPV) of 60% and the highest negative predictive value (NPV) of 100% using the high- and moderate-risk cut-offs, respectively, and the Berlin questionnaire had a PPV of 50% and an NPV of 92.3% at the high-risk cut-off. When those with mild SDB were included, the Stop-Bang and the Sleep Apnea Clinical Score (SACS) questionnaires demonstrated useful screening accuracies with PPVs of 94.7% and 92.9%, and NPVs of 63.6% and 47.1%, respectively, at the moderate-risk cut-offs.

conclusionA survey of SDB in a sample of persons with MFS reveals not only a high burden of SDB but also that conventional screening instruments have utility if adapted appropriately. Future studies should validate the utility of these screening tools given concerns that SDB may contribute to progression of aortic pathology in MFS.

Indexed as

AdultAgedFemaleHumansMaleMarfan SyndromeMiddle AgedSleep Apnea SyndromesSurveys and Questionnairesconnective tissue disorderscreening accuracySDBsurveys

Identifiers

PMID31707771
PMCPMC6978263
OpenAlexW2988741774

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.