Evidence map›Paper›PMID 29600276›Full record

ArticleNeurology. Genetics2018

Diagnostic odyssey of patients with mitochondrial disease: Results of a survey.

Johnston Grier, Michio Hirano, Amel Karaa, Emma Shepard, John L P Thompson

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

Article in Neurology. Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
61citing papers in PubMed, 1 pooled it
6.9field-weighted citation impact, top 2% 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

61 citing papers in PubMed, 1 synthesis or guideline pooled it, 120 citations in OpenAlex.

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1 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

5 authors at 1 institution in 1 country.

Johnston GrierMailman School of Public Health (J.G., E.S., J.L.P.T.) and College of Physicians and Surgeons (M.H.), Columbia University Medical Center, New York, NY. J. Grier is now with DOCS GLOBAL, Raleigh, NC; and Massachussetts General Hospital (A.K.), Harvard University, Boston.
Michio HiranoMailman School of Public Health (J.G., E.S., J.L.P.T.) and College of Physicians and Surgeons (M.H.), Columbia University Medical Center, New York, NY. J. Grier is now with DOCS GLOBAL, Raleigh, NC; and Massachussetts General Hospital (A.K.), Harvard University, Boston.
Amel KaraaMailman School of Public Health (J.G., E.S., J.L.P.T.) and College of Physicians and Surgeons (M.H.), Columbia University Medical Center, New York, NY. J. Grier is now with DOCS GLOBAL, Raleigh, NC; and Massachussetts General Hospital (A.K.), Harvard University, Boston.
Emma ShepardMailman School of Public Health (J.G., E.S., J.L.P.T.) and College of Physicians and Surgeons (M.H.), Columbia University Medical Center, New York, NY. J. Grier is now with DOCS GLOBAL, Raleigh, NC; and Massachussetts General Hospital (A.K.), Harvard University, Boston.
John L P ThompsonMailman School of Public Health (J.G., E.S., J.L.P.T.) and College of Physicians and Surgeons (M.H.), Columbia University Medical Center, New York, NY. J. Grier is now with DOCS GLOBAL, Raleigh, NC; and Massachussetts General Hospital (A.K.), Harvard University, Boston.
Massachusetts General Hospital · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo document the complex "diagnostic odyssey" of patients with mitochondrial disease.

methodsWe analyzed data from 210 Rare Diseases Clinical Research Network Contact Registry participants who were patients with a biochemical deficiency or self-reported diagnosis of mitochondrial disease, or their caregivers.

resultsParticipants saw an average of 8.19 clinicians (SD 8.0, median 5). The first clinician consulted about symptoms was typically a primary care physician (56.7%), although 35.2% of participants initially sought a specialist. Of note, 55.2% of participants received their diagnosis from a neurologist, 18.2% from a clinical geneticist, and 11.8% from a metabolic disease specialist. A majority of the participants (54.6%) received 1 or more nonmitochondrial diagnoses before their final mitochondrial diagnosis. In their pursuit of a diagnosis, 84.8% of participants received blood tests, 71% a muscle biopsy, 60.5% MRI, and 38.6% urine organic acids. In addition, 39.5% of the participants underwent mitochondrial DNA sequencing, 19% sequencing of nuclear gene(s), and 11.4% whole-exome sequencing.

conclusionsThe diagnostic odyssey of patients with mitochondrial disease is complex and burdensome. It features multiple consultations and tests, and, often, conflicting diagnoses. These reflect disease variety, diagnostic uncertainty, and clinician unfamiliarity. The current survey provides an important benchmark. Its replication at appropriate intervals will assist in tracking changes that may accompany increased popularity of exome testing, more rigorous diagnostic criteria, increased patient reported outcome activity, and trials for promising therapies.

Identifiers

PMID29600276
PMCPMC5873725
OpenAlexW2790024787

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.