Evidence map›Paper›PMID 32714615›Full record

ReviewJournal of pediatric genetics2020

Identification and Recent Approaches for Evaluation and Management of Rehabilitation Concerns for Patients with Freeman-Burian Syndrome: Principles for Global Treatment.

Mikaela I Poling, Craig R Dufresne, Rodger J McCormick

Registry-linked trialOpen access · greenAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Journal of pediatric genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05419245 (Findings, Diagnostic Accuracy, Treatment, and Outcomes in Freeman-Burian Syndrome and Similar-appearing Arthrogryposis Syndromes), which is not on this map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
1.4field-weighted citation impact, top 19% 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.

NCT05419245 unknown statusnot on this mapstarted 2022, after this paper: background citation

Findings, Diagnostic Accuracy, Treatment, and Outcomes in Freeman-Burian Syndrome and Similar-appearing Arthrogryposis Syndromes: a Cross-sectional, Non-randomized Study

TypeobservationalSponsorDufresne, Craig, MD, PCRan2022 to 2023Enrolled20ConditionsFreeman-Burian Syndrome, Freeman-Sheldon Syndrome, Whistling Face Syndrome, Sheldon-Hall SyndromeArmsGuided Health History for Freeman-Burian Syndrome Questionnaire, Freeman-Burian syndrome Semi-Structured Quality of Life Interview, Medical Records Review, PTSD Checklist for DSM-5, Modified Flanagan Quality of Life Scale
3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 12 citations in OpenAlex.

  1. 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

3 authors at 1 institution in 1 country.

Mikaela I PolingPrivate Practice, Fairfax, Virginia, United States.ORCID 0000-0003-3134-1580
Craig R DufresnePrivate Practice, Fairfax, Virginia, United States.ORCID 0000-0001-6051-348X
Rodger J McCormickDepartment of Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, West Virginia, United States.ORCID 0000-0003-1701-4671
Georgetown University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Freeman-Burian syndrome, formerly Freeman-Sheldon syndrome, is a rare congenital complex myopathic craniofacial syndrome that frequently involves extremity joint deformities, abnormal spinal curvatures, and chest wall mechanical problems that, together with spinal deformities, impair pulmonary function. As part of a clinical practice guideline development, we evaluated 19 rehabilitation-related articles from our formal systematic review, and from these and our experience, we describe rehabilitation considerations. Research in this area has widespread methodologic problems. While many challenges are present, much can be done to afford these patients a good quality of life through careful planning.

Indexed as

craniofacial deformitiesdistal arthrogryposisFreeman–Burian syndromeFreeman–Sheldon syndromelimb deformitiestalipes equinovaruswhistling face syndrome

Identifiers

PMID32714615
PMCPMC7375843
OpenAlexW3023022580

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

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.