Evidence map›Paper›PMID 30980517›Full record

ArticleBrain and behavior2019

A clinical case-control comparison of epidermal innervation density in Rett syndrome.

Frank J Symons, Chantel C Barney, Breanne J Byiers, Brian D McAdams, Shawn X Y L Foster, Timothy J Feyma, Gwen Wendelschafer-Crabb, William R Kennedy

Abstract read
In one paragraph

Article in Brain and behavior, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
–field-weighted citation impact
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

7 citing papers in PubMed.

  1. Protective role of mirtazapine in adult female Mecp2Journal of neurodevelopmental disorders · 2020
    Trial
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  5. Review
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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

8 authors.

Frank J SymonsDepartment of Educational Psychology, Center for Neurobehavioral Development, University of Minnesota, Minneapolis, MN.
Chantel C BarneyGillette Children's Specialty Healthcare, Research Administration, St. Paul, MN.
Breanne J ByiersDepartment of Educational Psychology, Center for Neurobehavioral Development, University of Minnesota, Minneapolis, MN.ORCID 0000-0002-7645-1479
Brian D McAdamsDepartment of Neurology, Peripheral Nerve Laboratory, University of Minnesota, Minneapolis, MN.
Shawn X Y L FosterDepartment of Neurology, Peripheral Nerve Laboratory, University of Minnesota, Minneapolis, MN.
Timothy J FeymaDepartment of Pediatric Neurology, Gillette Children's Specialty Healthcare, St. Paul, MN.
Gwen Wendelschafer-CrabbDepartment of Neurology, Peripheral Nerve Laboratory, University of Minnesota, Minneapolis, MN.
William R KennedyDepartment of Neurology, Peripheral Nerve Laboratory, University of Minnesota, Minneapolis, MN.

Funding

Sensory Mechanisms and Self-InjuryR01HD044763 · NICHD · UNIVERSITY OF MINNESOTA TWIN CITIES · PI FRANK J SYMONS · 2004 to 2026
$7.2M
NICHD NIH HHS R01 HD044763
6 · The paper itself

Abstract

introductionRett syndrome (RTT), a rare neurodevelopmental disorder occurring primarily in females (1:10-15,000 female live births), is most often caused by loss-of-function mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2). Clinical observations and preclinical findings indicate apparent abnormal sensory and nociceptive function. There have been no direct investigations of epidermal sensory innervation in patients with RTT.

methodsWe compared 3 mm epidermal punch biopsy specimens from adolescent female RTT patients (N = 4, aged 12-19 years) against an archived approximate age-, sex-, body-site matched comparison sample of healthy adolescent females (N = 8, ages 11-17).

resultsConfocal imaging revealed, on average, statistically significant increased epidermal nerve fiber (ENF) peptidergic (co-stained calcitonin gene-related protein [CGRP]) innervation density compared with healthy female control individuals.

conclusionsGiven the clinical phenotype of disrupted sensory function along with diagnostic criteria specific to cold hands/feet and insensitivity to pain, our preliminary observations of ENF peptidergic fiber density differences warrants further investigation of the peripheral neurobiology in RTT.

Indexed as

Peripheral Nervous SystemRett SyndromeSensory Receptor CellsSkinAdolescentBiopsyCalcitonin Gene-Related PeptideChildFemaleHumansMethyl-CpG-Binding Protein 2Microscopy, ConfocalNociceptionPhenotypeYoung AdultCalcitonin Gene-Related PeptideMECP2 protein, humanMethyl-CpG-Binding Protein 2epidermal nerve fiber innervationMECP2Rett syndromesensory phenotype

Identifiers

PMID30980517
PMCPMC6520294

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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.