Evidence map›Paper›PMID 32600431›Full record

ArticleItalian journal of pediatrics2020

A child with a novel DDX3X variant mimicking cerebral palsy: a case report.

Liqin Hu, Xiaoqin Xin, Shaobin Lin, Min Luo, Junkun Chen, Hongsheng Qiu, Li Ma, Jungao Huang

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

Article in Italian journal of pediatrics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.7field-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

2 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. 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

8 authors at 3 institutions in 1 country.

Liqin HuDepartment of Gynaecology and Obstetrics, Ganzhou Maternal and Child Health Hospital, Ganzhou, 341000, Jiangxi Province, China.
Xiaoqin XinDepartment of Clinical Laboratory, Ganzhou People's Hospital, Ganzhou, 341000, Jiangxi Province, China.
Shaobin LinFetal Medicine Centre, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, 510080, Guangdong Province, China.
Min LuoDepartment of Pediatric Neurorehabilitation, Ganzhou Maternal and Child Health Hospital, Ganzhou, 341000, Jiangxi Province, China.
Junkun ChenDepartment of Medical Genetics, Ganzhou Maternal and Child Health Hospital, Ganzhou, 341000, Jiangxi Province, China.
Hongsheng QiuNeonatology Department, Ganzhou Maternal and Child Health Hospital, Ganzhou, 341000, Jiangxi Province, China.
Li MaDepartment of Gynaecology and Obstetrics, Ganzhou Maternal and Child Health Hospital, Ganzhou, 341000, Jiangxi Province, China.
Jungao HuangDepartment of Medical Genetics, Ganzhou Maternal and Child Health Hospital, Ganzhou, 341000, Jiangxi Province, China. jungaohuang@sina.com.ORCID http://orcid.org/0000-0002-3197-6044
Gansu Provincial Maternal and Child Health Hospital · CNGanzhou People's Hospital · CNSun Yat-sen University · CN

Funding

The Research Project of Health Department of Jiangxi Province 20174057
6 · The paper itself

Abstract

backgroundCerebral palsy (CP) is a non-progressive disorder of movement and posture due to a static insult to the brain. In CP, the depth of investigation is guided by the patients' medical history and their clinical examination. Magnetic resonance imaging (MRI) has a high yield and is widely used for investigation in CP. CASE PRESENTATION: In this paper, we report a novel DDX3X variant in a girl afflicted with the X-linked mental retardation-102 (MRX102). The girl had been misdiagnosed with CP in her early life based on a comprehensive clinical evaluation and associated clinical features, such as developmental delay, reduced activities of the arms and legs, and abnormal brain MRI. Subsequently, whole-exome sequencing was applied to better distinguish between CP and actual MRX102 with similar characteristics.

conclusionsWe report on a de novo heterozygous DDX3X variant mimicking cerebral palsy and suggest a thorough and conscientious review during diagnosis of CP.

Indexed as

Cerebral PalsyChild, PreschoolChinaDEAD-box RNA HelicasesDiagnosis, DifferentialFemaleHumansX-Linked Intellectual DisabilityDDX3X protein, humanDEAD-box RNA HelicasesCerebral palsyDiagnosticsMRX102Whole-exome sequencing

Identifiers

PMID32600431
PMCPMC7325255
OpenAlexW3040112145

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.