Evidence map›Paper›PMID 26507407›Full record

ArticleJournal of tropical pediatrics2016

Cytogenetic Studies of Rwandan Pediatric Patients Presenting with Global Developmental Delay, Intellectual Disability and/or Multiple Congenital Anomalies.

Annette Uwineza, Janvier Hitayezu, Mauricette Jamar, Jean-Hubert Caberg, Seraphine Murorunkwere, Ndinkabandi Janvier, Vincent Bours, Leon Mutesa

Open access · bronzeAbstract read
In one paragraph

Article in Journal of tropical pediatrics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
0.2field-weighted citation impact, top 33% 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

8 citing papers in PubMed, 1 synthesis or guideline pooled it, 8 citations in OpenAlex.

  1. Pooled it
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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 at 3 institutions in 2 countries.

Annette UwinezaCenter for Medical Genetics, College of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda Center for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liege, Liege, Belgium.
Janvier HitayezuCenter for Medical Genetics, College of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda.
Mauricette JamarCenter for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liege, Liege, Belgium.
Jean-Hubert CabergCenter for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liege, Liege, Belgium.
Seraphine MurorunkwereCenter for Medical Genetics, College of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda.
Ndinkabandi JanvierCenter for Medical Genetics, College of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda.
Vincent BoursCenter for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liege, Liege, Belgium.
Leon MutesaCenter for Medical Genetics, College of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda L.MUTESA@ur.ac.rw lmutesa@gmail.com.
University of Rwanda · RWCentre Hospitalier Universitaire de Liège · BEUniversity of Liège · BE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Global developmental delay (GDD) is defined as a significant delay in two or more developmental domains: gross or fine motor, speech/language, cognitive, social/personal and activities of daily living. Many of these children will go on to be diagnosed with intellectual disability (ID), which is most commonly defined as having an IQ <75 in addition to impairment in adaptive functioning. Cytogenetic studies have been performed in 664 Rwandan pediatric patients presenting GDD/ID and/or multiple congenital abnormalities (MCA). Karyotype analysis was performed in all patients and revealed 260 chromosomal abnormalities. The most frequent chromosomal abnormality was Down syndrome and then Edward syndrome and Patau syndrome. Other identified chromosomal abnormalities included 47,XX,+del(9)(q11), 46,XY,del(13)(q34) and 46,XX,der(22)t(10;22)(p10;p10)mat. In conclusion, our results highlight the high frequency of cytogenetically detectable abnormalities in this series, with implications for the burden on the healthcare. This study demonstrates the importance of cytogenetic analysis in patients with GDD/ID and MCA.

Indexed as

Chromosome AberrationsAbnormalities, MultipleActivities of Daily LivingAdolescentChildChild, PreschoolChromosome DisordersChromosomes, Human, Pair 13Chromosomes, Human, Pair 18Cytogenetic AnalysisDevelopmental DisabilitiesDown SyndromeFemaleHumansIntellectual DisabilityKaryotypingchromosomal abnormalityglobal developmental delayintellectual disabilitykaryotypemultiple congenital anomaliesRwandan pediatric patients

Identifiers

PMID26507407
PMCPMC4935782
OpenAlexW1867465966

What OpenQuestion holds

Textmetadata
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.