Evidence map›Paper›PMID 36979972›Full record

ReviewChildren (Basel, Switzerland)2023

Evaluation of Individuals with Non-Syndromic Global Developmental Delay and Intellectual Disability.

Rowim AlMutiri, Maisa Malta, Michael I Shevell, Myriam Srour

Open access · goldFull text readReview
In one paragraph

Review in Children (Basel, Switzerland), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 1 pooled it
4.4field-weighted citation impact, top 5% 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

15 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Review
  6. Identification of Novel Co-OccurringThe application of clinical genetics · 2026
    Article
  7. Review
  8. Article
  9. Review
  10. Article
  11. Article
  12. Observational
  13. Article
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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

4 authors at 3 institutions in 3 countries.

Rowim AlMutiriDivision of Pediatric Neurology, Department of Pediatrics, McGill University, Montreal, QC H4A 3J1, Canada.
Maisa MaltaDivision of Pediatric Neurology, Department of Pediatrics, McGill University, Montreal, QC H4A 3J1, Canada.
Michael I ShevellDivision of Pediatric Neurology, Department of Pediatrics, McGill University, Montreal, QC H4A 3J1, Canada.
Myriam SrourDivision of Pediatric Neurology, Department of Pediatrics, McGill University, Montreal, QC H4A 3J1, Canada.
McGill University · CAMcGill University Health Centre · CAUniversidade Federal de São Paulo · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Global Developmental Delay (GDD) and Intellectual Disability (ID) are two of the most common presentations encountered by physicians taking care of children. GDD/ID is classified into non-syndromic GDD/ID, where GDD/ID is the sole evident clinical feature, or syndromic GDD/ID, where there are additional clinical features or co-morbidities present. Careful evaluation of children with GDD and ID, starting with detailed history followed by a thorough examination, remain the cornerstone for etiologic diagnosis. However, when initial history and examination fail to identify a probable underlying etiology, further genetic testing is warranted. In recent years, genetic testing has been shown to be the single most important diagnostic modality for clinicians evaluating children with non-syndromic GDD/ID. In this review, we discuss different genetic testing currently available, review common underlying copy-number variants and molecular pathways, explore the recent evidence and recommendations for genetic evaluation and discuss an approach to the diagnosis and management of children with non-syndromic GDD and ID.

Indexed as

clinical evaluationgenetic testingglobal developmental delayintellectual disabilitynon-syndromic intellectual disability

Identifiers

PMID36979972
PMCPMC10047567
OpenAlexW4321500383

What OpenQuestion holds

Textfull text, public
LicenceCC BY
measurements read39
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.