Evidence map›Paper›PMID 39976758›Full record

SynthesisJournal of autism and developmental disorders2026

The Diagnostic Yield of Investigating Developmental Regression in Children: A Systematic Review and Meta-Analysis.

Kirsten Furley, Audrey Teo, Katrina Williams, Mohammed Alshawsh, Amanda Brignell

Abstract readSystematic ReviewMeta-Analysis
In one paragraph

Synthesis in Journal of autism and developmental disorders, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

5 authors.

Kirsten FurleyDepartment of Paediatrics, Monash University, Melbourne, VIC, Australia. Kirsten.Furley1@monash.edu.ORCID http://orcid.org/0000-0001-6016-2157
Audrey TeoDepartment of Paediatrics, Monash University, Melbourne, VIC, Australia.
Katrina WilliamsDepartment of Paediatrics, Monash University, Melbourne, VIC, Australia.
Mohammed Alshawsh *Department of Paediatrics, Monash University, Melbourne, VIC, Australia.
Amanda Brignell *Department of Paediatrics, Monash University, Melbourne, VIC, Australia.

Funding

Faculty of Medicine, Nursing and Health Sciences, Monash University Scholarship stipend
6 · The paper itself

Abstract

This systematic review evaluates the diagnostic yield of investigations requested for children with developmental regression. Online databases MEDLINE, EMBASE, CINAHL, PsycINFO, Cochrane were searched to identify published records that reported a diagnostic yield for children with developmental regression. Random effects meta-analyses were performed using R software with meta package. Our search identified 11,283 published records, of which 347 were assessed for eligibility, and 15 (596 children) were included in the final systematic review and meta-analysis. Subgroup analysis assessed the diagnostic yield for investigating children with different presentations and developmental regression. Diagnostic yield results were 68% for children with neurological symptoms (two records, six children, 95%CI 32-100) and children with epileptic symptoms (two records, 56 children, 95%CI 15-100); 40% for children with neurodevelopmental delay (six records, 294 children, 95%CI 3-78); 9% for autistic children (three records, 138 children, 95%CI 0-26). Pooled analysis could not be completed for metabolic (one record, 29 children) or genetic presentations (one record, 73 children). The diagnostic yield for genetic/genomic investigations (six records, 142 children, 95%CI, 47-92) was 70%, compared with 28% for metabolic (five records, 286 children, 95%CI 0-64), 13% for neurophysiological (two records, 127 children, 95%CI 0-39) and 6% for neuroimaging (two records, 41 children, 95%CI 0-20). Investigations for children with developmental regression and neurological or epileptic symptoms resulted in the highest diagnostic yield. These results are clinically meaningful and will inform future research to advance towards an agreed investigative approach yet lack statistical significance due to small samples.

Indexed as

Developmental DisabilitiesChildEpilepsyHumansChildrenDevelopmental regressionDiagnostic yieldGenomicInvestigationsMetabolicNeuroimagingNeurophysiologyNext generation genetic testingPrevalence of positive finding

Identifiers

PMID39976758
PMCPMC13346241

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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.