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

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Title: The Diagnostic Yield of Investigating Developmental Regression in Children: A Systematic Review and Meta-Analysis.
Authors: Furley, Kirsten (AUTHOR), Teo, Audrey (AUTHOR), Williams, Katrina (AUTHOR), Alshawsh, Mohammed (AUTHOR), Brignell, Amanda (AUTHOR)
Source: Journal of Autism & Developmental Disorders. Jul2026, Vol. 56 Issue 7, p2721-2734. 14p.
Subjects: Medical information storage & retrieval systems, Child psychopathology, Research funding, Genomics, Children with disabilities, CINAHL database, Neurophysiology, Meta-analysis, Descriptive statistics, Systematic reviews, MEDLINE, Routine diagnostic tests, Developmental disabilities, Child development, Medical databases, Confidence intervals, Neuroradiology, Genetic testing, Psychology information storage & retrieval systems
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. [ABSTRACT FROM AUTHOR]
Copyright of Journal of Autism & Developmental Disorders is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: The Diagnostic Yield of Investigating Developmental Regression in Children: A Systematic Review and Meta-Analysis.
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  Data: <searchLink fieldCode="AR" term="%22Furley%2C+Kirsten%22">Furley, Kirsten</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Teo%2C+Audrey%22">Teo, Audrey</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Williams%2C+Katrina%22">Williams, Katrina</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Alshawsh%2C+Mohammed%22">Alshawsh, Mohammed</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Brignell%2C+Amanda%22">Brignell, Amanda</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22Journal+of+Autism+%26+Developmental+Disorders%22">Journal of Autism & Developmental Disorders</searchLink>. Jul2026, Vol. 56 Issue 7, p2721-2734. 14p.
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  Data: <searchLink fieldCode="DE" term="%22Medical+information+storage+%26+retrieval+systems%22">Medical information storage & retrieval systems</searchLink><br /><searchLink fieldCode="DE" term="%22Child+psychopathology%22">Child psychopathology</searchLink><br /><searchLink fieldCode="DE" term="%22Research+funding%22">Research funding</searchLink><br /><searchLink fieldCode="DE" term="%22Genomics%22">Genomics</searchLink><br /><searchLink fieldCode="DE" term="%22Children+with+disabilities%22">Children with disabilities</searchLink><br /><searchLink fieldCode="DE" term="%22CINAHL+database%22">CINAHL database</searchLink><br /><searchLink fieldCode="DE" term="%22Neurophysiology%22">Neurophysiology</searchLink><br /><searchLink fieldCode="DE" term="%22Meta-analysis%22">Meta-analysis</searchLink><br /><searchLink fieldCode="DE" term="%22Descriptive+statistics%22">Descriptive statistics</searchLink><br /><searchLink fieldCode="DE" term="%22Systematic+reviews%22">Systematic reviews</searchLink><br /><searchLink fieldCode="DE" term="%22MEDLINE%22">MEDLINE</searchLink><br /><searchLink fieldCode="DE" term="%22Routine+diagnostic+tests%22">Routine diagnostic tests</searchLink><br /><searchLink fieldCode="DE" term="%22Developmental+disabilities%22">Developmental disabilities</searchLink><br /><searchLink fieldCode="DE" term="%22Child+development%22">Child development</searchLink><br /><searchLink fieldCode="DE" term="%22Medical+databases%22">Medical databases</searchLink><br /><searchLink fieldCode="DE" term="%22Confidence+intervals%22">Confidence intervals</searchLink><br /><searchLink fieldCode="DE" term="%22Neuroradiology%22">Neuroradiology</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+testing%22">Genetic testing</searchLink><br /><searchLink fieldCode="DE" term="%22Psychology+information+storage+%26+retrieval+systems%22">Psychology information storage & retrieval systems</searchLink>
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  Data: 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. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Journal of Autism & Developmental Disorders is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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        Value: 10.1007/s10803-025-06749-4
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      – Code: eng
        Text: English
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        PageCount: 14
        StartPage: 2721
    Subjects:
      – SubjectFull: Medical information storage & retrieval systems
        Type: general
      – SubjectFull: Child psychopathology
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      – SubjectFull: Research funding
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              Text: Jul2026
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