Evidence map›Paper›PMID 42252710›Full record

ArticleAnnals of clinical and translational neurology2026

Electroencephalographic Normalization as a Biomarker of Clinical Recovery in Down Syndrome Regression Disorder.

Jonathan D Santoro, Mackenzie Silverman, Maeve C Lucas, Mariam M Yousuf, Samuel T Otey, Stella V Gray, Brittany Jordan, Madeline D Kahan, Latanya D Agurs, Michelle Van Hirtum Das and 5 more

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Article in Annals of clinical and translational neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

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5 · Who and what money

Authors and funding

15 authors.

Jonathan D SantoroDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.ORCID https://orcid.org/0000-0002-8350-8234
Mackenzie SilvermanDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Maeve C LucasDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Mariam M YousufDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.ORCID https://orcid.org/0000-0002-1201-1546
Samuel T OteyDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.ORCID https://orcid.org/0009-0000-2689-9841
Stella V GrayDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Brittany JordanDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Madeline D KahanDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Latanya D AgursDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Michelle Van Hirtum DasDepartment of Pediatrics, Cedars Sinai Hospital, Los Angeles, California, USA.
Deborah HolderDepartment of Pediatrics, Cedars Sinai Hospital, Los Angeles, California, USA.
Devin KingDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Eileen A QuinnDivision of Developmental and Behavioral Pediatrics, University of Toledo, Toledo, Ohio, USA.
Ryan KammeyerDepartment of Neurology, Anschutz Medical Campus, University of Colorado, Aurora, Colorado, USA.
Michael S RafiiDepartment of Neurology, Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.

Funding

Mechanistic investigation of therapies for Down Syndrome Regression DisorderR33HD109748 · NICHD · UNIVERSITY OF COLORADO DENVER · PI Joaquin M. Espinosa · 2024 to 2026
$3.8M
Mechanistic investigation of therapies for Down Syndrome Regression DisorderR61HD109748 · NICHD · UNIVERSITY OF COLORADO DENVER · PI ESPINOSA, JOAQUIN M., SANNAR, ELISE M · 2022 to 2023
$1.5M
Eunice Kennedy Shriver National Institute of Child Health and Human Development R33HD109748Eunice Kennedy Shriver National Institute of Child Health and Human Development R61HD109748NHLBI NIH HHS K23155898NICHD NIH HHS R33 HD109748NICHD NIH HHS R61 HD109748
6 · The paper itself

Abstract

objectiveDown syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease activity. We evaluated longitudinal changes in electroencephalography and examined whether normalization is associated with clinical improvement.

methodsWe conducted a retrospective longitudinal cohort study of individuals with Down syndrome regression disorder who underwent electroencephalography within 2 months of symptom onset and repeat studies at six and 12 months. Active epilepsy, antiseizure medication use, or seizures during follow-up were exclusionary. Changes in electroencephalography were assessed over time. Among participants with abnormal baseline electroencephalography, associations between treatment exposures, electroencephalography normalization, and changes in clinical severity were evaluated.

resultsAmong 589 eligible individuals, 181 met inclusion criteria and 69 (38.1%) had abnormal baseline electroencephalography. Abnormal electroencephalography prevalence decreased to 20.4% at 6 months and 16.6% at 12 months (both p < 0.001 versus baseline). Among participants with abnormal baseline electroencephalography, normalization occurred in 49.3% by 6 months and 56.5% by 12 months. Immunotherapy exposure during the first 6 months was associated with higher odds of normalization (p < 0.001, 95% CI: 20.0-676.1) and faster time to normalization (HR: 15.35, p < 0.001, 95% CI: 4.90-48.09). Normalization was associated with reduced disease severity (all p ≤ 0.01).

interpretationElectroencephalography abnormalities frequently improve over time in Down syndrome regression disorder. Normalization is associated with greater clinical recovery, supporting serial electroencephalography as a potential biomarker of neurophysiologic recovery in this condition.

Indexed as

biomarkerdown syndromeEEGimmunotherapy responseregression

Identifiers

PMID42252710
PMCPMC13394084

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LicenceCC BY-NC-ND
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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.