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Quantitative Natural History Modeling of Dup15q Syndrome.

Bibliographic Details
Title: Quantitative Natural History Modeling of Dup15q Syndrome.
Authors: Zawadski, L.1 (AUTHOR), Burkart, S.2 (AUTHOR), Hempel, M.2 (AUTHOR), Syrbe, S.1 (AUTHOR), Driedger, J. H.1 (AUTHOR)
Source: Neuropediatrics. 2026 Supplement 1, Vol. 57, pS1-S24. 24p.
Subject Terms: *DNA copy number variations, *Developmental delay, *Disease progression, *Phenotypes, *Seizures (Medicine), *Neural development, *Epilepsy
Abstract: This article focuses on the clinical characterization and natural history of Dup15q syndrome, a rare neurodevelopmental disorder caused by copy-number gains in the 15q11–13 chromosomal region. Using quantitative retrospective natural history modeling (QUARNAM) of data from 306 individuals, the study reports an overall survival rate of 88.7%, with a median age at disease onset of 5.5 months and a median diagnostic delay of 156 months. Key clinical features include seizures in 48.2% of patients—75% of whom develop refractory epilepsy—global developmental delay in 95.4%, autistic features in 89%, and muscular hypotonia in 60%. The findings aim to refine the clinical spectrum of Dup15q syndrome and establish endpoints for future research. [Extracted from the article]
Database: Academic Search Index
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DbLabel: Academic Search Index
An: 193290735
RelevancyScore: 1411
AccessLevel: 6
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 1411.07470703125
IllustrationInfo
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  Data: Quantitative Natural History Modeling of Dup15q Syndrome.
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  Data: <searchLink fieldCode="AR" term="%22Zawadski%2C+L%2E%22">Zawadski, L.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Burkart%2C+S%2E%22">Burkart, S.</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Hempel%2C+M%2E%22">Hempel, M.</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Syrbe%2C+S%2E%22">Syrbe, S.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Driedger%2C+J%2E+H%2E%22">Driedger, J. H.</searchLink><relatesTo>1</relatesTo> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22Neuropediatrics%22">Neuropediatrics</searchLink>. 2026 Supplement 1, Vol. 57, pS1-S24. 24p.
– Name: Subject
  Label: Subject Terms
  Group: Su
  Data: *<searchLink fieldCode="DE" term="%22DNA+copy+number+variations%22">DNA copy number variations</searchLink><br />*<searchLink fieldCode="DE" term="%22Developmental+delay%22">Developmental delay</searchLink><br />*<searchLink fieldCode="DE" term="%22Disease+progression%22">Disease progression</searchLink><br />*<searchLink fieldCode="DE" term="%22Phenotypes%22">Phenotypes</searchLink><br />*<searchLink fieldCode="DE" term="%22Seizures+%28Medicine%29%22">Seizures (Medicine)</searchLink><br />*<searchLink fieldCode="DE" term="%22Neural+development%22">Neural development</searchLink><br />*<searchLink fieldCode="DE" term="%22Epilepsy%22">Epilepsy</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: This article focuses on the clinical characterization and natural history of Dup15q syndrome, a rare neurodevelopmental disorder caused by copy-number gains in the 15q11–13 chromosomal region. Using quantitative retrospective natural history modeling (QUARNAM) of data from 306 individuals, the study reports an overall survival rate of 88.7%, with a median age at disease onset of 5.5 months and a median diagnostic delay of 156 months. Key clinical features include seizures in 48.2% of patients—75% of whom develop refractory epilepsy—global developmental delay in 95.4%, autistic features in 89%, and muscular hypotonia in 60%. The findings aim to refine the clinical spectrum of Dup15q syndrome and establish endpoints for future research. [Extracted from the article]
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asx&AN=193290735
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1055/s-0046-1822892
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 24
        StartPage: S1
    Subjects:
      – SubjectFull: DNA copy number variations
        Type: general
      – SubjectFull: Developmental delay
        Type: general
      – SubjectFull: Disease progression
        Type: general
      – SubjectFull: Phenotypes
        Type: general
      – SubjectFull: Seizures (Medicine)
        Type: general
      – SubjectFull: Neural development
        Type: general
      – SubjectFull: Epilepsy
        Type: general
    Titles:
      – TitleFull: Quantitative Natural History Modeling of Dup15q Syndrome.
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            NameFull: Zawadski, L.
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            NameFull: Burkart, S.
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            NameFull: Hempel, M.
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            NameFull: Syrbe, S.
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            NameFull: Driedger, J. H.
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          Dates:
            – D: 02
              M: 04
              Text: 2026 Supplement 1
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-print
              Value: 0174304X
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              Value: 57
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            – TitleFull: Neuropediatrics
              Type: main
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