Behavioral profiles and social relationships in Wiedemann–Steiner syndrome: parent reports on 25 cases

These data direct from parent experience reveal novel commonalities in behavior and relationships in this group. Findings should inform clinical assessment and diagnosis, new research questions and choice of patient-focused outcome measures for clinical interventions. The findings also contribute to improved practice in providing care and support for people with WSS and their families and to guidelines for more tailored education and improved healthcare.

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Publication Details

Journal
Orphanet Journal of Rare Diseases
Published
2025-04-02
DOI
https://doi.org/10.1186/s13023-025-03643-1
Primary Topic
Genetics and Neurodevelopmental Disorders
Type
article
Field-Weighted Citation Impact
0.00
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article

Behavioral profiles and social relationships in Wiedemann–Steiner syndrome: parent reports on 25 cases

Jane Waite, Wendy D. Jones, Camilla Elphick, Nicola Yuill et al.
Orphanet Journal of Rare Diseases
Genetics and Neurodevelopmental Disorders
article

Behavioral profiles and social relationships in Wiedemann–Steiner syndrome: parent reports on 25 cases

Jane Waite, Wendy D. Jones, Camilla Elphick, Nicola Yuill, J Marshall, Hannah Viner
article en

Abstract

These data direct from parent experience reveal novel commonalities in behavior and relationships in this group. Findings should inform clinical assessment and diagnosis, new research questions and choice of patient-focused outcome measures for clinical interventions. The findings also contribute to improved practice in providing care and support for people with WSS and their families and to guidelines for more tailored education and improved healthcare.

Orphanet Journal of Rare DiseasesVol. 20(1)
University of Sussex (GB), Aston University (GB), The Open University (GB), Great Ormond Street Hospital (GB), University College London (GB)
No poverty
Openalex Percentile: Top 92%
Genetics and Neurodevelopmental Disorders
DOIOpen Access PDFOpenAlex
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Behavioral profiles and social relationships in Wiedemann–Steiner syndrome: parent reports on 25 cases — Jane Waite, Wendy D. Jones, et al. · Orphanet Journal of Rare Diseases (2025) | TGRS Research Map | TGRS