International Expert Opinion on Standard of Care for Patients With Schinzel-Giedion Syndrome: A Modified Delphi Study.
Document Type
Article
Publication Date
6-2025
Identifier
DOI: 10.1002/ajmg.a.64015
Abstract
Schinzel-Giedion Syndrome (SGS) is an ultra-rare, multisystem, genetic developmental disorder caused by gain-of-function pathogenic variants in the SETBP1 gene. No standard of care (SoC) recommendations currently exist. To assess expert opinion on SoC for individuals with SGS using a modified Delphi method. A multidisciplinary panel of 21 experts from the USA and Europe was assembled. Experts responded to a two-round questionnaire, with a subgroup participating in a virtual workshop, through which recommendations pertaining to the diagnosis, monitoring, treatment, and management of SGS were iteratively developed. Consensus was defined as ≥ 70% of respondents demonstrating agreement/disagreement with 6-point Likert scale questions, or ≥ 70% of respondents selecting a given multiple-choice question option. Overall, 81/94 statements achieved consensus. Experts agreed that the recommendations should be considered applicable to any individual with confirmed SGS or an indicative phenotype and any SETBP1 gain-of-function mutation. Key considerations included early and sustained involvement of a multidisciplinary team, routine monitoring for common tumors, neurologic, renal, genitourinary, pulmonary, musculoskeletal and gastrointestinal manifestations/complications, and facilitation of shared decision-making processes. These recommendations should help guide clinicians and families/caregivers in care decisions to enhance quality and duration of life for individuals with SGS and facilitate shared decision-making.
Journal Title
American journal of medical genetics. Part A
Volume
197
Issue
6
First Page
64015
Last Page
64015
MeSH Keywords
Humans; Delphi Technique; Hand Deformities, Congenital; Intellectual Disability; Standard of Care; Abnormalities, Multiple; Craniofacial Abnormalities; Nails, Malformed; Limb Deformities, Congenital; Consensus; Autistic Disorder; Mutation; Carrier Proteins; Nuclear Proteins
PubMed ID
39967563
Keywords
Delphi technique; Schinzel‐Giedion syndrome; recommendations; standard of care
Recommended Citation
Duis J, Agresta L, Bennett WE Jr, et al. International Expert Opinion on Standard of Care for Patients With Schinzel-Giedion Syndrome: A Modified Delphi Study. Am J Med Genet A. 2025;197(6):e64015. doi:10.1002/ajmg.a.64015
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