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Adult experiences in Beckwith-Wiedemann syndrome

William A Drust1, Alessandro Mussa2,3, Andrea Gazzin3

  • 1Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|May 10, 2023
PubMed

Insights

Beckwith-Wiedemann syndrome (BWS) affects adults, with limited research on their needs. This study surveyed adult BWS patients, highlighting common clinical features and medical issues, and validating patient-reported data.

Area of Science:

  • Genetics
  • Endocrinology
  • Developmental Biology

Background:

  • Beckwith-Wiedemann syndrome (BWS) is a complex genetic overgrowth disorder.
  • BWS is linked to epigenetic changes on chromosome 11p15.
  • Key childhood BWS features include macroglossia, omphalocele, lateralized overgrowth, hyperinsulinism, and embryonal tumors.

Purpose of the Study:

  • To describe the clinical features and medical needs of adult patients with Beckwith-Wiedemann syndrome.
  • To assess the psychosocial implications of BWS in adults.
  • To evaluate the reliability of patient-reported data in BWS research.

Main Methods:

  • Descriptive summary of data from two independent adult BWS cohorts.
  • A patient-based survey cohort with self-reported health information.
  • A medical record-based assessment from an overgrowth registry.

Main Results:

  • Identified common clinical features and medical issues in adult BWS populations.
  • Highlighted similarities across two large, independent adult BWS cohorts.
  • Revealed themes from open-ended survey questions for future qualitative research.

Conclusions:

  • Adults with BWS experience distinct clinical challenges and medical issues.
  • Patient-reported data is reliable for assessing BWS in adults.
  • International collaboration is valuable for BWS research.

Keywords:
Beckwith-Wiedemann syndromeadultsquality of life

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