Literature DB >> 28371210

The proceedings of the 15th professional conference on Williams Syndrome.

Jennifer R Walton1, Marilee A Martens2, Barbara R Pober3.   

Abstract

Williams Syndrome (WS) is a contiguous gene deletion disorder, caused by the deletion of approximately 26-28 genes from chromosome 7 (7q11.23). Individuals with WS have complex medical, developmental, and behavioral features, requiring multidisciplinary and interdisciplinary collaboration. Guidelines detailing the identification, evaluation, and monitoring of individuals with WS need clarification, especially for primary care providers who are first-line in their management. This report summarizes the proceedings of the 2016 Professional Conference on WS in Columbus, OH. Presentations were directed towards primary care providers and subspecialists, emphasizing evidence-based practices for treating the prevalent medical and behavioral features of WS. Included in this report are findings from a panel of cardiovascular experts discussing three case studies on treatment of hypertension and the use of sedation or anesthesia for non-cardiac procedures. Abstracts from individual expert presenters are included, covering various medical and behavioral topics, and providing updates in management of WS individuals. The following topics were discussed: differences in phenotypes of 7q11.23 deletion versus duplication, growth parameters, endocrine concerns, sleep difficulties, behaviors to monitor, and pharmacological options, the neurodevelopmental profile of WS individuals, and the importance of monitoring medical and behavioral concerns as WS individuals transition to adulthood.
© 2017 Wiley Periodicals, Inc.

Entities:  

Keywords:  Sleep; Williams syndrome; cardiovascular; endocrine; growth parameters; neurodevelopmental; psychopharmacology

Mesh:

Year:  2017        PMID: 28371210     DOI: 10.1002/ajmg.a.38156

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  4 in total

1.  Adolescent adaptive behavior profiles in Williams-Beuren syndrome, Down syndrome, and autism spectrum disorder.

Authors:  Carolina Grego Del Cole; Sheila Cavalcante Caetano; Wagner Ribeiro; Arthur Melo E E Kümmer; Andrea Parolin Jackowski
Journal:  Child Adolesc Psychiatry Ment Health       Date:  2017-07-24       Impact factor: 3.033

2.  A transcriptomic study of Williams-Beuren syndrome associated genes in mouse embryonic stem cells.

Authors:  Rossella De Cegli; Simona Iacobacci; Anthony Fedele; Andrea Ballabio; Diego di Bernardo
Journal:  Sci Data       Date:  2019-11-06       Impact factor: 6.444

Review 3.  Oxidative Stress in Down and Williams-Beuren Syndromes: An Overview.

Authors:  Marta Ferrari; Stefano Stagi
Journal:  Molecules       Date:  2021-05-24       Impact factor: 4.411

Review 4.  Williams syndrome.

Authors:  Beth A Kozel; Boaz Barak; Chong Ae Kim; Carolyn B Mervis; Lucy R Osborne; Melanie Porter; Barbara R Pober
Journal:  Nat Rev Dis Primers       Date:  2021-06-17       Impact factor: 65.038

  4 in total

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