Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability

Clayton-smith, Jill, Bromley, Rebecca, Dean, John, Journel, Hubert, Odent, Sylvie, Wood, Amanda, Williams, Janet, Cuthbert, Verna, Hackett, Latha, Aslam, Neelo, Malm, Heli, James, Gregory, Westbom, Lena, Day, Ruth, Ladusans, Edmund, Jackson, Adam, Bruce, Iain, Walker, Robert, Sidhu, Sangeet, Dyer, Catrina, Ashworth, Jane, Hindley, Daniel, Diaz, Gemma Arca, Rawson, Myfanwy and Turnpenny, Peter (2019). Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability. Orphanet Journal of Rare Diseases, 14 (1),

Abstract

Background A pattern of major and minor congenital anomalies, facial dysmorphic features, and neurodevelopmental difficulties, including cognitive and social impairments has been reported in some children exposed to sodium valproate (VPA) during pregnancy. Recognition of the increased risks of in utero exposure to VPA for congenital malformations, and for the neurodevelopmental effects in particular, has taken many years but these are now acknowledged following the publication of the outcomes of several prospective studies and registries. As with other teratogens, exposure to VPA can have variable effects, ranging from a characteristic pattern of major malformations and significant intellectual disability to the other end of the continuum, characterised by facial dysmorphism which is often difficult to discern and a more moderate effect on neurodevelopment and general health. It has become clear that some individuals with FVSD have complex needs requiring multidisciplinary care but information regarding management is currently lacking in the medical literature. Methods An expert group was convened by ERN-ITHACA, the European Reference Network for Congenital Malformations and Intellectual Disability comprised of professionals involved in the care of individuals with FVSD and with patient representation. Review of published and unpublished literature concerning management of FVSD was undertaken and the level of evidence from these sources graded. Management recommendations were made based on strength of evidence and consensus expert opinion, in the setting of an expert consensus meeting. These were then refined using an iterative process and wider consultation. Results Whilst there was strong evidence regarding the increase in risk for major congenital malformations and neurodevelopmental difficulties there was a lack of high level evidence in other areas and in particular in terms of optimal clinical management.. The expert consensus approach facilitated the formulation of management recommendations, based on literature evidence and best practice. The outcome of the review and group discussions leads us to propose the term Fetal Valproate Spectrum Disorder (FVSD) as we feel this better encompasses the broad range of effects seen following VPA exposure in utero. Conclusion The expert consensus approach can be used to define the best available clinical guidance for the diagnosis and management of rare disorders such as FVSD. FVSD can have medical, developmental and neuropsychological impacts with life-long consequences and affected individuals benefit from the input of a number of different health professionals.

Publication DOI: https://doi.org/10.1186/s13023-019-1064-y
Divisions: Life & Health Sciences > Psychology
Life & Health Sciences
Additional Information: © The Author(s). 2019 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
Uncontrolled Keywords: Antiepileptic drug,Expert consensus,Fetal valproate syndrome,Guideline,Management,Teratogen,Genetics(clinical),Pharmacology (medical)
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Related URLs: https://ojrd.bi ... 3023-019-1064-y (Publisher URL)
http://www.scop ... tnerID=8YFLogxK (Scopus URL)
Published Date: 2019-07-19
Authors: Clayton-smith, Jill
Bromley, Rebecca
Dean, John
Journel, Hubert
Odent, Sylvie
Wood, Amanda ( 0000-0002-1537-6858)
Williams, Janet
Cuthbert, Verna
Hackett, Latha
Aslam, Neelo
Malm, Heli
James, Gregory
Westbom, Lena
Day, Ruth
Ladusans, Edmund
Jackson, Adam
Bruce, Iain
Walker, Robert
Sidhu, Sangeet
Dyer, Catrina
Ashworth, Jane
Hindley, Daniel
Diaz, Gemma Arca
Rawson, Myfanwy
Turnpenny, Peter

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