Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; A consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability
(2019) In 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... (More)
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 Review of published and unpublished literature concerning management of FVSD was undertaken and the level of evidence from these sources graded.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.
(Less)
- author
- organization
- publishing date
- 2019-07-19
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Antiepileptic drug, Expert consensus, Fetal valproate syndrome, Guideline, Management, Teratogen
- in
- Orphanet Journal of Rare Diseases
- volume
- 14
- issue
- 1
- article number
- 180
- publisher
- BioMed Central (BMC)
- external identifiers
-
- scopus:85069499172
- pmid:31324220
- ISSN
- 1750-1172
- DOI
- 10.1186/s13023-019-1064-y
- language
- English
- LU publication?
- yes
- id
- f7e65790-be18-4df3-9123-b5f161c695a3
- date added to LUP
- 2019-08-05 14:37:47
- date last changed
- 2024-06-11 22:47:24
@article{f7e65790-be18-4df3-9123-b5f161c695a3,
abstract = {{<p>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.</p>}},
author = {{Clayton-Smith, Jill and Bromley, Rebecca and Dean, John and Journel, Hubert and Odent, Sylvie and Wood, Amanda and Williams, Janet and Cuthbert, Verna and Hackett, Latha and Aslam, Neelo and Malm, Heli and James, Gregory and Westbom, Lena and Day, Ruth and Ladusans, Edmund and Jackson, Adam and Bruce, Iain and Walker, Robert and Sidhu, Sangeet and Dyer, Catrina and Ashworth, Jane and Hindley, Daniel and DIaz, Gemma Arca and Rawson, Myfanwy and Turnpenny, Peter}},
issn = {{1750-1172}},
keywords = {{Antiepileptic drug; Expert consensus; Fetal valproate syndrome; Guideline; Management; Teratogen}},
language = {{eng}},
month = {{07}},
number = {{1}},
publisher = {{BioMed Central (BMC)}},
series = {{Orphanet Journal of Rare Diseases}},
title = {{Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; A consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability}},
url = {{http://dx.doi.org/10.1186/s13023-019-1064-y}},
doi = {{10.1186/s13023-019-1064-y}},
volume = {{14}},
year = {{2019}},
}