نبذة مختصرة : 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 Review of published and unpublished literature concerning management of FVSD was undertaken and the level of evidence from these sources graded.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 ...
Relation: Participants contributed to this process in their own time, but were reimbursed for travel expenses to the consensus meeting if these were requested. The one-day consensus meeting was funded from the operating grant of the European Reference Network ERN-ITHACA, through a grant from CHAFEA, HP-ERN-SGA-2017 - 769045.; Clayton-Smith , J , Bromley , R , Dean , J , Journel , H , Odent , S , Wood , A , Williams , J , Cuthbert , V , Hackett , L , Aslam , N , Malm , H , James , G , Westbom , L , Day , R , Ladusans , E , Jackson , A , Bruce , I , Walker , R , Sidhu , S , Dyer , C , Ashworth , J , Hindley , D , Diaz , G A , Rawson , M & Turnpenny , P 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 , vol. 14 , 180 . https://doi.org/10.1186/s13023-019-1064-y; http://hdl.handle.net/10138/306066; cd78d5e5-76ac-4e00-b325-cabcde3f00e1; 000476525600001
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