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Diagnosis and manag...
Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; A consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability
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- Clayton-Smith, Jill (författare)
- Manchester Centre for Genomic Medicine,University of Manchester
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- Bromley, Rebecca (författare)
- Royal Manchester Children's Hospital,University of Manchester
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- Dean, John (författare)
- Aberdeen Royal Infirmary
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- Journel, Hubert (författare)
- Centre Hospitalier Bretagne Atlantique
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- Odent, Sylvie (författare)
- CHU Hôpital Sud, Rennes
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- Wood, Amanda (författare)
- Murdoch Children's Research Institute,Aston University
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- Williams, Janet (författare)
- The Fetal Anti-Convulsant Trust (FACT)
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- Cuthbert, Verna (författare)
- Royal Manchester Children's Hospital
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- Hackett, Latha (författare)
- Royal Manchester Children's Hospital
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- Aslam, Neelo (författare)
- Royal Manchester Children's Hospital
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- Malm, Heli (författare)
- University of Helsinki,Helsinki University Central Hospital
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- James, Gregory (författare)
- University College London,Great Ormond Street Hospital,National Hospital for Neurology and Neurosurgery
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- Westbom, Lena (författare)
- Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital
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- Day, Ruth (författare)
- Guardian Medical Centre
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- Ladusans, Edmund (författare)
- Royal Manchester Children's Hospital
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- Jackson, Adam (författare)
- Salford Royal NHS Foundation Trust
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- Bruce, Iain (författare)
- Royal Manchester Children's Hospital
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- Walker, Robert (författare)
- Royal Manchester Children's Hospital
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- Sidhu, Sangeet (författare)
- Royal Manchester Children's Hospital
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- Dyer, Catrina (författare)
- Royal Manchester Children's Hospital
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- Ashworth, Jane (författare)
- University Hospital of South Manchester NHS Foundation Trust
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- Hindley, Daniel (författare)
- Breightmet Health Centre
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- DIaz, Gemma Arca (författare)
- Hospital Clínic of Barcelona
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- Rawson, Myfanwy (författare)
- Manchester Centre for Genomic Medicine
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- Turnpenny, Peter (författare)
- Royal Devon & Exeter Hospital
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(creator_code:org_t)
- 2019-07-19
- 2019
- Engelska.
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Ingår i: Orphanet Journal of Rare Diseases. - : Springer Science and Business Media LLC. - 1750-1172. ; 14:1
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http://dx.doi.org/10... (free)
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https://ojrd.biomedc...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Hälsovetenskap -- Hälso- och sjukvårdsorganisation, hälsopolitik och hälsoekonomi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Health Sciences -- Health Care Service and Management, Health Policy and Services and Health Economy (hsv//eng)
Nyckelord
- Antiepileptic drug
- Expert consensus
- Fetal valproate syndrome
- Guideline
- Management
- Teratogen
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
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Till lärosätets databas
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Clayton-Smith, J ...
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Bromley, Rebecca
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Dean, John
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Journel, Hubert
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Odent, Sylvie
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Wood, Amanda
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visa fler...
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Williams, Janet
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Cuthbert, Verna
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Hackett, Latha
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Aslam, Neelo
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Malm, Heli
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James, Gregory
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Westbom, Lena
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Day, Ruth
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Ladusans, Edmund
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Jackson, Adam
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Bruce, Iain
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Walker, Robert
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Sidhu, Sangeet
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Dyer, Catrina
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Ashworth, Jane
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Hindley, Daniel
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DIaz, Gemma Arca
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Rawson, Myfanwy
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Turnpenny, Peter
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