Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability.
Antiepileptic drug
Expert consensus
Fetal valproate syndrome
Guideline
Management
Teratogen
Journal
Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602
Informations de publication
Date de publication:
19 07 2019
19 07 2019
Historique:
received:
19
02
2019
accepted:
12
04
2019
entrez:
21
7
2019
pubmed:
22
7
2019
medline:
28
4
2020
Statut:
epublish
Résumé
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. 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 Review of published and unpublished literature concerning management of FVSD was undertaken and the level of evidence from these sources graded.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. 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. 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.
Sections du résumé
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.
Identifiants
pubmed: 31324220
doi: 10.1186/s13023-019-1064-y
pii: 10.1186/s13023-019-1064-y
pmc: PMC6642533
doi:
Substances chimiques
Anticonvulsants
0
Teratogens
0
Valproic Acid
614OI1Z5WI
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
180Subventions
Organisme : Department of Health
ID : PDF-2013-06-041
Pays : United Kingdom
Références
Acta Neurol Scand. 1992 Mar;85(3):204-7
pubmed: 1575005
Arch Dis Child. 1993 Sep;69(3 Spec No):288-91
pubmed: 8215567
J Med Genet. 2002 Apr;39(4):251-9
pubmed: 11950853
J Pediatr. 1980 Aug;97(2):332-3
pubmed: 6772753
Neurology. 1992 Apr;42(4 Suppl 5):119-25
pubmed: 1574165
Clin Pharmacol Ther. 2015 Oct;98(4):417-41
pubmed: 26044279
Brain. 2011 Aug;134(Pt 8):2197-221
pubmed: 21784775
BMJ Open. 2017 Jan 5;7(1):e012836
pubmed: 28069620
J Med Genet. 2000 Jul;37(7):489-97
pubmed: 10882750
Neurology. 2005 Mar 22;64(6):949-54
pubmed: 15781806
Fetal Diagn Ther. 1994 May-Jun;9(3):155-8
pubmed: 8060510
Epilepsy Behav. 2012 Aug;24(4):449-56
pubmed: 22749607
Brain. 2014 Mar;137(Pt 3):795-805
pubmed: 24468822
J Neurol Neurosurg Psychiatry. 2018 Dec;89(12):1320-1323
pubmed: 29661925
J Neurol Neurosurg Psychiatry. 2001 Jan;70(1):15-21
pubmed: 11118242
Epilepsy Res. 2005 Jul;65(3):189-200
pubmed: 16029946
Neurology. 1992 Apr;42(4 Suppl 5):83-8
pubmed: 1574183
Prenat Diagn. 1993 Oct;13(10):909-18
pubmed: 8309898
Neurotoxicol Teratol. 2016 Mar-Apr;54:5-14
pubmed: 26791321
Am J Med Genet. 1984 Nov;19(3):473-81
pubmed: 6439041
J Clin Psychopharmacol. 1998 Apr;18(2):167-9
pubmed: 9555601
Epilepsy Behav. 2017 Jan;66:105-112
pubmed: 28038386
J Bone Joint Surg Br. 1994 Jul;76(4):548-50
pubmed: 8027137
J Med Genet. 1995 Sep;32(9):724-7
pubmed: 8544193
Drug Saf. 2013 May;36(5):359-69
pubmed: 23615755
JAMA Neurol. 2018 Jun 1;75(6):663-671
pubmed: 29459981
Can J Neurol Sci. 1987 Aug;14(3):290-3
pubmed: 3117346
BMJ Open. 2015 Sep 10;5(9):e007425
pubmed: 26359281
JAMA Pediatr. 2014 Aug;168(8):729-36
pubmed: 24934501
Cochrane Database Syst Rev. 2016 Nov 07;11:CD010224
pubmed: 27819746
Dev Med Child Neurol. 1994 Apr;36(4):361-9
pubmed: 7512516
Pharmacoepidemiol Drug Saf. 2010 Aug;19(8):803-7
pubmed: 20680999
Am J Med Genet. 1988 Jan;29(1):171-85
pubmed: 3125743
N Engl J Med. 2009 Apr 16;360(16):1597-605
pubmed: 19369666
CMAJ. 2010 Dec 14;182(18):E839-42
pubmed: 20603348
Neurology. 2005 Mar 22;64(6):961-5
pubmed: 15781808
Clin Dysmorphol. 2014 Jan;23(1):24-25
pubmed: 24263622
Epilepsy Behav. 2008 Jul;13(1):229-36
pubmed: 18346940
Acta Paediatr. 2018 Aug;107(8):1370-1378
pubmed: 29469926
Cochrane Database Syst Rev. 2014 Oct 30;(10):CD010236
pubmed: 25354543
J Paediatr Child Health. 2007 Sep;43(9):643-5
pubmed: 17688650
J Clin Psychopharmacol. 2018 Feb;38(1):7-10
pubmed: 29215383
J Matern Fetal Neonatal Med. 2011 Mar;24(3):521-4
pubmed: 21291342
Acta Paediatr. 1994 Jul;83(7):789-90
pubmed: 7949818
Childs Nerv Syst. 2018 Feb;34(2):285-291
pubmed: 29075839
Dev Med Child Neurol. 2005 Aug;47(8):551-5
pubmed: 16108456
Arch Dis Child Fetal Neonatal Ed. 2016 May;101(3):F207-11
pubmed: 26408639
Neurology. 2015 Jan 27;84(4):382-90
pubmed: 25540307
Lancet. 1982 Nov 13;2(8307):1096
pubmed: 6127554
Brain Sci. 2017 Dec 01;7(12):
pubmed: 29194420
Lancet Neurol. 2013 Mar;12(3):244-52
pubmed: 23352199
Arch Dis Child. 2011 Jul;96(7):643-7
pubmed: 21415043
Can J Psychiatry. 2019 Mar;64(3):169-176
pubmed: 29788774
Neurology. 2002 Aug 27;59(4):630-3
pubmed: 12196666
Epilepsia. 2017 Feb;58(2):274-281
pubmed: 28084641
J Neurosurg. 2001 Nov;95(5):778-82
pubmed: 11702867
Future Sci OA. 2016 Apr 21;2(2):FSO116
pubmed: 28031963
J Infect Dis. 1989 Jul;160(1):83-94
pubmed: 2732519
J Neurol Neurosurg Psychiatry. 2013 Jun;84(6):637-43
pubmed: 23370617
Paediatr Respir Rev. 2016 Jan;17:3-8
pubmed: 25802018
J Pediatr. 1986 Jun;108(6):997-1004
pubmed: 3086531
Clin Dysmorphol. 2014 Apr;23(2):74-75
pubmed: 24584103
Epilepsy Res. 2008 Sep;81(1):1-13
pubmed: 18565732
Ir J Med Sci. 2018 Nov;187(4):965-968
pubmed: 29396778
Prenat Diagn. 2008 Mar;28(3):259-61
pubmed: 18264949
J Med Genet. 1987 Nov;24(11):692-5
pubmed: 3123693
J Int Neuropsychol Soc. 2011 Jan;17(1):133-42
pubmed: 21092354
Seizure. 2002 Dec;11(8):512-8
pubmed: 12464511
JAMA Netw Open. 2019 Jan 4;2(1):e186606
pubmed: 30646190
Lancet. 1986 Jun 14;1(8494):1392-3
pubmed: 2872511
Lancet Neurol. 2011 Jul;10(7):609-17
pubmed: 21652013
Eur J Pediatr. 1995 Mar;154(3):220-1
pubmed: 7758521
Medicine (Baltimore). 2018 May;97(20):e10655
pubmed: 29768332
Lancet. 1982 Oct 23;2(8304):937
pubmed: 6126782
J Med Genet. 2002 Apr;39(4):243-4
pubmed: 11950850
Arch Dis Child. 2013 Oct;98(10):784-6
pubmed: 23908189
Hum Genome Var. 2018 Jul 20;5:20
pubmed: 30062040
Lancet. 1983 Nov 12;2(8359):1142
pubmed: 6138672
Neurotoxicol Teratol. 2019 Jan - Feb;71:16-21
pubmed: 30453023
Epilepsia. 2009 Sep;50(9):2130-9
pubmed: 19490036
Epilepsia. 2015 Jul;56(7):1047-55
pubmed: 25963613
Brain. 2011 Feb;134(Pt 2):396-404
pubmed: 21224309
J Pediatr. 2011 Jan;158(1):119-23, 123.e1-4
pubmed: 20850761
Lancet. 2007 Mar 24;369(9566):1016-26
pubmed: 17382828
JAMA Neurol. 2013 Nov;70(11):1367-74
pubmed: 24061295
Neuropsychopharmacology. 2005 Jan;30(1):80-9
pubmed: 15238991
Epilepsia. 2009 May;50(5):1247-55
pubmed: 19507305
N Engl J Med. 2010 Jun 10;362(23):2185-93
pubmed: 20558369
Case Rep Pediatr. 2016;2016:3495910
pubmed: 28003925
Seizure. 2015 May;28:57-65
pubmed: 25837494
Seizure. 2000 Apr;9(3):233-4
pubmed: 10775521
J Clin Neurosci. 2004 Nov;11(8):854-8
pubmed: 15519862
Neurosurg Rev. 2001 Mar;24(1):31-4
pubmed: 11339465
Ophthalmology. 2002 May;109(5):942-7
pubmed: 11986102
J Neurol Neurosurg Psychiatry. 2006 Feb;77(2):193-8
pubmed: 16157661
J Med Genet. 1999 Jan;36(1):83-4
pubmed: 9950375
Eur J Pediatr. 1992 Dec;151(12):919-20
pubmed: 1473550
Arch Dis Child Fetal Neonatal Ed. 2006 Mar;91(2):F90-5
pubmed: 16239295
Lancet. 2006 Jul 15;368(9531):210-5
pubmed: 16844490
J Nutr. 2016 Mar;146(3):494-500
pubmed: 26817717
Am J Med Genet. 2001 Jan 15;98(2):168-75
pubmed: 11223853
JAMA. 2013 Apr 24;309(16):1696-703
pubmed: 23613074
Eur J Pediatr. 1990 Jan;149(4):266-7
pubmed: 2105893