Abstract:
INTRODUCTION:Fetal anticonvulsant syndrome (FACS) describes the pattern of physical and developmental problems seen in those children exposed to certain antiepileptic drugs (AEDs) in utero. The diagnosis of FACS is a clinical one and so excluding alternative diagnoses such as genetic disorders is essential. METHODS:We reviewed the pathogenicity of reported variants identified on exome sequencing in the Deciphering Developmental Disorders (DDD) Study in 42 children exposed to AEDs in utero, but where a diagnosis other than FACS was suspected. In addition, we analysed chromosome microarray data from 10 patients with FACS seen in a Regional Genetics Service. RESULTS:Seven children (17%) from the DDD Study had a copy number variant or pathogenic variant in a developmental disorder gene which was considered to explain or partially explain their phenotype. Across the AED exposure types, variants were found in 2/15 (13%) valproate exposed cases and 3/14 (21%) carbamazepine exposed cases. No pathogenic copy number variants were identified in our local sample (n=10). CONCLUSIONS:This study is the first of its kind to analyse the exomes of children with developmental disorders who were exposed to AEDs in utero. Though we acknowledge that the results are subject to bias, a significant number of children were identified with alternate diagnoses which had an impact on counselling and management. We suggest that consideration is given to performing whole exome sequencing as part of the diagnostic work-up for children exposed to AEDs in utero.
journal_name
Arch Dis Childjournal_title
Archives of disease in childhoodauthors
Jackson A,Ward H,Bromley RL,Deshpande C,Vasudevan P,Scurr I,Dean J,Shannon N,Berg J,Holder S,Baralle D,Clayton-Smith J,DDD Study.doi
10.1136/archdischild-2018-316547subject
Has Abstractpub_date
2020-04-01 00:00:00pages
384-389issue
4eissn
0003-9888issn
1468-2044pii
archdischild-2018-316547journal_volume
105pub_type
杂志文章abstract::This study describes the pattern of oxygen consumption (VO2), rectal temperature (Tr), and acral skin temperature (Tac) in sleeping and resting (awake) burned children nursed in a thermoneutral environment. Measurements of respiratory gas exchange (VO2 and carbon dioxide production (VCO2)) were made using an open circ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.71.1.31
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journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2009.172528
更新日期:2010-10-01 00:00:00
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journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2011-301256
更新日期:2013-02-01 00:00:00
abstract:OBJECTIVES:To investigate the prevalence of infant crying and maternal soothing techniques in relation to ethnic origin and other sociodemographic variables. DESIGN:A questionnaire survey among mothers of 2-3 month old infants registered at six child health clinics in Amsterdam, the Netherlands. SUBJECTS:A questionna...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.79.4.312
更新日期:1998-10-01 00:00:00
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journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.63.2.201
更新日期:1988-02-01 00:00:00
abstract::Five cases are reported of spontaneous remission of chronic childhood thrombocytopenia four or more years after diagnosis. Other than typical features of chronic idiopathic thrombocytopenic purpura there were no obvious markers predictive of late remission, although a slow progressive recovery was common to four of th...
journal_title:Archives of disease in childhood
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doi:10.1136/adc.68.5.680
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journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.60.7.676
更新日期:1985-07-01 00:00:00
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journal_title:Archives of disease in childhood
pub_type: 杂志文章,随机对照试验
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更新日期:2009-05-01 00:00:00
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journal_title:Archives of disease in childhood
pub_type: 杂志文章,随机对照试验
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更新日期:2013-09-01 00:00:00
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journal_title:Archives of disease in childhood
pub_type: 杂志文章
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journal_title:Archives of disease in childhood
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journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.61.6.600
更新日期:1986-06-01 00:00:00
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journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.63.6.660
更新日期:1988-06-01 00:00:00
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pub_type: 杂志文章
doi:10.1136/adc.58.12.997
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journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.63.8.983
更新日期:1988-08-01 00:00:00
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journal_title:Archives of disease in childhood
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journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
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journal_title:Archives of disease in childhood
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journal_title:Archives of disease in childhood
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journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
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journal_title:Archives of disease in childhood
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doi:10.1136/adc.63.6.606
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journal_title:Archives of disease in childhood
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journal_title:Archives of disease in childhood
pub_type: 杂志文章,多中心研究
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更新日期:2010-10-01 00:00:00
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journal_title:Archives of disease in childhood
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journal_title:Archives of disease in childhood
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journal_title:Archives of disease in childhood
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journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.82.4.311
更新日期:2000-04-01 00:00:00
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journal_title:Archives of disease in childhood
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