Abstract：
BACKGROUND:Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability, epilepsy, and low threshold for laughter. AIMS:We investigated the occurrence and severity of epilepsy and laughter-induced loss of postural muscle tone determined by the different genetic subtypes. METHODS:This study included 39 children with AS. Deletion breakpoints were determined by high resolution CGH microarray (1×1M Agilent). Clinical data were based on a parent interview and medical record review. RESULTS:All patients with AS based on a deletion had epilepsy. Epilepsy was present in 3/4 children with UBE3A mutation, and 4/5 with pUPD. Onset of epilepsy occurred earlier in deletion cases compared to pUPD or UBE3A mutations cases. Laughter-induced postural muscle tone loss occurred only among deletion cases. We found no differences in severity of epilepsy between children with a larger Class I or a smaller Class II deletions, or between the total group with a deletion compared to children with pUPD or a UBE3A mutation. The drugs most frequently prescribed were benzodiazepines in monotherapy, or a combination of benzodiazepines and valproic acid. CONCLUSION:Epilepsy is very common in patients with AS, especially in patients with a deletion. Postural muscle tone loss and collapsing during outbursts of laughter were seen in patients with a deletion only.
journal_name
Res Dev Disabiljournal_title
Research in developmental disabilitiesauthors
Granild Bie Mertz L,Christensen R,Vogel I,Hertz JM,Østergaard JRdoi
10.1016/j.ridd.2016.06.002subject
Has Abstractpub_date
2016-09-01 00:00:00pages
177-82eissn
0891-4222issn
1873-3379pii
S0891-4222(16)30107-Xjournal_volume
56pub_type
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journal_title：Research in developmental disabilities
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journal_title：Research in developmental disabilities
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journal_title：Research in developmental disabilities
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journal_title：Research in developmental disabilities
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journal_title：Research in developmental disabilities
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journal_title：Research in developmental disabilities
pub_type： 杂志文章,随机对照试验
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更新日期：2013-11-01 00:00:00
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journal_title：Research in developmental disabilities
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journal_title：Research in developmental disabilities
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journal_title：Research in developmental disabilities
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journal_title：Research in developmental disabilities
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journal_title：Research in developmental disabilities
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