| کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
|---|---|---|---|---|
| 371035 | 621894 | 2016 | 6 صفحه PDF | دانلود رایگان |
کلمات کلیدی
1.مقدمه
2. روش ها
2.1.بیماران و نمونه ها
2.2 آنالیز ژنتیکی
جدول 1. ترکیب گروه براساس سن،جنسیت و ژنوتیپ.زن=F، مرد=M،دیزومی تک والده پدری=Pupd. نیاز به درمان،نیاز به درمان تک با چند درمانه در زمان بررسی با گروه های ژنتیکی متمایز.
2.3 صرع
2.4 دوره های ناشی از سرخوشی
2.5 آنالیز آماری
3.نتایج
3.1 مطالعه جمعیت
3.2 مطالعات ژنتیکی
3.3 حذف ها/ همانندسازی های خارج از 15q11.2–q13
3.4 صرع
3.5 دوره های القای قهقهه
4.بحث
پیوست A. پرسشنامه ی اپیزود های القای قهقهه
• All children with AS due to a deletion developed epilepsy.
• Epilepsy onset occurred significantly earlier among children with deletion compared to children with UBE3A mutation or pUPD.
• Laughter-induced postural muscle tone loss occurred only among deletion cases.
• We found no differences in severity of epilepsy between children with Class I or Class II deletions.
• The drugs most frequently prescribed were benzodiazepines in monotherapy, or a combination of benzodiazepines and valproic acid.
BackgroundAngelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability, epilepsy, and low threshold for laughter.AimsWe investigated the occurrence and severity of epilepsy and laughter-induced loss of postural muscle tone determined by the different genetic subtypes.MethodsThis study included 39 children with AS. Deletion breakpoints were determined by high resolution CGH microarray (1 × 1 M Agilent). Clinical data were based on a parent interview and medical record review.ResultsAll 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.ConclusionEpilepsy 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: Research in Developmental Disabilities - Volume 56, September 2016, Pages 177–182