Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome).
Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome).
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DOI：
10.1016/j.jpsychires.2017.03.010
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发表时间：
2017-08
影响因子：
4.8
通讯作者：
Hallmayer J
中科院分区：
文献类型：
--
作者：
Reierson G;Bernstein J;Froehlich-Santino W;Urban A;Purmann C;Berquist S;Jordan J;O'Hara R;Hallmayer J
描述50例PMS患者的发育退化的频率和特征，并研究退化、癫痫和脑电图（EEG）异常与缺失大小之间的相关性。自闭症诊断访谈-修订版（ADI-R）用于评估确诊经前综合症患者的回归情况。从病历审查中获得癫痫发作史和EEG信息。通过阵列CGH确定缺失大小。在所有患者中，43%的患者存在任何年龄的消退史。在那些表现出退化的人中，67%的人在30个月后发病，主要影响运动和自助技能。63%的患者有癫痫发作史，71%的患者有异常EEG史。没有显着的回归和癫痫发作或脑电图异常之间的关联。缺失大小与EEG异常显著相关，但与消退或癫痫发作无关。这项研究发现PMS的回归率很高。与自闭症的回归相反，这通常发生在发育的早期并影响语言和社交技能，我们发现PMS的回归最常在儿童中期发作，影响运动和自助技能。我们还发现经前综合征患者癫痫发作和脑电图异常的发生率很高。然而，异常EEG和癫痫发作史与回归风险增加无关。发现较大的缺失大小与异常EEG的历史显著相关。
To describe the frequency and characteristics of developmental regression in a sample of 50 patients with Phelan McDermid Syndrome (PMS) and investigate the possibility of association between regression, epilepsy, and electroencephalogram (EEG) abnormalities and deletion size. The Autism Diagnostic Interview-Revised (ADI-R) was used to evaluate regression in patients with a confirmed diagnosis of PMS. Information on seizure history and EEGs was obtained from medical record review. Deletion size was determined by array CGH. A history of regression at any age was present in 43% of all patients. Among those exhibiting regression, 67% had onset after the age of 30 months, affecting primarily motor and self-help skills. In 63% of all patients there was a history of seizures and a history of abnormal EEG was also present in 71%. No significant associations were found between regression and seizures or EEG abnormalities. Deletion size was significantly associated with EEG abnormalities, but not with regression or seizures. This study found a high rate of regression in PMS. In contrast to regression in autism, that often occurs earlier in development and affects language and social skills, we found regression in PMS most frequently has an onset in mid-childhood, affecting motor and self-help skills. We also found high rates of seizures and abnormal EEGs in patients with PMS. However, a history of abnormal EEG and seizures was not associated with an increased risk of regression. Larger deletion sizes were found to be significantly associated with a history of abnormal EEG.