CLINICAL PROFILE OF ANGELMAN SYNDROME AT DIFFERENT AGES
CLINICAL PROFILE OF ANGELMAN SYNDROME AT DIFFERENT AGES
复制标题
DOI：
10.1002/ajmg.1320560213
复制
发表时间：
1995-03-27
期刊：
影响因子：
--
通讯作者：
FRYNS, JP
中科院分区：
文献类型：
--
作者：
BUNTINX, IM;HENNEKAM, RCM;FRYNS, JP
本文描述了47例来自比利时和荷兰的Angelman综合征（AS）患者的病史资料、不同年龄的临床和行为特征。AS的临床表现在2-16岁之间最为明显。这个年龄组的大多数患者除了表现出智力迟钝和（几乎）无言语（这是一种普遍的特征）之外，还表现出至少8种主要特征（爆发性大笑、快乐的性格、多动行为、小头畸形、短头畸形、巨口症、舌突出、下颌骨突出、牙齿间隔较宽、僵硬和木偶样运动、典型的身材、宽基步态）。婴儿的诊断仅基于有限数量的临床特征或既往资料。但是，如果这些症状同时出现，则表明为AS。在老年患者中，诊断可能会受到阻碍，部分原因是行为特征的变化和发作频率的降低。其他表现，如脊柱侧凸，可能会随着年龄的增长而变得更加明显。(C)1995 Wiley-Liss，Inc.
We describe 47 patients with Angelman syndrome (AS) from Belgium and the Netherlands, including the anamnestic data, the clinical and the behavioral attributes at different ages. The clinical picture of AS is most distinct between the ages of 2-16 years. Most patients of this age group show at least 8 of the major characteristics (bursts of laughter, happy disposition, hyperactive behaviour, microcephaly, brachycephaly, macrostomia, tongue protrusion, mandibular prognathism, widely spaced teeth, stiff and puppetlike movements, typical stature, wide based gait) beside the mental retardation and (almost) absence of speech, which is a universal trait. The diagnosis in infants is based on only a limited number of clinical characteristics or on anamnestic data. However, if these occur in combination, they are indicative of AS. In older patients, the diagnosis may be hampered in part because of the changing behavioral characteristics and the decreasing frequency of fits. Other manifestations, such as scoliosis, may become more pronounced with age. (C) 1995 Wiley-Liss, Inc.