A special type of head stereotypies in children with developmental (?cerebellar) disorder: description of 8 cases and literature review.
A special type of head stereotypies in children with developmental (?cerebellar) disorder: description of 8 cases and literature review.
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DOI：
10.1053/ejpn.2002.0582
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发表时间：
2002-01-01
期刊：
影响因子：
--
通讯作者：
Deonna, Thierry
中科院分区：
文献类型：
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作者：
Hottinger-Blanc, Pauline M Z;Ziegler, Anne-Lise;Deonna, Thierry
作者报告了八名儿童，他们在生命的第一年就表现出孤立的头部刻板印象，这既不符合通常正常的“婴儿期节奏习惯模式”，也不符合幼儿描述的各种类型的异常重复头部运动。他们的头部定型与摇头娃娃综合症中描述的非常相似。神经系统状态表现为轴性肌张力减退、共济失调、动眼神经异常、运动和语言发育迟缓。对患者进行了数年的临床跟踪和视频记录。未发现单一病因。计算机断层扫描 (CT) 或磁共振成像 (MRI) 显示两名儿童有先天性小脑异常，但没有脑积水。这些孩子的结果表明，除了一名患者外，所有患者的认知和心理社会发展均正常，尽管八名患者中的六名仍然存在头部刻板印象，而且所有人都仍然明显笨拙。头部定型和运动迟缓之间的关联应促使人们寻找小脑先天性畸形。这些患者的结果比最初预期的要好得多，并且这些头部刻板印象与智力低下或精神病理学无关。还讨论了所涉及的可能机制。
The authors report eight children, who presented in the first year of life with isolated head stereotypies, that corresponded neither to the usual normal 'rhythmic habit patterns of infancy', nor to various types of abnormal repetitive head movements described in young children. Their head stereotypies closely resembled those described in bobble-head doll syndrome. The neurological status evidenced axial hypotonia, ataxia, oculomotor abnormalities, motor and language delay. The patients were followed for several years clinically and with video recordings. No single aetiology was found. Computed tomography (CT) or magnetic resonance imaging (MRI) show a congenital cerebellar abnormality in two children but no hydrocephalus. The outcome of these children showed in all but one patient a normal cognitive and psychosocial development, even though the head stereotypies are still present in six of eight patients and all remain significantly clumsy. The association of head stereotypies and motor delay should prompt a search for cerebellar congenital malformation. The outcome of those patients was much better than originally anticipated and these head stereotypies are not related either to mental retardation, or to psychopathology. The possible mechanisms involved are also discussed.