Ahsgren Ingegerd, Baldwin Ingela, Goetzinger-Falk Christina, Erikson Anders, Flodmark Olof, Gillberg Christopher
Department of Child and Adolescent Neurology and Habilitation, Norrliden, Sundsvall Hospital, SE 851 86 Sundsvall, Sweden.
Dev Med Child Neurol. 2005 Mar;47(3):193-8. doi: 10.1017/s0012162205000356.
The suggested link between autism and cerebellar dysfunction formed the background for a Swedish clinical study in 2001. Thirty-two children (17 females, 15 males; mean age 12y, SD 3y 10mo; range 6 to 21y) with a clinical suspicion of non-progressive congenital ataxia were examined, and parents were interviewed about the presence of neuropsychiatric problems in the child. Twelve children had simple ataxia, eight had ataxic diplegia, and 12 had 'borderline' ataxia. All but one of the 32 children had a mild to moderate gross motor disability according to Gross Motor Function Classification System (15 were categorized as level I, 16 as level II, and one child as level IV). Neuroimaging and neuropsychological testing were achieved in most cases. There was a strong association between learning disability* and autism spectrum disorder (often combined with hyperactivity disorder) on the one hand, and both simple and borderline 'ataxia' on the other, but a weaker link between ataxic diplegia and neuropsychiatric disorders. A correlation between cerebellar macropathology on neuroimaging and neuropsychiatric disorders was not supported. Congenital ataxia might not be a clear-cut syndrome of cerebellar disease, but one of many signs of prenatal events or syndromes, leading to a complex neurodevelopmental disorder including autism and learning disability.
自闭症与小脑功能障碍之间的潜在联系构成了2001年一项瑞典临床研究的背景。对32名临床怀疑患有非进行性先天性共济失调的儿童（17名女性，15名男性；平均年龄12岁，标准差3岁10个月；年龄范围6至21岁）进行了检查，并就儿童是否存在神经精神问题对其父母进行了访谈。12名儿童患有单纯性共济失调，8名患有共济失调性双侧瘫，12名患有“临界”共济失调。根据粗大运动功能分类系统，32名儿童中除1名外，均有轻度至中度的粗大运动功能障碍（15名被归类为I级，16名被归类为II级，1名儿童被归类为IV级）。大多数情况下都进行了神经影像学和神经心理学测试。一方面，学习障碍*与自闭症谱系障碍（常合并多动障碍）之间，以及另一方面与单纯性和临界性“共济失调”之间存在密切关联，但共济失调性双侧瘫与神经精神障碍之间的联系较弱。神经影像学上的小脑宏观病变与神经精神障碍之间不存在相关性。先天性共济失调可能并非明确的小脑疾病综合征，而是产前事件或综合征的众多体征之一，会导致包括自闭症和学习障碍在内的复杂神经发育障碍。
