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莱伯先天性黑蒙:是否存在自闭症成分?

Leber's congenital amaurosis: is there an autistic component?

作者信息

Fazzi E, Rossi M, Signorini S, Rossi G, Bianchi P E, Lanzi G

机构信息

Department of Child Neurology and Psychiatry, IRCCS C. Mondino Institute of Neurology, University of Pavia, Via Mondino 2, 27100 Pavia, Italy.

出版信息

Dev Med Child Neurol. 2007 Jul;49(7):503-7. doi: 10.1111/j.1469-8749.2007.00503.x.

DOI:10.1111/j.1469-8749.2007.00503.x
PMID:17593121
Abstract

There is much evidence in the literature suggesting that children with congenital blindness can also present autistic like features. The aetiopathogenetic and clinical significance of this association is still unclear. Given the central role played by vision in development, we set out to establish the significance of autistic-like behaviours in children with early-onset severe visual impairment. Our sample comprised 24 children (13 males, 11 females; mean age 5y 2mo; range 2-11y) affected by Leber's congenital amaurosis (LCA). The results of our administration of a modified Childhood Autism Rating Scale--excluding item VII (Visual Responsiveness)--showed that only four of the children gave an overall score indicating the presence of autism (moreover, of mild/moderate degree). Hardly any of the children in our LCA sample presented major dysfunctions in their relationships with other people or in their social and emotional responsiveness, thus allowing us to exclude a genuine comorbidity with a picture of autism. Indeed, the risk facing the visually impaired child seems to concern their early interactive experiences, which may be affected by their inability to connect with others, and may be prevented through the development of specific strategies of intervention.

摘要

文献中有很多证据表明,先天性失明儿童也可能表现出自闭症样特征。这种关联的病因病理及临床意义仍不明确。鉴于视觉在发育过程中所起的核心作用,我们着手确定早发性严重视力障碍儿童中自闭症样行为的意义。我们的样本包括24名患有莱伯先天性黑蒙(LCA)的儿童(13名男性,11名女性;平均年龄5岁2个月;范围2 - 11岁)。我们使用修改后的儿童自闭症评定量表(不包括项目VII“视觉反应性”)进行评估的结果显示,只有4名儿童的总分表明存在自闭症(此外,为轻度/中度)。我们LCA样本中的儿童几乎没有在与他人的关系或社交及情感反应方面表现出严重功能障碍,因此我们可以排除与自闭症症状真正的共病情况。事实上,视力障碍儿童面临的风险似乎与他们早期的互动经历有关,这可能会受到他们无法与他人建立联系的影响,并且可以通过制定特定的干预策略来预防。

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Leber's congenital amaurosis: is there an autistic component?莱伯先天性黑蒙:是否存在自闭症成分?
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A Multidimensional, Multisensory and Comprehensive Rehabilitation Intervention to Improve Spatial Functioning in the Visually Impaired Child: A Community Case Study.
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The development of vision between nature and nurture: clinical implications from visual neuroscience.视觉在先天与后天之间的发展:视觉神经科学的临床启示
Childs Nerv Syst. 2020 May;36(5):911-917. doi: 10.1007/s00381-020-04554-1. Epub 2020 Mar 5.