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一名患有1q21.3微缺失及自伤性失明的自闭症儿童严重发育倒退的管理

Management of Severe Developmental Regression in an Autistic Child with a 1q21.3 Microdeletion and Self-Injurious Blindness.

作者信息

Cravero Cora, Guinchat Vincent, Xavier Jean, Meunier Camille, Diaz Lautaro, Mignot Cyril, Doummar Diane, Chantot-Bastaraud Sandra, Consoli Angèle, Cohen David

机构信息

Department of Child and Adolescent Psychiatry, Reference Centre for Rare Psychiatric Diseases, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Université Pierre et Marie Curie, 47-83 Bd de l'Hôpital, 75013 Paris, France.

Department of Pediatric Neurology, AP-HP, Hôpital Armand-Trousseau, 26 Avenue du Dr. Arnold Netter, 75012 Paris, France.

出版信息

Case Rep Psychiatry. 2017;2017:7582780. doi: 10.1155/2017/7582780. Epub 2017 May 25.

Abstract

We report the case of a young boy with nonverbal autism and intellectual disability, with a rare de novo 1q21.3 microdeletion. The patient had early and extreme self-injurious behaviours that led to blindness, complicated by severe developmental regression. A significant reduction in the self-injurious behaviours and the recovery of developmental dynamics were attained in a multidisciplinary neurodevelopmental inpatient unit. Improvement was obtained after managing all causes of somatic pains, using opiate blockers and stabilizing the patient's mood. We offered both sensorimotor developmental approach with therapeutic body wrap and specific psychoeducation adapted to his blindness condition for improving his communication abilities.

摘要

我们报告了一名患有非言语型自闭症和智力残疾的小男孩的病例,其患有罕见的新发1q21.3微缺失。该患者早期出现极端的自伤行为,导致失明,并伴有严重的发育倒退。在一个多学科神经发育住院单元中,自伤行为显著减少,发育动态得以恢复。在处理了所有躯体疼痛原因、使用阿片类阻滞剂并稳定患者情绪后,病情得到改善。我们提供了感觉运动发育方法,包括治疗性身体包裹,以及针对其失明状况的特定心理教育,以提高他的沟通能力。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e6a4/5463149/0d5d5ae0f23a/CRIPS2017-7582780.001.jpg

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