Señales de alarma precoces del trastorno del espectro autista en personas con síndrome de Down

B. Ortiz , L. Videla , I. Gich , B. Alcacer , D. Torres , I. Jover , E. Sánchez , M. Iglesias , J. Fortea , S. Videla
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Abstract

Introduction

In general population, the current trend is to make the diagnosis of Autism Spectrum Disorders (ASD) at an early stage, which it is crucial to improve the prognosis. In contrast, in Down syndrome (DS) population, the ASD diagnosis is frequently delayed, having negative consequences on the overall development of the children who suffer.

Objective

To identify ‘early warning signals’ for the detection of the ASD in DS in the first years of life (0 to 4 years).

Methods

Retrospective cohort study: SD with an ASD diagnosis (SD-ASD) and healthy-DS (SD-noASD) matched by sex and age. Early warning signals were identified and selected from different questionnaires for ASD of general population: 1. Lack of social smile; 2. Shared care foul; 3. Lack of finding comfort/protection; 4. Lack of complaint; 5. Little interest for the others; 6. No pointing; 7. Non-imitation; 8. Lack of babbling/vocalization; 9. Inappropriate facial expression; 10. Presence of rituals as repetitive actions or repetitive sentences; 11. Mannerisms hands/fingers; 12. Stereotypes; 13. Lack of interest sensory; and 14. Non-integration of the look.

Six investigators, who did not participate in the identification of the ‘early warning signals’, selected those that would guide a diagnosis of ASD (qualitative analysis).

Parents were asked for videos of people with DS in ‘activity’ between 0 and 4 years. The same investigators, blinded to the diagnosis of ASD and after watching the videos, scored the ‘early warning signals’ in three categories: presence / absence / non-evaluable (quantitative analysis).

Results

During the year 2013, 12 videos of 12 people with SD were obtained: 6 from SD-ASD group and 6 from the SD-noASD group. The qualitative analysis identified as early warning signals related to the diagnosis of ASD: ‘non-integration of the look’, ‘non-imitation’, ‘presence of rituals as repetitive actions or repetitive sentences’ and ‘stereotypies’, and the quantitative analysis: ‘shared care foul’ and ‘little interest for the others’.

Conclusion

Certain ‘warning signals’ may lead to a diagnosis of ASD in the first years of life in children with DS.

唐氏综合症患者自闭症谱系障碍的早期预警信号
在一般人群中,早期诊断自闭症谱系障碍(ASD)是目前的趋势,这对改善预后至关重要。相反,在唐氏综合症(DS)人群中,ASD的诊断经常被推迟,对患病儿童的整体发展产生负面影响。目的探讨幼儿出生后1年(0 ~ 4岁)诊断ASD的“早期预警信号”。方法回顾性队列研究:有ASD诊断的SD (SD-ASD)和按性别和年龄匹配的健康ds (SD- noasd)。从普通人群的不同问卷中识别和选择ASD的早期预警信号:缺乏社交微笑;2. 共同关心犯规;3.缺乏安慰/保护;4. 不抱怨;5. 对其他人没什么兴趣;6. 没有指向;7. Non-imitation;8. 缺乏咿呀学语/发声;9. 不恰当的面部表情;10. 仪式的存在是重复的动作或重复的句子;11. 言谈举止的手/手指;12. 刻板印象;13. 缺乏兴趣感;和14。非一体化的外观。六名没有参与识别“早期预警信号”的研究人员选择了那些可以指导ASD诊断的信号(定性分析)。家长们被要求观看儿童在0到4岁之间“活动”的视频。同样的研究人员,对ASD的诊断不知情,在观看视频后,对“早期预警信号”在三个类别中进行评分:存在/不存在/不可评估(定量分析)。结果2013年共获得12名SD患者的12段视频,其中SD- asd组6段,SD- noasd组6段。定性分析确定了与ASD诊断相关的早期预警信号:“表情不整合”、“不模仿”、“重复动作或重复句子的仪式”和“刻板印象”,定量分析:“共同照顾犯规”和“对他人不感兴趣”。结论某些“警示信号”可能会在儿童退行性椎体滑移的最初几年导致ASD的诊断。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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