B. Ortiz , L. Videla , I. Gich , B. Alcacer , D. Torres , I. Jover , E. Sánchez , M. Iglesias , J. Fortea , S. Videla
{"title":"唐氏综合症患者自闭症谱系障碍的早期预警信号","authors":"B. Ortiz , L. Videla , I. Gich , B. Alcacer , D. Torres , I. Jover , E. Sánchez , M. Iglesias , J. Fortea , S. Videla","doi":"10.1016/j.sd.2017.01.001","DOIUrl":null,"url":null,"abstract":"<div><h3>Introduction</h3><p>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.</p></div><div><h3>Objective</h3><p>To identify ‘early warning signals’ for the detection of the ASD in DS in the first years of life (0 to 4 years).</p></div><div><h3>Methods</h3><p>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.</p><p>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).</p><p>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).</p></div><div><h3>Results</h3><p>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’.</p></div><div><h3>Conclusion</h3><p>Certain ‘warning signals’ may lead to a diagnosis of ASD in the first years of life in children with DS.</p></div>","PeriodicalId":101116,"journal":{"name":"Revista Médica Internacional sobre el Síndrome de Down","volume":"21 1","pages":"Pages 3-11"},"PeriodicalIF":0.0000,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.sd.2017.01.001","citationCount":"0","resultStr":"{\"title\":\"Señales de alarma precoces del trastorno del espectro autista en personas con síndrome de Down\",\"authors\":\"B. Ortiz , L. Videla , I. Gich , B. Alcacer , D. Torres , I. Jover , E. Sánchez , M. Iglesias , J. Fortea , S. Videla\",\"doi\":\"10.1016/j.sd.2017.01.001\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Introduction</h3><p>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.</p></div><div><h3>Objective</h3><p>To identify ‘early warning signals’ for the detection of the ASD in DS in the first years of life (0 to 4 years).</p></div><div><h3>Methods</h3><p>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.</p><p>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).</p><p>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).</p></div><div><h3>Results</h3><p>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’.</p></div><div><h3>Conclusion</h3><p>Certain ‘warning signals’ may lead to a diagnosis of ASD in the first years of life in children with DS.</p></div>\",\"PeriodicalId\":101116,\"journal\":{\"name\":\"Revista Médica Internacional sobre el Síndrome de Down\",\"volume\":\"21 1\",\"pages\":\"Pages 3-11\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2017-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/j.sd.2017.01.001\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Revista Médica Internacional sobre el Síndrome de Down\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1138207417300015\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Revista Médica Internacional sobre el Síndrome de Down","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1138207417300015","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Señales de alarma precoces del trastorno del espectro autista en personas con síndrome de Down
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.