Early warning signs of autism spectrum disorder in people with Down syndrome

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

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2 Citations (Scopus)


© 2017 Fundació Catalana 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.
Original languageEnglish
Pages (from-to)3-11
JournalSD Revista Medica Internacional sobre el Sindrome de Down
Issue number1
Publication statusPublished - 1 Jan 2017


  • Autism spectrum disorders
  • Down syndrome
  • Early signs


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