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

Abstract

Introduction

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

Objective

To identify “early warning signs” for the detection of ASD in DS in the first years of life (0 to 4 years).

Methods

Retrospective cohort study: DS with an ASD diagnosis (DS-ASD) and healthy-DS (DS-noASD) matched by sex and age. Early warning signs were identified and selected from different questionnaires on ASD in the general population: 1. Lack of social smile; 2. lack of shared attention; 3. Lack of seeking comfort/protection; 4. Lack of complaint; 5. Little interest in others; 6. No pointing; 7. Absence of -imitation; 8. Lack of babbling/vocalisation; 9. Inappropriate facial expression; 10. Presence of rituals as repetitive actions or repetitive sentences; 11. Mannerisms hands/fingers; 12. Stereotypies; 13. Lack of sensory interest; and 14. Absence of gaze integration.

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 2013, 12 videos of 12 people with SD were obtained: 6 from the SD-ASD group and 6 from the SD-noASD group. The qualitative analysis identified as early warning signals related to the diagnosis of ASD: “Absence of gaze integration”, “absence of imitation”, “presence of rituals as repetitive actions or repetitive sentences” and “stereotypies”, and the quantitative analysis: “lack of shared attention” and “little interest in others”.

Conclusion

Certain “warning signs” may lead to a diagnosis of ASD in the first years of life in children with DS.