Autism Spectrum Disorder in Children with Down Syndrome: Perspectives and Experiences of Healthcare Practitioners and Caregivers in Canada
Early intervention is essential for children diagnosed with both Down Syndrome (DS) and Autism Spectrum Disorder (ASD); a condition known as DS-ASD. However, the complex challenges involved in distinguishing ASD in the presence of DS often lead to significant diagnosis delays.
This study aims to identify the factors contributing to diagnosis delays within the Canadian healthcare system and seeks to explore physicians’ current practices regarding DS-ASD and understand the challenges faced by caregivers. As a mother of a child with DS, my advocacy for equitable healthcare is driven by personal experience and commitment to research in the field.
Background
Autism Spectrum Disorder (ASD) and Down Syndrome (DS) are independently well-documented, each with distinct developmental trajectories. However, the cooccurrence of ASD in individuals with DS, known as DS-ASD, remains under-researched and poorly understood. Recent findings indicating a higher prevalence of ASD among children with DS challenge prior views that these two conditions are mutually exclusive and emphasize the need for more focused research in this area.
A significant concern is the delay in diagnosing ASD in children with DS compared to their neurotypical peers. Neurotypical children are diagnosed with ASD around the age of three. However, children with DS tend to be suspected of having ASD between the ages of 4-5 and are often not diagnosed until around the age of 10. This delay can result in critical missed opportunities for early interventions, which are most effective at an early age. The delay in diagnosing ASD is multifaceted, involving factors such as overlapping symptoms leading to diagnostic overshadowing, where behaviors typical of ASD are mistakenly attributed to DS; a lack of specialized training among healthcare professionals about DS-ASD cooccurrence; and a lack of ASD screening tools that accommodate the unique presentation of children with DS, often leading to underdiagnosis or misdiagnosis.
Without a timely diagnosis of ASD, children with DS are at risk of exacerbated behavioral problems and increased difficulties in communication and social interactions, impeding their educational and personal development. Addressing these challenges requires increased awareness, early and accurate screening, and tailored interventions to ensure that children receive the support they need on time.
This study adopts a comprehensive approach by integrating insights from both caregivers and healthcare professionals, offering a more complete understanding of the challenges and dynamics within the Canadian healthcare context. The objectives are threefold: 1) Identify the obstacles healthcare practitioners encounter in diagnosing ASD in children with DS; 2) Assess their awareness of DS-ASD cooccurrence; and 3) Examine the experiences of caregivers navigating the diagnostic and care pathways for children with cooccurring DS-ASD.
Project team
- Dr. Julija Atanasova
TRP supervisors
Project advisory committee
- Dr. Jennifer Crowson, President, Canadian Down Syndrome Society
- Dr. Kerry Boyd, Associate Clinical Professor, Department of Psychiatry & Behavioural Neurosciences, McMaster University
- Dr. Rudaina Banihani, Developmental Pediatrician Sunnybrook Hospital; Assistant Professor University of Toronto
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