12 Diagnosing autism in children with down syndrome: Caregivers' perspectives

Abstract Background Autism Spectrum Disorder (ASD) is more common in individuals with Down Syndrome (DS) than in the general population, with prevalence rates as high as 41%. Diagnosing ASD in children with DS is challenging, often resulting in delays and missed opportunities for early intervention. While research has primarily focused on the clinical complexities of diagnosing ASD in this population, far less attention has been given to the experiences of caregivers, whose perspectives offer valuable insights into the diagnostic process. Objectives The purpose of this study is to explore the diagnostic journeys of caregivers of children with DS diagnosed with ASD. The goal is to identify the challenges and needs of these families, the barriers they encounter within the healthcare system, and how ASD symptomology presents in their children. Design/Methods This study used a cross-sectional mixed-methods design. Quantitative data were collected through anonymous electronic structured survey (n=21), and qualitative data from semi-structured interviews (n=11) conducted over Zoom, audio-recorded, and transcribed verbatim. Participants were caregivers of children under 18 with confirmed DS-ASD diagnoses, recruited through Down syndrome associations across Canada. Survey responses were analyzed using descriptive statistics, and interview data underwent inductive thematic analysis. Data were collected from March to June 2024, after ethical approval. Results Participants were primarily from Ontario (86%), with smaller groups from British Columbia and Alberta. Caregivers described confusion throughout the diagnostic process, feeling "lost in the system" and "repeatedly dismissed" by healthcare professionals. Most said their concerns were "not taken seriously," with behaviors frequently attributed as “normal” or “typical” for a child with DS. For most, ASD diagnosis brought emotional relief, helping them understand their child’s behaviors, but faced challenges accessing tailored interventions for DS-ASD. Quantitative data showed the mean age of ASD symptom onset was 2.76 years (SD = 1.73). Diagnoses occurred between 3 and 12 years, with a median age of 6. Most diagnoses were delayed by about four years; however, some children were diagnosed by age 4, these were children with a family history of ASD or intellectual disability, early regression, and had access to specialized centers. Common early ASD symptoms included repetitive behaviors (100%), speech delays/regression (90.5%), and sensory sensitivities (62%). Conclusion The findings highlight the need for greater awareness, specialized training, and tailored interventions addressing both DS and ASD. Caregivers' concerns should be validated and incorporated into decisions about early ASD assessments. The four-year average delay in diagnosis, along with symptom profiles, aligns with published literature.