810 - Challenges in Diagnosing Autism in Children with Down Syndrome: Insights from Healthcare Professionals Across Regions

Publication Number: 810.4498

Gabriel Anzueto, McGovern Medical School at the University of Texas Health Science Center at Houston, Houston, TX, United States; Julija Atanasova, The Hospital for Sick Children, toronto, ON, Canada

Background: Diagnosing autism in children with Down Syndrome (DS) presents unique challenges that require flexible, context-sensitive approaches. Standard autism diagnostic tools are often not tailored to the developmental profile of children with DS, and regional differences - such as disparities in healthcare resources and cultural perceptions of disability - further complicate diagnosis. This study addresses the need for autism diagnostic resources that are adaptable to varying healthcare contexts and cultural expectations, promoting early diagnosis for children with DS.

Objective: To examine autism diagnostic practices and challenges among healthcare professionals working with individuals with DS across diverse regions.

Design/Methods: Cross-sectional survey study design; invited licensed healthcare professionals from Canada and internationally to participate. Data were collected electronically and anonymously via REDCap, using a structured survey, disseminated through professional associations and social media groups Mar-Sep 2024. Eligibility included healthcare professionals who provide care for children under 18 with DS. Quantitative data were analyzed using descriptive statistics to identify patterns across regions. Open-ended questions underwent inductive thematic analysis.

Results: Received 196 responses: 127 from North America (Canada-114; U.S.-13) and 69 from 16 countries across Europe, the Middle East, Africa, and Asia.
Barriers to ASD screening were identified as systemic, role-specific, and logistical. Major challenges included a lack of training and restrictive policies. Access to appropriate screening tools was challenging for 20% of respondents (primarily in Europe), and 13% cited parental resistance as a barrier. Respondents in Egypt, Ethiopia, and Sudan reported resource limitations and lack of familiarity with tools.
Professionals seeing children with DS more frequently (e.g., weekly) were more likely to conduct regular autism screenings. The most commonly used tools were the Modified Checklist for Autism in Toddlers and the Ages and Stages Questionnaires.
Adherence to recommended AAP screenings at 18 and 36 months was highest in North America. Professionals in Singapore, Kuwait, India, and other regions often used symptom-driven screening based on developmental concerns; Canadian practitioners relied on parental or caregiver observations.

Conclusion(s): Findings highlight the need for autism diagnostic resources that address not only the unique phenotypic presentation of autism in DS but should also account for regional disparities in resources, cultural perceptions, and lack of awareness.