Caregiver perspectives and evolving trends in the diagnosis and management of Down syndrome

Objectives: Down syndrome (DS), although the most common chromosomal disorder globally, yet there is limited data from India on caregiver experiences and evolving healthcare landscapes. The objectives of the study are to evaluate diagnostic trends, parental emotional responses, counseling experiences, and caregiver expectations among families of children with DS attending a tertiary care center. Material and Methods: A cross-sectional survey was conducted among 53 families participating in a DS Day event at a tertiary care genetic center. Data on age at suspicion and diagnosis, emotional reactions, counseling experiences, access to DS clinics, sources of information, and caregiver expectations were collected and analyzed. Results: An encouraging trend toward earlier diagnosis was observed, with 43% of children under 5 years being diagnosed soon after birth compared to only 8% in those over 11 years. However, a significant proportion still experienced delayed diagnosis beyond infancy, potentially impacting early surveillance and intervention. Emotional adaptation was evident across age groups, with parents reporting pride, acceptance, and love despite initial sadness or anxiety. Counseling experiences varied by provider type, with geneticists offering more comprehensive though sometimes overwhelming information. Only 44% of families had accessed a dedicated DS clinic, highlighting gaps in awareness and availability. Caregivers relied mainly on hospitals and support groups for information and expressed key expectations across four domains: Specialized clinics, ongoing guidance, social support, and inclusion in education and employment. Conclusion: This study reflects a positive shift toward earlier diagnosis and growing emotional resilience among caregivers. Nonetheless, critical gaps remain in timely diagnosis, access to multidisciplinary clinics, standardized counseling, and long-term support. There is a pressing need for integrated care models and public health strategies to improve awareness, early identification, and comprehensive support for individuals with DS and their families.