Needs and gaps in services provided for children with Down Syndrome in Yerevan, Armenia. Perspectives of parents and healthcare providers: a qualitative research

Abstract

Down syndrome (DS, trisomy 21, Ts21) is known as one of the most common causes of mental disability. The estimated worldwide incidence of DS is from 1 in 1,000 to 1 in 1,100 live births. Comprehensive health care and continuous medical supervision of children with DS (CWD) are the major factors influencing the health and developmental outcomes of these children. Literature evidence suggests a lack of appropriate counselling, special healthcare, developmental and educational support, presence of economic/financial barriers, and stigmatization as factors which negatively influence CWD and their families' adjustment. There is no official published statistical information about the rates of DS in Armenia. DS's genetic diagnostics and counselling are only available at the Center of Medical Genetics and Primary Healthcare in Yerevan. According to the data obtained from this center, from 2013 to 2017, a total of 148 infants were diagnosed with DS through post-natal genetic testing. Unfortunately, available data do not reflect the real situation in terms of prevalence or care for CWD in Armenia. Moreover, there is a significant gap in medical, sociodemographic, and disease burden data regarding CWD, a formidable barrier to informed decision making by stakeholders. This qualitative study aimed to explore the gaps in care, healthcare needs, and barriers to appropriate care provided to CWD from the perspectives of parents and healthcare providers of CWD in Yerevan, Armenia. Data was collected through a focus group discussion (FGD), semi-structured in-depth interviews (IDI), and key informant interviews. The study participants were selected by purposive sampling technique and included: primary care pediatricians from Yerevan policlinics (specifically those who have at least one child with DS 1-17 years of age under their supervision), neonatologists from maternity hospitals, mothers of CWD, and field-experts (a developmental pediatrician and a pediatric health policymaker). Four IDI and one FGD field guides were developed using the Socioecological Model of Health and based on literature review, then translated into Armenian. Data collection continued until the saturation was reached. Conventional content analysis was done using deductive approach. The study gave a comprehensive understanding of healthcare and social support needs of CWD and their families in Armenia. According to the study findings, initial reactions at the time of DS diagnosis disclosure, mostly defined as denial, stress, and shock experienced by mothers, were closely linked to the way by which the diagnosis was delivered to parents. Mothers reported insufficient and inadequate medical counselling provided to them. The current practices of healthcare and supervision of CWD in Armenia significantly differed from those internationally accepted. The study findings suggested a lack of coordinated and sustainable social support services and limited access to developmental and educational programs for CWD in Armenia. The role of government was perceived critical for future enhancement and provision of quality care for CWD. As a first step in this direction, it was recommended to obtain statistical data on the overall prevalence and incidence of DS in Armenia. Further, developing medical guidelines for health supervision of CWD and establishing national DS registry through the integration of international DS foundations was recommended. The need to organize trainings of first-contact providers (PHC pediatricians and neonatologists) on appropriate medical counselling of families of CWD was acknowledged. Finally, it was recommended to support CWD and their families via coordinated social support services tailored to the real needs of their beneficiaries.