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

INTRODUCTION

Down syndrome (DS), also known as trisomy 21, is a genetic condition caused by the presence of an extra copy of chromosome 21. According to a 2021 report, approximately 30,000–35,000 children are born with DS in India each year.^[1] Individuals with DS typically present with intellectual disability of varying degrees, congenital heart defects, and other systemic abnormalities. They are at increased risk for a range of medical complications, including vision and hearing impairment, obstructive sleep apnea, hematological disorders, and early-onset dementia which significantly affects their quality of life and thereby necessitates specialized, lifelong healthcare.^[2]

Medical advances have significantly improved the life expectancy of individuals with DS in recent decades. However, more than a quarter of individuals over 30 years of age, and the majority after 60 years, experience progressive cognitive decline and reductions in independence and communication skills.^[3] This leads to a prolonged burden on caregivers and healthcare systems.

Individuals with DS also face numerous societal challenges. Limited employment opportunities and difficulties in maintaining self-care increase their dependence on caregivers. Most caregivers, especially parents, experience chronic psychological stress, with a higher risk of poor mental health outcomes, including anxiety and depression.^[4] In addition to the emotional toll, caregiving often imposes a significant socioeconomic burden. Nonetheless, several studies have also highlighted positive aspects of parenting a child with DS, including strengthened family bonds and enhanced appreciation of life.^[5]

The 21^st century has witnessed remarkable developments in prenatal screening technologies, resulting in increased antenatal detection of DS. Although awareness and understanding of DS are gradually improving in India, substantial gaps remain in ensuring inclusive support, early intervention, and long-term care. This was aptly reflected in the theme of this year’s World DS Day^[6]: “End the stereotypes and improve support systems.”

In this context, the present study aims to explore the knowledge, attitudes, and practices of caregivers of individuals with DS – both at the time of diagnosis and in the current caregiving scenario – in the evolving healthcare and societal landscape of 21^st-century India.

MATERIAL AND METHODS

This cross-sectional study was conducted in the Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, on the occasion of World DS Day, March 21, 2023. A total of 53 families of individuals with DS who attended the departmental awareness and counseling event were included in the study.

Caregivers in this study were defined as the legal guardians of individuals with DS – primarily parents, but also including siblings or close relatives actively involved in caregiving. Informed consent was obtained from all participants before inclusion.

Data were collected using a printed, semi-structured questionnaire developed by the research team and piloted on a small subset of caregivers to ensure clarity and relevance. Basic demographic details were documented. Socioeconomic status of the guardians was assessed based on the modified Kuppuswamy scale. The final version comprised 17 items covering four domains:

1. Medical knowledge about DS

2. Emotional responses and adjustment at the time of diagnosis and currently

3. Perceptions toward their own and other individuals with DS

4. Expectations from society (education, employment, inclusion, and support).

The questionnaire was available in both English and Hindi. Responses were collected anonymously to ensure confidentiality.

Data were analyzed using both quantitative (descriptive statistics such as frequencies and percentages) and qualitative methods, with thematic analysis of open-ended responses to identify common themes and caregiver concerns.

As this was conducted as part of an awareness event and involved minimal risk, formal Institutional Ethics Committee approval was not obtained; however, all participants were informed about the voluntary nature of participation and the confidentiality of responses.

RESULTS

A total of 53 families of children with DS participated in the study by completing a structured questionnaire. Among the affected individuals, 56.6% (30/53) were male and 43.4% (23/53) were female. The majority of families (77.3%) belonged to the upper-middle socioeconomic class, followed by 18.9% from the upper class. Most participants (62.3%; 33/53) lived in joint family settings, while the remaining resided in nuclear families.

To assess trends in diagnosis and evolving caregiver perspectives, participants were stratified into three age groups: <5 years, 5–11 years, and more than 11 years. The largest proportion of responses came from parents of children under 5 years of age, reflecting either increased diagnosis or greater engagement with recent support systems.

Age at first suspicion of DS

First suspicion of DS was made by a pediatrician in 83% of cases. The suspicion most commonly arose either just after birth (36%) or after 1 year of age (36%). Most families sought medical consultation initially for fever and infections.

Age-wise analysis revealed that in children aged >11 years, 50% were first suspected after 1 year. This reduced to 33% in the 5–10-year group and to 30% in <5 years, suggesting an improving trend in early clinical suspicion. Suspicion within the 1^st year of life (<5 years: 44%, 5–10 years: 22%, 11 years: 0%) and parental suspicion of abnormality before consultation increased significantly over time (<5 years: 58.3%, 5–11 years: 55.5%, 11 years: 33%) [Figure 1].

Close

Figure 1:

Age at (a) First suspicion, (b) Confirmation of Down syndrome according to age categories <5 years, 5–11 years, >11 years.

Export to PPT

Sources of information on DS

Hospitals were the primary source of additional information about DS for most caregivers (62.3%; 33/53). A considerable proportion also obtained information from DS support groups (35.8%; 19/53) and the internet (32%; 17/53). Traditional media and social platforms were less frequently used, with only 5 respondents citing books, 2 citing WhatsApp, and 1 referring to newspapers as sources of information [Figure 2].

Close

Figure 2:

Sources of information obtained by caregivers of Down syndrome according to age categories.

Export to PPT

Parental feelings toward their child with DS

Parents across all age groups expressed overwhelmingly positive emotions toward their children with DS. Feelings of pride, acceptance, and love were commonly reported, with many parents stating they had no regrets and felt no embarrassment regarding their child’s condition. A significant number described their children as caring and capable, reflecting strong emotional bonding and positive recognition of their child’s abilities.

Interestingly, these sentiments were consistently observed in both parents of younger children and those of older children, suggesting that positive perceptions emerge early and continue as the child grows. This trend highlights a sustained emotional adaptation and growing confidence in the child’s potential over time. There do not appear to be major differences in these parental perceptions even based on the gender of the child with DS [Figure 3].

Close

Figure 3:

Perception of parents toward children with Down syndrome according to age categories. DS: Down syndrome

Export to PPT

Parental outlook toward life

Caregivers of children with DS shared a diverse range of emotional and psychological responses that shaped their outlook on life. Many parents, across both younger and older age groups, reported experiencing increased positivity and a deepened sense of gratitude, indicating that raising a child with DS had brought meaningful emotional growth and appreciation for life’s smaller joys.

A significant portion of parents also mentioned developing greater tolerance and emotional resilience, particularly in the early years following the child’s diagnosis. However, alongside these strengths, many caregivers admitted to an underlying and persistent anxiety about the future, regardless of the child’s current age.

While a number of parents embraced diversity and individual differences, some caregivers continued to struggle with fully appreciating these differences, highlighting the need for ongoing support and societal awareness [Figure 4].

Close

Figure 4:

Parental outlook toward life according to age categories.

Export to PPT

Most caregivers reported that having a child with DS did not negatively impact family relationships. This perception was observed across both younger and older age groups, suggesting that families tend to adapt well over time and maintain a sense of cohesion.

Expectations of caregivers from healthcare providers and society

Expectations of caregivers of individuals with DS were broadly categorized into four main areas. The most common expectation, cited by 14 caregivers, was the need for dedicated clinics and better management facilities for DS. This was followed by the need for information and guidance (20 responses), including 10 caregivers seeking long-term care guidance, 8 requesting regular updates and accessible information, and 2 specifically asking for research updates in DS. Another key area was peer and social support, mentioned by 10 caregivers, including 7 highlighting the importance of support group activities and 3 emphasizing the need for broader social support. Finally, financial and educational inclusion was noted by 8 caregivers, with 2 requesting job opportunities for individuals with DS, 1 seeking financial support, 1 expecting access to regular schooling, and 4 underlining the importance of therapies like physiotherapy [Figure 5].

Close

Figure 5:

Expectations of caregivers from healthcare providers and society. DS: Down syndrome

Export to PPT

DISCUSSION

This study offers valuable insights into the evolving trends in diagnosis, parental experiences, and caregiver expectations for children with DS in a tertiary care setting. Among the 53 participating families, a progressive improvement was observed in early clinical suspicion and diagnostic timing. While half of the children above 11 years were first suspected of having DS after 1 year of age, this proportion declined to 30% among children under 5 years, reflecting growing clinical awareness. In addition, the number of children diagnosed shortly after birth increased from 8% in the >11-year group to 43% in the <5-year group, likely due to improved neonatal assessments and greater access to cytogenetic testing.^[7] But still, the situation is very far from the expectation of breaking the news at birth and confirming diagnosis before 1 month of age which is necessary for surveillance for serious birth defects and for starting early intervention. The increasing role of clinical geneticists and genetic counselors in the diagnostic process over time has also contributed to more accurate and timely diagnoses, along with improved adherence to genetic counseling recommendations.^[8]

The emotional responses of parents at the time of diagnosis predominantly included sadness and anxiety. However, a strong pattern of emotional adaptation was evident across all age groups. Most caregivers reported experiencing positive emotions such as pride, love, and acceptance as their child grew, reflecting a resilient and enduring parent–child bond. This transition from distress to strength aligns with prior studies that emphasize the capacity for positive emotional growth in families of children with DS.^[9,10]

Despite improvements in diagnostic services, experiences with counseling showed significant variation depending on the type of healthcare provider. Our previous study showed that families with a child with DS are poorly informed of the condition.^[11] In this study, fewer than half of caregivers (43%) reported that the information provided at the time of diagnosis was completely sufficient. This finding underscores the importance of empathetic and standardized genetic counselling across healthcare providers, as the quality of counselling significantly influences caregiver understanding, adherence to medical recommendations, and overall satisfaction with care.^[12]

Access to dedicated DS clinics remained limited, with over half of the caregivers having never attended one. However, those who attended such clinics had a positive experience. The heterogeneous phenotype and complex health needs of children with DS necessitate regular and multidisciplinary follow-up, as emphasized in the American Academy of Pediatrics’ clinical report on health supervision.^[13] Dedicated DS clinics staffed by multidisciplinary teams have been shown to improve both parental satisfaction and the overall quality of care.^[14] Expansion of such clinics and increased awareness among caregivers about their utility is essential.

Awareness and education remain critical components in caregiver support. Hospitals were the main source of information about DS, while support groups and online resources also played a role. Traditional media, books, and social platforms were infrequently used, possibly due to limited accessibility or lack of targeted content. These findings suggest a need for structured, reliable, and accessible educational resources, particularly through clinical interfaces and caregiver networks.

Caregivers’ emotional perceptions toward other children with DS reflected a complex blend of empathy, hope, and optimism, with some drawing comfort from observing their own child’s relatively better progress. This psychosocial growth was often accompanied by a positive outlook on family life and relationships, although persistent concerns about the child’s future – especially in areas such as education, employment, and independence – were common. Effective coping strategies, bolstered by social support systems, are known to improve outcomes for caregivers of children with DS.^[15,16]

Caregivers articulated several expectations from the healthcare system and society. The most prominent was the need for dedicated clinics and specialized management services. This was followed by a desire for updated and practical information about long-term care. Many also emphasized the importance of peer and community support, requesting opportunities for group activities and broader societal understanding. In addition, financial and educational inclusion, including therapy access, schooling, and job opportunities, was voiced by several caregivers. These findings resonate with global studies that emphasize the importance of holistic care frameworks in improving long-term functioning and quality of life in individuals with DS.^[17,18]

CONCLUSION

Advancements in the diagnosis and management of Down syndrome reflect meaningful progress in both clinical practice and caregiver preparedness. However, true equity in care will be achieved only when early diagnosis is consistently paired with accessible multidisciplinary services and sustained psychosocial support. Moving forward, a coordinated and compassionate approach—anchored in policy, education, and community engagement—will be essential to improve quality of life for individuals with Down syndrome and their families.