Public Awareness and Perceptions of Congenital Disabilities in Saudi Arabia: A Cross-Sectional Study

Introduction

Birth defects are structural or functional anomalies that occur during intrauterine life and can be detected at birth, during pregnancy, or afterward.^1–3 Globally, congenital disabilities affect approximately 3% to 6% of infants and contribute significantly to pediatric morbidity and mortality.⁴ The etiology of these conditions is often multiple factors, with genetic, environmental, and behavioral risk factors playing critical roles.⁵ In Saudi Arabia, the prevalence and impact of congenital disabilities are particularly significant, requiring comprehensive public health strategies aimed at prevention and early intervention.^6–8 The importance of public awareness and understanding of congenital disabilities is crucial for the effective prevention and management of these conditions.^9,10 Previous studies have shown that high levels of public knowledge and awareness correlate positively with the engagement in preventive behaviors and the utilization of healthcare services.^11–13 However, regardless of the advancements in healthcare and the availability of genetic counseling and prenatal screening technologies, gaps in public awareness and misconceptions about congenital disabilities persist. These gaps can reduce effective prevention programs and lead to lower outcomes for affected individuals and their families.

Congenital disabilities include a wide range of physical and metabolic anomalies, which can vary from mild to life-threatening.³ Common examples include neural tube defects, Down syndrome, heart defects, limb malformations, and cleft lip and palate.^3,14–17 The incidence of these conditions can be influenced by genetic factors, such as consanguinity, which is particularly prevalent in the Middle Eastern region, including Saudi Arabia.^18–20 The public health implications of congenital disabilities are substantial. They place a great burden on healthcare systems, families, and communities.²¹ Therefore, effective prevention and management of congenital disabilities which involves early detection through prenatal screening, genetic counseling, and the adoption of preventive health behaviors.^22–26 Thus, public awareness and education are essential to encourage these practices. However, the effectiveness of such interventions heavily depends on the level of social awareness and the cultural acceptance of these preventive measures.

In Saudi Arabia, several factors contribute to the public’s perception and knowledge of congenital disabilities.^6,27,28 Thus, it is important to explore the current state of knowledge, awareness, and perceptions regarding congenital disabilities among the Saudi population to identify public health interventions. In addition, cultural perceptions towards disabilities can influence both the stigma associated with these conditions and the engagement in preventive behaviors. The primary objective of this study was to assess the level of awareness, knowledge, and risk perception of congenital disabilities among the Saudi public. Additionally, the study aimed to explore demographic factors such as age, gender, education level, and region of residence as potential influences of public perceptions and knowledge. This understanding could help in shaping public health interventions that are effective and culturally appropriate.

Methods

Study Design and Setting

This cross-sectional study was conducted across various regions of Saudi Arabia, including the Central, Northern, Southern, Western, and Eastern regions between November and December 2024. The study aimed to assess the level of public awareness, knowledge, and perceptions regarding congenital disabilities within the Saudi population. This geographical diversity ensures the study captures a broad display of cultural, socioeconomic, and educational backgrounds, providing a comprehensive overview of the national perspective on congenital disabilities.

Participants and Data Collection Instrument

Participants were recruited using a convenience sampling technique included Saudi nationals aged 18 years and older, able to provide informed consent. The questionnaire was initially developed in English, based on a review of the literature and existing instruments previously validated in similar contexts. To ensure accuracy and consistency, the English questionnaire was translated into Arabic following standard translation and back-translation procedures. This process was conducted by bilingual experts to maintain the accuracy and contextual integrity of the survey items. The questionnaire consist of several sections, including demographic data, awareness of congenital disabilities, knowledge about their causes and preventability, and engagement in preventive practices. The instrument was pilot tested on a small sample to ensure clarity, relevance, and cultural appropriateness, with necessary adjustments made based on feedback.

Questionnaire Administration

Data collection was conducted using Google Forms, which facilitated broader reach and easier access for participants across various regions. This online method allowed participants to complete the questionnaire at their convenience, enhancing the response rate and reducing potential biases associated with face-to-face interviews. The link to the Google Form was distributed via email, social media platforms, and through local community organizations to ensure a wide and diverse participant base.

Ethical Considerations

The study protocol was reviewed and approved by the Biomedical Research Ethics Committee at Umm Al-Qura University (Approval No. HAPO-02-K-012-2024-10-2325) and was conducted in accordance with the principles of the Declaration of Helsinki.

Statistical Analysis, Reliability and Validity

Data analysis was performed using IBM SPSS Version 27. A descriptive statistics were performed to summarize categorical and continuous variables and developed the Congenital Disabilities Awareness and Preparedness Index (CDAPI), which consists of four subdomains: Awareness, Knowledge, Risk Perception, and Engagement in Preventive Practices. Each subdomain was scored based on responses to relevant questions, with total possible scores ranging from 0 to 30 across the index. Comparisons between demographic groups were made using independent t-tests and one-way ANOVA with post hoc LSD tests, as appropriate. A General Linear Model was utilized to identify predictors of CDAPI scores. Statistical significance was considered at p < 0.05. The reliability of the survey instrument was confirmed using Cronbach’s alpha to assess internal consistency. Construct validity was examined through factor analysis to ensure the questionnaire accurately reflected the constructs of awareness, knowledge, and risk perception.

Results

The study surveyed 1,007 participants from diverse demographic backgrounds across various regions in Saudi Arabia, as detailed in Table 1. The demographic distribution included a significant representation from the age groups 25–31 (31.2%) and 32–38 (37.4%), with a slight majority of female participants (55.6%). Education levels varied widely, showcasing a cross-section of the Saudi population. Approximately half of the participants (49.6%) were aware of congenital disabilities (Table 2). Awareness levels ranged from no understanding (11.8%) to excellent (8.3%). The primary perceived contributors to congenital disabilities, as shown in Figure 1, included medication/drug use during pregnancy (51.3%), lifestyle factors such as diet and exercise (49.8%), and environmental factors like pollution (48.0%).

Table 1 Demographics of the Study Participants

Table 2 Participant Awareness and Knowledge of Congenital Disabilities

Figure 1 Perceived Contributors to the Development of Congenital Disabilities Among Study Participants.

Regarding the preventability of congenital disabilities, 38.3% believed they were preventable, while 40.7% did not, and 21.0% were unsure (Table 2). Familiarity with specific types of congenital disabilities varied, with 50.0% familiar with neural tube defects and lower familiarity with other types such as limb deformities (31.3%) (Figure 2). A majority (56.4%) believed that genetic factors could increase the risk of congenital disabilities. However, only 42.5% were aware of genetic screening or counseling services available in Saudi Arabia (Table 3). Regarding personal consideration of genetic counseling, 43.2% were in favor if there was a family history of congenital disabilities.

Table 3 Public Awareness of Genetic and Pharmacological Factors Related to Congenital Disabilities

Figure 2 Public Familiarity with Different Types of Congenital Disabilities.

Participants showed moderate awareness of the pharmacological risks associated with fetal development, with 46.5% acknowledging that certain medications could impact fetal development. Despite this awareness, only 44.3% were aware of specific medications that should be avoided during pregnancy (Table 3). Engagement varied, with 50.9% aware of the benefits of folic acid and 48.0% willing to consider lifestyle changes to prevent congenital disabilities. Consulting a healthcare provider before taking any medication during pregnancy was considered by 42.4% of respondents (Figure 3). Awareness correlated positively with knowledge, whereas risk perception showed negative correlations with both awareness and knowledge. Engagement in preventive practices correlated positively with risk perception (Table 4). The most acknowledged effective strategies for preventing congenital disabilities included avoiding harmful medications, improving environmental conditions, and making healthy lifestyle choices, as detailed in Figure 4.

Table 4 Correlations Between Subdomains of the Congenital Disabilities Awareness and Preparedness Index

Figure 3 Perceptions of Risk Associated with Medications and Substances During Pregnancy.

Figure 4 Public Perceptions of Effective Strategies to Prevent Congenital Disabilities.

The mean scores for the subdomains of awareness, knowledge, and risk perception indicated moderate levels, while Engagement in preventive practices scored the lowest, suggesting room for improvement. The overall CDAPI score was 15.41 ± 3.3, with 52.3% of participants categorized as having low awareness and preparedness (Table 5). Age significantly influenced risk perception and engagement in preventive practices (Table 6). The General Linear Model analysis identified age as a significant predictor of CDAPI scores, particularly for participants aged 25–31 and 32–38 (Table 7). The data reveals significant relationships for certain age groups (ages 25–31 and 32–38), while other demographic factors like gender and having children showed no significant impact (Table 8).

Table 5 Summary of Subdomain Scores and Overall Congenital Disabilities Awareness and Preparedness Index

Table 6 Demographic Influences on Subdomain Scores of the Congenital Disabilities Awareness and Preparedness Index

Table 7 General Linear Model Analysis of Predictors for the Congenital Disabilities Awareness and Preparedness Index Scores

Table 8 Parameter Estimates for Demographic Predictors of Scores

Discussion

This study showed a detailed examination of public awareness, knowledge, and preventive behaviors relating congenital disabilities in Saudi Arabia. By surveying 1,007 participants from different demographics. The findings revealed that moderate awareness does not necessarily translate into adequate knowledge or engagement in preventive practices. It was found that only 8.3% of respondents had an excellent understanding of congenital disabilities, underlining a critical gap in health education within the Saudi population. Although nearly half the participants recognized the term “congenital disabilities”, their understanding does not extend beyond basic awareness. These points emphasize the need to enhance educational programs that not only elevate awareness but also expand understanding of congenital disabilities focusing on the causes, consequences, and preventive measures. In fact, studies have shown that effective educational strategies should be embedded within the local cultural context and utilize culturally appropriate messaging to effectively engage diverse demographic groups.^26,29,30 Therefore, improving educational content to address specific misconceptions and knowledge gaps in this study could help in significantly improving overall health literacy regarding congenital disabilities.

The difference between awareness and engagement in preventive practices could be attributed to several factors, including uncertainties about the effectiveness of preventive measures, inadequate access to genetic counseling and prenatal care, or prevalent cultural beliefs that may prevent proactive health behaviors. For example, although a significant number of participants acknowledged genetic factors as risks for congenital disabilities, less than half were aware of available genetic counseling services. This indicates substantial barriers to accessing or utilizing genetic services, suggesting a pressing need for public health initiatives that enhance service accessibility and public knowledge about these resources. Studies on access barriers to genetic services have highlighted multiple challenges. For instance, it has been reported that non-genetic healthcare professionals often lack awareness of genetic risk factors, adequate family history collection, and knowledge about genetics and genetic services, leading to inadequate referrals and mismanagement of patient care.³¹ Also, affected individuals or those at risk often face personal barriers such as a lack of awareness of their own genetic risks, limited knowledge of their medical history, and insufficient awareness of available genetic services.³² Furthermore, institutional barriers include issues such as coordination of care and insufficient genetic workforce, delaying efficient service delivery.³² Overcoming these barriers requires targeted interventions to enhance the genetic competence of healthcare providers and public awareness of genetic conditions and services, supporting equitable access to genetic services across various populations.

The influence of demographic variables such as age and parenting status on awareness and engagement levels is great. Younger individuals and those without children show lower risk perception and engagement in preventive practices. In fact, it has been reported that mass media campaigns can benefit from incorporating interpersonal communication, which helps in tailoring messages to specific audiences, potentially increasing engagement and awareness among these groups.³³ Furthermore, it has been suggested that tailoring health messages to specific demographic groups can enhance their relevance and effectiveness. This emphasis that tailored interventions can be particularly effective in influencing behavior change.³⁴ Thus, highlighting the importance of targeted health communication strategies that specifically address groups less likely to engage with generic health messages, such as younger individuals and those without children. Therefore, to increase efficacy, strategies such as incorporating congenital disability education into school courses and utilizing digital media platforms popular among younger demographics which could potentially increase reach and efficacy. Additionally, family-oriented educational programs that offer information on congenital disabilities as part of prenatal care could engage potential and new parents more effectively. Therefore showing the importance of tailored messages, which consider individual characteristics and situational contexts, can significantly enhance the relevance and impact of health communications, thereby improving engagement and preventive behaviors in targeted demographics.³⁵

Cultural perceptions and social stigma associated with disabilities significantly influence public engagement with preventive practices.³⁶ In settings where disabilities might be stigmatized or misunderstood, individuals could be tentative to seek information or support for fear of social repercussions.³⁷ Initiatives that utilize community influencers to alter perceptions and encourage open discussions about congenital disabilities and their prevention could be highly effective in overcoming these cultural barriers.^38,39 Such community driven approaches can further greater acceptance and reduce stigma, making preventive practices more widely accepted.

The study’s findings highlight a crucial need for policies supporting comprehensive public health education and enhanced prenatal care services that include genetic counseling and screening. Therefore, health policies should focus on integrating preventive care into primary health services, ensuring that knowledge and access to preventive measures are available across all population.^40,41 Thus, creating encouragements for healthcare providers to participate in public education and outreach efforts, to ensure that accurate information about congenital disabilities reaches the widest possible audience.

Nonetheless, further researches are needed to explore the specific barriers to engagement in preventive practices and to assess the effectiveness of different educational interventions across Saudi Arabia. Longitudinal studies could provide better understandings into how changes in public awareness and behavior might be achieved over time and how these changes impact the prevalence and management of congenital disabilities. Additionally, qualitative research could explore individual and community perceptions in more depth, providing deeper understanding of the cultural and social dynamics that influence health behaviors related to congenital disabilities.

Conclusion

This study highlighted a significant gap between awareness and practical engagement in preventive health behaviors concerning congenital disabilities in Saudi Arabia. Although there is moderate awareness, there is a clear lack of comprehensive knowledge and active engagement, influenced by demographic, cultural, and systemic factors. Bridging this gap requires concerted efforts from all relevant groups to implement educational and health service improvements that are culturally relevant and accessible to all segments of the Saudi population. By addressing these issues, it is possible to enhance the overall health outcomes and reduce the burden of congenital disabilities across the country.