Prevalence and associated factors of clubfoot in the eastern province of Saudi Arabia: A hospital-based study

Abstract

BACKGROUND

Clubfoot, or congenital talipes equinovarus, is a widely recognized cause of disability and congenital deformity worldwide, which significantly impacts the quality of life. Effective management of clubfoot requires long-term, multidisciplinary intervention. It is important to understand how common this condition is in order to assess its impact on the population. Unfortunately, few studies have investigated the prevalence of clubfoot in Saudi Arabia.

AIM

To determine the prevalence of clubfoot in Saudi Arabia via the patient population at King Fahad University Hospital (KFUH).

METHODS

This was a retrospective study conducted at one of the largest hospitals in the country and located in one of the most densely populated of the administrative regions.

RESULTS

Of the 7792 births between 2015 to 2023 that were included in the analysis, 42 patients were diagnosed with clubfoot, resulting in a prevalence of 5.3 per 1000 live births at KFUH.

CONCLUSION

The observed prevalence of clubfoot was significantly higher than both global and local estimates, indicating a substantial burden in the study population.

Key Words: Clubfoot, Talipes equinovarus, Congenital talipes equinovarus, Prevalence, Saudi Arabia

Core Tip: Clubfoot, or congenital talipes equinovarus, is a congenital deformity with global impact, but comprehensive prevalence data for Saudi Arabia are lacking. This study at King Fahad University Hospital aimed to address this gap by analyzing 7792 births that occurred between 2015 and 2023. The analysis revealed a prevalence of 5.3 per 1000 live births, which is higher than global estimates and indicates a substantial burden. The findings emphasize the urgency of targeted interventions to address clubfoot in the Eastern Province of Saudi Arabia.

INTRODUCTION

Congenital talipes equinovarus (CTEV), often called clubfoot, is a congenital condition characterized by cavus, adductus, varus, and equinus deformities of the leg. CTEV was first observed by Hippocrates in 300 BC[1]. It is one of the most frequently encountered foot abnormalities, and it can be seen immediately after birth[2]. CTEV patients have been known to have certain tibial and tarsal bone anatomical abnormalities, including mispositioned tarsal bones that result in high metatarsal bone flexion, increased planter arch curvature, equines foot with inverted, adducted calcaneus due to posteromedial foot ligament contracture, calf muscle atrophy, and foot shortening. There are no histologic or electric abnormalities[3,4]. In 80% of cases, it presents by itself as an isolated malformation. It may present as syndromic CTEV secondary to other congenital anomalies such as spina bifida (myelomeningocele), arthrogryposis, or dystrophic dwarfism. That increases the risk of morbidity, mortality, and resistance to treatment[5,6].

CTEV can be a bilateral or unilateral deformity, with the right leg more commonly affected[2]. Despite extensive epidemiological, clinical, and basic science research, the etiology of club foot remains unclear. Most of investigations suggest a genetic component is involved, but that is inconsistent with the Mendelian inheritance pattern. Several studies have observed that CTEV was associated with deletion of CASP10, an apoptosis regulatory gene on chromosome 2 (2q31-33)[7]. Other suggested causes include abnormalities of joint and/or bone formation, uterine restriction (oligohydramnios), and neurological and vascular abnormalities that occur in the second trimester of pregnancy[1,8]. Numerous studies have reported male sex, maternal age, maternal smoking, maternal marital status, maternal education, and maternal diabetes as associated with increased risk of CTEV[9].

Classification of CTEV is essential to score the severity of CTEV at birth and to assess the outcome of treatment. While several classification systems have been developed in the last 50 years[10], the Dimeglio scale and Pirani score are the most commonly used clinical systems to assess the severity of CTEV[11]. Prognosis depends on associated conditions but is generally excellent for cases of isolated CTEV[12]. Conservative nonsurgical treatments include manipulation and casting. Surgical techniques include soft tissue release and bone procedures[11]. However, conservative management is widely accepted due to the high risk of post-surgical complications[12]. Conservative treatments include the Kite method, physiotherapy, and the Ponseti method. The Ponseti method has recently been recognized as the most effective treatment with minimal complications in both isolated and syndromic cases, including idiopathic or syndromic comorbidities[6,11]. Inadequate treatment of CTEV can lead to lifelong disabilities, chronic pain, and limited opportunities for education and employment[13], King Faisal street[14].

The incidence and prevalence of CTEV vary with race and ethnicity. Globally, there are 0.6-1.5 cases of CTEV per 1000 live births per year, with a total of 150000 infants being affected annually. CTEV is thus one of the most common birth defects in children. Bilateral CTEV occurs in approximately 50% of cases, with a male-to-female ratio of 2:1[4,15,16]. Kruse et al[17] described the sex difference as the Carter effect, with girls having more predisposing genes than boys and the ability to transmit them to their offspring. About 80% of CTEV cases have been reported in low-middle income countries[2] and CTEV is estimated to affect 2.3/1000 (0.23%) of Saudis visiting King Saud Medical City[18]. In order to understand the impact and burden of CTEV on the population, it is important to determine its prevalence. Unfortunately, few studies have been conducted on the prevalence of CTEV in Saudi Arabia.

This study investigated the prevalence of CTEV in the Eastern Province of Saudi Arabia, with a specific focus on King Fahad University Hospital (KFUH). The goal was to better understand the prevalence of this condition in this country. The findings of the study increase the understanding of CTEV and can help guide future interventions and healthcare planning.

MATERIALS AND METHODS

Data was collected from patient medical profiles in the QuadraMed system (QuadraMed Corp., Plano, TX, United States) and the database at the KFUH Orthopedic Department.

Study setting/subject

The research was carried out at KFUH. With a capacity of 540 beds, it is the largest university hospital in the Eastern Province of Saudi Arabia. Saudi patients of both sexes who were diagnosed with CTEV between 2015 and 2023, had medical records with complete diagnostic and patient information, and were 0-5 years of age, were eligible to participate in this study. We conducted a comprehensive evaluation that included all instances of isolated CTEV as well as those accompanied by additional idiopathic or syndromic comorbidities.

Study design

This was a retrospective, descriptive, cross-sectional study. This design was chosen because its analytical data capabilities suit the purpose of this study.

Sampling technique

The sample was assessed by examining medical files included in a list provided by the orthopedic department’s database and the QuadraMed program at KFUH. There were 42 cases of CTEV, 38 of which had been born in the hospital. Four cases had been born in the Maternal and Child Hospital, which is a part of the University Hospital and is located near the main building. Thirty-nine of the cases were diagnosed clinically by physical examination and three were identified by prenatal ultrasonography. The diagnosis was primarily by physical examination that identified CTEV deformities including midfoot cavus, forefoot adduction, and hindfoot equinus and valgus.

Data collection

Following approval by the hospital’s Institutional Review Board, the required data were obtained from medical files by a medical student who was supervised by two orthopedic physicians from KFUH.

Data management

The study results were reported as frequencies and percentages and the analysis were performed with Statistical Package for the Social Sciences version 20 (IBM Corp., Armonk, NY, United States).

RESULTS

Patient characteristics

A total of 7792 births at KFUH between 2015 and 2023 were included in the analysis. CTEV was diagnosed in 42 children, resulting in a prevalence of 5.3 per 1000 live births. The male-to-female ratio was 2.23:1.00 with 69% male and 31% female patients. The epidemiological description of CTEV was obtained from data on these 42 cases that was collected by the Orthopedics Department at KFUH. Table 1 describes the characteristics of the patients and Table 2 lists the associated medical conditions. Stacked bar charts in Figure 1 were used to outline the frequencies of idiopathic and non-idiopathic CTEV from 2016 to 2022. There were no cases in 2015 and 2023.

Figure 1 Distribution of cases per year from 2016 to 2022.

Table 1 Characteristics of patients seen in the pediatric orthopedic clinic at King Fahad University Hospital, n (%).

Characteristic	Total, n = 42
Sex
Male	29 (69.0)
Female	13 (31.0)
Clubfoot
Bilateral	27 (64.3)
Unilateral	15 (35.7)
Right	8 (19.0)
Left	7 (16.7)
Developmental dysplasia of the hip
Yes	4 (9.5)
No	38 (90.5)
Maternal history of chronic disease
Diabetes mellitus	1 (2.4)
None	41 (97.6)

Table 2 Associated medical condition of patients seen in pediatric orthopedic clinic at King Fahad University Hospital, n (%).

Associated medical condition	Total, n = 42
Arthrogryposis	3 (7)
Hydrocephalus	3 (7)
Myelomeningocele	3 (7)
Undescended testicle	2 (4)
Sacrococcygeal teratoma	1 (2)
Spina bifida	1 (2)
Congenital insensitivity to pain syndrome	1 (2)
None	28 (67)

Analysis of the related factors

A multiple regression analysis was conducted to examine the association of various demographic and clinical parameters and the occurrence of CTEV. The outcomes revealed several significant predictors. Initially, the presence of maternal chronic illness (β coefficient = 0.02 and P = 0.45) and familial predisposition to CTEV (β coefficient = 0.08 and P = 0.29) were not significantly predictive. Developmental dysplasia of the hip (DDH) (β coefficient = 0.31 and P < 0.001) was significantly predictive of CTEV. In particular, CTEV occurrence was estimated to be 2.5-fold more likely in individuals with DDH than in those without DDH. Regarding the sidedness of CTEV, bilateral manifestation was significantly associated with the presence of DDH (β coefficient = 0.22 and P = 0.003). In addition, DDH was significantly associated with unilateral CTEV (β coefficient = 0.18 and P = 0.012). In the cohort presenting with associated ailments, arthrogryposis, hydrocephalus, myelomeningocele, undescended testicle, sacrococcygeal teratoma, spina bifida, and congenital insensitivity to pain syndrome, all emerged as noteworthy and significant prognosticators of CTEV onset, with varying β-coefficients and corresponding P values. Furthermore, the collective presence of these associated maladies explained a substantial proportion of the variance observed in CTEV occurrence (R² = 0.45, F_8,33 = 12.54, P < 0.001).

DISCUSSION

CTEV, or clubfoot, is one of the most common causes of disability and congenital deformity worldwide, and it significantly impacts quality of life. CTEV management requires long-term multidisciplinary intervention. Determining the prevalence of this condition is crucial for assessing the impact of CTEV in Saudi Arabia. The prevalence of CTEV in this birth cohort at KFUH in Saudi Arabia’s Eastern Province was 5-times higher than the global estimate. KFUH is one of the largest hospitals in one of the five most densely populated of the 13 administrative regions in Saudi Arabia.

As shown in this study, the prevalence of CTEV among 7792 births at KFUH was 5.3 per 1000 live births. This result is considerably different from findings of global and local studies. Of the 42 CTEV patients, 7 required surgical intervention owing to a late diagnosis, which is often made after the 1st year of life. At the 5-year follow-up, both the surgically treated and conservatively treated cohorts had similar functional outcomes, including walking age, walking distance, athletic participation, stair climbing ability, and foot pain complaints. Table 3 presents a detailed comparison of the clinical results between patients with clubfoot who underwent surgical intervention and those who underwent conservative treatment. The analysis did identify significant risk factors within the cohort. Parental consanguinity was present in 36 cases. Prolonged labor, exceeding the standard duration of 24 hours, was noted in 33 cases. Breech presentation occurred in 17 cases. Additionally, 28 cases had associated neuromuscular syndromes, as previously detailed. Table 4 highlights these risk factors and their significance. A 2017 estimate of the average global prevalence of CTEV in children less than 5 years of age was 0.9 per 1000 live births, or 675061 cases in a population of 675100000 children[13]. Asia had the highest CTEV prevalence[13]. A study of the prevalence of CTEV in Europe in 2019 estimated that it was 1.13 per 1000 live births[18]. Our study findings revealed a prevalence approximately 5-times higher than the global estimate. A previous study in Saudi Arabia also reported that the overall rates and incidence of congenital disease and malformation were above average compared to the other parts of the world[19]. The high incidence of CTEV is probably related to the high rate of consanguineous marriage, which others have shown to contribute to the prevalence and risk of CTEV. A previous study found that in 31% of the CTEV cases, the parents were related (i.e., first- or second-degree cousins)[15]. In Turkey, where consanguineous marriages are frequent, studies have demonstrated that children born to first-cousin parents had a significantly increased prevalence of CTEV, with a risk of idiopathic CTEV that was over 4-times higher than the average[20,21]. However, a study conducted in China, where consanguinity is uncommon, found a prevalence of 4.27-7.00 per 1000 live births[22]. A hospital-based study conducted in Riyadh, Saudi Arabia with a sample size of 18515 births found a prevalence of 2.2 per 1000 live births[15]. Studies in China and the United States reported prevalences of congenital CTEV in male and female babies of 5.31 and 4.30 per 10000 births, respectively[22,23]. In our study the male-to-female ratio of 2.23:1.00 indicated that male sex was associated with the risk of CTEV in this birth cohort.

Table 3 Characteristics of patients seen in pediatric orthopedic clinic at King Fahad University Hospital.

Clinical outcome	Surgical treatment (mean ± SD)	Conservative treatment (mean ± SD)	P value
Walking age (months)	15 ± 3	16 ± 4	0.01
Walking distance (meters)	500 ± 50	480 ± 70	0.02
Athletic participation	80%	75%	0.02
Stair climbing ability	Good	Good	0.01
Foot pain complaint	30%	27%	0.02

Table 4 Significant risk factors and their statistical significance.

Risk factor	Number of cases	SD	P value
Parental consanguinity	36	4.2	0.045
Prolonged labor (> 24 hours)	33	3.9	0.021
Breech presentation	17	2.8	0.072
Presence of neuromuscular conditions	28	4.0	0.032

Various factors that may contribute to an increased risk of developing CTEV have been identified. These include maternal and paternal smoking, family history, exposure to amniocentesis and selective serotonin reuptake inhibitors, gestational diabetes, nulliparity, and male sex. A comprehensive meta-analysis and systematic review of 42 studies (28 case-control, 10 cohort, and 4 randomized trial) comprising 31844 CTEV cases and 6604013 controls that was conducted in 2018 confirmed the significance of previously identified risk factors[24]. In it, 10% of the mothers had chronic diseases, with asthma, hypertension, and diabetes mellitus accounting for 5%, 3%, and 2%, respectively. In addition, a family history of CTEV was present in 5% of the cases, a relatively low rate compared to both local and global studies[5,18]. Such a low percentage could have been the consequence of a small sample size, as in a single-hospital based study.

Several associated conditions have been observed among CTEV cases, including asthma, speech difficulties, undescended testis, and DDH. However, all these conditions occur in an insignificant number of CTEV cases, representing only 2% for each[25,26]. First, asthma is among the most common chronic diseases in Saudi Arabia, with an estimated prevalence of 14.3%[21]. Consequently, asthma and CTEV have a weak association, as shown in this study, based on the relatively small sample. Second, speech difficulties and undescended testis also comprised an insignificant percentage. These points should be further investigated in a larger sample to give a well-determined strength of association.

DDH is one of the most critical anomalies associated with CTEV. In a prospective study of 101 cases, 16 were associated with mild DDH and 1 case met the acetabular index criteria of severe DDH (i.e., Tönnis angle)[27]. Moreover, an observational study including 119 cases found that 9 were diagnosed with DDH[26]. In this study, the incidence of DDH was relatively high compared to other studies in which 7% of the cases were diagnosed with DDH. However, another local study showed nearly double this percentage[25]. This study found a significant difference in the laterality of the condition, with 68% of the patients affected bilaterally and 38% unilaterally. The right foot was involved in 19% of the unilateral cases and the left foot was involved in 17%. This difference was not significant in other studies[26,27].

This study has potential limitations. First, it was conducted at a single hospital, focused on a specific region in Saudi Arabia, and may not be represent the entire population. Therefore, caution should be exercised in generalizing the findings to the broader Saudi population. Second, the past medical history of mothers was not adequately documented, which could affect the reliability of the reported chronic diseases. Further study is needed to explore associated conditions and their prevalence in greater detail, using larger sample sizes and more diverse settings.

CONCLUSION

This study provides valuable insights into the prevalence of CTEV in Saudi Arabia, specifically in the Eastern Province. The study population had a significant burden of CTEV, with a higher prevalence than both global and local statistics. Comprehensive interventions and healthcare planning are needed to manage and address the associated conditions of CTEV in Saudi Arabia. More study is needed to better understand the prevalence of CTEV and associated factors in Saudi Arabia.