Spina bifida or myelomeningocele describes a class of neural tube defects (NTDs) that are caused by incomplete neural tube closure during the 4th week of pregnancy and result in various levels of neurological deficit. Adequate folic acid consumption during early pregnancy prevents the occurrence of NTDs. However, because the neural tube closes by week 4 of fetal development, early access to antenatal care (ANC) is crucial in the prevention or early detection of NTDs.⁸ In Uganda, 4 routine ANC visits are recommended as part of the national clinical guidelines, with the first occurring between weeks 10 and 20 of gestation.¹¹ Findings from the 2016 Uganda Demographic and Health Survey indicated that while 97% of Ugandan women accessed ANC at least once, only 60% completed the recommended 4 visits. The reasons for not attending visits included not knowing when to obtain ANC, believing ANC is unnecessary, and financial burden of transport.⁷ Because the neural tube closes by week 4 of fetal development, there is no clinical or educational infrastructure in place in Uganda for the prevention and/or early detection of NTDs. This likely contributes to the trend toward a higher incidence of NTDs in sub-Saharan Africa, although published data remain limited.^4,15,18

The severity of NTDs depends on the level and degree of spinal cord exposure, with symptoms ranging from mild cosmetic symptoms, such as dimples or tufts of hair on the lower back in the case of spina bifida occulta, to severe paralysis, chronic infections, incontinence or retention, and paralysis in the case of rachischisis. Patients are also at increased risk for complications such as hydrocephalus, with the majority of patients with open spina bifida developing hydrocephalus that requires ventriculoperitoneal (VP) shunts.^5,14 In an attempt to mitigate the complications associated with open spina bifida, the standard of care in upper-middle-income countries in the acute phase includes diagnosis in utero, cesarean section rather than vaginal birth to avoid infection, surgical closure of the open lesion within 24 hours, and continued monitoring for the development of hydrocephalus, with surgical intervention as needed. Moreover, due to the complexity of their diagnoses, patients in upper-middle-income countries are monitored by multiple highly trained specialty healthcare teams (e.g., neurosurgery, urology, orthopedics, pediatrics, physical therapy). In resource-limited settings, outcomes are greatly affected by the lack of coordinated care.

Outcomes research on pediatric spina bifida in sub-Saharan Africa (SSA) remains limited. A 2011 study in Eastern Uganda found the regional under-five mortality rate to be 37% for infants with treated spina bifida.¹⁵ Of note, this rate was in a setting where medical care for spina bifida is relatively more accessible due to the presence of a regional pediatric hospital. Given that outcomes are known to greatly improve with initial survival and community-based support, it is realistic to estimate that other districts of Uganda with even less access to community-based rehabilitation most likely have higher associated mortality.

In a 10-year survival study of Ugandan infants following myelomeningocele closure, Sims-Williams et al. found that most deaths were not directly related to myelomeningocele, but rather to infection and neglect.¹⁰ Furthermore, posthospitalization complications arise in SSA due to cultural beliefs or poverty, resulting in improper or altogether lack of treatment.³ Stigmas surrounding medical disabilities and birth defects further complicate spina bifida treatment and outcomes and severely impact the lives of patients and their caregivers, particularly those from lower socioeconomic backgrounds.^6,13 However, there is evidence that community-based support and follow-up for patients and their families significantly improve patient survival after surgical management.¹ The outcomes of pediatric spina bifida in Uganda have yet to be elucidated at a national level.

In the present study, we sought to assess the mortality and quality of life of pediatric spina bifida patients presenting to Mulago National Referral Hospital (MNRH) in Uganda through a quick and affordable phone follow-up survey.

Methods

Results

Discussion

Our findings show that the availability of medical resources and documentation for spina bifida patients in Kampala, Uganda, is very limited, and that, unsurprisingly, the lack of resources and infrastructure translates to poor patient outcomes. Nearly half of our spina bifida patients were delivered vaginally, demonstrating a lack of antenatal care and counseling that these children should be delivered via cesarean section. The 1-year mortality rate for spina bifida patients at MNRH was 34%. This is moderately higher than that reported in similar studies, e.g., 29% in rural northern Tanzania and 27% in southern Nigeria, but far greater than that of high-income countries. For comparison, a 2012 study in the United States reported a 1-year mortality rate of 6.4% in infants born with spina bifida between 1998 and 2002.^9,12,16 Interestingly, the mortality rate in the MNRH cohort is nearly 2-fold (34% vs 19%, respectively) that reported in recent studies from a regional pediatric neurosurgical center in Eastern Uganda where patients usually undergo surgery within 48 hours, are closely monitored for hydrocephalus, and have access to routine follow-up healthcare.¹⁰ The marked difference in mortality between these 2 cohorts highlights the opportunity to better outcomes at a national level by improving coordination of care and timely access to surgery.

The leading cause of death in spina bifida patients at MNRH was reported to be spina bifida complications or surgical site infections (85%). Forty-three percent of patients at hospital admission were noted to have hydrocephalus, but at follow-up the eventual percentage of associated hydrocephalus was 88%. As only 15% received shunts at MNRH prior to discharge, with little clinical care received after discharge, compared to 97% of patients in the aforementioned Eastern Uganda study who underwent surgery for hydrocephalus, it is possible that the high mortality could be related to undiagnosed hydrocephalus.¹⁰ For patients who did survive, although 39% of caretakers reported physical disabilities, only 4 patients total received assistive braces and only 15% had access to home health resources after discharge. This disparity emphasizes the dramatic unmet need for this population of patients.

GOS-E Peds scores fell in a bimodal distribution, with the majority of patients either dead at the time of follow-up or having mild disability and good recovery, with only 12% of caregivers reporting moderate disability and none reporting severe disability. This distribution suggests that within 1 year of discharge, patients either progress to death or recover many functions, with few patients able to continue living with moderate to severe disability in the community.

While it is encouraging that the majority of caregivers reported normal cognitive and social development in patient survivors, one of the key limitations to our study is that it is dependent on anecdotal reports of subjective interpretations by caregivers. Therefore, we were unable to obtain reliable, standardized neurological assessments of patients during follow-up. Moreover, due to the self-reported nature of the questionnaire, we were unable to reliably assess for patient neglect by the family or caregiver.

Many patients were discharged against medical advice and prior to receiving treatment. In our study, 48% had no documented disposition, either discharge or death. The lack of documented disposition mostly reflects the frequency of patients leaving the hospital against medical advice. Several factors can contribute to this phenomenon. One factor is pressure on mothers to return to their homes and families as they are typically the primary caretaker for other members of the family. Another significant factor can be financial limitation. Although evaluation and admission to the hospital is free, before surgery can be undertaken, the families had to gather money to pay for laboratory tests, CT scans, and purchase shunts, which may have become impossible for some families. These factors are further exacerbated by extraordinarily long wait times for surgery. Patients in this cohort waited a median time of 10 days to surgery, with some patients waiting over a month for surgical intervention. This delay likely contributed to the number of family members that chose to take their children home rather than to continue to wait for intervention. Since documentation was inconsistent, we cannot be certain that all 48% without documentation reflected families that left without medical treatment. Our results found that medical records at MNRH were not consistently implemented or maintained. These alarming results accentuate the need for proper medical record infrastructure as the basis for delivering care to low-middle-income countries. Proper training of medical professionals is important, but without transparent documentation of patient data and follow-up care, it is exceedingly difficult to identify problem areas to raise the standard of care meaningfully and consistently.

Conclusions

Patients with spina bifida in Uganda experience a lack of coordinated care prior to, during, and after birth, lack of timely access to surgery and longitudinal medical resources after discharge, and inconsistent medical documentation throughout. This shortfall culminates in a higher 1-year mortality compared with upper-middle-income countries and demonstrates the greater need for improved care in antenatal, perinatal, and long-term settings.

Acknowledgments

We acknowledge Doreen Nankunda and Evarest Ahaisibwe for their assistance in data collection.

Funding was provided by the Stanford Medical Scholars Fellowship Program.

Disclosures

The authors report no conflict of interest concerning the materials or methods used in this study or the findings specified in this paper.

Author Contributions

Conception and design: Grant, Xu, Vaca, Nalwanga, C Muhumuza, Kiryabwire, Ssenyonjo, Mukasa, M Muhumuza. Acquisition of data: Grant, Vaca, Nalwanga, C Muhumuza, Kiryabwire, Ssenyonjo, Mukasa, M Muhumuza. Analysis and interpretation of data: Xu, Vaca, He. Drafting the article: Xu, Vaca, He. Critically revising the article: Grant, Xu, Nalwanga, C Muhumuza, Kiryabwire, Ssenyonjo, Mukasa, M Muhumuza. Reviewed submitted version of manuscript: all authors. Approved the final version of the manuscript on behalf of all authors: Grant. Administrative/technical/material support: C Muhumuza. Study supervision: Grant, Xu.