Reducing inequities in preventable neural tube defects: the critical and underutilized role of neurosurgical advocacy for folate fortification

Abstract

<jats:p>Neural tube defects (NTDs) are one of the greatest causes of childhood mortality and disability-adjusted life years worldwide. Global prevalence at birth is approximately 18.6 per 10,000 live births, with more than 300,000 infants with NTDs born every year. Substantial strides have been made in understanding the genetics, pathophysiology, and surgical treatment of NTDs, yet the natural history remains one of high morbidity and profound impairment of quality of life. Direct and indirect costs of care are enormous, which ensures profound inequities and disparities in the burden of disease in countries of low and moderate resources. All indices of disease burden are higher for NTDs in developing countries. The great tragedy is that the majority of NTDs can be prevented with folate fortification of commercially produced food. Unequivocal evidence of the effectiveness of folate to reduce the incidence of NTDs has existed for more than 25 years. Yet, the most comprehensive surveys of effectiveness of implementation strategies show that more than 100 countries fail to fortify, and consequently only 13% of folate-preventable spina bifida is actually prevented. Neurosurgeons harbor a disproportionate, central, and fundamental role in the management of NTDs and enjoy high standing in society. No organized group in medicine can speak as authoritatively or convincingly. As a result, neurosurgeons and organized neurosurgery harbor disproportionate potential to advocate for more comprehensive folate fortification, and thereby prevent the most common and severe birth defect to impact the human nervous system. Assertive, proactive, informed advocacy for folate fortification should be a central and integral part of the neurosurgical approach to NTDs. Only by making the prevention of dysraphism a priority can we best address the inequities often observed worldwide.</jats:p>

Neonatal ten-year retrospective study on neural tube defects in a second level University Hospital

“…The term "spina bifida" was first coined in 1641 by Nicholas Tulp [12]. The spread of surgical treatment of open NTDs and the knowledge of pathophysiology (including primary prevention through folic acid preconception supplement), epidemiology and genetics of such defects were reached much later, in the late twentieth century [9].…”

“…A large number of studies provided evidence that folate fortification reduces the incidence of MMC and anencephaly (conditions known as folic acid preventable spina bifida, FAP-SB, which represent up to 92% of all NTDs) [9,[22][23][24]. In USA preventive policies were first implemented in 1992, with a recommendation by the Public Health Service, that all women of childbearing age should consume 400 μg of folic acid daily [9]. In 1998, mandatory fortification of enriched cereal grain products was instituted, whose adoption resulted in a 28% reduction in NTDs prevalence (from 10.7 cases/1000 in 1992 to 7/1000 in 1998) [9].…”

“…Infants with anencephaly are mostly stillborn, or die shortly after birth, while those with spina bifida and encephalocele may survive, although suffering from physical and developmental disabilities of various degrees of severity [7]. Worldwide average incidence is 1.8/1000 births (more than 300,000 affected infants born every year), with significant geographic (ethnic, environmental, socioeconomic) variations (> 1 to around 10/1000 births in middle and lowincome countries (LMICs) and decreasing incidence in high-income countries (HICs, 0.6/1000 in USA) in the recent decades [8,9].…”

“…NTDs are among the main causes of childhood mortality and disability worldwide, with higher rates in LMICs for limited access to specialized neonatological/ pediatric and surgical care [8][9][10]. Moreover, inequities in the access to high quality care affect pregnant/childbearing age women [11], in relation to low rate of prenatal diagnosis and prevention tools (preconception folic acid supplement), thus explaining the higher prevalence of NTDs at birth.…”

Neurosurgical training and global health education: systematic review of challenges and benefits of in-country programs in the care of neural tube defects

“…The recognition that, along with care and education, neurosurgeons harbor great potential to advocate for science-based primary prevention-through fortification-has sounded as a clear call to action. 11 Pediatric neurosurgeons in North America acknowledge the need for improved education in treating NTDrelated conditions such as occult spinal dysraphism and tethered cord, as well as other neurosurgical conditions, including craniosynostosis and hydrocephalus. 3 While improved education is needed in the US, this need is even greater among LMICs, where these conditions are more prevalent.…”