Spina bifida and hydrocephalus: Two interlinked global challenges, two plans of attack

(Photo: Crossroads Foundation https://creativecommons.org/licenses/by/2.0/legalcode)
(Photo: Crossroads Foundation https://creativecommons.org/licenses/by/2.0/legalcode)
The United Nations global Millennium Development Goals (MDGs) for 2015 aim to cut mortality among children younger than 5 by two-thirds. As 2015 approaches, there’s a sense of hope: By 2012, the 1990 base annual figure of 12 million was nearly halved, in part through curbing infectious diseases.

However, two under-recognized, highly preventable chronic conditions—spina bifida and hydrocephalus—have not declined in low- and middle-income countries. Each year, there are an estimated 200,000 new cases of infant hydrocephalus in sub-Saharan Africa alone, and 100,000 neural tube defects in India alone. As other causes of death and disability recede, data suggest that spina bifida and hydrocephalus are gaining a larger share of mortality in young children.

A multi-institution conference at Boston Children’s Hospital on April 11 sounded a global call to action, convening a mix of surgeons, pediatric neurologists, international patient advocacy groups, food fortification proponents, health economists, obstetricians, neuroscientists and others. Many innovative approaches are being explored, including two that caught Vector’s eye.

A human rights issue

Spina bifida, a type of neural tube defect, is the failure of the backbone and spinal cord to close completely, often leading to neurologic dysfunction such as paralysis. Most babies with myelomeningocele, the most severe form of spina bifida, also have hydrocephalus, in which cerebrospinal fluid builds up in the brain’s ventricles, enlarging the head and injuring the developing brain.

Children with these conditions have a tough road. In resource-scarce countries, most have no access to surgery or help in managing their ongoing disability and symptoms. They often go uncounted in registries of new babies, or worse, are victims of infanticide or institutionalization. Few are able to attend school.

“To say that spina bifida and hydrocephalus are not a priority is a euphemism,” said Lieven Bauwens, secretary general of the International Federation for Spina Bifida and Hydrocephalus, one of the conference organizers. “If people don’t believe in these children, there is no investment in their care, and that will lead to major negative outcomes and more negative thinking.”

In Uganda, where rates of hydrocephalus and spina bifida are high, children with deformities or disabilities from these conditions have two to three times the overall child mortality rate, noted neurosurgeon Benjamin Warf, MD, of Boston Children’s. Warf recently reported that access to community-based rehabilitation after hydrocephalus surgery increased five-year survival from 50 to 84 percent. “This is a human rights issue,” he said.

Prevention: from infection control to fortifying hammermills

Warf, who with CURE International founded a pediatric neurosurgical hospital in Uganda in 2000, has gathered data suggesting that many cases of hydrocephalus could be prevented simply by curbing infections. In Uganda, he’s documented that 60 percent of pediatric hydrocephalus cases result from infections in the newborn period. Moreover, these infections are somewhat predictable: In East Africa, infant hydrocephalus surges twice a year, at the midpoint between the rainy and dry seasons.

The red line above indicates rainfall patterns over time: The rainy season occurs at the peaks, and the dry season at the troughs. The infections causing hydrocephalus (shown by the blue line) rise and fall in close parallel, peaking at the midpoint between each rainy season and dry season.

Warf and colleague Steven Schiff, MD, PhD, of the Center for Neural Engineering at Penn State University, have sought the causes, but in 65 percent of cases, laboratories were unable to isolate pathogens in culture, even in newborns with full-blown sepsis. Warf, Schiff and co-investigators have identified microbial DNA in fluid from the infants’ ventricles, but so far have been unable to prove cause and effect.

Warf called on the Centers for Disease Control and Prevention, a conference co-organizer, to help understand these infections better. But he added that obstetric interventions might also prevent many cases—noting that 69 percent of births in sub-Saharan Africa are in rural settings that are more likely to lack clean delivery practices and medically trained birth attendants.

Spina bifida, meanwhile, can be prevented simply by ensuring that women of childbearing age consume enough folic acid. In the United States alone, folic-acid fortification of the grain food supply has led to a one-third annual decline in neural tube defects, according to the March of Dimes. The impact in resource-scarce settings could be far greater.

Fortification can cost as little as a dollar a year per person, but in the diverse countries of the developing world, logistics are complicated. Food supplies tend not to be centralized, ruling out national fortification programs. Some organizations are distributing supplements and fortified foods at the village level, but getting women to seek out and use them requires the commitment of local governments and social marketing campaigns.

Project Healthy Children (Cambridge, Mass.) is piloting an innovative solution in rural Tanzania. In collaboration with a company called Sanku Fortification (Berkeley, Calif.), it is taking fortification to small, local hammermills. Here’s the business model: Sanku provides a device that can be installed on a mill in minutes, dispensing a mix of folic acid and other nutrients. The miller, in turn, agrees to purchase the mix from Sanku and uses it to produce fortified flour:

The goals are for Sanku to maintain sustained revenue to continue operating the program and for fortified flour to reach 200 million people by the year 2020, according to Felix Brooks-Church, Sanku’s Founding Technology Officer. Local government support, of course, is important to the project’s success.

Beyond prevention, some organizations are providing incontinence products to people with spina bifida, while others are studying the demographic distribution and genetics of spina bifida and hydrocephalus. Still others are focused on human rights issues and are working to make surgical treatment accessible.

The 21-organization meeting ended with plans to form a consortium to advance prevention, care and research on spina bifida and hydrocephalus globally. It’s a promising first step in a much-needed effort in global child health.