Care and Prevention of Congenital Disorders

by Beryl Lieff Benderly

 

Imagine a little girl who spends her days sequestered in her family’s small house while the other children her age attend the village school. Her parents want to keep her face hidden when she is in public and are sure they will never be able to find her a husband.  Each year they take her to a special prayer service for the deformed. They believe she shames the family.  

   

Picture a boy who has to struggle along the dusty paths of his village, taking painful, awkward steps on the sides of his feet. He longs to join the other kids in their soccer games and wishes they wouldn’t taunt him about being different. He wishes he could join  his brothers and sisters in helping his parents with the work on their small farm. His parents, meanwhile, despair that he will never be able to earn a living at farming or any other trade.

Now consider that both of these children are intelligent and healthy and could be living without disability, stigma or exclusion, were it not for two unfortunate facts about their birth. First, each was born with one of the world’s most common congenital disorders, the girl with a disfiguring malformation of the lips and mouth known as an oral cleft, and the boy with a disabling malformation of the ankles and feet known as clubfoot. Second, both were born to poor families in low-income countries and do not have access to the safe and cost-effective treatments that are available in wealthier countries.

These children are only two of the multitude of people around the world—90 percent of them born in developing countries—who face major problems because of abnormalities present from birth.¹ Oral clefts and clubfoot each affect roughly one to two infants of every thousand born worldwide. Both conditions belong to the largest category of congenital disorders, which consists of deformities that occur in a single type of limb, organ, or system and affects of almost 5 million newborns a year. Other categories include genetic disorders caused by gene and chromosome abnormalities and disorders induced by teratogens, drugs, chemicals, and infections that pass through the mother and damage the developing fetus. Together, congenital disorders afflict a total of about 9 million infants, or some 7 percent of all births worldwide each year.²  In many countries, large numbers of these individuals do not receive the existing treatments that can improve and even save their lives. In addition, hundreds of millions of pregnant and soon-to-be-pregnant women do not the get the nutrition and health care that can reduce their chances of bearing a baby with birth defects.

A number of birth defects are fatal, and kill some 3.3 million children under the age of 5 annually—95 percent of them in the developing world.³ Some of these children have congenital disorders that cannot be effectively remedied through treatment. But even in countries with the most advanced and readily available medical care, many die for lack of proper care. 

Among the survivors, some have conditions that, even with the best treatment, subject them to disabilities or limit their potential. But an estimated 3.2 million of the children who are born each year with congenital disorders and do survive have to forego the care they need to prevent or reduce disability. Around the world, therefore, tens of millions of children and adults are forced to live with the effects of birth defects, many suffering “lifelong mental, physical, auditory and visual disabilities that exact a harsh human and economic toll on those affected, their families and the communities in which they live,” according to a  technical working paper written for the Disease Control Priorities Project by Christopher Howson of the March of Dimes and co-authors.⁴

 

A Public Concern

      Congenital disorders are far more than personal or family calamities. The number of individuals and communities they affect and the level of suffering they exact make them an important public health issue, although one that has received far less attention from health officials, government agencies, and the public than the severity of its impact should justify. Ironically, while health care has improved in many parts of the world in recent decades, the relative importance of congenital conditions has actually increased. Disease and death among babies and children plummeted in many countries during the 20th century, thanks to major medical and public health advances. However, death rates from many birth defects have held steady. As countries develop and health care improves,  birth defects account for a larger proportion of infant deaths.⁵

The toll is heavier in developing countries than in wealthier one.  Congenital disorders have a number of causes, some of which are still unknown. The frequency of genetic birth defects, “appears similar throughout the world,” notes the March of Dimes Global Report on Birth Defects.⁶ Many disorders arise from a variety of other nongenetic risk factors. These include “poverty, maternal medical complications, infection, poor nutrition, smoking, alcohol and drug abuse to name a few,” note Howson and co-authors. Because so many of these factors cause poor health among mothers, reducing the risk of many birth defects does not require high-tech, high-cost technologies, but rather adequate diets and competent primary care for mothers-to-be. Because so many in poor countries lack access to either, the overall rate of congenital disorders per thousand newborns is about 20 percent higher in poor countries than in rich ones.⁷

In truth, most of the needed prevention and care could be provided relatively cheaply in primary and secondary settings. These services “should be considered an integral and cost-effective arm of public health programs directed at saving the lives of and reducing disability among women, newborns and children. In fact, “some interventions, like fortification of food with micronutrients, benefit the entire population.”⁸ 

 

Effective--and Cost-Effective--Care

      Clubfoot is one of the abnormalities that can be corrected relatively inexpensively in low- and middle-income nations. Disease Control Priorities in Developing Countries, Second Edition, one of three 2006 publications of the Disease Control Priorities Project, lists it among the “simple surgical conditions” suitable to “basic hospital service which requires no sophisticated care.” This “can be cost-effective, with a cost per disability-adjusted life year (DALY) that is much lower than might have been expected….”⁹ Also in this category are some of the common cardiac and neural tube disorders present at birth. 

Technically known as talipes, clubfoot causes the front portion of the foot to twist inward into a shape like a golf club. Severity varies and one or both feet can be affected. Clubfoot never improves on its own, but timely treatment can almost always provide normal—and sometimes outstanding—function. Such celebrated athletes as Olympic figure-skating champion Kristi Yamaguchi underwent successful childhood treatment for talipes.¹⁰

Oral clefts can often also be completely repaired. In cleft lip, also known as a harelip after the divided upper lip typical of rabbits, a child’s upper lip is split in two by a cleft that can range from the merest nick to an unsightly gap running all the way to the nose. A cleft palate is a gap in the hard roof of the mouth. Though often hidden from view, it can interfere with speaking, breathing, and eating and can also raise the  risk of repeated ear infections and resulting hearing loss. If left untreated, a cleft palate may even result in death through malnutrition or infection.¹¹ Cleft lip and palate may occur either alone or together and about half of people born with clefts have both conditions. About 30 percent have cleft palate and the remaining 20 percent have isolated cleft lip.¹²

Clefts form during the second to third month of pregnancy. In normal fetal development, the lips and palate initially consist of two parts that later fuse together.  Sometimes this process is incomplete, leaving gaps in the lips, palate, or both. The causes of oral clefts and clubfoot are unknown, but genetics appears to play some role. Other factors may include poor maternal health and contact with toxic substances, but scientists do not understand the interactions. These abnormalities can also occur as part of larger genetic syndromes that include other problems. Clubfoot, for example, sometimes occurs in conjunction with congenital spine problems or abnormalities in joints elsewhere in the body. 

Fortunately, the great majority of children born with oral clefts or clubfoot have no other disorders. That treatment prevents the disability, stigma, and social isolation that the person would otherwise suffer underlines the need—and the great cost-effectiveness—of prompt and appropriate care. In developed countries, remedial steps routinely begin as early as the first months of life to maximize chances of success and minimize harm to the child’s linguistic, physical, and emotional growth.

Treating oral clefts requires one or several surgeries that join the separate parts of the hard palate and repair gaps in the soft tissue, ultimately resulting in normal function and appearance. This process can extend over a period of several years and the child usually also benefits from speech therapy and other services.

For clubfoot, treatment often begins shortly after birth when a series of specially designed casts and braces are applied according to a method devised by Dr. Ignacio Ponseti, an orthopedic surgeon at the University of Iowa , that reshapes the foot and allows the child to stand and walk normally.  In the small proportion of cases that do not produce completely satisfactory results, surgery can often provide significant additional improvement. When necessary, the operation may focus on soft tissues, releasing or moving tendons or other tissues, or on bone, including resetting bones or fusing joints to encourage the foot to grow more normally. In wealthy countries, clubfoot and oral clefts are rarely visible apart from early childhood.

 

Care for All Children

      In less affluent parts of the world, however, these disorders often go unrepaired. "Just like in other developing countries, a high percentage of clubfoot in the Philippines are treated late, remain untreated or are poorly treated,” notes orthopedic surgeon Dr. Julyn Aguilar of St Luke’s Hospital in Manila . “This can cause debilitating physical and psychological burdens on patients as well as severe financial burden on the family and society.”¹³ 

Dr. Aguilar has established a Ponseti program in her hospital, and the technique has also been used successfully in primary care settings in developing countries such as Uganda and Brazil.¹⁴ A study in Malawi found that good results do not even require physicians, who are in short supply in many nations, but can be achieved by health care providers with lesser credentials and special training.¹⁵ But, notes the March of Dimes report, many low- and middle-income countries “have yet to develop most of the services needed to care for birth defects, especially for common conditions, within their primary and secondary health care systems.”¹⁶

Experts agree that countries should approach congenital disorders with two aims: caring for the individuals currently living with the conditions and reducing the risk that others will be will born with them in the future. “Children and adults with birth defects should receive the best medical care that is available in their setting, including, where possible, medication and surgery,” recommends a report by the United States National Academies of Science, adding that “treatment should be undertaken as early as possible.”¹⁷ 

Rehabilitation often plays an important part in appropriate care, especially for conditions that are not curable. At low cost, rehabilitation helps many people born with congenital disorders to live productive, fulfilling lives. However, “successful control of birth defects requires that strategies for care and prevention...be integrated and, thus, combine best possible patient care with prevention through public health measures.”¹⁸ The National Academies report also notes, “Effective rehabilitation services have been established in settings with very limited financial and professional resources.”¹⁹ Another crucial element of an effective approach is community education that informs people about avoidable risks such as smoking and alcohol during pregnancy and prevention measures such as as fortified food and vaccination against rubella. Community education also reduces stigma and marginalization by teaching that a congenital disorder is not the sign of a bad family, the result of bad karma, or a mark of shame.

One method that developing countries can use to lessen the burden of birth defects while simultaneously serving broader health needs is establishing “surgical services for children with birth defects in designated units in secondary and tertiary health care.”²⁰ Although many have long thought surgery suitable only in high-tech, high-cost hospitals, a new awareness is emerging that “that surgical treatment provided in low-tech community hospitals is cost-effective,” especially for “conditions that have a significant effect on quality of life, such as…clubfoot,” notes Disease Priorities, adding that “the clear conclusion is that surgery must be considered a public health priority.”²¹

Given these needs and possibilities, the Institute of Medicine report urges  “senior policy makers [to] recognize the enormous personal and societal consequences of birth defects and provide leadership to reduce their impact.”²² For a detailed discussion of how to begin, readers may wish to consult the technical working paper here.

 

Beryl Lieff Benderly is a prize-winning Washington journalist and author specializing in health, behavior, and science policy. Her articles appear in major magazines and on the Internet, and she is a regular contributor to the Science magazine website. Her eight books include In Her Own Right: The IOM Guide to Women’s Health Issues.
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¹ Howson, C., A. Christianson, and B. Modell. 2008. "Controlling Birth Defects: Reducing the Hidden Toll of Dying and Disabled Children in Lower-Income Countries." Disease Control Priorities Project (DCPP), Washington, DC. http://www.dcp2.org/file/230/dcpp-twpcongenitaldefects_web.pdf

² Howson, C., A. Christianson, and B. Modell. 2008.

³ Howson, C., A. Christianson, and B. Modell. 2008.

⁴ Howson, C., A. Christianson, and B. Modell. 2008.

⁵ Howson, C., A. Christianson, and B. Modell. 2008.

⁶ Christianson, A., C. Howson, and B. Modell. 2006. March of Dimes Global Report on Birth Defects: The Hidden Toll of Dying and Disabled Children, March of Dimes.

⁷ Christianson, A.,  C. Howson, and B. Modell. 2006.

⁸ Howson, C., A. Christianson, and B. Modell. 2008.

⁹ Debas, H. T., R. Gosselin, C. McCord, and A. Thind. 2006. “Surgery.” In Disease Control Priorities in Developing Countries, 2nd ed., ed. D.T. Jamison, J.G. Breman, A.R. Measham, G. Alleyne, M. Claeson, D.B. Evans, P. Jha, A. Mills, and P. Musgrove, 1245. New York: Oxford University Press.

¹⁰ Hart, E. S. 2003. “Pediatric Orthopaedic Ailments.” Massachusetts General Hospital , Orthopaedic Surgery. http://www.massgeneral.org/ORTHO/ClubFoot.htm.

¹¹ Bale, J. R., B. J. Stoll, and A. O. Lucas. 2003. Improving Birth Outcomes: Meeting the Challenge in the Developing World. Committee on Improving Birth Outcomes. Washington : National Academies Press.

¹² American Academy of Otolaryngology, Head and Neck Surgery. Fact Sheet: Cleft Lip and Cleft Palate. http://www.entnet.org/HealthInformation/cleftLipPalate.cfm.

¹³ Datol, C. A. 2007. “St. Luke’s Offers Non-surgical Treatment for ‘Clubfoot’.” Manila Bulletine Online. www.mb.com.ph/issues/2007/12/09/HLTH20071209110688.html

¹⁴ Howson, C., A. Christianson, and B. Modell. 2008.

¹⁵ Shack, N., and D. M. Eastwood. 2006. “Early Results of a Physiotherapist-delivered Ponseti Service for the Management of Idiopathic Congenital Talipes Equinovarus Foot Deformity.” Journal of Bone and Joint Surgery. http://findarticles.com/p/articles/mi_qa3767/is_200608/ai_n17171160

¹⁶ Christianson, A.,  C. Howson, and B. Modell. 2006.

¹⁷ Bale, J. R., B. J. Stoll, and A. O. Lucas, editors. 2003. Reducing Birth Defects:  Meeting the Challenge in the Developing World. Washington : National Academies Press.

¹⁸ Bale, J. R., B. J. Stoll, and A. O. Lucas, editors. 2003.

¹⁹ Bale, J. R., B. J. Stoll, and A. O. Lucas, editors. 2003.

²⁰ Howson, C., A. Christianson, and B. Modell. 2008.

²¹ Debas, H. T., R. Gosselin, C. McCord, and A. Thind. 2006.

²² Bale, J. R., B. J. Stoll, and A. O. Lucas, editors. 2003.