As indicated by Flynt, in an article in this issue, birth defects have taken a primary place within the spectrum of pediatrie conditions and will increasingly demand clinical attention. The impact of survival with varying degrees of handicap has wide implications for the affected child, the family, and the community.
In our current era of world population pressures, questions have been raised regarding the desirability of encouraging survival of persons with physical, mental, metabolic, or other limitations.
Nowhere is this question more pertinent today than in the case of meningomyelocele. The condition occurs in one to two per 1,000 live births in the U.S.1'- Its highest reported incidence is in Western England, Wales, and Ireland (three to four per 1,000 live births).3·'1""' Isolated pockets of high incidence are also noted in Alexandria, Egypt, and in the Punjab region of India. n
The condition occurs more frequently in girls, is more common among Catholics, and is rarely found among Jews. An inverse relationship has been noted between the condition and socioeconomic status; maternal age and birth rank have not been found, to be significantly related.7 A definite familial tendency is noted- risk of recurrence is about six per cent for subsequent children if there is one previously affected sibling and 10 per cent or greater if there are more affected children in the family.8
Meningomyelocele is a spinal defect with failure of appropriate neural tube closure. It is present by the 25th to 29th day of gestation." Thus, the defect is frequently present before a definite pregnancy is confirmed. It is most common in the lumbar or lumbosacral area (Figure 1), Clinical deficits include: 1. Flaccid paraplegia below the level of the lesion; 2. Neurogenic bladder; 3. Neurogenic bowel; 4. Orthopedic problems; 5. Hydrocephalus. The hydrocephalus is generally due to an Arnold-Chiari anomaly and is present in 60 to 80 per cent of cases.
Figure 1. Typical lumbar level meningomyelocele
Etiologic studies to date have been unrevealing. Most recently, attention has been given to possible statistical relationships to ingestion of blighted potatoes.1" However, no confirmatory evidence is currently available. From the information now known it is generally felt that the disorder is probably polygenetic in origin with unknown contributory environmental factors.
Fifteen years ago the outlook for survival of children with meningomyelocele was bleak. At least 38 per cent died within the first month4 and close to 100 per cent were dead by one year." Both surgical and medical advances have subsequently changed this picture considerably (Table 1).
Closure of the back within 12 to 24 hours has been shown to both reduce infection and preserve neural function.12 Treatment of hydrocephalus has become more effective as atrial and particularly peritoneal shunts have been better designed. Careful and continuous monitoring of urinary infection has been followed with appropriate antibiotic management. Above all, the ileal conduit has become available for diversion at the earliest signs of reflux or upper tract changes, thus eliminating renal failure as a later cause of morbidity. Bracing, physical therapy, and orthopedic procedures have enabled a surprising degree of physical independence in many of these children.
Centers which have used these modalities at the appropriate time have shown a complete reversal in mortality with a survival rate exceeding 70 to 80 per cent.13 Increasing numbers of these children are now coming into the teenage years with varying degrees of function.
Several studies find encouragement in the long-term results of a multispecialty approach. In a group of 171 Philadelphia children, 42 per cent had I. Q. 's of 80 or better and were ambulatory with or without support.14 At New York Hospital, an emerging school-age population showed an average LQ. of 82; 13 of the 16 children were ambulatory and 15 were in either regular or special day-school programs.15
Other centers show similar results1" and we are now being faced with increasing numbers of survivors who are striving to better understand the meaning and usefulness of their own existence.
The expense of long-term habilitation management has been estimated at from $250,000 to $300,000 per patient over many years of treatment.17 The cost in terms of emotional upheaval of the family, adjustment of the child, and special school and vocational facilities is more difficult to calculate. On the other hand, the present and future contribution to society of the functional survivors has yet to be measured.
In spite of obvious gains in mortality and morbidity, some people continue to seriously question the advisability of full management of this condition on medical, financial, or ethical grounds. House staff physicians, in particular, frequently have a negative attitude, which is most likely the result of limited experience with the level of function possible with these children. 1S
A recent review by Lorber19 has stirred particular interest. He reviewed two series of patients given "optimum" medical and surgical treatment at Sheffield Hospital during the years 1959-63 and 1967-68. The earlier series provided long-term follow-up, while the later one gave results from the most recent surgical experience. Survivorship improved from 50 per cent to 67 per cent, but Dr. Lorber interpreted the data as showing an actual increase as well in the survivors with both severe physical disability and mental retardation (from 14 per cent to 23 per cent).
On the basis of these data, criteria were identified as a guide to determine whether or not cases should be treated. Criteria included: I. Severity of lower extremity paralysis; 2. Severe hydrocephalus at birth; 3. Marked kyphosis; 4. Associated congenital anomalies or major birth injuries; 5. Ventriculitis. In effect, Dr. Lorber suggests that these criteria provide a rationale for selecting out those expected to be the least functional survivors.
But what is "functional/' and who has the "right" to live a disabled life or none at all? And which single physician or group of specialists can assume the last word in such decisions? What of the parents- their wishes and expectations of the patients? What are the demands and needs of society?
The debate swirls about these issues and the variety of interpretations given to them. What Dr. Lorber considers severe physical handicap includes limited ambulation and urologie problems. But children with reasonably intact mentality could conceivably lead meaningful lives even if they were confined to a wheelchair or required the use of an ileal conduit bag.
Moreover, clinical experience today indicates that even the totally untreated patient does not die early. Instead, he or she may survive for long periods of time (up to several years), more disabled and difficult to manage than if some treatment were provided. This is particularly troubling since facilities for custodial care are generally minimal and frequently nonexistent.
What of the parents? Their voices are heard little. And how often are they heeded? The titles of two recent articles in consumer magazines- "The Agonizing Decision of Joan and Roger PeII"20 and "I Left My Newborn Son to Die"21- give some indication of the indecision and doubt that surround the presence of a deformed child.
A recent provocative article discussed prospects for a hospital review board responsible for decisions regarding treatment- "The God Committee."22 Professional reactions to this concept are as varied as the indi. vidual personalities involved.
Parents' reactions to "The God Committee" idea were recently obtained by Swinyard through the use of a questionnaire involving 1,300 children. Preliminary results indicate that 80 per cent of the parents would totally reject such an idea and about 80 per cent feel that the medical profession has an obligation to provide maximum care, at least until such time as preventive measures are available."
This information is at variance with the opinion of Dr. Lorber, obtained from colleagues, that ". . . many parents express the wish that their child should not be treated if it will mean permanent handicap with major disabilities, provided also that their child's life is not unduly prolonged."10
These issues are now becoming more apparent as medical and surgical procedures literally enable choices to be made. A birth defect such as meningomyelocele becomes at once a model for multidiscipline management and a prime case for ethical considerations in medicine. Everyday, decisions regarding treatment of such conditions are increasingly becoming the concern of medical institutions in this country.
At Harvard, for example, an Interfaculty Program on Medical Ethics has been established, and "ethics" rounds are being held at the Children's Hospital Medical Center in Boston involving medical specialists, clergymen, and lawyers. Similar programs are being established at Georgetown, Columbia, and Dartmouth. A recent survey by the Institute of Society, Ethics, and the Life Sciences reports, . however, that only 17 medical schools have an identifiable program, although 33 have some elective courses.24
The issues in ethical medicine are complex, and the attitudes of professionals, patients, families, and the community need as careful study as other facets of medical management. The time has come for centers of health care to establish the climate, organization, and framework around which these questions of ethical consideration can be dealt with openly in a manner acceptable to all concerned.
More data are needed regarding the natural history and long-term consequences of those who have benefited from present medical management. A better appreciation of how the physician can become more objective in his or her approach to the issues is essential.
By raising these questions now, birth defects are demanding solutions today to much of medicine for the future. For it is clear that emphasis is changing from acute care to long-term management. And, increasingly, the physician will have to join others in the critical decisions not only of life or death, but of the quality of survival.
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2. Schwidde, J. Spina bifida. Am. J. Dis. Child. 84 (1952). 35.
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6. Stevenson, A. et al. Congenital malformations: Report of sludy of series of consecutive births in 24 countries. Bull. W.H.O., Suppl. 34 (1966), 1.
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10. Renwick, J. Hypothesis: anencephaly and spina bifida are usually preventable by avoidance of a specific but unidentified substance present in certain potato tubers. Br. J. Prev. Soc. Metí. 26 (1972), 67.
11. Rickham, P. and Mawdsley, T. The effect of early operation on the survival of spina bifida cystica. Deve/. Med. Child. Neurol. , Suppl. 11 (1966), 20.
12. Sharrard, W. et al. A controlied trial of immediate and delayed closure of spina bifida cystica. Arch. Dis. Child. 38 (1963), 18.
13. Shulman, K. and Ames, M. Intensive treatment of 50 children born with meningomyelocele. N.Y. State J. Med. 68 (1968), 2656.
14. Ames, M. and Schut, L. Results of treatment of 1 71 consecutive meningomyeloceies1963-1968. Pediatrics 50 (1972), 466.
15. Scherzer, A. and Gardner, G. Studies of the school-age child with meningomyelocele. 1. Physical and intellectual development. Pediatrics 47 (1971), 424.
16. Andrews, L. Spina bìfida cystica- a follow up survey. Cañad. Med. Assn. J. 97 (1967), 280.
17. Let blighted babies die, or not? Med. World News 13 (Nov. 17, 1972), 27.
18. Bunch, W. et al. Modem Management of Myelomeningocele. St. Louis: Warren H. Green, 1972.
19. Lofber, J. Results of treatment of meningomyelocele. Deve/. Med. Child. Neurol. 13 (1971), 279.
20. Pell, R. The agonizing decision of Joan and Roger Peil. Good Housekeeping, Jan. 1972.
21. Rotter, W. I left my newborn son to die. Redbook. Oct. 1972.
22. Freeman, E. The God Committee. New York Times Magazine, May 21, 1972.
23. Swinyard, C. Personal Communication.
24. Ethical questions Hippocrates did not have to face. Med. World News 13 (July 14, 1972), 41.