Pediatric Annals

A PEDIATRICIAN'S VIEW

Milton I Levine, MD

Abstract

In my original draft of this introduction I related in full the success story of a baby boy born with a severe facial defect. One side of his face was shrunken, with an empty eye socket and several tabs of flesh and cartilage instead of an ear.

The baby's well-to-do parents refused to take him home from the hospital and sent him instead to a nursing home for mentally defective infants. At three months of age his pediatrician found a foster home for him, where he was adored and received a great deal of love and attention. In this atmosphere he thrived and became a happy, alert, and active little boy.

His parents never visited the child, but when at 18 months the foster parents asked to adopt him, the parents finally decided to take him home. On the pediatrician's advice, both parents had psychotherapy before the child was returned to them at 20 months of age.

Later, the child himself was given some years of psychotherapy. He was also trained from three years on to be such an excellent swimmer that he could at least surpass most of his peers in this competitive sport.

He attended an excellent school and did well academically, athletically, and socially, and later entered a wellknown college.

I had written the story in full, for it presented so many of the problems faced by children with birth defects, by their parents and by physicians, surgeons, psychotherapists, and other professionals in their combined efforts to give these children a full life.

This was a success story, but I realized that unfortunately it is not typical. Too many birth defects are much more destructive physically and mentally and parents can find little or no reason for a sense of pride and happiness, which mean so much to the child as well as to the parents. A great many of these children represent a failure to their father and mother and are essentially rejected. In certain cases the children become a physical burden, and often a financial one as well.

Children born with meningomyeloceles (with incontinence and paralysis of the lower extremities), with severe mental retardation, with TaySachs disease, or with amyotonia congenita are examples of children who have conditions that are at present insoluble with no prospect of eventual improvement.

Nature, if unhindered, has its own way of dealing with many birth defects. As Dr. J. William Flynt, Jr. points out in his article in this issue of Pediatrie Annals, defects are responsible for the elimination of a substantial number of embryos and fetuses in early gestation. Nature also had its way of limiting the lives of many defective children, but modern medicine has developed antibiotics and other means of keeping these children alive. Before the advent of antibiotics, children with Down's syndrome rarely lived longer than 9 or 10 years; those with meningomyeloceles and complete lack of bladder control usually succumbed of infections of the urinary tract within a few years; infants with cystic fibrosis were shortlived. Other examples could be given as well.

Today great scientific advances have been made to prevent birth defects by efforts such as genetic clinics; minimizing the use of drugs by the pregnant woman; preventing infections and infectious diseases during the early months of pregnancy; and, more recently, by using amniocentesis with termination of the pregnancy when a severe defect is evident. Dr. Lawrence Shapiro, in his article on the "Genetics of Birth Defects," clearly presents what might be expected from amniocentesis at our present stage of knowledge and the indications for prenatal diagnosis.

The article by Dr. Chester…

In my original draft of this introduction I related in full the success story of a baby boy born with a severe facial defect. One side of his face was shrunken, with an empty eye socket and several tabs of flesh and cartilage instead of an ear.

The baby's well-to-do parents refused to take him home from the hospital and sent him instead to a nursing home for mentally defective infants. At three months of age his pediatrician found a foster home for him, where he was adored and received a great deal of love and attention. In this atmosphere he thrived and became a happy, alert, and active little boy.

His parents never visited the child, but when at 18 months the foster parents asked to adopt him, the parents finally decided to take him home. On the pediatrician's advice, both parents had psychotherapy before the child was returned to them at 20 months of age.

Later, the child himself was given some years of psychotherapy. He was also trained from three years on to be such an excellent swimmer that he could at least surpass most of his peers in this competitive sport.

He attended an excellent school and did well academically, athletically, and socially, and later entered a wellknown college.

I had written the story in full, for it presented so many of the problems faced by children with birth defects, by their parents and by physicians, surgeons, psychotherapists, and other professionals in their combined efforts to give these children a full life.

This was a success story, but I realized that unfortunately it is not typical. Too many birth defects are much more destructive physically and mentally and parents can find little or no reason for a sense of pride and happiness, which mean so much to the child as well as to the parents. A great many of these children represent a failure to their father and mother and are essentially rejected. In certain cases the children become a physical burden, and often a financial one as well.

Children born with meningomyeloceles (with incontinence and paralysis of the lower extremities), with severe mental retardation, with TaySachs disease, or with amyotonia congenita are examples of children who have conditions that are at present insoluble with no prospect of eventual improvement.

Nature, if unhindered, has its own way of dealing with many birth defects. As Dr. J. William Flynt, Jr. points out in his article in this issue of Pediatrie Annals, defects are responsible for the elimination of a substantial number of embryos and fetuses in early gestation. Nature also had its way of limiting the lives of many defective children, but modern medicine has developed antibiotics and other means of keeping these children alive. Before the advent of antibiotics, children with Down's syndrome rarely lived longer than 9 or 10 years; those with meningomyeloceles and complete lack of bladder control usually succumbed of infections of the urinary tract within a few years; infants with cystic fibrosis were shortlived. Other examples could be given as well.

Today great scientific advances have been made to prevent birth defects by efforts such as genetic clinics; minimizing the use of drugs by the pregnant woman; preventing infections and infectious diseases during the early months of pregnancy; and, more recently, by using amniocentesis with termination of the pregnancy when a severe defect is evident. Dr. Lawrence Shapiro, in his article on the "Genetics of Birth Defects," clearly presents what might be expected from amniocentesis at our present stage of knowledge and the indications for prenatal diagnosis.

The article by Dr. Chester Swinyard, Dr. Shakuntala Chaube, and Dr. Hideo Nishimura presents a very careful scientific investigation of the embryological development of meningomyeloceles. Based on a study of thousands of embryos and fetuses from spontaneous and induced abortions, the authors present evidence that the neural tube closes by the twenty-eighth day following conception. This would indicate that the defect has already developed before most women realize they are pregnant.

But once a child is born with a birth defect, the problems of optimum treatment arise. Certain attitudes are gradually changing and now, as Dr. Alfred Scherzer points out in his review of the ethical aspects of the problem, there are situations where ethical consideration is being given to the question of extending the tragic lives of children with severe and hopeless birth defects.

The care of children born with defects that do not interfere with life is admirably covered in the articles by Dr. Leon Greenspan and Madeline E. Dalton.

Dr. Greenspan emphasizes the pediatrician's responsibility in directing the full care of the child in parental counseling, medical care, surgical care, psychological help, and even education. This is an important and valuable contribution.

The last article deals with the treatment of mentally retarded children, who furnish the second largest category of birth defects after structural malformations. This is a brilliant and exciting exposition emphasizing the extreme importance of early childhood stimulation. It reports the excellent results that have been obtained in reducing or ameliorating the effects of mental retardation.

These same principles of early stimulation are just as important in the case of children with structural or other bodily malformations that cause them to be deprived of so much parental affection and attention and so often result in rejection as well.

This article should be read carefully by pediatricians and all who are involved in the care of children with birth defects and mental retardation.

One fact stands out- that if we are to radically reduce the incidence of birth defects, far more research in this area is necessary. It should be strongly supported by all pediatricians.

10.3928/0090-4481-19731001-03

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