ReportOnDownsSyndrome

[music] [music] Medical knowledge, facilities, and skills have developed enormously in the past century. The birth of normal children without incident of any kind has become more and more commonplace. In spite of this, there is always the possibility of physical or mental defect in the child. With the best of prenatal care and a knowledgeable medical regime, there is still no assurance that every child will be completely normal. Some serious abnormalities can be diagnosed by the attending physician at birth. This is generally true of Downs syndrome, formerly called Mongolism, which at this time is largely unpredictable and a leading cause of mental retardation, which we as yet cannot prevent. In 1866, a British physician Langden D coined the term mongolism to describe those suffering from a marked arrest in physical and mental development and whose slanting eyes and flat nose resembled members of the Mongolian race. It is an unfortunate term since the condition is not related to racial background at all. There are more than 50 known characteristics associated with Down syndrome as these cases are now called. But [ __ ] mental development is nearly always found. Diagnosis at birth is frequently possible due to obvious signs including facial appearance, poor muscle tone, and mobile joints. Borderline cases can only be diagnosed accurately through follow-up clinical examination over a period of time. The child's development is compared with established performance schedules of the normal child and down syndrome is generally confirmed or disproved within a year or two following birth. Every day many children are born whose physical and mental capacities are less than those established as normal. In the United States, about 5 million children and adults are mentally [ __ ] in varying degrees. Of these, approximately 50,000 suffer from Down syndrome. Statistics offer little solace to the mother and father called upon to accept a situation they can only consider a personal disaster. emotionally disturbed. Some parents have misgivings and guilt feelings due to a significant event during the pregnancy which they believe caused their child's abnormality. Actually, the fact that the mother may have gone through some highly emotional personal experiences, illnesses, falls, etc. has no proven relationship to the birth of a child with Down syndrome. Although there has been much research, the exact cause of Down syndrome is not yet known. There is general agreement that maternal age and the reproductive capacity of the mother are important factors. Such factors as previous miscarriages, a longer period of infertility preceding the birth, vaginal bleeding during pregnancy, abdominal operations at or shortly after conception have been studied extensively. At present, studies in the area of genetics are providing the best clues. Perhaps the greatest contribution of research is the discovery of an abnormal complement of chromosomes in persons suffering from Down syndrome. Counting chromosomes even by experienced geneticists is a difficult and complicated process. The technique requires bits of live tissue or blood which are grown in artificial media. Culturing the various tissues, preparing slides for the microscopic study, and finally counting the chromosomes demands expert technique and patience. Chromosomes are numbered in pairs according to size. In the normal male, there are 22 pairs called autotosomes plus two sex chromosomes called X and Y. The autotosomal pairs are the same in the normal female, but there are two X and no Y chromosomes. Thus, normal individuals have a total of 46 chromosomes consisting of 22 autotosomal pairs and two sex chromosomes. Mongaloids have a total of 47 chromosomes. The extra one is a small V-shaped structure similar to autotosomal pair 21 making a tricom of 21 instead of a pair. It is suggested the extra number 21 in the mongaloid child is usually caused by nondisjunction of 21 prior to at or shortly after conception. It is also caused by transllocation of 21 to chromosome 15. Non-isjunction of chromosome 21 is an unpredictable accident, a genetic anomaly of the egg or sperm of the parent which results in mongalism in the child even though each parent is normal in every respect and each has the proper total of 46 chromosomes. Among experts in this field, it is agreed that most mongaloid births are due to nondisjunction, a matter of pure chance. In such a case, the probability of having another mongaloid baby in the same family apparently is no greater than in any average family. The other anomaly of chromosome 21 is due to transllocation which may occur to a parent through some untored event causing part of one chromosome to break off and fasten itself to part of another. This is the chromosomal pattern of a woman normal in appearance and intelligence which exemplifies the transllocation trait. Note there is only 15 and 121 but a separate combination of 1521 which represents transllocation of 21 with 15. The woman has three children. one mongaloid son, one son who is normal but has the chromosomeal pattern of transllocation and a daughter who has a completely normal chromosomal pattern until such time as chromosomeal analysis is generally and easily available. The occurrence of mongaloid births due to transllocation cannot be changed for the better. Recent research has helped correct misinformation and stigma long associated with Down syndrome. However, it is still the responsibility of parents to accept the situation. The following sequences, enlargement of original 8mm silent films, present the development of a typical child with Down syndrome. Chris is now 9 months old, active, sociable, and surprisingly capable. He has an older brother and sister who are completely normal children. His mother is well educated. It is an excellent marriage. The family is well adjusted. While some mongaloids are unable to sit up until 3 to four years, Chris began soon after 8 months. Chris walked at 18 months. Most mandaloid children eventually learn, but it is not unusual for walking to start as late as 3 years. His parents told his brother and sister that he was different but was to be loved and accepted as a member of the family. At 24 months, he is toilet trained. He enjoys holidays and celebrations as any normal child. He has toys that please him, like dragarounds that are right for his age group. His family makes use of available parks and other public facilities for fun and recreation. At 30 months, he continues to respond to the consistent home training program of routine, relaxation, repetition. The three Rs for training mentally [ __ ] children. At 36 months, he plays happily with his brother and sister. They understand he is a slow learner and like all the family are patient with him. At age four, he was enrolled in the nursery school sponsored by the San Gabrielle Valley Association for [ __ ] children. He has responded to the love of his entire family who have accepted and helped him in this school for mentally [ __ ] children. Chris is happy with the program and at home with his classmates. He associates with them on an equal basis, which would not be possible in a normal public school unless there were special classes for [ __ ] children. Chris's development is unusual. At 5 years of age, his IQ is 79, far above the 3050 range of most so handicapped. At his birth, the parents were told that he suffered from a glandular deficiency and would always be slow in his development. The possibility of placement in a state institution for [ __ ] children was discussed but not urged. At 9 months of age, he was seen at the child development clinic at Children's Hospital in Los Angeles and the diagnosis of Down syndrome was established. Continued home care was warmly supported because of his pleasant personality and excellent developmental progress. Chris's parents decided to give him the same opportunities as his siblings and have kept him at home. In retrospect, it was a good decision both for Chris and the family. At 5 weeks of age and for many following months, Diane was no more troubled than any normal baby. At 10 months, she likes her pet, the cat, and other experiences of family life sometimes missed in institutions. On her first birthday, you can see she has been fully accepted as a member of the family. She has toys of interest to her age group. Holidays mean a great deal to her. Diane begins to walk at 17 months, well ahead of the average of 3 years for most such children. Mimicking her sister, she tries brushing her hair. She is still on the bottle, but was weaned at 24 months. Sibling play, outings, and parties are fun. Children need the warmth and stimulation of these experiences. There is no pressure to eat. The spouted cup, rim on high chair tray, threesection plate, soft plastic spoon, all help her learn to feed herself. Newspapers on the floor make such feeding experience permissible. While there is no speech at 24 months, Dian's wants are easily understood. She likes her new clothes. Her brother and sister can and want to help. They understand she is slow and are patient with her. At 30 months, she enjoys everything just as any normal child. Many communities have waiting pools. parks and a variety of public facilities and bathing beaches. Few [ __ ] children get to Capistrano or the zoo, but they should. Birthdays are never overlooked in this family. There are many happy ways to release excess energy. You can have a lot of fun watering the lawn or quietly assembling a toy train just at bedtime. Exercise is always necessary. And finding out about new chicks firsthand is a warm experience. All children, whatever their mental ability, develop by doing happy, constructive things. Picnics, outings, and other opportunities for healthful exercise stimulate interests and develop potentials. Diane enters the nursery school sponsored by the Long Beach Parent Group for [ __ ] children. This not only gives mother a respit but provides Diane with acquaintance experience with other children similarly handicapped. These children enjoy learning in class and they love music. A picnic lunch and much play outdoors are included in a planned daily program. In the evening, Diane continues to participate in all family activities. Like Chris, Diane is very capable for such a [ __ ] child. However, both suffer from Down syndrome, which means they will need care all their lives. Some of these children make a good adjustment to normal life. Occasionally, they are able to handle routine and repetitive work, but in the past, we have not been able to develop most to this degree. All children differ, but these sequences of Chris and Diane have presented the development of two children with Down syndrome. The fact that they are more able than most such children may well be due to the stimulation and richness of real home life, which provided many advantages not available to children reared in institutions. When a child with Down syndrome is born, it is the doctor's responsibility to inform the parents. Most physicians today believe in disclosing the facts of the case as soon as the diagnosis is firmly established. The sooner parents have the necessary information, the better are their chances of acceptance and adjustment. Although the physician must rely on his knowledge of the family situation to make a recommendation concerning the immediate care of the child, final decisions must be made by the parents as the child is their responsibility. What is best for the parents and the baby in one family may not be the best for another family. Each case involves differences in cultural, educational, religious, and socioeconomic backgrounds. The decision should be made with the help and support of all professional personnel caring for the child. Parents able to give their child the advantages of warm family life can obtain help from various professional sources. The pediatrician, psychologist, public health nurse, social worker, and special training educator can provide a team effort working for the development of [ __ ] children by providing expert medical care consisting of correction of other associated defects, treatment of respiratory infections, dietary control, dental surveillance, routine immunizations, etc. Physicians can be of great emotional support to parents and help them with this problem. Moreover, the development of special clinics by the Children's Bureau has been of great help to many families. Their organization, the National Association for [ __ ] Children, has already initiated several research projects dealing with this problem. There are more than 1,000 parent groups in the United States who have joined forces to deal with the training and education of [ __ ] children as a community responsibility. While there is still no cure or preventive regime to eliminate Down syndrome, there is promise that continuing research and new findings will soon bring a major change for the better. >> [music]