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 The Joy of Having a Child with Down Syndrome

Giuseppe Latini
Perrino Hospital Division of Pediatrics
Clinical Physiology Institute
National Research Council of Italy (IFC-CNR), Lecce Section
Piazza Antonio Di Summa, IT-72100 Brindisi, Italy
Tel. +39 0831 537 471. Fax. +39 0831 537 861 		  Reprinted with the permission of Rolf Zetterström, Editor-in-Chief
Acta Pædiatr 2002;91(12):1291-3
Commentary

Down syndrome (DS) is the most common chromosomal abnormality, occurring once in approximately every 800 to 1000 live births. A close association between advanced maternal age and DS has been well established. Infants with DS are known to have a high frequency of birth defects, particularly cardiac and gastrointestinal malformations and different degrees of mental retardation, that cause parental concern about their future. Over the years, great progress has been made in the medical and surgical treatment of these infants. As a consequence, the life span of DS patients is increasing gradually as a result of medical advances and changes in lifestyles. Most people with DS enjoy a healthy life and a lifespan of at least 40 to 60 y is now not uncommon.
     Because each DS child is a unique, special and complete individual (1), many parents who initially perceive the birth of an infant with DS as a tragedy change their opinions dramatically over time. However, the perception remains that the DS infant is still not fully accepted by parents and society and several factors such as the cultural level and economic status of the family, social mores and religious beliefs (2) tend to affect parental relinquishment of infants with DS. This lack of acceptance starts when the nature of the condition is disclosed to the parents, and continues through the entire life of the individual. However, in 1964, Drillien and Wilkinson observed that an early and full explanation of the disease seems to make it easier for parents to accept the diagnosis (3). Health professionals have therefore had to take on the considerable responsibility of adequately informing parents that their child has DS (a difficult and trying experience), and in helping parents and society towards a greater acceptance of this condition.
     In a report in this issue of Acta Pædiatrica, Hedov et al. investigated the first information and support provided to the parents of children with DS (4). The results of this study were not encouraging. In fact, in the opinion of the majority of the DS parents, communication about the condition and support were not provided to them in an acceptable way. In other studies it has been reported that the emotional impact upon the family following the diagnosis is significant and that parents often feel that the health professionals do not address their specific needs (5, 6). For many years, the timing of giving parents the diagnosis has been a matter of debate. The majority of DS parents seem to prefer being told as soon as possible, with both parents present, in order to promote acceptance of their child into the family and the community (5, 7).
     Considering that the screening strategy for DS has the potential to detect over 80% of DS fetuses in early pregnancy (8, 9), and although the influence of prenatal diagnosis as a determining factor of the social acceptance of DS is still questionable (10), based on my own experience, I believe that it would be better if the parents were informed early in the pregnancy, thus giving them the opportunity to celebrate the child's birth as that of an "expected child", because they would have by then got over the initial shock of the DS diagnosis.
Benedetta, the happy daughter of the author at 3 y of age.
Fig. 1. Benedetta, the happy daughter of the author at 3 y of age.
     Our daughter with DS, Benedetta, is now 3 y old, and she is a wonderful and serene baby (Fig. 1). My wife and I never thought of her as an unlucky child, or of us as unlucky parents. Moreover, Benedetta has changed our life for the better and we are delighted to have her. She is perfectly integrated in our family and community, as well as in the school group, and therefore we are very optimistic about her future. In fact, it is well known that people with DS vary enormously in appearance, temperament and ability. Early intervention programmes, educational opportunities, integration in all aspects of society, adequate stimulation and encouragement can help DS children to achieve heights that were once unattainable. In this regard, perhaps we still do not know the full potential of people with DS. In fact, as in DS the resultant dosage-related under- and over-expression of genes contained within chromosome 21 too efficiently determines specific gene-phenotype correlations, it is necessary to identify the gene content of chromosome 21 and, perhaps, not only that (11-14). Moreover, all human chromosome 21 genes have to be identified in order to assess their functional associations and expression patterns. It may be that different expression patterns are associated with different levels of performance of different functions. Once these features are identified, we could address more specifically the intervention programmes, in order to enhance those functions that are particularly developed in these children, thus giving them the best chance to reach their full potential.
     Finally, medical training in communication skills is needed (15, 16). In fact, DS parents are more likely to be satisfied if the professional has an understanding of parental concerns, a sympathetic and approachable manner, is direct and communicates well and if they, the parents, are given a large amount of information and have the opportunity to ask more questions about the child or to express their feelings, as well as being given a written report on the main aspects of the disease. A complete knowledge of the expression patterns of all human chromosome 21 genes is fundamental in helping these children to achieve their potential.

References

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  3. Drillien CM, Wilkinson EM. Mongolism. "When should parents be told" Br Med J 1964; 2: 1306-7
  4. Hedov G, Wikblad K, Annerén G. The first information and support provided to parents of children with Down syndrome in Sweden: clinical goals and parental experiences. Acta Pædiatr 2002; 91: 1344-9
  5. Cunningham CC, Morgan PA, McGucken RB. Down's syndrome: is dissatisfaction with disclosure of diagnosis inevitable? Dev Med Child Neurol 1984; 26: 33-9
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  12. Gardiner K, Slavov D, Bechtel L, Davisson M. Annotation of human chromosome 21 for relevance to Down syndrome: gene structure and expression analysis. Genomics 2002; 79: 833-43
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  14. Nishigaki R, Shinohara T, Toda T, Omori A, Ichinose S, Itoh M, et al. An extra human chromosome 21 reduces mlc-2a expression in chimeric mice and Down syndrome. Biochem Biophys Res Commun 2002; 295: 112-8
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Revised: July 25, 2003.