IMMUNODEFICIENCY IN DOWN'S SYNDROME

ABSTRACT. "Natural" antibody titres to E, coli O antigens of different serotypes and to rabbit red blood cells were determined in 86 subjects with Down's syndrome and 79 mentally retarded but chromosomally normal controls ranging in age from 10 months to 52 years. Subjects in the two groups were matched for sex, age and socio-environmental conditions. Titres of both antibodies, assessed by haemagglutination, were significantly lower in subjects with DS in the 1 to 5 year old group. E. coli antibodies transiently increased to normal values in subjects with DS during the second 5 years of life, thereafter rapidly declining to levels significantly lower than those observed in controls. The titres of antibodies to rabbit erythrocytes in subjects with Down's syndrome showed a more variable course transiently approaching normal values in the 7–10 year group and after 20 years of age. These data are interpreted as further evidence for the existence of a congenital immunodeficiency in Down's syndrome.     

FOLLICULAR DEVELOPMENT IN OVARIES OF CHILDREN WITH DOWN'S SYNDROME

ABSTRACT. Ovaries of children with Down's syndrome were examined histologically in order to determine in what way the ovarian development differed from the normal. Twenty-six specimens obtained at autopsy at various ages between birth and 14½ years were available and compared with ovaries from normal children of similar ages. All ovaries from normal children were characterized by active follicle growth. The ovaries of the children with Down's syndrome, however, showed absence or retardation of follicle growth. Furthermore the number as well as the size of the antral follicles differed from those in the normal ovary. The decrease of the number of small follicles occurs earlier in life in the ovaries of children with Down's syndrome than in the control. The possible relationship between an abnormal ovarian growth pattern and hormonal imbalance is discussed.     

ELEVATED ERYTHROCYTE ADENOSINE DEAMINASE ACTIVITY IN DOWN'S SYNDROME

Abstract. Puukka, R., Puukka, M., Linna, S-L., Joensuu, T. and Kouvalainen, K. (Departments of Clinical Chemistry and Paediatrics, University of Oulu, Oulu, Finland). Elevated erythrocyte adenosine deaminase activity in Down's syndrome. Acta Paediatr Scand, 70:739,.–Erythrocyte ADA activity was measured in 29 cases of Down's syndrome and in 29 age- and sex-matched control subjects. The mean activity (± S.D.) of ADA in Down's syndrome was 1 883±463 mU/g Hb (37°C) and 1 361 ±294 mll/g Hb in the controls. The difference was statistically significant ( p <0.001). The purine metabolism of Down's syndrome patients is discussed.     

5-HYDROXYINDOLEACETIC ACID IN CHILDREN WITH DOWN'S SYNDROME

The present study has demonstrated the existence of a defect in the metabolism of serotonin in CNS in Down's syndrome. The nature of this defect is sofar unknown.     

ZINC AND IMMUNE FUNCTION IN DOWN'S SYNDROME

Abstract. Björkstén, B., Bäck, O., Gustavson, K. H., Hallmans, G., Hägglöf, B. and Tarnvik, A. (Departments of Clinical Bacteriology, Dermatology, Paediatrics and Pathology, University Hospital, Umeä, Sweden). Zinc and immune function in Down's syndrome. Acta Paediatr Scand, 69: 183, 1980.—Low levels of zinc in serum and high in blood clots were found in 12 patients with Down's syndrome (DS). They also had an immune deficiency characterized by depressed neutrophil chemotaxis, skin hypersensitivity and lymphocyte responsiveness to PHA in vitro . The patients received zinc sulphate, corresponding to 135 mg Zn⁺⁺ daily. After treatment for 2 months' serum zinc levels had increased, neutrophil chemotactic responsiveness was normal in 11 of the 12 patients and there were improved lymphocyte responses to high doses of PHA in vitro . Delayed skin reactivity to DNCB was also improved in 10 of 11 patients after zinc therapy. Zinc deficiency may in part explain the increased susceptibility to infection in DS.     

MORTALITY AND LIFE-TABLE IN DOWN'S SYNDROME

ABSTRACT: Øster, J., Mikkelsen, M. and Nielsen, A. (Department of Paediatrics, Randers Centralsygehus, Randers, John F. Kennedy Institute, Glostrup, and the Institute for Human Genetics, University of Copenhagen, Denmark). Mortality and life-table in Down's syndrome. Acta Paediatr Scand, 64:322, 1975.–The causes of death in 130 patients with Down's Syndrome and mortality rates from a material of 524 patients were tabulated; a life-table for the ages over 5 years was constructed. An overall death rate of 5–7 times the general population rate was found. No sex difference was observed. The excess mortality was especially high for heart disease and respiratory disease. Also infectious diseases, others than pneumonia and tuberculosis, showed high mortality rates.     

DOWN'S SYNDROME TRANSMITTED THROUGH MATERNAL MOSAICISM

Two families are reported in which Down's syndrome was transmitted through phenotypi-cally normal mosaic mothers. In the first family the mother had normal/G-trisomy mosaic, and on two successive pregnancies at the age of 22 and 24 years she gave birth to two sibs with regular G₂i-trisomy and Down's syndrome. In the other family the mother had a mosaic of normal and balanced D/G21 translocation cells, and at the age of 32 years she gave birth to a child with D/G_2t translocation trisomy and Down's syndrome. Mosaic mothers carry a considerable risk of having children with Down's syndrome. Exact prediction of the risk cannot be given since the extent of gonadal involvement in the mosaicism is unknown.     

DOWN'S SYNDROME WITH X0/XY MOSAICISM

Abstract. A 5-month-old Chinese infant with combined Down's syndrome and X0/XY mosaicism is presented. The phenotypical features of mongolism are classical and unmodified. The somatic effects of X0/XY mosaicism is that of incomplete masculinization with short phallus, hypospadias, bifid scrotum, urogenital sinus, and bilateral extra-abdominal infantile testicles. These features together with the absence of internal female organs and signs of Turner's syndrome in this patient are different from the previous reported cases of mixed gonadal dysgenesis.     

THE TEMPERAMENT OF DOWN''S SYNDROME TODDLERS: A RESEARCH NOTE

A toddler temperament questionnaire was completed by the mothers of fifteen Down's syndrome children who had been assessed two years earlier with the Carey infant temperament questionnaire. The results suggest that infants who have been scored as showing signs of difficult temperament move towards the easier signs on the toddler scale. If these temperament questionnaires are biased by maternal perceptions, this move may reflect a reduced level of maternal anxiety.     

A 21-YEAR PSYCHO-SOCIAL FOLLOW-UP OF 524 UNSELECTED CASES OF DOWN'S SYNDROME AND THEIR FAMILIES

ABSTRACT: φster, J. and van den Tempel, A. (Department of Paediatrics, Centralsygehuset, Randers, Denmark). A 21-year psycho-social follow-up of 524 unselected cases of Down's syndrome and their families. Acta Paediatr Scand, 64:505, 1975.–The death rate was followed, and a life table has been constructed. Three crucial events were examined: 1. the period of diagnosis, 2. the problem of institutionalization versus homecare, 3. the ageing and death of the parents and its consequences for the person with D.S. Several other medical problems, psychological implications and social consequences for the person with D.S., for his parents and siblings are highlighted. The worst problem for parents with the child at home was social isolation; for the parents with the child at an institution it was the very existence of the child. To both groups the most encouraging fact was that their child was happy, friendly and in good spirits. Finally, emphasis is laid upon the medical and paramedical problems which must be discussed and solved to make a harmonious and social life for the person with D.S., for his normal siblings, and for the parents.     

THE MEANING OF INFANT EMOTIONAL EXPRESSIONS: REGULARITIES IN CAREGIVING RESPONSES IN NORMAL AND DOWN''S SYNDROME INFANTS

In two studies, photographs of facial expressions of normal and Down's syndrome infants were viewed by mothers who recognized discrete emotions and reported regularities in caregiving associated with these emotions. Stimulating interactions were reported more frequently for high intensity expressions than for low intensity expressions. While these regularities held for both groups of infants, high intensity expressions were less frequent in the Down's group. The biological mothers of Down's infants seemingly compensated by reporting more stimulating interventions in response to their infants' low intensity expressions. Mothers who were unfamiliar with both groups of infants did not evidence this compensatory adjustment.     

EQUAL FREQUENCY OF TEL/AML1 ACUTE LYMPHOBLASTIC LEUKEMIA IN CHILDREN WITH AND WITHOUT DOWN SYNDROME

Constitutional trisomy 21 is the most prominent predisposing factor to childhood leukemia, whereas the t(12;21)(p13;q22) with its molecular genetic counterpart, the TEL/AML1 fusion gene, is the most common acquired chromosomal rearrangement in childhood B-cell precursor (BCP) acute lymphoblastic leukemia (ALL). Thus, it was somewhat surprising that according to the currently available literature the incidence of TEL/AML1+ BCP ALL is extremely low in patients with Down syndrome (DS). To further investigate this issue in a population-based fashion, the authors retrospectively assessed the number of DS patients with a TEL/AML1+ ALL in two consecutive Austrian ALL multicenter trials. Accordingly, they were able to analyze 8 of 10 individuals with DS and a BCP ALL, including 2 who suffered from a TEL/AML1+ leukemia. Based on this observation we concluded that individuals with a constitutional trisomy 21 may have the similar likelihood to develop a TEL/AML1+ leukemia as BCP ALL patients without this specific predisposing factor.     

Epidemiological appraisal of the literature on the fetal alcohol syndrome in humans

An evaluation of the evidence regarding the association between heavy maternal alcohol intake during pregnancy and the occurrence in offspring of that cluster of abnormalities called the Fetal Alcohol Syndrome is undertaken from an epidemiological perspective. Areas of concern in assessing the literature include the objectivity with which the maternal drinking history was obtained, the nature, systematic or not, of examination of offspring, the presence or absence of a comparison group, the control for potentially confounding factors and, perhaps most important of all, whether or not the identification of a case was made blind to knowledge of the maternal drinking history. While well-documented evidence that can implicate a hypothesized teratogen is difficult to obtain, the data available concerning the effects of in utero exposure to high doses of alcohol must be carefully and thoughtfully scrutinized so that valid inferences may be drawn. In this review particular attention is focused on the nature of the association between in utero alcohol exposure and mental retardation, certainly the most devastating of the FAS features.     

唐氏综合征患儿先天性心脏病术后并发症和预后的病例对照研究

目的探讨唐氏综合征(DS)患儿先天性心脏病(先心病)术后的并发症及预后。方法以2009年1月1日至2013年6月30日DS先心病术后患儿为DS组,选择同期非DS先心病术后患儿作为对照组。两组根据先心病类型分别分为简单和复杂型先心病亚组。比较两组患儿临床特征、术后并发症及预后。结果 DS组和对照组分别纳入77例,两组年龄、性别构成、体重和先心病类型差异均无统计学意义。DS组简单先心病亚组46例(59.7%),复杂先心病亚组31例;对照组简单先心病亚组47例(61.0%),复杂先心病亚组30例。DS组机械通气时间和ICU住院时间较对照组明显延长(P均0.05),低心排综合征、再插管、肺部感染和肺动脉高压的发生率较对照组亦明显增高(P均0.05);病死率也高于对照组(6.5%vs 1.3%),但差异无统计学意义(P=0.096)。DS组和对照组简单型先心病亚组并发症发生率及病死率差异均无统计学意义(P均0.05)。DS组复杂型先心病亚组在机械通气时间、ICU住院时间、总住院天数较对照组相应亚组均明显延长,低心排综合征、肺动脉高压和肺部感染的发生率亦明显增高(P均0.05),病死率DS组复杂型先心病亚组有增高趋向(12.9%vs 3.3%,P=0.173)。结论 DS不增加简单型先心病患儿术后并发症和病死率;但增加复杂型先心病术后并发症发生率的风险,有增加病死率的趋向。     

HEMATOLOGICAL DISORDERS IN DOWN SYNDROME: Ten-Year Experience at a Tertiary Care Centre in North India

A total of 239 cases of Down syndrome (DS) were seen in the genetic clinic between 1992 and 2003, of which of 15 had hematological manifestations at presentation. These comprised 4 cases of transient myeloproliferative disorder (TMD), 3 cases of TMD/acute leukemia, 4 cases of acute leukemia (AL), 2 of dual deficiency anemia, and 1 case each of myelofibrosis and idiopathic thrombocytopenia. This study emphasizes the fact that an abnormal hemogram in a DS patient does not necessarily indicate AL/TMD, as a considerable number of the cases in this study had other hematological abnormalities. TMD can be differentiated from acute leukemia only on follow-up.     

Delayed appearance of bilateral Morgagni herniae in a child with Down's syndrome

This case report describes the delayed presentation of bilateral Morgagni herniae in a 4 1/2-year-old boy with Down's syndrome. The authors emphasize the difficulties in establishing the diagnosis, although ultrasonography appears to be valu‐able. A review of the literature suggests an association between Morgagni hernias and trisomy 21. Accepted: 5 August 1997