ACCIDENTS AND SURGICAL EMERGENCIES IN A POPULATION OF MENTALLY RETARDED CHILDREN

The incidence of casualties in an institution for mentally retarded children is shown to be about three times as great as in the normal Danish child population. The circumstances concerned are analysed by means of a retrospective investigation to elucidate the mechanisms involved and the contributory factors. The investigation reveals that there is a definite relationship between the degree of mental handicap and the underlying disease (e.g. epilepsy and/or cerebral paresis, mon-golism etc.) and the incidence of casualties. Other types of incapacity such as motor handicap, anaesthesia, defective sight or hearing and other physical disease (e.g. hydrocephalus) may predispose to accidents. Some children are undoubtedly more accident-prone than others and the cause may be found in their disease (most frequently epilepsy) while, in others, purposeless motor activity and the inability to learn from experience combined with severe or profound mental retardation appear to be responsible. Phases of accident-proneness may be associated with the acquiring of new skills. Some prophylactic measures are suggested which should be considered when new institutions are planned. A broad spectrum of somatic, developmental, handicap, environmental, emotional and mental factors interplay in the production of accidents in mentally retarded patients. Attempts should be made to analyse the mechanism of every accident so that appropriate prophylactic measures can be undertaken.     

LOW MOLECULAR WEIGHT PROTEINURIA AND SLIGHT HYPERLIPOPROTEINEMIA IN THREE MENTALLY RETARDED BROTHERS

Abstract. Mental retardation in combination with proteinuria and a slight hyperlipoproteinemia was found in three brothers. The increased urinary protein excretion was dominated by albumin and the low molecular weight proteins retinol-binding protein (RBP) and β₂-microglobulin, indicating the presence of proximal tubular dysfunction. However, there was no glucosuria, phosphaturia or amino aciduria and the renal concentrating and acidification capacities were normal. A kidney biopsy in one of the patients revealed morphologic evidence of glomerular damage but a normal tubular structure. A mild hyper-β-lipoproteinemia was found in the patients but not in their healthy siblings. The cause of this syndrome, hitherto not described, is unknown.     

THE XXYYY SEX CHROMOSOME COMPLEMENT IN A MENTALLY RETARDED CHILD A Case Report

The clinical features of a boy found to have the XXYYY sex chromosome complement are reported. It is believed to be the first report of this abnormality.     

A CASE OF PRADER-WILLI SYNDROME IN A GIRL WITH A SMALL EXTRA CHROMOSOME

A characteristic case of Prader-Willi syndrome is reported in a girl who showed, additionally, the presence of a small extra chromosome, possibly a fragment of a D or G group chromosome. Available members of the proposita's family were found to be phenotypically and cytologically normal. The case is compared with those previously reported.     

TRISOMY 8 SYNDROME

Abstract. A case report of trisomy 8 in a 17-year-old mentally retarded female is presented and the previously reported cases of trisomy 8 are reviewed in an attempt to establish the clinical characteristics of the trisomy 8 syndrome.     

A GIRL WITH RECURRENT INFECTIONS, LOW IgM AND AN ABNORMAL CHROMOSOME NUMBER 1

A girl, now 3 years of age, is described, who since the age of 3 months had many, often severe, infections mainly caused by microorganisms with a polysaccharide structure. In addition she had very low IgM and no iso-agglutinins in her serum, and furthermore we were able to show an abnormal chromosome number 1 in more than 80% of the cells investigated from peripheral blood. The possibility that antibodies to polysaccharide antigens are directed from chromosome number 1 is referred to in this paper.     

MENTALLY RETARDED CHILDREN AND YOUNG PEOPLE IN SWEDEN: Integration into Society: the Progress in the Last Decade

Abstract. Grunewald, K. (National Board of Health and Welfare, Stockholm, Sweden). Mentally retarded children and young people in Sweden. Integration into society: the progress in the last decade. The services for the mentally retarded follow the principle of normalization, with integration as the most important means towards achieving this goal. A total of 0.44 % of the population are mentally retarded. This number is decreasing. Only 23% of these are midly mentally retarded. The number living in different forms of institutions, is given by age and grade of retardation as well as the number of integrated school classes, and the changes in these respects since 1970 are described.     

AN INHERITED B/C TRANSLOCATION IN A DYSPLASTIC GIRL WITH PARTIAL C TRISOMY

A new case of partial C trisomy with many signs encountered in other chromosomal syndromes is reported. The dermatoglyphic findings on the finger tips are discussed.     

AN INHERITED CHROMOSOME ABERRATION IN A GIRL WITH SIGNS OF DE LANGE SYNDROME

A mentally retarded girl with some signs of de Lange syndrome is described. The proposita has a chromosomal aberration, inherited from her unaffected mother. One chromosome of group B and one of group D are engaged in the translocation, and the possibility of a third chromosome being involved in this rearrangement cannot be excluded. The proposita has a partial D trisomy. The variability of de Lange syndrome is discussed.     

A RE-INVESTIGATION OF AN INHERITED CHROMOSOME ABERRATION IN A GIRL WITH SIGNS OF DE LANGE SYNDROME

ABSTRACT. Eeg-Olofsson, O. and Liedgren, S. (Departments of Paediatrics and Gynaecology and Obstetrics, University Hospital, Linköping, Sweden). A re-investigation of an inherited chromosome aberration in a girl with signs of de Lange syndrome. Acta Paediatr Scand, 70:575,.–An earlier report in this journal (1968) dealt with an inherited chromosome aberration in a girl with signs of de Lange syndrome and her family. A translocation between a 13–15 and a 4–5 chromosome, with the unbalanced proposita having an additional segment from one end of a 13–15 chromosome was found. A 6–12 chromosome involvement could not be excluded. The mother and two phenotypically normal sisters had a balanced karyotype. With modern technique a more complex translocation has been found. A part of one chromosome no. 5 is translocated to one chromosome no. 9, a fragment of this chromosome is probably translocated to one chromosome no. 13, and a part of this one is translocated to the first-mentioned chromosome no. 5. The mother and sisters have this balanced chromosomal aberration. The proposita in addition has two normal chromosomes no. 13. Thus she has a partial trisomy of chromosome no. 13. Reinvestigation of older reports on chromosomal aberrations in risk families in order to achieve a more reliable diagnosis in phenotypically normal members of the same family is emphasized.     

A case of perineal hypospadias with paracentric inversion of chromosome 14

Abnormalities of chromosome 14 are encountered infrequently in clinical cytogenetics and only few studies of paracentric inversion have been published. This paper reports the first case of hypospadias associated with paracentric inversion of chromosome 14.Abbreviations ICD inner canthal distance - OCD outer canthal distance - IPD interpupillary distance - FSH rollicle stimulating hormone - LH luteinizing hormone     

DELETION OF THE DM-DOMAIN GENE CLUSTER IN A FETUS WITH RING CHROMOSOME 9 AND SEX REVERSAL

Deletions of the distal short arm of chromosome 9 have been reported in association with gonadal dysgenesis and XY sex reversal. These findings suggest that this region harbors at least one gene that might be involved in sexual development. Recent studies narrowed the deletion interval to the subtelomeric region 9p24.3. This region contains three genes DMRT1, DMRT3, and DMRT2 characterized by a DM-domain that seems essential for sexual development in Nematoda and Arthropoda. We have investigated the possible role of this gene cluster in a fetus with ring chromosome 9 and male-to-female sex reversal. We could demonstrate by FISH analysis a very small deletion of the terminal short arm of chromosome 9 including the DM-domain gene cluster. This finding gives further evidence that hemizygosity of this region can be the cause for male-to-female sex reversal.     

THE CUTIS VERTICIS GYRATA AND MENTAL RETARDATION SYNDROME IN A 4-YEAR-OLD BOY

A 4-year-old profoundly mentally retarded boy with cutis verticis gyrata is described. He had four folds on the left parietal region, small asymmetric head, micrognathia, short neck, marmorated skin, thoracic scoliosis, spastic tetraplegia and epilepsy. Encephalography revealed marked asymmetric macroventriculy with hypoplastic brain stem and cerebellum. Thorn's test and corticotrophin stimulation test gave normal responses. The boy is the youngest patient with the cutis verticis gyrata and mental retardation syndrome described in the literature. The numerous malformations of the patient strongly support the theory of prenatal origin of the cutis verticis gyrata and mental retardation syndrome.     

A FOLLOW-UP STUDY UP TO THE AGE OF 14 OF CHILDREN WHOSE MOTHERS SMOKED DURING PREGNANCY

ABSTRACT. The children of mothers who smoked during pregnancy ( n =1819) and their controls, all born in northern Finland in 1966, were followed up to the age of 14. The children of the smokers were more prone to respiratory diseases than the others. They were also shorter and their mean ability at school poorer than among the controls. The differences remained significant after adjusting for the mother's height and age, social class as determined by the father's occupation, number of older and younger children in the family and the sex of the child. The smoking mothers were found to differ from their controls in each social class, in contrast to the situation at the time of pregnancy, now having on average poorer health, being more often unemployed and having more often left their families. Maternal smoking was still seen to have an effect on the children's physical and mental development, even when these factors were also taken into consideration in the regression analyses, although it was less important than many other socio-biological factors, and it was no more important than paternal smoking.