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The article presents a study on the prevalence of phenylketonuria and some other metabolic disorders among the mentally retarded patients in the country. The total number of subjects examined was 2,090. The majority were profoundly, severely or moderately retarded. A random urine sample from each patient was collected in a test tube or adsorbed onto a small piece of filter paper. At the same time a few drops of capillary blood were adsorbed onto a similar filter paper strip. One-dimensional paper chromatography of urinary amino acids was performed using the creatinine value as the measure of urinary output and a mixture of n-butanol, acetic acid and water as the solvent.

This article cites a case-report of sex chromosome abnormalities in mentally retarded male offenders including a psychological study of patients with XXY and XXYY karyotypes. In recent years several research papers have described cases of sex chromosome abnormalities in patients from Danish state hospitals, special security hospitals and youth prisons. Since the first publication of the observation of a 47,XYY male in 1961 by the Danish National Service, several investigations of Klinefelter's and Turner's syndromes have been reported. For this study, all patients present on a given census day in special security wards of two Danish institutions for the mentally retarded and all criminal patients contacting one open institution during an eighteen-month period were examined for chromosomal abnormalities. Intelligence quotients of 99 criminals were calculated that varied according to sex chromosome constitution. Eight patients with sex chromosome abnormalities were found. Of these, the karyotype was 47,XYY in six cases, 47,XXY in one case, and 48,XXYY in one case.

The article reports on the prevalence of aspartylglycosa minura in Sweden. For several years urinary samples for assay of glycosaminoglycans have been sent from many hospitals in Sweden to laboratory. High-voltage electrophoresis has been used with good results by several authors for the screening of urinary amino acids in metabolic disorders. Urine samples from 668 Swedish children with progressive psycho-motor retardation and in some cases, skeletal changes and vacuolated lymphocytes, were assayed with high-voltage paper electrophoresis.

This article focuses on matters related to hyperglucaricaciduria. The case, to be described, was discovered during the course of a screening survey, carried out in a large mental deficiency hospital, for signs of biochemical abnormalities in the blood plasma and urine of the patients. One of the tests performed was designed lo show any unusual pattern of purine excretion and for this purpose a small sample of urine was subjected to high voltage electrophoresis on paper.

Ring formation in a chromosome of the C-group has been described for an X-chromosome in females with gonadal dysgenesis and its associated anomalies (Lindsten, 1963). Next in frequency are reports of patients with ring formation of a chromosome in the D or E groups. It is of interest that, to our knowledge, no ring formation has been reported in spontaneous abortions (Inhom, 1967). Three case reports have appeared describing the occurrence of a C-group ring chromosome in males (Turner, Jennings, den Dulk and Stapleton, 1962; Atkins, Pant, Hazard and Ouellette, 1966). A further case is known to us through a personal communication of Dr. H. Punnett. In this paper we report clinical, cytogenetic and other laboratory findings in a young boy with a C-group ring chromosome, and similar studies in his parents and sibs. [ABSTRACT FROM AUTHOR]

Investigates mono-aminodicarboxylic acids and their half amides and total amino acids in urine and serum of mentally subnormal children using a one-dimensional paper chromatographic technique. Mean values and distribution of glutamic acid values in the serum; Chemical balance between glutamic acid and glutamine; Mean values and distribution of the quotient glutamic acid and glutamine in the serum; Mean values and standard deviation of the amino acids in serum.

The article presents a paper discussing chromosomal mosaicism in two Japanese children with Down's syndrome. The first case was of a six year old boy whose first dentition was at 16 months and first steps at two years ten months of age. A physician noticed retardation of mental and physical development at age three. The physical symptoms revealed an atypical case of Down's syndrome. Mental age at the age of six was about two years. The second case was a five-year-old female, who was delivered by Caesarean section.

This article presents a study on methods used in testing the presence of the phenylketone and phenylpyruvic acid in mentally retarded patients. A method called Guthrie technique is used widely. The technique depends on the fact that the inhibition of growth of Bacillus subtilis by beta-2-thienylalanine in a minimal culture medium, is specifically prevented by phenylalaninie phenylpyruvic acid, and by phenyllactic acid. Whole blood was collected either by finger or ear prick directly on to a specially prepared card of particularly absorbent fitter paper. The test can be used in mass screening of neonates, screening of institutionalised mental defectives, and for the treatment of phenylketonuria.

The article presents a paper that describes a four-year follow-up study on the influence of serum bilirubin levels upon the ultimate development of low birthweight infants. First, zero order correlations were computed between all nine variables for each of the sexes and for the entire group. There were no striking correlations between the peak serum bilirubins and the examination at three and fours years of age. Second, the infants were divided into those with peak bilirubin levels above and below 18 mg per cent. There was no significant difference in the examinations carried out at 3 and 4 years between the two groups.

The article presents a paper that proposes to determine if the age of appearance of the ossification centers of the trapezium, trapezoid, and the epiphysis of the ulna in children with Down's disease differs from that of normal children. Considerable controversy exists regarding the rate of ossification of the bones of the hand and wrist in children with Down's syndrome. Six-year serial data on sixteen boys and eleven girls with Down's disease indicated that the age of onset of ossification of the trapezium, trapezoid and distal epiphysis of the ulna was markedly delayed over that of normal children. Children who were non-ambulatory at the time of initial X-raying had for the most part the greatest delay in age of appearance of these centers.

The article reports on a study related to an oral vocabulary of the severely subnormal carried out during 1958 and 1959. In this paper the methods of obtaining the vocabulary list of 2,419 different words are described, and two hypotheses are advanced to account for certain findings in connection with "core" vocabulary, i.e. words of high frequency in the final vocabulary list, and the relationship between the sizes of individual vocabularies of different words and mental and chronological age. It is hoped that the list of words, which occur frequently in the vocabulary of the subnormal, will be of value to those who educate and train these patients.

The article presents a study, which examined the occurrence of aspartylglycosaminuria in Poland. To this end, a survey of 1,792 low-grade mentally retarded children in Polish institutions was carried out, using two-dimensional paper chromatography for amino acids. The sample examined was found to contain no subjects with aspartylglycosaminuria, but there were fifty-six with phenylketonuria. It was concluded that aspartylglycosaminuria is rarer in Poland than in Finland. In Finland, it is evidently common than in other parts of Europe.

The article presents information on the entry for Burden Research Medal and Prize which is open to all registered medical practitioners who are working in the field of mental subnormality in Great Britain or Republic of Ireland. The award for 1974, total value 250 pound, may be presented at Stoke Park Hospital on or about the April, 1974, for outstanding research work which has been published, accepted for publication or presented as a paper to a learned society during the three-year period ending on December 31, 1973.