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The characteristics of a group of 17 mentally retarded institutionalized individuals (ages 6 to 51) with self-injurious behavior (SIB) were compared with those of 14 patients without SIB. Among findings were that 65 percent of the SIB group were females, that the SIB group had an elevated pulse rate, and that they slept less. (PHR)

This article focuses on serum cholinesterase in the case of persons with Down's syndrome. Serum cholinesterase is synthesized by the liver, and studies on normal liver sections by various researchers indicated that it is evenly distributed in the lobules and cytoplasm of individual hepatic cells. It has been known for some time that Down's syndrome is accompanied by gross changes in the histology and morphology of the liver but subsequent biochemical studies relating changes in liver function to abnormal structure have been conflicting.

This article determines serum cholinesterase phenotypes in a person with Down's syndrome. Dibucaine, fluoride and RO2-0683 inhibition studies were used to determine the serum cholinesterase phenotypes in a sample of 130 subjects with Down's syndrome and fifty-three mentally retarded control subjects. The means and distribution of the dibucaine, fluoride and RO numbers in both groups were similar to those reported in normal subjects. The presence of the additional G-group chromosome in Down's syndrome has suggested to several investigators the possibility of altered protein metabolism.

The article presents information on a case of trisomy. In 1962 J. S. Hamerton, G. Jagiello and B. K. Kirman have published the results of a sex chromatin survey of the patients at the Fountain hospital. Three patients were described in detail and one of these was a girl aged thirteen years. She had been diagnosed as a case of turners syndrome and then was found to be chromatin positive. Patient's delivery was normal after a surgical induction for toxaemia of pregnancy two weeks before term. The day after birth she had a cyanotie attack, and the following week had spasms in which all limbs went still, the face became pale and the limbs cyanosed.

The article focuses on a research in which quantitative levels of seven of the acute-phase (AP)reactant proteins were measured in the plasma of a sample of fifty-four adults all diagnosed as suffering from tuberose sclerosis and compared to that derived from a group of control subjects resident in a hospital for the mentally subnormal. The term acute-phase reactants is generally limited to those plasma proteins whose concentrations are significantly altered in response to the acute phase of an inflammatory process, in response to injury, infarction, surgery, infection, the collagenoses and in neoplasms. The mechanisms bringing about changes in the plasma concentrations of the AP-reactants are not clearly understood, although it has been suggested that tumour necrosis may be involved.

The article reports on a research in which serum levels of alpha macroglobulins (MG) were determined by radial diffusion in fifty-four cases with tuberose sclerosis and compared with forty-seven institutionalised control subjects of similar age and sex distribution. Although higher levels of alpha MG were found in the females of both groups when compared with the males, this increase was not significant. Decreased levels of alpha MG have been described in a number of pathological conditions such as multiple myeloma and juvenile rheumatoid arthritis, and elevated values have been reported in telangiectasie ataxia and especially in lipoidic nephrosis where it may contribute as much as fifty per cent of the total plasma protein.

The article reports that there is now a strong body of evidence that adult men and women lose bone as they grow older. Although a number of bones have been suggested as suitable for measuring, the use of the metacarpals has attracted a number of investigators as they are roughly tubular in cross-section at their mid-points and have cortices which are generally thicker than their medullae. The limitations of studying the age-related changes in bone mass from one bone are self-evident. It is impossible to eliminate completely the effect of variation in the shape and size of the bone no matter which site is chosen.

The article reports two unrelated, mentally retarded boys with reduced stature, characteristic facies, large, soft hands, pectus carinatum, lax ligaments and skeletal anomalies affecting the skull, vertebrae and other bones. Researchers found the condition to be always milder in affected females and, when transmitted, it was transmitted by mothers who showed some features of the syndrome. All affected males were severely mentally retarded. They suggested autosomal dominant inheritance with reduced expression in females, but pointed out that sex-linked inheritance could not be ruled out as there was no example of transmission through a male.

The article presents a case study of a small, profoundly mentally handicapped woman of thirty-eight who has been found to have one chromosome No. 22 replaced by a ring. Details are given of her behaviour, anthropometry, dermatoglyphics, karyotype and biochemistry with extensive investigations of her blood proteins and enzymes. Other described cases of ring 21 and 22 are reviewed. There is so much variability among the ring 22 chromosomes that it is not considered justifiable to speak of a ring 22 syndrome.

This article cites a study investigating the association of serum and red cell phenotypes and hepatitis-associated antigen in Down's syndrome. The increased frequency of the Australian antigen, or hepatitis-associated antigen (HHA), has been repeatedly found in Down's syndrome populations. Several observations in Down's syndrome suggested the impairment of the immune response mechanism. The presents study was performed over 246 patients with Down's syndrome who were resident in two large institutions for the mentally subnormal and drawn from London, England, and the surrounding area. All were in good health and showed no clinical evidence of chronic hepatitis, all were trisomic from chromosome No. 21 as confirmed by cytogenetic examination of peripheral blood. The presence of HAA was detected by counterelectrophoresis and 25 ml of a one per cent solution of agarose in barbitone-sodium barbiturate buffer were poured on to plates 130 X 80 mm and after cooling, wells 2 mm diameter were cut in pairs 2 mm apart, one of each pair of wells being filled with the serum under test and the other with an antiserum specific to HAA. The effect of age and maternal age were investigated in the haptoglobin system but no differences were found.

The article presents a study that focuses on skeletal development in children with Down syndrome. The study investigates the difficulty in reconciling the evidence with several claims that the centers of ossification become radiologically visible at normal or early age. In the field of general anthropometry there is some evidence of a catch-up phenomenon in the growth of children with Down syndrome. In the study, all the subjects with Down's syndrome aged 0-18 years were under constant medical supervision. Diagnosis was confirmed by chromosomal analysis, 154 patients had trisomy G and two showed mosaicism.

The article discusses the case of a male patient with D-ring chromosome, whose postmortem investigation have been available. The patient was born on May 13, 1952 three weeks prematurely, to a mother of 22 and a father of 25. During infancy he had measles, German measles and chicken pox. The propositus was admitted on September 16, 1969 at the age of 17 years. He remained well, except for occasional fits, until December, then developed mild pyrexia and appeared tense and nervous, and occasionally vomited his food, vomiting being projectile.

This article presents information about a case of ring chromosomes in a mentally subnormal girl. Ring chromosomes in human subjects are rare and, in most published reports, have involved the X-sex chromosomes and the D and E group autosomes. In the discussed case, at the age of sixteen-and-a-half-years, this girl was of 147 cm. in height and 62 kg. in weight. She had unattractive appearance and without obvious deformities. Neurological examination revealed very brisk knee and ankle jerks and the right plantar reflex was equivocal. The cranial nerves were normal as far as could be judged, and there was no evidence of auditory or visual defect. Dermatoglyphic analysis did not reveal mongol or anti-mongol features.

This article focuses on a study which was conducted to assess the involvement of the thyroid in the causation of retarded growth. Data on serum thyroxine-iodine, creatinine phosphokinase, cholesterol and alkaline phosphatase in 54 mentally retarded girls and 73 mentally retarded boys aged 4-18 years are analyzed with reference to linear growth, weight and skeletal development. Of the 127 cases, 15 were found to be hypothyroid, 13 of which were on or below the 25th percentile of normal height for age. In an attempt to ascertain whether or not the hypothyroidism was a transient feature of childhood, 330 unselected adult males were also investigated, of which 22 cases could be classified as hypothyriotic.

This article cites a study determining the influence of retarded maturation on growth abnormalities in the mentally defective girl. This investigation makes an attempt to assess the part played by the delay in onset of puberty in the retardation of linear growth in a group of adolescent mentally retarded girls. Delay in maturation is associated in many cases with retarded linear growth common in the mentally retarded, but there are some children who may be small but appear to mature at the normal rate. Conversely, there are, among those girls maturing late, examples of normal growth patterns.

The article presents a case of the occurrence of ring chromosome 18 in a mentally retarded boy. A male child was born to healthy parents following uneventful pregnancy and delivery. Fairly severe jaundice developed quickly after birth and lasted 5-6 weeks. The infant was born without eyebrows or eye lashes, which appeared at the age of 6 weeks. A severe attack of eczema developed at six weeks and there have since been mild recurrences. At one year he developed otitis media. Since the first year he has manifested a tendency to attacks of bronchitis and usually has several attacks in winter.

Presents the results of a case study on urine levels of leucine naphthylamidase in patients with sex chromosome abnormalities. Factor which makes concentration of the urine prior to electrophoresis obligatory; Method used to estimate the urinary leucine aminopeptidase levels in the patients; Reason behind changes in the excretion rates of specific chromosome abnormalities.

The article presents the findings of a study concerned with serum glycoproteins and tuberous sclerosis. In the study, total glycoprotein concentrations, hexosamines, non-glucosamine polysaccharides and sialic acid were estimated in 18 cases of tuberous sclerosis and compared with a similar number of healthy mentally retarded controls. In no fraction was there any significant quantitative difference between the groups. Cellulose acetate electrophoresis also failed to detect any significant changes within the sclerosis group.

Presents a study on enzymes found in serum and serum protein fractions to determine the chemical pathology of tuberous sclerosis. Methods; Estimation of the fractions of the serum proteins; Results of the study; Findings on the reduction in alkaline phosphatase in the tuberculosis sclerosis patients.

This article presents a study to determine the estimation of protein-bound iodine in plasma or serum. The estimation of protein-bound iodine in plasma or serum is, at present, the nearest to direct assay of the circulating thyroid hormone. It is thus surprising that very little has been reported on the protein-bound iodine levels in phenylketonuria. The seventeen phenylketonurics were aged 14-55 years. The diagnosis in each was confirmed by amino-acid analysis. All were in good health and no drugs were administered either during or immediately prior to the investigation.

This article presents a study to determine if uric acid metabolism was involved in some inherited conditions known to give rise to mental retardation. Both male and female controls were drawn from the same population as the test cases. All were in good health and free from any known metabolic diseases. Ten adult female and nine adult male phenylketonuric patients were in good health and untreated. Serum uric acids were estimated on fresh serum by the procedure described in Sigma Technical Bulletin No. 680. This involved the reduction of phosphotungstate by uric acid and the colorimetric estimation of the resulting blue complex. Urine uric acid was determined on nine adult phenylketonurics using essentially the same method but on a five-fold dilution of urine.

This article focuses on a study related to the endocrinological aspects of mental deficiency. Disturbances in growth and maturation have been reported as incidental findings by many workers in the field of mental subnormality. In a study, out of 47 cases of sexually immature dwarfs, 19 showed apparent mental retardation. Several distinct syndromes have been reported involving both dwarfism and mental deficiency. These include progeria and cachetic dwarfism. All the cases (156) were between the ages of 7 and 20 years and were permanently resident in a hospital for mental defectives. All were under constant medical supervision, in good health and free from physical deformities. Failure of testicular descent was accepted only when the scrotum was found to be empty on two or more examinations. This rigid criterion was adopted because experience showed that in the younger patients there were several cases.

This article cites a case study related to Rud's syndrome. A case of irhthyosis with infantilism, oligophrenia and an epileptic diathesis occurring in a young male adult is described together with details of investigations carried out, especially those of a biochemical and anthropometric nature. The diagnostic label of Rud's syndrome has been applied to a clinical picture, which is too varied to be regarded as a single syndrome. Researchers suggest that ichthyosis and infantilism should be essential features of the syndrome and that oligophrenia and epilepsy may be commonly associated with it. The endocrine abnormality is possibly one of selective pituitary gonadotrophin failure. It is probable that the brother of the case of Rud's syndrome researchers have reported is similarly affected, which suggests sex-linked inheritance in this family.

This article cites a study determining endocrinological aspects of mental deficiency in adult males. Researchers in this study measured the testicular size in three specific groups of adult defectives. Results showed that the frequency of failure of descent of testicular migration in adults with mongolism is no greater than in other groups of mentally retarded patients. The discriminate androgyny score 2 of the mongol group was significantly lower than either the familial or the control group. No significant difference could be demonstrated between the familial and undifferentiated groups. Failure of testicular descent in mongolism differed little from other groups of mental defectives.

This article focuses on the endocrinology of mental deficiency. It inevitably leads to the role of the endocrine glands in mongolism, as this condition constitutes the largest single recognisable abnormality in any mental defective population. Although considerable biochemical investigations have been carried out on mongols, the whole field of steroid metabolism has been neglected in the past. All the mongols investigated (82 male and 48 female) were permanently resident in one of four Mental Deficiency Hospitals, under constant medical supervision and were in good health. The ages of both male and female mongols ranged from 15 to 51 years.

The article focuses on a familial hormonal disorder associated with mental deficiency, deaf mutism and ataxia. Two sisters suffering from a familial hormonal disorder have been in a hospital for many years and were examined in 1935 by Kinnier Wilson, a physician, who diagnosed a degenerative condition resembling Friedreich's ataxia. The parents are second cousins. The mother had fourteen pregnancies which resulted in one miscarriage and the birth of eight normal and five affected children. The mother, aged 64 years, has become hard of hearing recently but is otherwise in good health and is of normal intelligence.

The article describes the case of a family in which there are two sisters with ichthyosis, spastic diplegia and mental deficiency. The symptoms are present in varying degrees of severity but partial or reduced syndromes are not found in other members of the family. It is perhaps worthy of note that the more mildly afflicted of the two patients is less severely affected in respect of all three characteristics of the disease. The skin of the hands and feet of the patients are smooth, atrophic and shining.