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Biomedical subjects

V A Cowie

Publications and source records attributed to V A Cowie.

At least 19 recordsLinked to original sources

Neuroleptic-induced parkinsonian side effects in the mentally handicapped.

Sixty-seven neuroleptic-mediated mentally handicapped subjects in a hospital were studied to determine the prevalence of Parkinsonian side effects. A Parkinsonism scale was devised and administered. Sixty-one per cent of the sample had mild to moderately severe side effects. Sex, age, cumulative and current chlorpromazine doses, cumulative and current anticholinergic doses and anti-epileptic medication status did not predict the Parkinsonism scores. Overt brain damage was not a predictor. The difference between the neuroleptic medicated group and neuroleptic free matched controls was highly significant indicating that the Parkinsonian type of movement disorder was related to neuroleptic medication.

Adult

Plasma amino acids in patients with senile dementia and in subjects with Down's syndrome at an age vulnerable to Alzheimer changes.

Plasma concentration of tryptophan, tyrosine, leucine and thiamine were reduced in senile dementia of Alzheimer type. In Down's syndrome, where Alzheimer-type histology appears consistently at an early age, there was a definite type of abnormality, raised concentrations of isoleucine, leucine, phenylalanine and cystine. Because of the competition between amino acids for transfer into the brain, either or both of these types of change could lie in the aetiological chain underlying the development of Alzheimer pathology. Alternatively, these patterns could reflect the requirements of aberrant central/peripheral protein turnover.

Adult

Akathisia in neuroleptic medicated mentally handicapped subjects.

Sixty-six neuroleptic medicated mentally handicapped subjects in a hospital were studied to determine the prevalence of drug-induced akathisia. Tardive dyskinesia was also rated on the AIMS scale. Only motor manifestations of akathisia could be assessed as the subjective component of akathisia was difficult to elicit in this population with difficulties in verbal communication. As all the subjects had been on neuroleptics for at least 3 years, only chronic akathisia could be studied. Five subjects had akathisia. Correlational analysis did not reveal any specific associations with any of the demographic, clinical and pharmacological variables studied. A step-wise multiple regression analysis indicated that younger age could be a predictor. Tardive dyskinesia was associated in two of the subjects. The overall conclusion was that 7% of the subjects had chronic akathisia and no specific risk factors could be identified.

Adult

Hepatitis B in a hospital for the mentally subnormal in South Wales.

The resident population in a long-stay hospital for the mentally handicapped was surveyed in order to assess evidence for past and present infection with the Hepatitis B virus. The authors found a 0.5% prevalence of carriage of Hepatitis Be Antigen and do not recommend mass vaccination of staff and residents in this hospital.

Adult

The fragile-X syndrome in twin sisters.

Two mentally handicapped dizygotic twin sisters were found to possess the Fragile-X lesion. They showed different levels of cognitive deficit. The hypothesis that the level of cognitive function in female carriers of the Fragile-X lesion may be influenced by Lyonization is discussed. The mother of the twins was schizophrenic. Although she was an obligate carrier her psychosis was thought not to be causally connected with the Fragile-X status.

Adult

Folate metabolism and problem behaviour in mentally handicapped epileptics.

Two groups of mentally handicapped residents were studied consisting of 32 epileptics on anti-epileptic medication and 32 non-epileptic controls. The epileptic group showed a significantly low serum folate level compared with the non-epileptic control group. Serum vitamin B12 and behaviour rating did not show any significant difference between two groups. Comparison of patients receiving phenytoin and those who were not showed significantly lower serum folate in the sub-group receiving phenytoin, but there was no significant difference between the sub-groups with respect to vitamin B12 or behaviour problem rating.

Adolescent

Microcephaly: a review of genetic implications in its causation.

Microcephaly is a clinical sign rather than a nosological entity. It may even represent the extreme of normal variation. In pathological cases, it is always caused by an interruption of the neurobiologic processes of induction and cellular migration, or by a catastrophic insult to the central nervous system. The prime cause of this may be environmental or genetic. There is strong evidence for genetic heterogeneity, even among cases of 'true' or 'primary' microcephaly. Various taxonomies for the classification of microcephaly are discussed, taking into account environmental causation and various genetic mechanisms.

Environment

Tardive dyskinesia in neuroleptic medicated mentally handicapped subjects.

Sixty-seven neuroleptic medicated mentally handicapped subjects in a hospital were rated on two occasions for abnormal involuntary movements on three scales: Abnormal Involuntary Movements (AIMS), Rockland and Parkinsonism scales, with 6 months between each assessment. Inter-rater and test-retest reliabilities were high. The data from the second assessment was analyzed. Prevalence of tardive dyskinesia (TD) was 21% on AIMS, 42% on the Rockland scale; 60% had parkinsonism. Multiple stepwise regression analysis revealed that age, sex, current neuroleptic and anticholinergic dose, antiepileptic medication, psychosis, cumulative anticholinergic dose were not significant predictors of TD as determined by AIMS. Parkinsonism and cumulative neuroleptic dose were significant predictors of and correlated positively with AIMS score. TD subjects formed 35% of the parkinsonian group. Overt brain damage was not a significant predictor of AIMS score and the difference between the neuroleptic medicated and neuroleptic free group on AIMS scores was highly significant.

Adult

A case of mosaicism with fragile-X and XXY components.

The case of a 63-year-old severely mentally handicapped man is reported with chromosomal mosaicism. His karyotype was established as mosaic 46XY/47XXY with the fragile site present in a proportion of cells of both cell-lines. He showed phenotypic features which could be related both to the fragile-X and Klinefelter's syndromes.

Fragile X Syndrome

Neuropathology and clinical practice in mental handicap.

Neuropathological examination of post-mortem material in cases of mental handicap may give valuable clues to aetiology, natural history and the effects of long-term medication. The dating of neuropathological changes may have implications for treatment and parental counselling. A coordinated procedure to obtain such information in a routine manner is recommended. Feedback to nursing and medical staff underlines the importance of this work. Such a procedure has been instituted in Ely Hospital and the results from the first 12-month period are reported.

Adolescent

49, XXXYY chromosome anomaly in a mentally retarded man.

A case of 49, XXXYY chromosome anomaly in an adult male is reported. Features of Klinefelter's syndrome are predominant among the clinical findings. Characteristics suggestive of acromegaly have been associated with this chromosomal anomaly. Despite prognathism and an overhanging brow, acromegaly was not present in this case. Psychological traits sometimes reported in males with the XXY and XYY karyotypes were seen in this patient, but the variability of expression of these characteristics calls into question the validity of their correlation with the presence of supernumerary sex chromosomes.

Adult

Calcium homeostasis in mentally handicapped epileptic patients.

Three groups of subjects have been studied to evaluate the role of long term hospitalization and chronic anti-epileptic therapy on calcium metabolism. The first group consisted of 32 epileptic patients, randomly selected from a population of inpatients in a hospital for the mentally handicapped, receiving various combinations of anti-epileptic drugs for at least 3 years. The second group was made up of 32 non-epileptic residents of the same hospital, individually matched for age and sex with epileptic patients and who had not received any anti-epileptic drugs in the last 3 years. The third group of 22 normal subjects was randomly selected from the staff of the University Hospital of Wales, matched for age and sex against the epileptic group, who had not received any anti-epileptic medication within the last 3 years. None of the subjects received any drugs (except anti-epileptic drugs) known to have effect on calcium metabolism. Significant differences in the serum levels of the total calcium, ionised calcium, total alkaline phosphatase and its liver iso-enzyme were seen. Serum total alkaline phosphatase and its liver iso-enzyme were significantly elevated in the epileptic group, showing the effect of anti-epileptic drugs. On the other hand serum total calcium was significantly lower in both residential groups compared to the normal population, epileptics being lower than non-epileptics showing the combined effect of hospitalization and anti-epileptic drugs. No significant difference was detected among the groups in the serum concentration of the bone alkaline phosphatase iso-enzyme.

Adolescent

Developmental aspects of mongolism.

To sum up, the testing of neurological responses in our series lends support to the view that whereas psychomotor retardation is a major factor in the development of mongol babies, hypotonia is at the same time of great importance. Our study is not yet complete nor ready for statistical analysis, but the results so far seem to show that mongol babies are particularly retarded in reactions calling for muscular tone, such as posture in ventral suspension and the traction response. It is hoped that as our study proceeds, comparison of neurological with psychological findings will provide another dimension to the interpretation of results. Also we hope to see by long-term follow-up whether the early neurological testing of mongols is of predictive value as regards later development.

Child Development