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Biomedical subjects

D A Primrose

Publications and source records attributed to D A Primrose.

At least 19 recordsLinked to original sources
PubMed1996

A neuropsychiatric disorder associated with dense calcification of the external ears and distal muscle wasting: 'Primrose syndrome'.

We report a 43-year-old man with a slowly progressive neurological disorder associated with impaired intellect, general stiffening of the spine and joints, craniofacial dysmorphism, hearing loss, and massive calcification of the external ears. Extensive laboratory investigations were nondiagnostic. This patient appears to have the same disorder reported previously in two individual case reports, supporting the idea that this phenotype may represent a recognizable new clinical entity. A review of literature pertaining to calcification of the external ears is presented.

Adult↗
PubMed1986

Prevalence of the fragile X syndrome in an institution for the mentally handicapped.

In an investigation to find the prevalence of the fragile X (Martin Bell) syndrome in a mental handicap hospital, chromosomal investigations were carried out in 196 males selected out of a total of 512, and also in 20 female patients who were related to some of the selected males. Fragile X cells were found in 41 of the males and two of the females; in 21 of the males it was associated with macro-orchidism. The overall prevalence in the hospital for males (8.0%) ranks this syndrome next in importance to Down's syndrome as a known cause for mental handicap.

Adult↗
PubMed1984

Changing sociological and clinical patterns in mental handicap. The 1983 Blake Marsh lecture.

The historical development of official provision for the care and training of the mentally handicapped--both adults and children--is outlined, to show the changes between Local Authority and Government. Changes in emphasis between compulsory and voluntary admissions to institutions are discussed with particular reference to changes in the law and the administration of the services. Demographic changes due to longer survival, falling birth rate, and prevention, diagnosis and treatment of individual causes of mental handicap are discussed. Particular reference is made to Down's syndrome and to the fragile X syndrome. The need for psychiatrists in mental handicap is mentioned along with the benefit of early intervention. The numbers of the mentally handicapped needing specialist care and training are not diminishing, but the manner of provision is changing, and partly reverting to ways tried long ago.

Adolescent↗
PubMed1983

Phenylketonuria with normal intelligence.

A review was made of the literature with respect to cases of untreated phenylketonuria (PKU) with normal intelligence. Six families were found in which a person with classical PKU and normal intelligence, and a sibling with PKU and severe mental handicap had been reported. Details are given of another similar family, and possible reasons are discussed for the preservation of intelligence in the affected individual with an IQ of 82. Among the reasons proposed are breast feeding, which has a low phenylalanine level and a raised biopterin level, which may help in the production of brain neurotransmitters. Studies of similar cases are suggested.

Adolescent↗
PubMed1982

A slowly progressive degenerative condition characterized by mental deficiency, wasting of limb musculature and bone abnormalities, including ossification of the pinnae.

A condition is described in a 33-year-old Caucasian male in which there is severe mental deficiency present from an early age. There is non-progressive hydrocephaly and the eye findings include posterior polar cataracts. There is slowly progressive muscle wasting of the limbs along with degenerative bone changes. Ossification has occurred in the pinnae. Secondary sexual characteristics are underdeveloped and there is a low normal serum testosterone. The parents are not related and there is no similar occurrence in the family. Biochemical investigations do not show any abnormality, and the chromosome picture is that of a normal male karyotype. The case appears to be unique.

Adult↗
PubMed1982

Cryptorchism in cerebral palsy.

This study examined an association between cerebral palsy and cryptorchism. Twenty-one (53.8%) in a group of 39 severely disabled males exhibited cryptorchism to a varying degree. A striking feature was the high proportion with an impalpable testis on one (15.4%) or both (7.7%) sides. Early damage to the fetal hypothalamo-pituitary axis is suggested as the likely causative factor.

Adolescent↗
PubMed1979

Treatment of self-injurious behaviour with a GABA (gamma-aminobutyric acid) analogue.

Self-injurious behaviour (SIB) is not uncommon in the severely subnormal. Corbett (1975) found the incidence in several reported series to vary between 3.5 per cent and almost 40 per cent, and Van Velzen (1973), in a survey of ten institutions in the Netherlands, found it present in 584 patients out of almost 2,000 (30.3 per cent). Treatment is notoriously difficult and many kinds have been tried including physical restraint, drug regimes, and electric shock aversion therapy. An account is given here of a drug trial using baclofen, a gamma-aminobutyric acid (GABA) analogue that crosses the blood brain barrier. GABA, in addition to being a muscle relaxant, is also a major inhibitor in many areas of the brain, including the cortex and basal ganglia (Callingham, 1972) andit was presumed by the author that some severely subnormal defectives have damage in these areas and hence might be deficient in this inhibitor. The trial commenced with a preliminary period during which the reactions of patients to the drug at different dose levels were observed. This was followed by a double-blind cross-over trial in patients who had already shown improvement.

Adolescent↗