Biomedical subjects
Publications and source records attributed to J Martinius.
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The case is reported of a 14-year-old male who killed an 8-year-old child following an alleged insult. The subject had been known to be aggressive throughout his school career. He had suffered one nocturnal seizure at the age of 13, but he never was amnesic for any of his fights. There was a history of possible hypoxic birth trauma. Neuropsychiatric investigation revealed developmental lags in speech and other psychosocial skills and, on computer tomography, a circumscribed lesion (cystic defect) lateral to the right nucleus amygdalae.
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Detection of a patient suffering from Krabbe's disease led to carrier screening in his family. Determination of galactosylceramide beta-galactosidase activity revealed the occurrence of two different alleles among the carriers of the same family. Heterozygotes and their noncarrier relatives were studied using psychometric and neuropsychological tests under blind conditions. It was found that compared to seven adult noncarrier relatives 19 adult carriers differ significantly in their general IQ and some subtests of the Wechsler Intelligence Scale for adults (WISA), including spatial cognition. Reaction times were significantly slower in the carriers with enzyme activity below 25% of the control values. Most of the carriers of this family have had myopia since early childhood.
The psychopathology of adolescence shows three areas of dysfunction: 1. maturity deficits with an attitude of protest, loss of motivations, conversion symptomatology, 2. hypochondriac symptoms, obsessive-compulsive features, dysphorias, intellectual-physical handicaps, 3. antisocial behaviour, delinquency, neglect, addiction. 3. different courses can be distinguished longitudinally: 1. a double peak course with a disorder during childhood and adolescence with antisocial behavior, personality disorders and neurotic developments, 2. disorders during childhood which improve later (enuresis, encopresis, tics), 3. psychosis, maturity crisis, depressive reactions, obsessive compulsive syndromes.
A sample of 38 clinically unaffected carriers for various lipidoses and their noncarrier relatives was studied with biochemical, psychological, and neuropsychological tests under blind conditions. The largest group of carriers was that for metachromatic leucodystrophy (MLD). The mean activity of arylsulphatase A or cerebroside sulphatase in the obligate carriers was 25%-30% of the control values, some heterozygotes showing little more activity than MLD patients. It was found that compared with the controls all heterozygotes (both obligate and facultative) differ unfavourably in some personality traits and in WISA subtests, including capacity for spatial cognition. These differences are especially obvious in a group of seven MLD carriers from the same family. With respect to reaction times, performance was significantly slower in MLD carriers, and particularly in those with enzyme activity lower than 30% of the control values.
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Explore the source record for details and available documents.
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