Progressive ataxia in Swedish children: a re-evaluation study.

The results of follow-up of 76 children with progressive ataxia first reported in 1988 are described with special reference to type of potential underlying metabolic diseases. In 70% of cases the clinical follow-up did not lead to reconsideration of diagnoses. Six of 23 biochemically and morphologically re-examined children got a new and definite diagnosis: 1 myoclonic encephalopathy with ragged red fibres, 2 carbohydrate-deficient glycoprotein syndrome, 1 neuroborreliosis, 1 Hallervorden-Spatz disease and 1 leucodystrophy. Different clinical groups are discussed.

Neurological outcome of twins dissimilar in size at birth.

The neurological outcome of dissimilar twins was studied in 22 pairs of babies having a birth weight difference of 25% or more (mean 1748 vs. 2531 g). In weight, height and head circumference no statistically significant difference could be found at the study time (mean age of the children 9.4 years) between the groups. In gross motor performance and mean school age grades there were no differences but in fine motor performance-balance-coordination (P less than 0.02) and visuomotor perception (P less than 0.01) a statistically significant difference was found favouring the larger group. It is concluded that dissimilarity carries an increased risk for signs of minimal brain dysfunction in the smaller twins.

The nosologic panorama of progressive ataxia in Swedish children.

Described are 76 children with a picture of progressive encephalopathy and ataxia as the principal or joint principal leading signs. The series was hospital-based in Gothenburg between 1973 and 1983, and not representative for epidemiologic analyses. The children were divided in groups by using a combined pathogenetic and clinical grouping system: lysosomal disorders (6 children), non-lysosomal lipid disorders (10), intermediary metabolic disorders (3), heredoataxias (22), phacomatoses including Louis-Bar (5), dysimmune encephalopathies (6), other defined disorders (19) and undefined or incompletely defined conditions (5). Different groups are discussed and, according to this material, a diagnostic pathway is drawn up.

Quantitative vibratory perception thresholds of healthy and epileptic children.

Quantitative vibratory perception threshold (VPT) measurements were performed on 102 healthy children and 79 children receiving anti-epileptic medication. Their ages ranged from three to 16. The VPTs correlated significantly with age and height. The rise in VPT with age may be associated with decreased receptor density. The level of mental alertness seemed to have no significant effect on vibratory perception. Only three of the children on anti-epileptics showed elevated VPTs. On the basis of this study, epileptic children seem to be free of the adverse effects of medication which occur later in adulthood. Children as young as three or four are quite capable of co-operating in this examination. The method can be recommended for use in follow-up studies of children and as a diagnostic aid when a disturbance of the sensory tract is suspected.

Salla disease variants. Sialoylaciduric encephalopathy with increased sialidase activity in two non-Finnish children.

The case reports of two Swedish girls with initially pseudostationary clinical pictures, one simulating ataxic and the other dyskinetic cerebral palsy, are presented. It was eventually revealed that they had a slowly progressive encephalopathy with pronounced gross motor disability and signs of severe dyskinesia, but only mild intellectual delay. Electron microscopy of skin biopsies showed a picture identical to that in Salla disease. They had a moderately increased 5-10 fold urinary free sialic acid excretion, increased sialidase activity in lymphocytes but normal activity in cultured fibroblasts. These two Swedish cases represent variants of Salla disease, a group of conditions with probable genetic heterogeneity.

Treatment of obese schoolchildren.

61 obese schoolchildren aged seven to 15 years were treated in the Department of Paediatrics, University of Turku, Finland, in years 1976 to 1980 for their obesity. The treatment was based on diet and increased physical exercise. The duration of the treatment was two years. The children were divided into two different groups: the active group (41 children) which had ambulatory checkups very frequently (22 times) and the nonactive group (20 children) with only eight ambulatory check-ups during the treatment (p less than 0.001). The results in the active group were significantly better than in the nonactive group (p less than 0.01). Also the physical performance and the carbohydrate and lipid metabolism were studied before and after treatment period. Weight reduction resulted in an increase in the physical performance to a normal level and the carbohydrate and lipid metabolism changed to a "healthier" direction.

Decreased heart rate variation in decerebration syndrome: quantitative clinical criterion of brain death?

Heart rate variation (HRV) was measured in 12 children with brain death. Computer analysis demonstrated an overall heart rate variation (RMSM) of 3.5 to 9.6 msec (mean, 6.0 msec). The respective figures for beat-to-beat variation (RMSSD) were 4 to 16 msec (mean, 7.7 msec). Normal infants (RMSM, 20 to 30 msec) and children (RMSM, 50 to 90 msec) and infants with respiratory distress syndrome (RMSM, 10 to 20 msec) have a clearly higher HRV than those with brain death. In all subjects a periodic component of the HRV with a cycle length of 5.9 +/- 0.26 seconds was discovered. In five patients an additional periodic component was found that corresponded exactly to the rate of artificial respiration. This study demonstrated the value of accurate digital techniques in the characterization of fixed heart rate in decerebration. This phenomenon could be considered one clinical criterion of brain death.