Neuropsychological test battery in the follow-up of patients with juvenile neuronal ceroid lipofuscinosis.

The aim of the present study was to develop a neuropsychological test battery for patients with juvenile neuronal ceroid lipofuscinosis (JNCL) and to study the development of cognitive functions during the first 5 years after diagnosis. Fourteen patients with JNCL entered the study. Nine patients were homozygous for the major mutation, whereas five were compound heterozygotes. All patients were studied annually with a special neuropsychological test battery (NEPSY) adapted from Luria's neuropsychological test, and modified for the visually handicapped; the Wechsler Intelligence Scale for Children - Revised (WISC-R) was also included. The neurological examinations were scored. Furthermore, 1.OT magnetic resonance imaging scan was performed at the beginning of follow-up and after a mean of 5 years. A decline in verbal IQ (WISC-R) during the follow-up period was found in all subjects except one compound heterozygous male. Short-term memory and digit memory span were already impaired at an early stage of the disease. Orientation to time was found to decline more than orientation to person and place. Motor speed usually became impaired after 10 years of age. Spatial orientation was impaired only in the patients homozygous for the major mutation. The test battery was found to be reliable and easy to use, and offered valuable information on the progress of the disease. It also provided important guidelines for rehabilitation.

Short-term and long-term initial stay in hospital of children with insulin-dependent diabetes: adjustment of families after two years.

A randomized prospective trial on the effect of the length of initial hospital stay (23 +/- 4 days and 9 +/- 3 days) in 61 consecutive children with newly diagnosed diabetes was carried out. Since the metabolic outcome was similar in the treatment groups for the first two years, we analyzed the adjustment and subjective well-being of families to the diabetes after a two-year follow-up period. A semi-structured interview by a psychologist who was blinded to the initial treatment length and medical history of the child showed that 74% of the families in the short-term and 58% in the long-term treatment groups had good overall psychosocial ability to function (ns); there were no unusual fears in 37% and 15% of the families (ns), respectively. After short-term treatment, families needed slightly but not significantly less time to be confident about the management of diabetes in the family. These findings show that the short-term initial hospital stay does not unfavorably affect the adjustment of the family to diabetes and should probably be preferred over the long-term initial hospital stay.

Experience over 17 years with antioxidant treatment in Spielmeyer-Sjögren disease.

During the last 17 yr, 74 patients with Spielmeyer-Sjögren disease were treated in Finland with antioxidant supplementation. Twenty-seven patients received a combination of vitamin E, vitamin C, methionine and BHT. As the disease began to progress, the treatment was changed to a combination of sodium selenite and vitamin E in 14 of the 27 patients. The same combination was also given to 47 children (During the last 5-6 yr, vitamins B2 and B6 were also added.) who had not received previous antioxidant supplementation. The latter combination (called the Westermarck formula) appeared to be helpful to some patients. Statistical correlations between various neurological items and relevant laboratory data were sought. In the older patients a significant correlation was found between neurological dysfunction and ceruloplasmin, and also between epilepsy and ceruloplasmin, while a negative correlation was noticed between neurological dysfunction and glutathione peroxidase. In the younger patients, a negative correlation was observed between superoxide dismutase and epilepsy. Serum apolipoprotein B levels were below the normal range in the 6 patients investigated. So far the Westermarck formula seems to have been the best treatment devised yet in Spielmeyer-Sjögren disease, but further studies are needed for a better understanding of the pathogenesis of neuronal ceroid-lipofuscinoses disorders.

Antioxidant treatment in Spielmeyer-Sjögren's disease.

The data for 125 patients with Spielmeyer-Sjögren's disease is presented. Antioxidant therapy was given to 49. 27 received a combination of vitamin E, vitamin C, methionine and BHT. As the disease began to progress, the treatment was changed to a combination of sodium selenite and vitamin E in 14 of the 27 patients. The same therapy was also given to 22 children who had not received previous antioxidant supplementation. The number of positive and negative responses was nearly equal in the 2 treatment groups. However, the quality of the response was better in the selenite group and it has been possible in some cases to stop for several years, at least, the deterioration which began during the original therapy.

Experience of antioxidant treatment in neuronal ceroid-lipofuscinosis of Spielmeyer-Sjögren type.

A therapeutic trial with antioxidants in neuronal ceroid lipofuscinosis (NCL) of Spielmeyer-Sjögren type is presented. The series consisted of 46 patients, 23 of whom received antioxidants while 23 served as controls. At the start of the trial the patients were classified into two groups on the basis of their IQs. Eleven children, aged 6 1/2 to 12 years, were of low normal or subnormal intelligence (treatment group I). After an observation period of 5 to 6 years a significant change in IQ was seen in 6 children; an improvement was noticed in 2 boys and a deterioration in 4 patients. The IQs were higher, the neurological signs less marked and epilepsy less frequent among the patients receiving antioxidants than among the controls. The therapy did not benefit vision and it was unsuccessful in advanced cases. The results are discussed and compared with those reported by other authors.