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Biomedical subjects

O Skjeldal

Publications and source records attributed to O Skjeldal.

15 recordsLinked to original sources
PubMed2006

IgA antibodies in Rett syndrome.

The level of IgA antibodies to gluten and gliadin proteins found in grains and to casein found in milk, as well as the level of IgG to gluten and gliadin, have been examined in 23 girls with Rett syndrome and 53 controls. Highly statistically significant increases were found for the Rett population compared to the controls. The reason for this remains unknown, but because IgA antibodies reflect the uptake of proteins and/or epitopes of proteins from the gut, this may be indicative of increased protein uptake.

Adolescent↗
PubMed2002

Urinary peptides in Rett syndrome.

Rett syndrome is a neuro-developmental disorder related to autistic behavior. Persons with autism have previously been found to have hyperpeptiduria. We here report a significantly higher level of peptides in the first fasting morning urine from 53 girls with Rett syndrome (both classical and congenital) compared with 53 healthy girls. This elevation in urinary peptides was similar to that in 35 girls with infantile autism. As in persons with autism, the individual levels of urinary peptides in the Rett syndrome group varied, and about a fifth were within the normal range. Levels of peptides were lower in girls with classic Rett syndrome than in girls with congenital Rett syndrome. This may be due to different etiological causes or to active and stagnant phases of the disease. Urine from girls with Rett syndrome was found to have higher frequency and higher levels of some urinary peptides that may cause inhibition of brain maturation and epilepsy

Adolescent↗
PubMed1999

[Guillain-Barre syndrome. Current treatment principles in the light of clinical aspects].

The Guillain-Barré's syndrome, or acute polyradiculoneuropathy, is a monophasic neurological disease affecting 50-100 persons a year in Norway. In addition to peripheral paresis, respiratory and autonomic disturbances may occur. We present 22 patients, mean age 34.8 years, including four children between four and six years of age, who all received plasma exchange treatment. All our patients reported symptoms of a modest infection average 19 days before the neurological symptoms appeared. All patients had walking difficulties, half of them were unable to walk without assistance. There were cranial nerve findings in 18 patients, and nine had autonomic disturbances when admitted. All except one had increased protein contents in the spinal fluid as well as pathological findings in electrophysiological investigations. They received on average 8.6 plasma exchanges. In spite of such treatment, the total mortality rate has not decreased substantially. Two of our patients died, and three developed severe permanent paresis. Further studies on pathogenesis will be required to increase treatment success.

Adult↗
PubMed1998

Autism and related disorders: epidemiological findings in a Norwegian study using ICD-10 diagnostic criteria.

Recent studies of the prevalence of autism have suggested higher estimates than previously described. Various diagnostic criteria for autism and related disorders have been applied, with variability in case finding methodology and characteristics of populations as well. In this study, maternal and child health clinics covering 98% of the population were used for screening pervasive developmental disorders. Extensive medical investigation was carried out on the majority of cases. In this Norwegian population of children ages 3-14 years the minimum prevalence estimate for childhood autism was 4-5 per 10,000 using ICD-10 research criteria, and did not confirm the high estimates suggested more recently. Medical disorders identified were associated with mental retardation rather than specifically with autism.

Adolescent↗
PubMed1996

Neuropsychological and linguistic follow-up studies of children with galactosaemia from an unscreened population.

Many galactosaemics appear to have neuropsychological and/or linguistic problems in spite of dietary treatment. Because the neonatal screening program in Norway does not include galactosaemia, we have re-examined Norwegian galactosaemics. Of 16 known patients, 8 patients participated in the study. They had been diagnosed between 2 and 11 weeks of age, and were between 9 months and 19 years old at the time of this study. All had very low or 0 activity of galactose-1-phosphate uridyl transferase. As part of the study all were examined neurologically, and had an age-appropriate developmental/IQ test, an ABR and an EEG, and a comprehensive psycholinguistic evaluation. The three youngest patients had normal developmental/IQ tests, while the five older patients had IQ scores in or below low range of normal. The majority had delayed language development and three patients were classified as having verbal dyspraxia. ABR and EEG showed mild pathology in the oldest patient only. Galactosaemia appears to be associated with significant risks of developmental and language delays in this unscreened population.

Adolescent↗
PubMed1996

Clinical outcome in four children with metachromatic leukodystrophy treated by bone marrow transplantation.

Four children with metachromatic leukodystrophy (MLD) underwent allogeneic bone marrow transplantation between 1988 and 1993. No effect on the natural course of the disease was observed in two children with late infantile and juvenile MLD. They had moderate neurological symptoms at the time of BMT and were followed for 7 and 6 years, respectively. The third child with the juvenile form of MLD was mildly to moderately affected when transplanted. She had lost some gross motor functions as well as speech and mental abilities at follow-up 3 years later. The fourth case, diagnosed biochemically and presymptomatically as late infantile MLD, had a subtle gait disturbance when grafted at 18 months of age. Demyelination, not observed before BMT, was visualized 1 year later on MRI. This boy's condition has continued to deteriorate 2 years after transplantation. We have adopted recent recommendations that BMT should be considered only in presymptomatic children with late infantile MLD or early in the course of juvenile MLD. In such children, still longer follow-up periods are necessary to evaluate the benefit of BMT.

Bone Marrow Transplantation↗
PubMed1995

Aplasia cutis congenita associated with limb, eye, and brain anomalies in sibs: a variant of the Adams-Oliver syndrome?

Aplasia cutis congenita (ACC) may occur in isolation or with other congenital malformations. Peripheral limb anomalies and ACC are major elements of the Adams-Oliver syndrome, which is usually inherited as an autosomal dominant disorder. We report on a sister and brother with ACC and brain, eyes, and transverse limb anomalies. The phalanges of the hands and feet were either short or absent. The girl also had absence of right patella, was severely mentally retarded and blind with retinal nonattachment. The boy had a falciform fold in the left eye. He died at age one week and autopsy showed partial agenesis of corpus callosum. The findings in the sibs may represent a severe variant of the Adams-Oliver syndrome, or a previously unrecognized syndrome involving vascular disruption.

Brain↗
PubMed1995

Gangliosides in children with autism.

Concentrations of the four major brain gangliosides, GM1, GD1a, GD1b and GT1b, biochemical markers of neuronal membranes, were determined in the cerebrospinal fluid (CSF) of 20 children with autism and in 25 controls. In addition, the gangliosides were determined in children with different forms of non-progressive neurological disorders lacking clinical features of autism. GM1, GD1a, GD1b and GT1b were significantly increased in patients with autism compared with age-matched controls and children with non-progressive neurological disorders. The gangliosides have previously been shown to have a function in synaptic transmission and increased synaptic activity leads to added release of gangliosides. Our finding of increased CSF levels of gangliosides in autism suggests increased synaptic activity in this disorder.

Adolescent↗
PubMed1994

[Conversion disorders in children and adolescents. A multidisciplinary approach].

Conversion disorders are characterized by change or loss of physical functions which indicates a neurological disorder (e.g. paralysis, sensory disturbances, or epilepsy like seizures). Clinical/neurological examination does not confirm any organic basis for the symptoms. Conversion disorders are more frequent in girls than in boys. They are rarely seen below the age of seven. A correspondence is often found between the personality of the child, (a conscientious attitude) and family relations. The families seem quite normal, but often have high expectations of their children, are sensitive to social stigmatization and have an underlying anxiety for health problems. A model is often found for the child's symptoms. Symptoms may be precipitated by an infection or a physical trauma. Sexual abuse is sometimes discovered. Multiprofessional assessment and treatment by a neuropediatrician, physiotherapist, child psychiatrist/psychologist and educational therapist may reduce "doctor shopping" and contribute to a favourable outcome.

Adolescent↗
PubMed1988

Infantile Refsum's disease: a generalized peroxisomal disorder. Case report with postmortem examination.

Infantile Refsum's disease (IRD) is a peroxisomal deficiency disease which is closely related to neonatal adrenoleukodystrophy (NALD) and the Zellweger syndrome (ZS). Recent observations suggest that NALD and ZS are separate genetic disorders but the delimitation towards IRD remains uncertain. We present here the first autopsy report of a patient who was clinically and biochemically diagnosed as having IRD, and we compare the findings with those from NALD and ZS. The main gross and microscopic findings comprised micronodular liver cirrhosis, small hypoplastic adrenals without degenerative changes, and large groups of lipid macrophages in liver, lymph nodes and certain areas of the cerebral white matter. The brain showed no malformations except for a severe hypoplasia of the cerebellar granule layer and ectopic location of the Purkinje cells in the molecular layer. A mild and diffuse reduction of axons and myelin was found in the corpus callosum and periventricular white matter, the corticospinal tracts, and the optic nerves. Large numbers of perivascular macrophages were present in the same areas but there was no active demyelination. The retina and cochlea showed severe degenerative changes. Peripheral nerves, skeletal system and kidneys were normal. Electron microscopy showed characteristic cytoplasmic inclusions with bilamellar profiles in macrophages in the liver, lymph nodes and brain but not in the adrenals. Similar inclusions were found in liver cells and astrocytes. The findings differ from ZS which shows cortical renal cysts, skeletal changes, liver changes, cerebral micropolygyria, neuronal heterotopias, and demyelination of the white matter. Cases with NALD show mild cerebral malformations, active demyelination, degenerative changes of the adrenals, liver changes, and bilamellar electromicroscopic inclusions in macrophages. Our cases thus resembled NALD but lacked active demyelination, cerebral cortical malformations and adrenal degenerative changes. Further autopsy studies will be necessary to determine whether these changes are consistent findings in IRD.

Adrenoleukodystrophy↗
PubMed1986

Visual evoked response in syphilitic optic atrophy. A case report.

A case of neurosyphilis is described. The presenting symptoms were reduced visual acuity and impaired colour vision. The examination revealed bilateral optic atrophy and acquired red-green colour defect. A syphilitic aetiology was based on positive serological tests in blood and CSF, pleocytosis and increased total protein in the CSF. The abrupt decline in visual acuity was arrested by treatment with penicillin and systemic steroids, but normalization of vision was not obtained. All VER-records, of P2 latencies and morphologies were surprisingly normal, but the amplitudes were reduced.

Color Vision Defects↗
PubMed1984

Juxtapapillary chorioretinitis in neurosyphilis. A case report.

A case of neurosyphilis is described. The presenting symptoms were reduced vision and pain around the left eye. The examination revealed a juxtapapillary chorioretinitis and neurosyphilis with elevated total protein (0.84 g/l) and pleocytosis (250 cells X 10(6)/l) in the cerebrospinal fluid (CFS). Four months after treatment with penicillin for 10 days and prednisolone for 5 weeks, the ophthalmological signs had disappeared. There was no pleocytosis (4 cells X 10(6)/l), and the total protein content in CSF was almost normal (0.52 g/l). Treatment with 6 mill (IU) penicillin G intravenously every 6 h resulted in a concentration in serum and spinal fluid higher than the generally accepted treponemacidal level.

Adult↗