Biomedical subjects

B Hagberg

Publications and source records attributed to B Hagberg.

At least 127 records · Page 7Linked to original sources

PubMed1988

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.

Adolescent↗

PubMed1987

Intravenous physostigmine treatment of Alzheimer's disease evaluated by psychometric testing, regional cerebral blood flow (rCBF) measurement, and EEG.

Ten patients with Alzheimer's disease were treated with intravenous infusion of physostigmine for 2 h. The acute effects on cognitive function, regional cerebral blood flow, and EEG were compared to placebo (isotonic glucose) using a double-blind cross-over design. Physostigmine causes a limited improvement of psychomotor performance and EEG and an increase of blood flow in the most severely affected cortical areas, predominantly in an early phase of Alzheimer's disease.

Aged↗

PubMed1987

Behaviour correlates to frontal lobe dysfunction.

A résumé of conventional neuropsychological tests for assessment of frontal lobe dysfunction is given, focusing on aspects of cognition like the ability to form sequences, abstractions and estimations. Beside these, assessment variables, qualities of behaviour and test-taking attitude are regarded to be vital for the diagnostic statement. The neuropsychological theory is compared with and related to dynamic psychology with special reference to ego functions and adaptive capacities. A possible subdivision of behaviour manifestations within the frontal lobe syndrome is hypothesized from recent neuropathological findings.

Behavior↗

PubMed1987

Rett syndrome: epidemiology and nosology--progress in knowledge 1986--a conference communication.

Recent progress from pooled clinical experience is reviewed. The approximate number of documented cases of Rett syndrome (RS) as of October 1986 was 1,100. Three sister pairs, 3 monozygotic twin pairs (both twin girls affected), 3 dizygotic twin pairs (one twin girl affected) are known. Genetics are discussed based on these and other known occurrences. Early seizure-onset variants have been reported in a dozen cases representing various countries. Approximately 20 incomplete RS related cases, also termed "formes frustes," are documented as of October 1986. An actual Swedish series of 66 classical RS, 4 "formes frustes," 2 early seizure-onset variants and 9 other clinically near related atypical cases is summarized. A suggested late stage IV spinal cord impairment is discussed, as well as the whole adult multifacetted complex neurological pattern. Gastrointestinal pathology is discussed with reference to possible generalized neuropeptide disturbances.

Adolescent↗

PubMed1987

Brain stem and spinal cord impairment in Rett syndrome: somatosensory and auditory evoked responses investigations.

Six females with Rett syndrome (RS)--all seriously motor disabled with clinical symptomatology indicating not only brain but also spinal cord impairment--were investigated using auditory and somatosensory evoked responses techniques. In all patients the responses representing the pathways through the upper spinal cord were delayed suggesting an impairment of the central conduction time. The findings mean an involvement of the sub-cortical structures, the brain stem and the cervical spinal cord in the disease process. From the natural clinical course and the present findings, it is concluded that RS is also characterized by spinal cord impairment appearing with increasing age and stage of diseases.

Adolescent↗

PubMed1987

Large alterations in ganglioside and neutral glycosphingolipid patterns in brains from cases with infantile neuronal ceroid lipofuscinosis/polyunsaturated fatty acid lipidosis.

Lipid composition was studied on cerebral tissue from nine children who had died of a progressive encephalopathy called the infantile form of neuronal ceroid lipofuscinosis (INCL) or polyunsaturated fatty acid lipidosis (PFAL). In the terminal stage of the disease, the concentrations of all lipid classes were found to be significantly reduced in the cerebral and cerebellar cortex and white matter. The concentration of gangliosides of the cerebral cortex was 15% and that of cerebrosides (galactosylceramide) in white matter 0.2-5% of the normal values for the children's ages. The reduction of gangliosides mainly affected those of the gangliotetraose series, particularly GD1a. The fatty acids of the linolenic acid series were strongly reduced in ethanolamine and serine phosphoglycerides. A very large increase up to 100-fold of oligoglycosphingolipids of the globo series and two fucose-containing lipids of the neolacto series was found in the forebrain of the three advanced cases examined. The brain tissue also contained very high concentrations of mono-, di-, and trisialogangliosides of the lacto and neolacto series, gangliosides with type 1 chain dominating. The structures of the gangliosides were tentatively identified by gas chromatography-mass spectrometry and monoclonal antibodies with carefully determined epitope specificity. The gangliosides and neutral glycosphingolipids had very similar fatty acid composition, consisting of about 40% stearic acid and 40% C24-acids.

Brain↗

PubMed1987

Epidemiology of infantile hydrocephalus in Sweden. II. Origin in infants born at term.

The aetiology of infantile hydrocephalus (IH) was studied in a population-based series of 141 children with IH, born at term in southwestern Sweden 1967-82. A prenatal aetiology was present in 81 children (57%), a pre- and perinatal in 6 (4%), a perinatal in 27 (19%), and a postnatal in 8 (6%); the origin in 19 children (13%) remained untraceable. A variety of aetiologies were revealed or indicated among prenatal conditions. The dominant intrauterine infection was toxoplasmosis. The predominant perinatal condition was posthaemorrhagic IH. The broad outline of outcome differed between pathogenetic groups. Children with a clear prenatal onset of IH were found to be at high risk for early death or multiple neurological impairments. Thirteen of 63 (21%) within this group had died before 2 years of age and 34 of the 50 (68%) survivors showed major neurological dysfunction. This contrasted to the incidences of 3% deaths and 30% sequelae in children with IH of other onset.

Adult↗

PubMed1987

Epidemiology of infantile hydrocephalus in Sweden. III. Origin in preterm infants.

The aetiology of infantile hydrocephalus (IH) was studied in a population-based series of 61 children with IH born 1967-82 at less than 37 weeks of gestation. A prenatal origin was present in 17 children (28%), a pre- and perinatal in 17 (28%), a perinatal in 26 (43%) and a postnatal in one (1%). The predominant single cause was postaemorrhagic IH, which was diagnosed in 19 (31%). In addition, an undiagnosed cerebral haemorrhage was considered to be the cause in another 25%. The outcome differed between pathogenetic groups. Children with a clear onset of IH (pre-, peri- or postnatal) were found to be at high risk for early death or multiple impairments. Sixteen of 39 (41%) within these groups had died before 2 years of age and 18 of the 23 (78%) survivors showed major neurological dysfunction. This contrasted to no mortality and 41% major dysfunction in children with a less clear onset of IH. A new subgroup consisting of infants born before 28 weeks of gestation emerged in the early 1980s. All infants with IH in this group developed a severe multihandicap condition.

Child, Preschool↗

PubMed1987

Pre- and perinatal environmental origin in mild mental retardation.

From population-based studies of mild mental retardation made in the beginning of the 1980s in Sweden and covering the birth years 1959-70, data on pre- and perinatal environmental origin have been analysed. Information gathered from these data has also been compiled together with more recent findings from epidemiological studies of other brain impairment groups, in particular cerebral palsy and infantile hydrocephalus.

Abnormalities, Drug-Induced↗

PubMed1987

Cognitive function, cognitive style and life satisfaction in a 68-year-old male population.

A representative sample of 68-year-old men living in the city of Malmö, Sweden, was examined by means of psychological tests and questionnaires regarding cognitive capacity, cognitive style as an expression of personality, and life satisfaction. Reference values for these parameters are presented, and a continuous cohort increase of verbal ability could be identified in this age group. That the prevalence of cognitive reduction was found to be surprisingly high is tentatively interpreted as reflecting an underdiagnosis of these symptoms as concomitant to other diseases in the general population. Earlier results supporting the concept of terminal decline could not be replicated. The reason for this might be that the present population was somewhat younger than those earlier investigated. Contrary to expectation, life satisfaction did not correlate to either cognitive reduction or cognitive style. It had, however, a positive correlation to measures of fluid intelligence.

Adaptation, Psychological↗

PubMed1986

Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence.

A four-stage construction is presented for illustrating the characteristic clinical pattern and profile over the years in the average, 'classical' rett syndrome (RS) patient. The staging system was applied and evaluated in the 29 Swedish RS cases who now have passed age 13 (median 18). We also discuss the diagnostic pitfalls we have met and the conditions that need to be considered in the differential diagnosis.

Adolescent↗

PubMed1986

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.

Carbohydrate Metabolism, Inborn Errors↗

PubMed1986

Epidemiology of infantile hydrocephalus in Sweden. I. Birth prevalence and general data.

The livebirth prevalence of infantile simple hydrocephalus (IH) was investigated in a Swedish population-based survey. The study comprised all liveborn infants with IH apparent before the age of one year and born in the study area between 1967-82. A total of 202 infants fulfilled these criteria; of these, 141 (70%) were born at term and 61 (30%) were preterm. The mean prevalence was 0.53 per 1,000, with a slightly increasing trend from 0.48 in 1967-70 to 0.63 in 1979-82. The increase was entirely referable to the preterm group, in which the prevalence rose from 0.13 per 1,000 in 1967-70 to 0.30 in 1979-82. There was no tendency to an increase in the term group. In 12 of 23 children born very preterm the origin of the IH was a diagnosed cerebral haemorrhage. This is compatible with the increased risk of the latter condition that has been found in very preterm newborns. The mortality among children with IH was highest before the age of one year (15%), after which it was 1.2% per year.

Female↗

PubMed1986

"Forme fruste" of Rett syndrome--a case report.

We report on a 17-year-old girl considered to represent a "forme fruste" of Rett syndrome. The history showed normal psychomotor development until age 20 months, when the girl successively lost acquired speech and developed autistic traits, moderate dementia, partial apraxia and microcephaly. However, she never stopped using her hands purposefully, nor did she develop the hand stereotypies characteristic of Rett syndrome. From age 4 years she successively became more communicable and regained some of the previous abilities including some speech. At 17 she showed most of the abnormalities characteristic of adolescent girls with Rett syndrome but was still only moderately retarded, with remarkably preserved motor functions. She had a peculiar apraxia. She seemed to lack "the key" to using her hands, while retaining a pincer grasp and some manipulative skills in her fingers. - It is suggested that the phenotype of Rett syndrome can vary considerably and that "formes frustes" may not be an exceptional rarity among mentally retarded girls.

Adolescent↗

PubMed1985

On diagnosis of dementia: psychometric investigation and clinical psychiatric evaluation in relation to verified diagnosis.

Patients with early as well as manifest dementia were studied in a longitudinal way with psychometric and psychiatric methods. Tests such as vocabulary, attention test, block design test, verbal and spatial memory tests, reaction time test and examination for aphasia were used as well as a qualitative analysis of behaviour and personality. The differential diagnosis of Alzheimer's disease, Pick's disease and other dementias with fronto-temporal degeneration and multi-infarct dementia was based on diagnostic rating scales. Differences in cognitive profiles, qualities of behaviour and scores on combinations of psychiatric rating scales were identified for pathoanatomically verified cases with Alzheimer's disease, fronto-temporal degeneration and multi-infarct dementia.

Aged↗

PubMed1985

Chromatographic profiles at E-280 nm for urinary precipitates in morbus Rett.

Previously we have observed different characteristic chromatographic ultraviolet absorbancy profiles at 280 nm for urinary protein precipitates from patients with behavioral disorders. The purpose with this study was to look for similar changes in urinary protein excretion from the grossly disabled patients with the Rett syndrome. Benzoic acid precipitates from the urine from 20 patients were chromatographed on a Sephadex G-25 gel column. There appeared 3 different profiles: 6 as observed in normal controls, 5 like that in compulsive behavior, and 9 were similar to those observed for autistiform-schizophreniform patients. The profiles did not mirror the behavioral observations for the patients, although the first group of 6 patients were the least disabled, whereas the last 9 patients were the most seriously ill. In conclusion the chromatographic profiles suggest a heterogeneous group of patients, but we need more observations for several patients over time, as there may be a change with the exacerbation of the disease.

Adolescent↗

PubMed1985

Linkage analysis of the Rett syndrome using human chromosomal specific probes.

Restriction fragment length polymorphic (RFLP) human DNA probes have been used for linkage analysis in families with the Rett syndrome. A cytogenetic marker could be detected in 6 out of 14 cases of the Rett syndrome in the region of Xp22, and a deletion was seen in one severe case. Informative results were obtained with two of the chromosomal specific DNA probes, 99.6 and D2, in two different families.

Child↗

PubMed1985

A "new" chromosome marker common to the Rett syndrome and infantile autism? The frequency of fragile sites at X p22 in 81 children with infantile autism, childhood psychosis and the Rett syndrome.

Chromosomes from 46 autistic, 20 psychotic and 15 Rett syndrome children were cultured in a folic-acid-depleted medium. Nine percent of the autistic, 20% of the psychotic and 40% of the Rett syndrome cases showed a "new" chromosomal anomaly, viz a fragile site at the (X) (p22) location. It is suggested that in some cases of autism/psychosis and the Rett syndrome, there might be a common biological marker for the common type of psychiatric disturbance. However, as the population frequency of the chromosome marker is not yet known, conclusions must be drawn with great caution.

Adolescent↗