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Biomedical subjects

B Hagberg

Publications and source records attributed to B Hagberg.

At least 73 records · Page 4Linked to original sources
PubMed1995

Rett syndrome: clinical peculiarities and biological mysteries.

Rett syndrome, a peculiar neurodevelopmental deficiency affecting females, which starts in early childhood, is reviewed based on a Swedish series of 170 females, 2-52 years of age (to December 1994). To date, the well recognized classical phenotype was found in 75% of cases. Atypical variant forms, mainly more mildly affected mentally retarded girls and adolescent women, were still in a minority, but constitute, with increasing experience, an expanding cohort. The biology and genetics of the condition seem puzzling. Traditional neurodegenerative pathology has been excluded. An age-limited neurodevelopmental, as yet unknown, brain growth deficiency, is at present indicated. The syndrome is most probably genetically determined, but the mode of transmission is not convincingly compatible with any known pattern.

Adolescent↗
PubMed1994

Rett syndrome: 3-D confocal microscopy of cortical pyramidal dendrites and afferents.

Autopsy material from three patients with Rett syndrome and six control cases (frontal, temporal and motor cortical areas) were studied. Pyramidal and non-pyramidal neurones, 100-200 in each specimen, were visualized by Lucifer Yellow microinjection. 3-D reconstructions and rotations were computed using the VoxelView/GT program. Various types of abnormalities in 3-D dendritic architecture of pyramidal neurones in different cortices were observed. Some pyramidal cells in layers II-III had a subnormal number of dendrites. The normally occurring specializations in pyramidal architecture in different cortical areas were absent. Decreased numbers and regional loss ('naked' areas) of dendritic spines were found. Widely distributed cortical afferents were shown by the carbocyanine dye (DiI) tracing method. PAD showed no microdysgenesis, in contrast to the observations in epilepsy.

Adolescent↗
PubMed1994

Scoliosis in Rett syndrome. Clinical and biological aspects.

STUDY DESIGN: The natural history of progression of scoliosis was studied. The authors included a wide range of ages and correlated progression and progression rate to both age of the patient and the neurobiologic staging of the disease. OBJECTIVES: The authors studied information compiled by Hagberg and coworkers regarding Rett syndrome. The total number of patients was 78, with age ranging from 1 to 34 years. Standing or sitting anteroposterior roentgenograms were collected and measured. METHOD: The material was studied initially separately regarding orthopedic and radiologic analysis on one hand and neurobiologic staging on the other. Radiographic films were measured both retrospectively and prospectively, and scoliosis angle and progression and progression rate was calculated. Staging of patients with Rett syndrome was done according to Hagberg. RESULTS: When correlating curve magnitude and progression, the authors found that patients progressing > 15 degrees/year were classified as IV-A or IV-B stages. In the 0-5 year group, of the patients already having a curve of 15 degrees or more, all but one rapidly progressed to stage IV. The ten worst cases were characterized by early hypotonia, weakness, and gross motor disturbance. CONCLUSIONS: The scoliosis in Rett syndrome is of a neurogenic type, and it develops earlier than idiopathic scoliosis. The development of scoliosis is dependent more on stage of disease than on age. Curve progression is usually more rapid than in idiopathic scoliosis and in most other types of neurogenic scoliosis in childhood and occurs in a broader age span. Early hypotonia, weakness, and muscular insufficiency, and an early clinical referral to disease stages IV-A or IV-B are ominous factors. Clinical follow-up should begin early and be repeated regularly and frequently.

Adolescent↗
PubMed1994

Rett syndrome: the bcl-2 gene--a mediator of neurotrophic mechanisms?

Rett syndrome affects young girls. The molecular basis is mysterious. One tenable hypothesis can be that the programmed early infantile death of neuronal cells is reprogrammed. The bcl-2 gene on chromosome 22 has been shown to play a role in the apoptosis process. No sequence abnormalities were detected in the bcl-2 gene of 6 patients with Rett syndrome which could explain the pathophysiology of Rett syndrome.

Adolescent↗
PubMed1994

Bilateral spastic cerebral palsy--a comparative study between southwest Germany and western Sweden. II: Epidemiology.

Epidemiological data of a collaborative study on children with bilateral spastic cerebral palsy (BSCP) between south-west Germany and western Sweden are reported. The study period covered the birth years 1975 to 1986. Overall, the rate of BSCP increased during the birth year periods 1975-77 and 1978-80, but decreased thereafter. The rise was due to an increase of BSCP in low-birthweight (LBW) children, especially very LBW (VLBW) children. Mortality rates in LBW, and particularly VLBW, children decreased significantly during the whole study period in both countries. The BSCP rate, after the initial increase, showed a decrease during the second half of the study period in LBW children. Results are interpreted in favour of a predominantly prenatal aetiology in normal-birthweight and of a predominantly peri- and neonatal aetiology in LBW children.

Cerebral Palsy↗
PubMed1994

Infantile hydrocephalus epidemiology: an indicator of enhanced survival.

The epidemiology of infantile hydrocephalus in the birth years 1973-90 was investigated in west Sweden. The study revealed a significant increase in prevalence from 1973-8 and 1979-82 considered due to the enhanced survival of very and extremely preterm infants. The increase did not continue from 1983-90. This could indicate an improved outcome in preterm survivors as the neonatal survival rate continued to increase. The striking predominance of a perinatal/neonatal aetiology in very preterm hydrocephalic infants could be confirmed: 89% born from 1983-90 had suffered a confirmed postpartum intraventricular haemorrhage. In infants born at term, prenatal origins, mainly maldevelopments, dominated. The outcome in very preterm surviving infants with infantile hydrocephalus was poor: 73% had cerebral palsy, 52% epilepsy, 22% severe visual disability, and 55% were mentally retarded. Despite the increased survival resulting in a majority of healthy infants, there is an accumulating cohort of hydrocephalic children.

Blindness↗
PubMed1994

Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease.

A new group of recessively inherited metabolic disorders affecting glycoprotein metabolism has been identified--the carbohydrate-deficient-glycoprotein (CDG) syndromes. Here the course and clinical expression of CDG syndrome type I in 13 patients who have passed the age of 15 years are described. All presented with early onset psychomotor retardation, in most cases combined with slight facial dysmorphic features, some degree of hepatic dysfunction, and in one case, pericardial effusion. About half of the patients had subcutaneous lipodystrophy and comatose or stroke-like episodes during childhood. After the age of 15 the disease was mainly characterised by neurological symptoms consisting of non-progressive ataxia associated with cerebellar hypoplasia, stable mental retardation, variable peripheral neuropathy, and strabismus. One third of the patients had generalised seizures, usually sporadic, and all had retinal pigmentary degeneration. In all cases there was more or less pronounced thoracic deformity and no female had passed puberty. Also, the oldest female showed premature aging. Severe internal organ symptoms, which are common in pediatric patients, were absent. All patients had highly raised serum concentrations of the biochemical marker carbohydrate-deficient transferrin, which can be used to verify the diagnosis. It is concluded that after childhood, CDG syndrome type I is a largely non-progressive disease compatible with a socially functioning but dependent lifestyle.

Adolescent↗
PubMed1993

Relationships between demented elderly people and their families: a follow-up study of caregivers who had previously reported abuse when caring for their spouses and parents.

The aim of the study was to elucidate how relationships develop over time in abusive families. Family members of demented elderly people who previously reported abuse in the care of the elderly relatives are interviewed in a follow-up study. In this current study the families did not mention any abusive behaviour. They narrated their feelings toward their care recipient in the following main categories: mothering, grieving, feeling guilty, distancing and objectifying. When the family members expressed mothering thoughts, there were no expressions of guilt, objectifying or distancing, and the prior relationship was narrated as good. The families who talked about the demented person at a distance or by objectifying did not express feelings of mothering or grief for the relative.

Aged↗
PubMed1993

Benzodiazepine amplification of valproate teratogenic effects in children of mothers with absence epilepsy.

Valproate (VPA) is one of the most frequently used antiepileptic drugs (AEDs). Concern has recently been raised regarding VPA medication during pregnancy and teratogenic effects in the offspring. Both neural tube defects (5, 18, 34) and a constellation of signs termed the fetal valproate syndrome (1, 12) have been reported. Benzodiazepines (BZDs) are also widely used and sometimes as effective adjunctives in AED therapy. Both VPA and BZD have close connections to GABA transmission. Recently, clinical and epidemiological human studies (26, 27, 37, 39), supported by animal studies (17, 24, 40), have indicated that BZDs may act as human teratogens. We report on 7 children with congenital malformations, dysmorphism and abnormal neurological signs from birth. The mothers had well controlled primary generalized absence epilepsy without major seizures during pregnancy. Five children had been exposed to VPA monotherapy and two children to VPA and BZD combined during the first trimester. Those two infants had myelomeningoceles and the most pronounced dysmorphism in the group. We propose that these observations indicate a possible amplifying action of BZDs on VPA teratogenicity. Unrecognized BZD use during pregnancies exposed to VPA may be of importance when estimating the teratogenic risks of VPA therapy.

Abnormalities, Drug-Induced↗
PubMed1993

Bilateral spastic cerebral palsy--a comparative study between south-west Germany and western Sweden. I: Clinical patterns and disabilities.

The results of a collaborative study of bilateral spastic cerebral palsy (BSCP) between south-west Germany and western Sweden are reported, comprising 249 children in south-west Germany and 264 children in western Sweden. A severe gross motor disability was present in 65 per cent of the German and 62 per cent of the Swedish children; learning difficulties or mental retardation in 73 and 76 per cent; active epilepsy in 28 and 26 per cent; and severe visual disability in 20 and 19 per cent, respectively. Severe disabilities were especially pronounced in children with normal birthweights, in whom the most severe subtypes of BSCP were also found. Leg-dominated BSCP was the predominant subtype among low-birthweight children, but also occurred in more than half of the normal-birthweight children. The authors conclude that the two series were comparable, and that reliable results between countries can be obtained if clear-cut classifications and definitions are used.

Adolescent↗
PubMed1993

Infantile hydrocephalus in preterm, low-birth-weight infants--a nationwide Swedish cohort study 1979-1988.

All Swedish infants with shunt-treated infantile hydrocephalus, born during the period 1979-88 at < or = 34 weeks gestational age and of low birth weight, were studied. Ninety-six infants were born before 32 weeks and 50 at 32-34 weeks. The mean gestational age in the very preterm group gradually decreased from 29.5 to 27.3 weeks. The mean live birth prevalence was 15.9 per 1000 very preterm infants, and 5.1 per 1000 moderately preterm infants. No significant secular prevalence trends were found. The perinatal mortality decreased successively. The slowly decreasing trend in moderately preterm infants may imply better outcome in survivors. The slightly increasing trend in very preterm infants could be explained by more survivors in the low gestational age group. The aetiology was considered perinatal in 94% of the very preterm group and in 56% of the moderately preterm group; prenatal in 1% and 32% of infants, respectively. Additional neuro-impairments were present in 82% of infants, cerebral palsy being the commonest (74%).

Cerebrospinal Fluid Shunts↗
PubMed1993

The changing panorama of cerebral palsy in Sweden. VI. Prevalence and origin during the birth year period 1983-1986.

The prevalence and origin of cerebral palsy in children born between 1983 and 1986 are reported. The crude live-birth prevalence was 2.49 per 1000; 1.56 for term births, 0.93 for preterm births. The increasing trend from 1970 persisted and was statistically significant for both groups. The most pronounced increase during 1983-1986 occurred in term cerebral palsy. The increasing use of neuroimaging techniques made the timing of damaging events more reliable. In term cerebral palsy, the origin was convincingly prenatal in 28% of cases and perinatal in 25%. The particular critical period for the brain damage underlying cerebral palsy was considered to be weeks 26-34 of gestation, i.e. when periventricular structures are extraordinarily vulnerable. In term infants, this occurs during late intrauterine life, while in the majority of preterms it occurs in early neonatal life. In total, two-thirds of cerebral palsy lesions might have been acquired during these decisive months of brain development.

Birth Weight↗
PubMed1992

Rett syndrome: a search for gene sources.

A series of 77 Swedish females with classical Rett syndrome were genealogically traced as far back as possible, in most cases to 1720-1750, or 7-10 generations. Details were collected concerning approximately 8,000 ancestors. Common ancestry was seen in 2 pairs of females with Rett syndrome. Thirty-nine of the 77 Rett females were traced to 9 small and separate rural areas, and 17 pairs even came from the same farm or homestead. The common origin was found equally often among descendants of the father as of the mother. In 9 cases, the father came from one and the mother from another of the 9 specific "Rett areas." These observations, combined with the finding of a raised rate of consanguineous marriages in the paternal as well as in the maternal ancestry, point to a genetic transmission. Analyses of parental ages at birth and of birth order gave normal results.

Adult↗