Lessons and indications from three decades of West-Swedish Cerebral Palsy data.
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Adult↗
Biomedical subjects
B Hagberg
Publications and source records attributed to B Hagberg.
[Rett syndrome--an odd handicap affecting girls. A current 25-year follow-up in Western Sweden].
Rett syndrome, a complicated neurodevelopmental disorder exclusively affecting girls in early childhood, is now known to be one of the major worldwide causes of severe mental retardation in females. Although internationally unknown until the mid-1980s, under another designation it had been observed in Sweden since the early 1960s. The article consists in a review of current clinical, neurobiological and genetic knowledge of the syndrome, and a systematic penetration of data collected from the follow-up of a west Swedish series of 54 female patients, 5-57 years of age. Mortality in the series was 17 percent, with a median age at death of 24 years. In most cases death was sudden and unexpected.
Adolescent↗
Autistic disorders in children with CHARGE association.
Three children with CHARGE association (coloboma, heart defect, atresia of the choanae, retarded growth and development, genital hypoplasia, ear anomalies and hearing defects) as well as concomitant autistic disorder are reported. Two of the children also had mental retardation. Several types of cerebral maldevelopment/dysfunction have been reported in CHARGE association. With regard to aetiology, involvement of the neural crest has been suggested. Autism in CHARGE association may represent a neuro-endocrine dysfunction. Children with a CHARGE association have many medical problems and therefore autistic behaviour can easily be overlooked. A multidisciplinary approach with respect to assessment, treatment, and habilitation is of vital importance.
Abnormalities, Multiple↗
Brief report: autism and Asperger syndrome in seven-year-old children: a total population study.
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Autistic Disorder↗
Incidence of cardiac events in hypertensive men related to adaptive behavior in stressful encounters.
The Serial Color Word Test was administered at baseline to 253 hypertensive men participating in the prospective cohort study of cardiovascular diseases "Men born in 1914" in Malmö, Sweden. This test of psychological adaptation to a stressful encounter was used to investigate whether susceptibility to stress moderates the risk of a cardiac event in association with hypertension. Adaptive behavior, as measured by test performance, can be categorized in two dimensions. The regression dimension refers to linear change of time spent in the test session whereas the variability dimension refers to nonlinear change. Both dimensions consist of four different patterns. At follow-up (mean time = 8.2 +/- 3.5 years), the risk of a cardiac event varied between men with different adaptive patterns. One pattern, the Cumulative-Dissociative pattern of the variability dimension, characterized by a discontinuous and fluctuating time-consumption, was associated to an almost three-fold risk of a cardiac event during follow-up (relative risk [RR], 2.99; 95% confidence interval [CI], 1.33 - 6.70, p = .010) after adjustment for medical-, socioeconomic-, and lifestyle-related factors. No association existed between adaptive patterns and overall mortality.
Journal Article↗
Concentrations of plasma methylmalonic acid in 80-year-olds show only weak relation to psychological performance.
Most studies of the relation between psychological performance in the elderly and deficiencies of cobalamin and folate have used methods that determine the blood concentrations of these vitamins, which might not reflect the vitamin status in the tissues. Recently, two new markers, plasma homocysteine and methylmalonic acid, have attracted growing interest since they are considered to reflect the status of cobalamins and folates in the tissues. In a previous study, we noted a strong association between five parameters of well-being and lower concentrations of plasma homocysteine. In the present study, we have extended these observations by determination of plasma methylmalonic acid in the same healthy elderly population. In the present study, 18 out of 100 subjects had increased plasma methylmalonic acid and in 7 of these subjects, the concentrations of serum cobalamin, blood folate, plasma homocysteine and serum creatinine were within normal limits. The relation between plasma methylmalonic acid concentrations and concentrations of serum cobalamin and blood folates and five parameters of well-being were investigated. Concentrations of plasma methylmalonic acid were only weakly associated with the concentrations of serum cobalamin and lower scores on the logical reasoning test. The present study clearly shows that the levels of plasma methylmalonic acid show a much lesser association with the parameters of well-being than did plasma homocysteine.
Aged↗
Social relationships and health as predictors of life satisfaction in advanced old age: results from a Swedish longitudinal study.
This longitudinal study examines the relationship between family and friend social support, health, and life satisfaction for a single cohort of eighty-year-old persons living in Lund, Sweden. Results indicate that participants who remained in the study are healthier and score higher on life satisfaction when compared with those who either drop-out or die prior to age eighty-three. Even though well-integrated with family and friends, the number of friends decreases significantly from eighty to eighty-three years; those who reported no close friends nearly doubled from eighty to eighty-three years. However, for those with close friends, contact with friends increases with age. In contrast to previous research, a correlational analysis indicates that neither child nor friend support is related to life satisfaction at either eighty or eighty-three years. However, health measures and satisfaction with sibling contact are related to total life satisfaction at age eighty-three only. These findings indicate the multidimensionality of both social support and life satisfaction for the old-old.
Adult↗
Congenital variant Rett syndrome in a girl with terminal deletion of chromosome 3p.
A girl fulfilling four/five of six inclusion criteria and eight/nine of 11 supportive criteria for atypical Rett syndrome had a cytogenetic deletion of chromosome 3p, del(3)(pter-->3p25.1 approximately 25.2). The deletion was situated on the maternally derived chromosome and by molecular analysis the deletion breakpoint was shown to be between DNA markers D3S3589 and D3S1263.
Child↗
[CDGS-1--a recently discovered hereditary metabolic disease. Multiple organ manifestations, incidence 1/80,000, difficult to treat].
Carbohydrate-deficient glycoprotein syndrome type 1 (CDGS-1) is an autosomal recessive hereditary metabolic disorder, the gene locus of which is chromosome 16p13. The disorder is characterised by genetic heterogeneity, and by decrease in the gene product, phosphomannomutase 2, though the heterogeneity is far less manifest in affected Swedish families. Its incidence is 1/80,000 live births, and the under-5 mortality rate over 30 per cent. The causes of death are liver failure, cardiac tamponade, haemorrhaging, and severe infection. The characteristic biochemical aberration is the occurrence of deficient carbohydrate chains in many but not all circulating glycoproteins, and the serum and blood concentrations of some glycoproteins may be above or below normal. These changes may improve over time, but never normalise. The clinical picture is generally more problematic during the first years of life when psychomotor retardation is complicated by failure to thrive, liver dysfunction, pericardial effusions, and stroke-like episodes. In addition, strabismus, lipocutaneous anomalies, and gluteal fat pads are always present, and muscular hypotonia and restricted joint mobility are common. Failure to thrive is common, with vomiting and diarrhoea and subsequent slow growth. Inflammation is a constant finding in the liver, and very common in the small bowel. Pancreatic function is also affected. Pericardial effusion has been reported in 50 per cent of the youngest children, requiring pericardectomy in 30 per cent of cases. Haemorrhaging and thromboembolic complications may occur, and the serum concentrations of several factors and inhibitors are low, particularly those of factors V and XI, protein C and antithrombin. Stroke-like episodes occur in about 30 per cent of cases, often following an infection, with coma lasting for hours to several days. Such sequelae as hemiplegia, blindness, and other focal neurological pathology have been observed transiently. Diagnosis is based on the serum carbohydrate-deficient transferrin level, verified by isoelectric focusing. Molecular genetic procedures enable point mutations to be identified and prenatal diagnosis to be performed in many families.
Adolescent↗
Lamotrigine in Rett syndrome: treatment experience from a pilot study.
This open pilot study was performed to evaluate the effect of Lamotrigine (LTG) in girls with Rett syndrome (RS) regarding seizure frequency, effect on gross motor dyspraxia and safety. Twelve girls with either the classical form of RS or the milder form fruste variants were included. The effect on epilepsy was evaluated as seizure frequency, motor performance (video comparison) and safety at clinical check up. The dosage of LTG was individualized and related to concomitant anti-epileptic drugs. Two of three girls with epilepsy responded relatively well to treatment, and for one of them even bad tantrums disappeared. LTG was useful in another four girls who became happier, more alert, more able to concentrate, and improved in contacting. Only mild adverse reactions as rash and tremor were seen. It is concluded that LTG could be worth trying as an adjunct in girls with RS, being aware of possible adverse reactions and no effect at all.
Adolescent↗
'Anonymous'--an organization for families of children with undiagnosed brain diseases.
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Brain Diseases↗
Insomnia in an 80-year-old population: relationship to medical, psychological and social factors.
In this study, insomnia in 80-year-olds was related to medical, psychological and social factors. The data were based on examinations every year in people aged between 80 and 89 years. Of 333 people living in the city of Lund and born in 1908, 67% participated. Increased severity of insomnia was significantly associated with use of diuretics, other cardiovascular drugs, hypnotics and laxatives, and with nervousness, difficulty relaxing, anorexia, nausea, constipation, backache, feeling cold, sweating, loss of weight, dizziness, depression, general fatigue, exhaustion, angina pectoris, cardiac insufficiency, worsened objective and subjective health, presence of negative T-waves on ECG, anxiety, total life satisfaction, neuroticism, disbelief in a just world, feeling lonely and lower survival rates. Thus insomnia has widespread associations with different aspects of life in 80-year-olds.
Aged↗
Neuropsychological disorders in children exposed to alcohol during pregnancy: a follow-up study of 24 children to alcoholic mothers in Göteborg, Sweden.
This paper reports on a follow-up study of 24 children to alcoholic mothers at 12 to 14 years of age. The mothers were offered support to help them stop drinking during pregnancy and was grouped to time point of instituted sobriety. Six of the 24 children attended a school for the mentally retarded, and 11 children had some kind of special education. The children have difficulties in mathematics, logical conclusions, visual perception, spatial relations, and short-range memory/attention. Sixteen children were in fostercare. A clear correlation between the occurrence and severity of neuropsychological problems and the degree of alcohol exposure in utero was found.
Adolescent↗
Morphological study of neocortical areas in Rett syndrome.
Various neocortical areas from four females aged 16-24 years with Rett syndrome (RS) were investigated and compared with brains of therapy-resistant partial epilepsy (TRPE) patients (18-25 years), infantile autism (IA), and control brains (24 and 58 years). The cytoarchitecture of area 10 (frontal), area 21 (temporal), area 4 (primary motor cortex), and area 17 (primary visual cortex) was studied by the combined Klüver-Barrera (luxol fast blue and cresyl violet) standard procedure. Autofluorescence of lipofuscin, immunofluorescence of synaptic vesicle proteins [synaptophysin (p38)] and lectin-stained (Wisteria floribunda agglutinin) perineuronal nets (PNs) were studied in the cortices using dual-channel confocal laser scanning microscopy. The brains of RS females show various types of morphological/cytoarchitectonical abnormalities of single pyramidal neurons in layers II-III, and V-VII of different cortical areas. The abnormalities include mild losses of pyramidal neurons, more pronounced in layers II and III than in layers V and VII, and more evident in frontal and temporal areas than in the visual cortex. Microdysgenesis, including abnormalities due to neuronal migration disorders, was not found in RS, in contrast to the observations in TRPE patients, strongly indicating that RS is not a neuronal migration disorder. Lipofuscin distribution was normal but amounts were lower in RS cases than in control and TRPE brains. PNs were less expressed in cortices of the IA case but were clearly overexpressed in the motor cortex of RS. Quantitative analysis of p38 showed a decrease in the area occupied by p38 immunoreactivity by 20-40% in RS compared with controls. It is concluded that RS could best be explained by a postnatal synaptogenic developmental deficiency; the basic defect, however, is still completely unknown.
Adolescent↗
Predictors of loneliness in centenarians: a parallel study.
The purpose of this study was to evaluate predictors of loneliness in centenarians for two countries: The USA and Sweden. It was hypothesized that cognition, personality, social support and physical health would predict loneliness. Results indicated that personality, social support and physical health were good predictors of loneliness in the US sample, while cognition and social support were the strongest predictors in the Swedish sample. Social support predicted loneliness negatively in the US sample, but was positively associated with loneliness in Sweden.
Journal Article↗
Blood pressure in relation to medical, psychological and social variables in a population of 80-year-olds. Survival during 6 years.
OBJECTIVES: To relate elevated blood pressure in 80-year-olds to symptoms, life satisfaction and survival. DESIGN: Examinations of medical, psychological and social factors every year between 80 and 86 years of age. SETTING: Primary health care in the city of Lund in southern Sweden. SUBJECTS: Three-hundred and thirty-three persons living in the city of Lund and born in 1908. Participation rate was 67%. INTERVENTION: Abnormal findings were further examined and treated. MAIN OUTCOME MEASURES: Symptoms, blood pressure, laboratory values, psychological factors, cognition, living conditions, and survival. RESULTS: Hypertension according to the definition used was found in 70%. Women were over-represented (P < 0.05). Amongst persons with alleged hypertension, diuretics (P < 0.001) and 'other cardiovascular drugs' (P < 0.001) were more often used. Analgesics were more often used amongst assessed hypertensives (P < 0.05). Those with assessed hypertension scored better in testing of cognition compared to nonhypertensives (P < 0.05), and less often lived in institutions (P < 0.001). Assessed hypertensives had a better survival than alleged hypertensives during the following 7 years (P < 0.01). CONCLUSIONS: Eighty-year-olds with assessed hypertension in the consulting room showed fewer symptoms and had a better cognition and survival than alleged hypertensives (those with a history of hypertension).
Aged↗
Neuronal ceroid lipofuscinoses in Scandinavia. Epidemiology and clinical pictures.
The epidemiology of neuronal ceroid lipofuscinoses (NCL) in Scandinavia was studied. For juvenile NCL 40 Swedish living patients were identified. The corresponding number for Finland was 61, for Norway 28, for Denmark 16 and for Iceland three. The prevalence of juvenile NCL was thus 4.6, 12.2, 6.5, 3.1 and 11 per million inhabitants in Sweden, Finland, Norway, Denmark, and Iceland, respectively. For calculating incidence the years 1976-85 were used. The incidence was 2.2 per 100,000 live births in Sweden, 4.8 in Finland, 3.7 in Norway, 2.0 in Denmark, and 7.0 in Iceland. Late infantile NCL was found in five Swedish children, including one variant form, CLN5. This gives a prevalence of about 0.6 per million. In Finland 13 cases gave a prevalence of 2.6 per million with the variant form in 80% of cases. In Norway, three children corresponded to a prevalence of 0.7 per million and one case in Iceland to 3.8 per million. No Danish cases were reported. As for infantile NCL, sixteen Swedish cases have been diagnosed during the 27-year period 1968-95, six are presently alive. This gives an estimated prevalence of 0.7 per million and an incidence of 0.6 per 100,000. The prevalence and incidence of infantile NCL in Finland were 5.4 per million and 5 per 100,000, respectively. The prevalence in Norway was 0.2 per million inhabitants. The variability of onset, clinical course and symptoms in the Swedish cases of juvenile and infantile NCL were analysed.
Adolescent↗
Attention deficits and autistic spectrum problems in children exposed to alcohol during gestation: a follow-up study.
Children born to mothers who had abused alcohol throughout pregnancy had severe behavioural and intellectual problems which remained at age 11 to 14 years. Of 24 children examined, 10 had attention deficit hyperactivity disorder (ADHD) with or without developmental coordination disorder, two had Asperger syndrome, and one had an autistic-like condition not meeting the criteria for Asperger syndrome. Six of these 24 attended special schools for the mentally retarded and a further 11 were given special education, leaving only seven attending regular schools without any type of support. The children had difficulties in mathematics, logical conclusions, visual perception, spatial relations, short-term memory, and attention. Sixteen children lived in foster homes. There was a clear correlation between the occurrence and severity of the neuropsychiatric disorder and the degree of alcohol exposure in utero.
Adolescent↗