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ABSTRACT: The prevalence of hereditary motor and sensory neuropathies (HMSN) and their distribution according to the severity of the disability were studied in a population-based series of Swedish children 2–15 years old. The prevalence per 100 000 of total peroneal muscle atrophies was 21.6 and of all clinical HMSN 19.0 Among HMSN, de- and remyelinating types (HMSN I) constituted 8 per 100000 and neuronal-axonal types (HMSN II) 11. Eighteen of the 21 HMSN I cases and 26 of the 29 HMSN II were considered to represent an autosomal dominant mode of inheritance. Ten per cent of all children were severely, 70% moderately and 20 % mildly disabled. All the severely affected children belonged to the HMSN I group and 9 of the 10 mildly affected to HMSN II.
Acta Paediatrica 01/2008; 72(3):379 - 383. · 2.07 Impact Factor
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ABSTRACT: Hagberg, B., Hagberg, G. and Olow, I. (Department of Paediatrics II, Children's Hospital and the Habilitation Unit of Bräcke-Östergård, Gothenburg, Sweden). The changing panorama of cerebral palsy in Sweden 1954–1970. II. Analysis of the various syndromes. Acta Paediatr Scand 64:193, 1975 From an unselected series of 560 Swedish cases of cerebral palsy, born 1954-70, various data of etiologic and pathogenetic interest were analysed in detail. Untraceable and prenatal factors were found to dominate within the group of spastic hemiplegia. Placental dysfunction in small-for-date babies and severe asphyxia were thought to be the two main pathogenetic factors among the patients with spastic tetraplegia. In spite of a significant decrease in the number of low birth weight children within the group of spastic diplegia, this syndrome was still very characteristic for the child born immature. Ataxic diplegic forms were found to have greater pathogenetic similarities to spastic diplegia than to simple ataxia. In two-thirds of the children the latter syndrome was characterized by normal pregnancy, delivery and birth weight and an untraceable (genetic?) factor. Oyskinetic syndromes were mostly encountered after perinatal asphyxia.
Acta Paediatrica 01/2008; 64(2):193 - 200. · 2.07 Impact Factor
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ABSTRACT: The Hvebirth 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 1000, 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 1000 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.
Acta Paediatrica 01/2008; 75(6):975 - 981. · 2.07 Impact Factor
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ABSTRACT: From a population-based series of 773 patients with cerebral palsy (CP) born in 1959–78, an analysis was made of the epidemiological trends over this period of 20 years, divided into five 4-year periods with emphasis on the last two. After a significantly decreasing incidence of CP in the first three periods (1959–70) from 1.9 to 1.4 per thousand, there was a significant increase in the last two periods, reaching 2.0 per thousand in the period 1975–78. Both the decreasing trend in the earlier periods and the increasing trend in the more recent ones were mainly referrable to spastic/ataxic diplegia in preterm CP, and to dyskinetic syndromes in CP infants born at term. With respect to pathogenesis, the corresponding changes in CP incidence were mainly accounted for by the group with potential perinatal risk factors. When analysed on the basis of surviving babies in birth-weight-specific groups, the incidence of CP in 1971–78 was found to have increased in all groups, but this was only statistically significant in the low birth weight group of 2 000–2 500 g. Changing trends in incidences ran parallel with a steadily progressive decline in perinatal mortality through all five periods. A considerable and cumulative net gain of surviving non-CP children was continuously achieved; this was also true for 1970–78, in spite of an increasing CP morbidity during these last two 4-year periods.
Acta Paediatrica 01/2008; 73(4):433 - 440. · 2.07 Impact Factor
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ABSTRACT: This is the ninth report from the western-Swedish study of the prevalence and origin of cerebral palsy.
A population-based study covering the 88 371 live births in the area in 1995-1998. Birth characteristics, neuroimaging findings and risk factors in children with cerebral palsy were recorded, prevalence was calculated, and aetiology was analysed.
The study comprised 170 children with cerebral palsy, i.e. a prevalence of 1.92 per 1000 live births. Excluding eight post-neonatally derived cases, the gestational age-specific prevalences were 77 per 1000 for children born before 28 wk of gestation, 40 for children born at 28-31 wk, 7 for children born at 32-36 wk and 1.1 for children born after 36 wk of gestation. Spastic hemiplegia, diplegia and tetraplegia accounted for 38%, 35% and 6%, respectively, dyskinetic cerebral palsy for 15%, and ataxia for 6%. For the first time, hemiplegia was now most common, due to the decline in preterm diplegia. There was a further increase in full-term dyskinetic cerebral palsy. The origin of cerebral palsy in children born at term was considered to be prenatal in 38%, peri/neonatal in 35% and unclassifiable in 27%, while in children born preterm it was 17%, 49% and 33%, respectively.
The decreasing trend from the period 1991-1994 continued, both in children born at term and especially in those born preterm. However, the increase in dyskinetic cerebral palsy in children born at term was a matter of concern. In this group, a perinatal hypoxic ischaemic encephalopathy had been present in 71%.
Acta Paediatrica 04/2005; 94(3):287-94. · 2.07 Impact Factor
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ABSTRACT: From a follow-up series of 24 classical Rett syndrome females (13-59 years of age), side asymmetries of neuroimpairments were systematically investigated. A characteristic right-sided dominance in terms of dysfunction and neurology was revealed. Differences in the perinatal/early postnatal development of finer brain net structures between brain halves are suggested as a possible explanation.
Neuropediatrics 01/2003; 33(6):324-6. · 0.94 Impact Factor
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ABSTRACT: Rett syndrome, today known as a worldwide important cause behind severe mental retardation in females, has been seen in Sweden since the 1960s (the senior author). This study gives population representative clinical and sociomedical follow-up data from West Sweden (1/4 of the population in Sweden). The series comprises 54 females diagnosed in 1971-1998, 5-60 years old, median age 20. Mortality in 1971-2000 was 18% (10/54), median age at death 20. Death usually had been sudden and unexpected. The sociomedical follow-up emphasized the adult group. The large majority had usually moved to small group homes, a good and well-accepted environment once the staff had learned the particularities of these so uniquely neurodevelopmentally disabled women.
Brain and Development 01/2002; 23 Suppl 1:S28-31. · 2.12 Impact Factor
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ABSTRACT: Previous studies have indicated that foetomaternal infection increases the risk of spastic cerebral palsy (CP) in term infants, whereas this association appears to be less evident in preterm infants. The aim of this study was to analyse infection-related risk factors for spastic CP in preterm infants. A population-based series of preterm infants with spastic CP, 91 very preterm (<32 wk) and 57 moderately preterm (32-36 wk), born in 1983-90, were included and matched with a control group (n = 296). In total, 154 maternal, antenatal and intrapartal variables were retrieved from obstetric records. In the entire group, histological chorioamnionitis/pyelonephritis, long interval between rupture of membranes and birth, admission-delivery interval <4 h and Apgar scores of <7 at 1 min just significantly increased the risk of CP, and Apgar scores of <7 at 5 and 10 min were strongly associated with an increased risk. Abruptio placentae, Apgar scores <7 at 1 min and pathological non-stress test (reason for delivery) were significant risk factors of CP only in the moderately preterm and hemiplegic groups, whereas fever before delivery was a significant risk factor in the very preterm and spastic diplegic groups. Antibiotics during pregnancy was associated with CP only in the spastic diplegic CP group. Conclusion: Antenatal infections marginally increased the risk of CP. Low Apgar score and abruptio placentae were associated with CP, especially in moderately preterm infants with hemiplegic CP.
Acta Paediatrica 01/2002; 91(8):946-51. · 2.07 Impact Factor
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ABSTRACT: Through 1998-1999 the Swedish research team have systematically mapped 45 of 54 females with Rett syndrome (RS) aged 5-57 years (Berg M. Uppföljning av flickor med Rett syndrom i Västsverige. Socialmedicinsk kartläggning, Stencilerad rapport, Sahlgrenska universitetssjukhuset, Göteborg, 1999; Läkartidningen (Swedish Medical Journal) 96 (1999) 5488). The emphasis is on the RS females' adjustment to grown-up living. At an adult age the large majority moved over to a Swedish type of small group home. We visited these girls in their group homes and got information about their adaptation to this special home situation. We noted their behaviour and contact with the staff and interviewed their parents. The results showed that the young women usually had adjusted well. The adjustment seemed to depend on the degree of planning before the girls moved from their parents to special group homes. These seem to provide a good environment for the RS females, in respect of both physical and social aspects. Although neuropaediatrics in Sweden today has advanced in RS knowledge, the result from this research shows that in Swedish society there is still a great ignorance of RS, even among medical professionals. In particular there is a gap of knowledge when the medical responsibility had to be transferred over to adult medicine. Many of the parents emphasized the great importance of how they were listened to by professionals in public medical and social services. It is essential that professionals always listen to information from parents and personal assistants.
Brain and Development 01/2002; 23 Suppl 1:S224-6. · 2.12 Impact Factor
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ABSTRACT: Mutations in the MECP2 gene are known to be associated with Rett Syndrome (RTT) in the large majority of sporadic cases. Four Swedish families with a total of eight RTT patients (two in each family), were screened and found negative for MECP2 mutations. The series included females with both classical and forme fruste phenotypes. Rett syndrome thus might still be complex and genetically multifactorial.
Neuropediatrics 09/2001; 32(4):217-8. · 0.94 Impact Factor
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ABSTRACT: Rett syndrome (RS) is a neurodevelopmental disorder almost exclusively affecting females. We have studied the mutation spectrum of the responsible gene MECP2, encoding methyl-CpG-binding protein 2 (MeCP2), in 16 sporadic classical RS females from Sweden. In 13 of 16 patients (81%) we detected nonsense or missense mutations in the coding parts of MECP2. This mutation rate is in agreement with other reports (65-80%). In all, 12 different mutations and one polymorphism were found; three of the mutations have not been reported previously. The missense mutations were restricted to highly conserved regions of the gene. None of the mutations was detected in parents; thus, they had probably arisen de novo. In contrast, two normal variants, one intron deletion and one silent mutation, were seen singly only in two patients' mothers; neither has been reported previously. One patient showed two different mutations closely located, i.e. 802C > T (R268W) together with 808C > T (R270X). Another patient had a mutation in the stop codon 1459T > C (X487R), leading to a gene product prolonged with 27 amino acids. In conclusion, our results indicate that the majority of Swedish RS patients (81%) have mutations in MECP2 that are sporadic cases with de novo mutations. Moreover, both missense and nonsense mutations occur, but in different parts of the gene, probably reflecting the function of the domains in MeCP2. This study has improved our ability to offer these families an early confirmation of Rett diagnoses.
European Child & Adolescent Psychiatry 07/2001; 10(2):117-21. · 2.82 Impact Factor
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ABSTRACT: This 8th Swedish population-based cerebral palsy (CP) report comprises 241 children born 1991-94. The live birth prevalence was 2.12 per 1000. Excluding 7 postnatally-derived cases, the gestational age-specific prevalences were 86 for extremely preterm children, 60 for very preterm and 6 for moderately preterm, and 1.3 for term children per 1000. Spastic hemiplegic, diplegic and tetraplegic subtypes accounted for 33%, 44% and 6%, dyskinetic CP for 12% and simple ataxia for 4%. Neuroimaging had been performed in 90%. Probable aetiology was identified in 73% of preterm and 86% of term children. Among preterm children it was considered prenatal in 12%, peri/neonatal in 61% and unclassifiable in 27%, while it was 51%, 36% and 14% among term children. CONCLUSION: The live birth prevalence for CP in the birth year period 1991-94 continued to decrease slightly. Gestational age-specific prevalences increased marginally in extremely and very preterm births, continued to decrease in moderately preterm births and decreased slightly in term births. Probable aetiology and timing of the brain insult could be revealed in 81%, birth asphyxia being the likely cause in 28% of term children.
Acta Paediatrica 04/2001; 90(3):271-7. · 2.07 Impact Factor
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ABSTRACT: In a representative series of 53 females with Rett syndrome (RS), aged 5-55 y, a history of epilepsy was present in 50 (94%), 45 of whom had 5-y active epilepsy. Compared with severe mental retardation in general, the median age of seizure onset was significantly later (4 vs 0.8 y) and partial complex seizures were more frequent (54% vs 23%). Neonatal seizures had occurred in only one and infantile spasms in none compared with 26% and 12%. After teenage, the severity of epilepsy tended to decrease, i.e. lower seizure frequency and relatively more partial seizures. The rate of being seizure-free for 1 y was 8% after 10 y and 40% after 27 y of epilepsy duration. Frequent seizures were associated with smaller head circumference. CONCLUSION: This epilepsy profile could fit in with present-day knowledge of RS as a form of dendrito-synaptogenic developmental failure with mainly late postnatal consequences, as well as being a relatively stationary condition in adulthood.
Acta Paediatrica 02/2001; 90(1):34-9. · 2.07 Impact Factor
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ABSTRACT: 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.
Lakartidningen 01/2000; 96(49):5488-90.
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Journal of Autism and Developmental Disorders 09/1999; 29(4):327-31. · 3.34 Impact Factor
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ABSTRACT: 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.
Developmental Medicine & Child Neurology 05/1999; 41(4):270-2. · 2.92 Impact Factor
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ABSTRACT: 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.
Journal of Medical Genetics 04/1999; 36(4):343-5. · 6.36 Impact Factor
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ABSTRACT: 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.
Lakartidningen 01/1999; 95(50):5742-8.
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ABSTRACT: 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.
Alcoholism Clinical and Experimental Research 05/1998; 22(2):321-4. · 3.34 Impact Factor
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ABSTRACT: 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.
European Child & Adolescent Psychiatry 04/1998; 7(1):49-52. · 2.82 Impact Factor
