Upsala journal of medical sciences. Supplement最新文献

The overall purpose of the study was to develop a screening instrument for the identification of developmental delay which could be administered entirely by parents. Reliability, concurrent and predictive validity was investigated in a Swedish population of 3,245 18-month-old children. The prevalence of mental retardation and learning disabilities implied by educational support provided in the regular school system was investigated in follow-up studies at 8 and 14 years. At 8 years, 20 children were administratively classified as mentally retarded. At 18 months they were among lowscorers or attrition cases. Among the remaining lowscorers 51.2% at 8 years and 26.6% at 14 years received special education in the normal school, i.e. were true positives. The rates of false negatives, i.e. children scoring normally at 18 months who received special education at 8 and 14 years, were 18.5% and 4.6% respectively. The prevalence of administratively classified mentally retarded was 0.62% at 8 years and 0.65% at 14 years. When the cases receiving special education in regular classes were added the prevalence figures were 2.1% at 8 years and 1.29% at 14 years. Apart from showing that parants can and will fill out a questionnaire on the developmental progress of their children that can be used for predictive purposes the study also points at the relatively inherent in the concept of mental retardation and true prevalence of especially mild mental retardation.

Few studies of the frequency of chromosomal aberrations in an unselected material of mildly mentally retarded children have been published. The present paper summarizes the chromosomal abnormalities in children with mild mental retardation (MMR) in Västerbotten in the northernmost part of Sweden. Chromosome analyses were carried out by routine methods. In addition, children whose MMR had no clear diagnosis or cause were investigated as regarding X-chromosomes with a fragile site and selected cases with banding techniques. Every mentally retarded child born between 1959 and 1970 in the county of Västerbotten was traced. Out of a total number of 40,871 individuals, 171, i.e. 4.2 per 1,000, were found to be mildly mentally retarded. Chromosomal aberrations were seen in 11.9% of the children with MMR, compared with 39.1% of the 161 children with severe mental retardation (SMR) in the same population. The proportion of cases with mental retardation of unknown etiology is high, especially amongst those with MMR. The use of high resolution banding and other modern cytogenetic methods should reduce this figure.

This paper presents a classroom-based language intervention program for preschool children with language delays or deficits. A major goal of the program is to ensure that children acquire missing skills through daily speech therapy and that they actively generalize these skills from therapy times to other classroom activities. This paper presents data collected with two children during daily speech therapy sessions and daily play activities. Instances in which the children generalized new language acquired in therapy to play activities will be discussed as well as instances in which the children failed to generalize new language. In addition, the influence of peer and teacher language usage on children's language production will be discussed. Finally, recommendations to enhance generalization of language skills within and across school settings will be presented.

The impact of metabolic diseases (inborn errors of metabolism) and endocrine disorders in pediatrics has markedly increased during the last few decades. Critical periods in the development of the central nervous system need special attention in children with these disorders. Early diagnosis and treatment are important in order to prevent mental retardation and serious handicaps in some of these patients. Certain patients with metabolic and endocrine disorders lack early clinical symptoms or have so non-specific signs that permanent neurological handicaps are present when the patients are finally diagnosed. One way to identify these patients is by means of mass screening. A blood sample is then collected from every newborn infant and analyzed for abnormal levels of metabolites or hormones. It is possible to detect at least thirty different disorders in this way. In most European countries screening programmes involve phenylketonuria (PKU) and congenital hypothyroidism. The prognosis for these patients has improved dramatically after the introduction of screening. The Swedish neonatal metabolic screening programme was started in 1965 by screening for PKU. Subsequently, screening for galactosemia and congenital hypothyroidism was added. The result of the screening programme 1965-1985 is as follows: (table; see text) The main benefit of early detection and treatment of children with PKU, congenital hypothyroidism and galactosemia is the prevention of mental retardation and other handicaps. Recently nationwide pilot screening for congenital adrenal hyperplasia (adrenogenital syndrome) was started.

Motor co-ordination testing using Gubbay's tests was carried out on 885 mainstream schoolchildren, broadly representative of national social class distribution, and on 482 children attending Greater Manchester schools for children with moderate learning difficulties. In spite of limited reliability of the tests considerable differences were demonstrated, suggesting that mildly mentally retarded children are also retarded in motor development. This has clear implications for educational planning whether such children are to be educated in special or mainstream schools in future.

The discovery of the Fragile X (fra(X] syndrome represents a major advance in our understanding of mild mental retardation. This X-linked syndrome is the most common hereditary form of mental retardation. Recent estimates find that approximately 1/981 males and 1/677 females carry the fra(X) chromosome. The majority of affected males are moderate to severely retarded, but about 20% are mildly retarded and about 5% are borderline. Approximately 20% of males who inherit the fra(X) chromosome are termed non-penetrant; they do not express it cytogenetically and are of normal intellect. About 1/3 of carrier females show mental impairment and about 10% are mildly retarded. We have found evidence for genetic heterogeneity based on linkage analysis to flanking DNA probes. Some large families show tight linkage between fra(X) and the flanking probe F9, while others show loose linkage. Preliminary findings indicate the linkage heterogeneity may also be related to cognition: affected males in tightly linked families tended to be mildly retarded.

The first discovered exogenous teratogen causing mental retardation was rubella embryopathy described in 1940. Later, cytomegalic virus infection and toxoplasmosis during pregnancy and ionogenic radiation has been shown to cause embryofetopathies with concomitant mental retardation. Methyl mercury in high doses cause severe central nervous system pathology in both mothers and their fetuses. The fetal alcohol syndrome is now generally accepted as causing mostly mild mental retardation. Of therapeutic drugs, antiepileptics have been shown to carry a risk for the fetal antiepileptic syndrome complex. We have recently been able to describe fetal pathology following high intake of benzodiazepines during pregnancy.

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.