Mortality, major neurological handicaps--including mental retardation, cerebral palsy and epilepsy--educational subnormality and height at 14 years of age were studied by birth weight percentiles in a birth cohort of 12 000 children from northern Finland. Infant mortality was significantly higher below the mean -2 SD, 10th and 25th percentiles, than in the median class, from 25th to 75th percentiles, but mortality from one to 14 years only in the lowest weight class. Educational subnormality, including mental retardation +/- some other handicap, was highly significantly more frequent in all the percentile classes lower than the median class but showed no significant tendency to be less frequent in the percentiles over the median. It was also highly significantly more frequent among the preterm than the term infant. The number of children with a major neurological handicap but normal school performance did not vary significantly by birth weight percentiles or by gestational age. Height at 14 years increased significantly by birth weight percentiles. The height of the boys with birth weight mean - and +2 SD was nevertheless within the 25th-75th percentiles for height at 14 years in general, while the height of the girls came close to these percentile limits. The preterm infants were significantly shorter than the term infants at 14 years.
Several copy number variants have been associated with neuropsychiatric disorders and these variants have been shown to also influence cognitive abilities in carriers unaffected by psychiatric disorders. Previously, we associated the 15q11.2(BP1-BP2) deletion with specific learning disabilities and a larger corpus callosum. Here we investigate, in a much larger sample, the effect of the 15q11.2(BP1-BP2) deletion on cognitive, structural and functional correlates of dyslexia and dyscalculia. We report that the deletion confers greatest risk of the combined phenotype of dyslexia and dyscalculia. We also show that the deletion associates with a smaller left fusiform gyrus. Moreover, tailored functional magnetic resonance imaging experiments using phonological lexical decision and multiplication verification tasks demonstrate altered activation in the left fusiform and the left angular gyri in carriers. Thus, by using convergent evidence from neuropsychological testing, and structural and functional neuroimaging, we show that the 15q11.2(BP1-BP2) deletion affects cognitive, structural and functional correlates of both dyslexia and dyscalculia.
We present a patient with progressive spastic ataxia, with dystonia and anarthria undiagnosed until detailed genetic analysis revealed an MPAN mutation. Highlighting the worldwide MPAN distribution, a 30year history of absent diagnosis and the impact and cost saving of an early but detailed genetic analysis in complex progressive movement disorders, particularly the anarthric NBIA group.
Recent research in the field of mental retardation has pointed to a better-defined population with exacting prevalence of the basic pathology and related disabilities. Advances in the areas of prevention and treatment have further reduced the prevalence and incidence of mental retardation. Current legislation and legislative procedures have led to a more equitable and fairer application of human rights to all citizens. However, discrepancies and ambiguities still remain with respect to interpretation of the spirit of the law as related to the retarded. Financial restraints and serious economic hardship have impacted on social and political attitudes and created two-tier systems of the rich and poor with the retarded referred to as "surplus population." This situation has, in turn, influenced the availability of resources, manpower, training, and research in this field. The future could be brighter if sociologic and philosophic changes parallel technologic advances. It is our duty and commitment to continue and further the developments in all spheres relevant to the retarded in order to maximize human potential whenever possible.
The article takes as its subject Gaute Heivoll's latest novel Over det kinesiske hav [Across the Chinese Ocean], which describes the establishment of a private nursing home at Finsland in Vest-Agder county immediately before the liberation. The novel's protagonist describes retrospectively how his parents adopted a number of mentally disabled persons, among them a group of siblings from Stavanger. When their adoptive family is exposed to a tragedy, views on who are the providers and receivers of care are challenged, as are concepts such as madness and normality. The article shows how a fictional exposée of conditions for the mentally disabled in recent Norwegian history can provide new perspectives on historic health and care practices. Reading Gaute Heivoll's Over det kinesiske hav highlights the practice of placing patients in private care, as well as the 1934 Act that authorised the sterilisation of mentally disabled persons.