Project to investigate improving literacy and numeracy outcomes of distance education students in the early years of schooling

The project was commissioned to investigate and analyse the issue of effective support for distance education students in the early years of school to maximise literacy and numeracy outcomes. The scope of this project was limited to students living in rural and remote areas who are undertaking education at home and who are in their early years of schooling. For the purpose of this project, the early years are conceptualised as the first three years of formal compulsory schooling in each of the States and Territories. There were a number of key tasks for the project which included: 1. Examining of the role of home tutors/supervisors This included interviewing personnel from the State and Territory distance education providers as well as the principals, teachers, home tutors and children. 2. Describing literacy and numeracy teaching and learning, and the use of information and communication technologies (ICT) in distance education This aspect of the project involved a critical review and analysis of relevant literature and reports in the last five years, and a consideration of the new initiatives that had been implemented in the States and Territories in the last two years. 3. The development of resources Through examination of the role of home tutors/supervisors, and an examination of literacy and numeracy and the use of technology in distance education, three resources were developed: ● A guide for home tutors/supervisors and schools of distance education about effective intervention and assessment strategies to support students’ learning and to assist the home tutors/supervisors in implementing ICT to support the development of literacy and numeracy in the early years. ● A calendar of activities for literacy and numeracy that would act as a stimulus for integrated and authentic activity for young children. ● An embryonic website of resources for the stakeholders in rural and distance education that might act as a catalyst for future resource building and sharing. In this way the final key task of the project, which was to create a context for a strategic dissemination plan, was realised when a strategy to address effective dissemination of the findings of the project so as to maximise their usefulness for the relevant groups was achieved.

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

Clinical data from 50 mentally retarded (MR) males in nine X-linked MR families, syndromic and non-specific, with mutations (duplication, expansion, missense, and deletion mutations) in the Aristaless related homeobox gene, ARX, were analysed. Seizures were observed with all mutations and occurred in 29 patients, including one family with a novel myoclonic epilepsy syndrome associated with the missense mutation. Seventeen patients had infantile spasms. Other phenotypes included mild to moderate MR alone, or with combinations of dystonia, ataxia or autism. These data suggest that mutations in the ARX gene are important causes of MR, often associated with diverse neurological manifestations. (C) 2002 Elsevier Science B.V. All rights reserved.

Sodium channel alpha 1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms

Background: Mutations in SCN1A, the gene encoding the alpha1 subunit of the sodium channel, have been found in severe myoclonic epilepsy of infancy (SMEI) and generalized epilepsy with febrile seizures plus (GEFS(+)). Mutations in SMEI include missense, nonsense, and frameshift mutations more commonly arising de novo in affected patients. This finding is difficult to reconcile with the family history of GEFS(+) in a significant proportion of patients with SMEI Infantile spasms (IS), or West syndrome, is a severe epileptic encephalopathy that is usually symptomatic. In some cases, no etiology is found and there is a family history of epilepsy. Method: The authors screened SCN1A in 24 patients with SMEI and 23 with IS. Results: Mutations were found in 8 of 24 (33%) SMEI patients, a frequency much lower than initial reports from Europe and Japan. One mutation near the carboxy terminus was identified in an IS patient. A family history of seizures was found in 17 of 24 patients with SMEI. Conclusions: The rate of SCN1A mutations in this cohort of SMEI patients suggests that other factors may be important in SMEI. Less severe mutations associated with GEFS(+) could interact with other loci to cause SMEI in cases with a family history of GEFS(+). This study extends the phenotypic heterogeneity of mutations in SCN1A to include IS.