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    A frameshift-deletion mutation in Reelin causes cerebellar hypoplasia in White Swiss Shepherd dogs
    (John Wiley & Sons Ltd on behalf of Stichting International Foundation for Animal Genetics, 2023-10) Littlejohn MD; Sneddon N; Dittmer K; Keehan M; Stephen M; Drögemüller M; Garrick D
    Cerebellar hypoplasia is a heterogeneous neurological condition in which the cerebellum is smaller than usual or not completely developed. The condition can have genetic origins, with Mendelian-effect mutations described in several mammalian species. Here, we describe a genetic investigation of cerebellar hypoplasia in White Swiss Shepherd dogs, where two affected puppies were identified from a litter with a recent common ancestor on both sides of their pedigree. Whole genome sequencing was conducted for 10 dogs in this family, and filtering of these data based on a recessive transmission hypothesis highlighted five protein-altering candidate variants - including a frameshift-deletion of the Reelin (RELN) gene (p.Val947*). Given the status of RELN as a gene responsible for cerebellar hypoplasia in humans, sheep and mice, these data strongly suggest the loss-of-function variant as underlying these effects. This variant has not been found in other dog breeds nor in a cohort of European White Swiss Shepherds, suggesting a recent mutation event. This finding will support the genotyping of a more diverse sample of dogs, and should aid future management of the harmful allele through optimised mating schemes.
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    A comparison of reading attainment in two first grade classes in a state and a Montessori school in Switzerland : a thesis presented in partial fulfilment of the requirements for the degree of Master's degree in Educational Psychology (MEdPsych) at Massey University, Auckland, New Zealand
    (Massey University, 2015) Elben, Judith Mary
    The main purpose of this study is to examine whether the age at which children start to learn to read affects their later progress - specifically, whether an earlier start at reading gives children an advantage when they enter first grade at the age of six years. The study was conducted in Zürich, Switzerland, and compared a first grade class in a local school with two first grade classes in a Montessori school. There were 42 participants aged between six and seven years, 22 girls and 20 boys. The children were given a series of alphabet knowledge, reading and phoneme tests at the beginning and end of the year to measure the reading progress of each group. It was found that although the Montessori children who had already attended the Montessori kindergarten had an advantage over the local children, this advantage was only significant for alphabet knowledge, and was not translated into a significant advantage in either phonemic awareness or reading ability. Reasons for this were considered including the relative efficiency with which children learned to read in German at the local school, possible failings in the Montessori instruction, and the fact that many of the local children had already learned to read at home before starting school something that may be related to the high socioeconomic status (SES) and home literacy environment (HLE) of both groups.