Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

We sought to identify new susceptibility loci for Alzheimer's disease through a staged association study (GERAD+) and by testing suggestive loci reported by the Alzheimer's Disease Genetic Consortium (ADGC) in a companion paper. We undertook a combined analysis of four genome-wide association datasets (stage 1) and identified ten newly associated variants with P = 1 × 10(-5). We tested these variants for association in an independent sample (stage 2). Three SNPs at two loci replicated and showed evidence for association in a further sample (stage 3). Meta-analyses of all data provided compelling evidence that ABCA7 (rs3764650, meta P = 4.5 × 10(-17); including ADGC data, meta P = 5.0 × 10(-21)) and the MS4A gene cluster (rs610932, meta P = 1.8 × 10(-14); including ADGC data, meta P = 1.2 × 10(-16)) are new Alzheimer's disease susceptibility loci. We also found independent evidence for association for three loci reported by the ADGC, which, when combined, showed genome-wide significance: CD2AP (GERAD+, P = 8.0 × 10(-4); including ADGC data, meta P = 8.6 × 10(-9)), CD33 (GERAD+, P = 2.2 × 10(-4); including ADGC data, meta P = 1.6 × 10(-9)) and EPHA1 (GERAD+, P = 3.4 × 10(-4); including ADGC data, meta P = 6.0 × 10(-10)).

A function-based treatment package aiming at decreasing self-injurious behaviour and tantrums.

Self-injurious and aggressive behaviours have often been identified as the cause for students’ lack of academic progress, parental distress, health risks and teachers´ low satisfaction levels. Functional analysis has been identified in the research literature as the benchmark of effective treatments for disruptive and/or inappropriate behaviours. The present study was completed with a girl diagnosed with ASD. An experimental functional analysis was conducted identifying the function of self-injurious behaviours and tantrums to be escaping from tasks. A treatment package was consequently put in place integrating several components that aimed at reducing overall levels of inappropriate behaviours. Results showed a clear and meaningful improvement in the student´s overall health and academic progress, as well as in parental involvement, teachers’ satisfaction and school inclusion. These outcomes are discussed in the light of evidence-based experimental procedures based on applied behaviour analysis and more specifically on the functional-analytic literature, which, if put in place consistently, can bring valuable positive changes in the quality of life of individuals with ASD.