A guide to indicators for the evaluation of specialist autism centres, based on the quality-of-life model.

The evaluation of individual and organizational quality of life through the Guide to Quality-of-Life Indicators and its promotion in English-speaking areas. This guide was initially designed for people living with Autism Spectrum Disorder in specialist autism centers in Spanish and Italian-speaking areas where its effectiveness has been validated. The Delphi technique is applied to the design of a qualitative investigation, with expert validation for the adaptation to English-speaking areas.

Association between GABA(A) receptor subunit polymorphisms and autism spectrum disorder (ASD).

ASD might be associated with alterations in excitation/inhibition ratio and GABA(A) has been implicated since it mediates synaptic inhibition. Polymorphisms in GABA receptor (GABAR) were studied: significant differences in allele and genotype frequencies observed between cases and controls (rs1912960, GABRA4). Haplotype analysis: rs1912960 (GABRA4) and rs211037 (GABRG2) overrepresented in cases.

Evidence for interaction between markers in GABA(A) receptor subunit genes in an Argentinean autism spectrum disorder population.

Autism spectrum disorders (ASD) can be conceptualized as a genetic dysfunction that disrupts development and function of brain circuits mediating social cognition and language. At least some forms of ASD may be associated with high level of excitation in neural circuits, and gamma-aminobutyric acid (GABA) has been implicated in its etiology. Single-nucleotide polymorphisms (SNP) located within the GABA receptor (GABAR) subunit genes GABRA1, GABRG2, GABRB3, and GABRD were screened.