On Monday, 30 June, at 15:00 in an open meeting of the Medical Promotion Council of Rīga Stradiņš University that will take place in the Hippocrates lecture theatre (16 Dzirciema Street, Rīga), Daiga Bauze will defend her doctoral thesis “Genetic Aspect of Autism Spectrum Disorders”.
Autism spectrum disorders (ASD) are widespread early mental health disorders in children that might serve as a cause for severe disability. ASD heredity model is complex and might be related to both external and genetic factors.
The aim of the study is to find the development of the genetic risk factors in non-syndromic autism, as well as to examine the clinical data, anthropometric measurements, molecular genetics data analysis, the characteristic phenotype of the patients and to evaluate drug therapy options with the pharmacogenetics method.
The author of the research has created ASD representative sample with data on early physical condition and psychological development of ASD patients, development of ASD, family anamnesis, developed phenotypic and anthropometric database and analysed anthropometric parameters. The author took chromosome 11q22.3, 11p13, 11p15.4 and 15q13.3-15.3-14 loci of genetic markers for autism spectrum disorder patients and the control group in order to find an association to autism spectrum disorders, evaluated the choice of drug and non-drug treatment, evaluated the efficiency and side effects of the second generation antipsychotic medicine Risperidone. In conformity with autosomal dominant heredity type model, the author has chosen a family with Asperger's syndrome in two generations and completed exome sequencing for three family members to find the possible candidate genes of ASD that might be involved in the ASD aetiology.
Data of the study are unique because it is the first ASD study in Latvia. The author has developed practical recommendations to family physicians, paediatricians, paediatric neurologists and psychologists for early ASD diagnostics.