Mats Eriksson's thesis is now published and entitled "Autism Spectrum Disorders – Genetic and Neurodevelopmental Aspects in Children with Early Diagnosis"
The overall aim was to describe the broad variability in neurodevelopmental profiles in a population-based group of preschool children with autism spectrum disorders (ASD) and to relate these findings to co-existing genetic conditions and other medical disorders. 208 children (age 20-54 months) were assessed with regard to neurodevelopmental characteristics, before and after intervention, and were recommended genetic testing. Data concerning parental neuropsychiatric conditions were also collected.
The first study set up base-line data for a 2-year follow-up regarding outcome based on adaptive functions. Intellectual disability and developmental delay were found in a large proportion as well as hyperactivity.
In the second study, prenatal risk factors were studied in the group of children with early-diagnosed ASD and the data were contrasted to the general population. Fathers of children with ASD were older and parents more often of non-European origin. Mothers of children with ASD had an increased rate of antidepressant and psychoactive medication use, as well as of scheduled caesarean sections.
The third study reported medical information and results from genetic analyses. All children had received early intervention, intensive or non-intensive. Outcome at the two-year follow up was measured as change in adaptive function, according to Vineland composite score. A significant genetic or medical condition was found in 18%. Epilepsy prevalence was 8.6%. Children with a medical/genetic condition, including epilepsy, had been diagnosed with ASD at an earlier age than those without such conditions and the presence of a medical disorder correlated negatively with adaptive functioning outcome.
In the fourth study, 162 children were analysed with chromosomal micro-array analysis to detect Copy Number Variants (CNVs) associated as risk factors for autism. Pathogenic aberrations were detected in 8.6 %. CNVs were more frequent in children with congenital malformations or dysmorphic features as well as in children with intellectual disability in addition to ASD. Finally, we explored how parentally transmitted ASD associated CNVs related to neurodevelopmental and psychiatric conditions in the parents.