Immunology and Genetics of Autism Spectrum Disorders and Retrospective Evaluation of Clinical Responses to Regular Immunoglobulin Replacement Therapy

Background: The results of the studies on the aetiology, pathogenesis, and treatment recommendations of Autism Spectrum Disorder (ASD) in different age groups are limited. We analysed ASD patients immunogenetically and analysed the effects of regular intravenous immunoglobulin (IVIG) treatment on their quality of life and clinical improvement. Methods: Information about ۹۶ patients was obtained from hospital system records and patient files. Results: Seventy-seven patients were male (M/F-۳.۴/۱; p=۰.۰۰۱). In lymphocyte subsets of the patients, mean gamma-delta (γδ) T cell percentages were high, whereas mean naive CD۸ T cell percentages were low in all age groups. Parents of ۵۱ patients completed the quality of life questionnaire. The mean score was ۴۱ (±۱۰.۲۶) before IVIG and ۷۲.۶۷ (±۹.۷۹) after IVIG. They were significantly different (p=۰.۰۰۱), and the effect size was 𝑡 = -۲۳.۰۰۱. Whole Exome Sequencing (WES) analysis was performed in ۲۱ of ۵۱ patients, and ۲۷ mutations were associated with ASD. Conclusions: Regular IVIG treatment significantly improved ASD symptoms and family quality of life.

Keywords:

Autism spectrum disorder , intravenous immunoglobulin , quality of life in autism , Immunology , Genetic