Assessment of children in the autistic spectrum disorder that carry the Thr92Ala-DIO2 polymorphism

Author(s)

Marcondes, A. A. E. ^[1] ; Gomez, T. G. B. ^[1] ; Ravache, T. T. ^[1] ; Batistuzzo, A. ^[1] ; Lorena, F. B. ^{[2, 1]} ; de Paula, C. S. ^[1] ; Lowenthal, R. ^[3] ; Bianco, A. C. ^[4] ; Ribeiro, M. O. ^[1]

Affiliation

^[1] Univ Prebiteriana Mackenzie, Ctr Biol Sci & Hlth, CCBS, Dev Disorders Program, Rua Consolacao, 930 Bld 28, BR-01302907 Sao Paulo, SP - Brazil

^[2] Univ Fed Sao Paulo, Sao Paulo - Brazil

^[3] Santa Casa Sao Paulo Sch Med Sci, Sao Paulo - Brazil

^[4] Univ Chicago, Dept Med, Sect Endocrinol Diabet & Metab, 5841 S Maryland Ave, Chicago, IL 60637 - USA

• Document type: Journal article
• Source: Journal of Endocrinological Investigation; v. 44, n. 8, p. 1775-1782, AUG 2021.
• Web of Science Citations: 0

Abstract

Introduction A polymorphism in the type 2 deiodinase (Thr92Ala-DIO2) gene has been associated with behavioral and cognitive dysfunction as well as neurodegeneration and oxidative stress in the central nervous system. Objective To test whether the minor allele (Ala92) frequency (MAF) is increased in children in the autism spectrum disorder (ASD), and whether carriers of the minor allele exhibit more severe symptoms and/or worse adaptive behavior. Study design ASD children were evaluated at baseline and yearly throughout the study by psychologists using the following tools: autism behavior checklist, Vineland Adaptative Behaviour Scales II, non-verbal intelligence test SON-R 2(1/2)-7, SON-R 6-40, Weschler scale for intelligence, and autism treatment evaluation checklist. Settings Academic outpatient mental health facility in Sao Paulo, Brazil. Participants ASD boys and girls younger than 18 years of age. 132 consecutive ASD children, mostly boys (similar to 80%); similar to 50% was classified as verbal. Exclusion criteria were coexistence of sensory and/or physical impairment, or any associated genetic syndromes. Results Median follow-up was for an uninterrupted period of 937 days (139-1375 days), which did not vary significantly among the genotypes. The MAF was 47% in ASD patients vs. 51% in a local reference population with similar ethnic background; the clinical severity and progression were not affected by the minor allele. Carriers of the minor allele exhibited higher adaptive behavior in the domains ``daily living skills{''} and ``communication{''}, which correlated positively with the dose of the minor allele. Conclusion The MAF is not different in ASD children, but carriers of the Thr92Ala-DIO2 polymorphism exhibited higher adaptive behavior. (AU)

• FAPESP's process: 17/24615-5 - Breaking a paradigm? Melanopsin, a canonical photo-pigment, acting as sensor to entrain the clock in light unexposed organs, and its putative interaction with TRP channels: a trans-disciplinary study involving physiological and pathological aspects
• Grantee: Ana Maria de Lauro Castrucci
• Support Opportunities: Research Projects - Thematic Grants