Abstract

Chromosomal microarray analysis (CMA) is typically performed for investigation of autism using blood DNA. However, blood collection poses significant challenges for autistic children with repetitive behaviors and sensory and communication issues, often necessitating physical restraint or sedation. Noninvasive saliva collection offers an alternative, however, no published studies to date have evaluated saliva DNA for CMA in autism. Furthermore, previous reports suggest that saliva is suboptimal for detecting copy number variation. We therefore aimed to evaluate saliva DNA for single nucleotide polymorphism (SNP) CMA in autistic children.

Saliva DNA from 48 probands and parents (n = 133) was obtained with a mean concentration of 141.7 ng/μL. SNP CMA was successful in 131/133 (98.5%) patients from which we correlated the size and accuracy of a copy number variant(s) called between a proband and carrier parent, and for a subgroup (n = 17 probands) who had a previous CMA using blood sample. There were no discordant copy number variant results between the proband and carrier parent, or the subgroup, however, there was an acceptable mean size difference of 0.009 and 0.07 Mb, respectively. Our findings demonstrate that saliva DNA can be an alternative for SNP CMA in autism, which avoids blood collection with significant implications for clinical practice guidelines.

Citation

Wright, D. C., Baluyot, M. L., Carmichael, J., Darmanian, A., Jose, N., Ngo, C., Heaps, L. S., Yendle, A., Holman, K., Ziso, S., Khan, F., Masi, A., Silove, N., & Eapen, V. (2023). Saliva DNA: An alternative biospecimen for single nucleotide polymorphism chromosomal microarray analysis in autism. American Journal of Medical Genetics Part A, 191(12), 2913–2920. https://doi.org/10.1002/ajmg.a.63400