Human Blood-Derived lncRNAs in Autism Spectrum Disorder.

Researchers are studying molecules in blood called lncRNAs that might help diagnose autism earlier. Currently, autism diagnosis relies on observing behaviors around age 3. Blood tests could potentially identify autism sooner. However, this research is still very new and needs more studies with larger groups of children to prove these blood markers actually work for early diagnosis.

This review examines blood-derived long non-coding RNAs (lncRNAs) as potential biomarkers for autism spectrum disorder (ASD). The authors summarized studies investigating dysregulated lncRNAs in blood samples from individuals with ASD, categorizing them by selection strategy: those involved in ASD-related biological processes and those identified through high-throughput screening. The review highlights the need for future research to validate these biomarkers in larger, younger populations and assess their specificity compared to other neurological conditions. The authors emphasize integrating multiple data sources to establish validated biomarker networks for clinical use, noting that research in this area remains in early stages.

Blood-based lncRNA biomarkers could potentially enable earlier ASD diagnosis before age 3, when current behavioral assessments typically occur. However, extensive validation in larger, younger populations is needed before clinical implementation. Specificity testing against other neurological conditions is essential.

Review notes research is in early stages. Studies need larger sample sizes, younger cohorts for early-life validation, and assessment of specificity versus other neurological disorders. Integration of multiple data sources required for clinical application.

Autism spectrum disorder (ASD) is a complex and heterogeneous neurodevelopmental disorder with a significant impact on public health. ASD diagnosis is based on clinical observation and typically occurs around three years of age. The identification of reliable ASD markers could facilitate early diagnosis and help pinpoint therapeutic targets for effective interventions. Long non-coding RNAs (lncRNAs), particularly those derived from blood, have been recently proposed as potential biomarkers in many pathological conditions, including neurological diseases.

This manuscript summarizes original studies examining human dysregulated blood-derived lncRNAs as potential ASD biomarkers. LncRNAs are described by grouping them according to the selection strategy used by the authors: (i) lncRNAs involved in biological processes impaired in ASD or in pathological conditions sharing the disrupted signaling pathways of ASD; and (ii) lncRNAs identified through high-throughput analysis. The study highlights key priorities for future research: assessing the ability of lncRNAs to distinguish ASD from other neurological disorders, extending analyses to larger and younger cohorts to validate candidate biomarkers in early life, and integrating multiple data sources to establish validated biomarker networks for clinical application. This review indicates that research on blood-derived lncRNAs in ASD is still in its early stages.