Introduction to the Special Section on the Genetics of Autism.
Six fresh genetic studies shift the autism story from brain lobes to scattered gene variants, giving BCBAs new family-history questions to guide assessment and teaching.
01Research in Context
What this study did
Konopka (2025) wrote an editorial that introduces six brand-new genetic studies. The editorial does not run a new experiment. It maps out how each study links tiny DNA differences to autism traits like late talking or big head size.
The six studies use unlike tools: some scan whole genomes, others zoom in on one gene. None use behavioral interventions.
What they found
The editorial finds no single gene causes autism. Instead, many small genetic hits add up. Some hits tie to language delay, others to brain overgrowth. The piece gives no numbers or effect sizes.
How this fits with other research
Yoder et al. (1981) argued autism stems from temporal-lobe damage. Konopka (2025) swaps that old brain-area story for a gene story. The new view keeps the biology but moves the locus from lobes to DNA.
Murray et al. (2005) say the core issue is narrow attention, not social lack. The 2025 genetics bundle does not test attention. The two views can live together: genes may set attention bandwidth, which then shapes social skills.
Murray et al. (2014) warn that using only diagnosed kids can shrink true symptom links. The six new genetic studies also start with kids who already have a label. Readers should remember the sample may hide looser gene-behavior ties in the wider population.
Why it matters
As a BCBA you can stop hunting for the one autism gene during intake. Instead, ask about family language delays or macrocephaly noted in medical charts. These genetic clues can guide you: a child with big head growth may need extra visual supports, while one with language-linked variants may benefit more from augmentative communication. The editorial keeps behavior analysts linked to the biology conversation without asking you to become geneticists.
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02At a glance
03Original abstract
Genetic contributions to the etiology of autism have long been recognized in autism research. However, many aspects of how genetic and genomic factors influence the development and progression of autism remain poorly understood and require further investigation. A wide range of approaches can be employed in this pursuit, including studies of human cohorts, model systems, and detailed mechanistic research at both cellular and organismal levels. To broaden the scope of studies published in Autism Research related to the genetics of autism, we issued a call for manuscripts to be included in a special issue. Here, we present six comprehensive studies that utilize diverse approaches to investigate the genetic mechanisms underlying autism. Two of these studies (Arutiunian et al. 2024; Hudac et al. 2024) focused primarily on human subjects. One of them (Hudac et al. 2024) examined visual and auditory attention in autistic individuals with monogenic forms of autism—carrying variants in either DYRK1A or SCN2A—using eye tracking and electroencephalography (EEG). They found distinct behavioral outcomes depending on the specific genetic variant. The other study (Arutiunian et al. 2024) investigated a separate cohort of autistic individuals with a particular single nucleotide polymorphism in CNTNAP2, identifying an association with language impairments. Three manuscripts (He et al. 2025; Nishizaki et al. 2025; Rojas et al. 2024) combined research in both human subjects and model systems. One study (He et al. 2025) discovered novel de novo variants in NAA15 associated with autism and conducted detailed studies in loss-of-function mouse models, revealing a role for NAA15 in early brain development. Another study (Nishizaki et al. 2025) identified new genes associated with autism spectrum disorder with disproportionate megalencephaly (ASD-DM) in human cohorts and explored the function of one of these genes, YTHDF2, in zebrafish models. Their findings showed changes in brain size and gene expression patterns consistent with the observed phenotypes. The third manuscript (Rojas et al. 2024) reported altered levels of mitochondrial DNA (mtDNA) in individuals with autism and used cell lines to investigate the role of specific genes involved in mtDNA replication, although no direct correlation was found between gene expression and mtDNA levels. Finally, one other report (Co et al. 2024) characterized the functional implications of a specific mouse genetic tool related to the high-confidence autism gene TBR1. They found that this mouse line, while originally designed for another purpose, inadvertently provides a valuable model for studying TBR1 dosage effects on brain development. Collectively, these studies highlight the diverse genetic approaches being used to advance our understanding of autism biology. The editorial team at Autism Research remains committed to expanding the scope of genetic research we publish and encourages researchers to submit their manuscripts for consideration. The author declares no conflicts of interest.
Autism research : official journal of the International Society for Autism Research, 2025 · doi:10.1002/aur.70064