AUTS2 - A journey of discovery

Years of SEND-related challenges, assessments, and unanswered questions began to make sense following our genetic diagnosis in Oxford. This image is from Genetics in Oxford, where our results were first explained to me by Dr Edward Blair, Consultant Clinical Geneticist and member of the NHS 100,000 Genomes Project. During that consultation, I was informed that our family’s genetic condition is rare, with a 50% chance of inheritance, and that genetic counselling would be recommended for affected family members. This marked a shift from uncertainty toward clinical understanding. Prior to this, I had spent several years navigating SEND processes, EHCPs, and paediatric services, often advocating without a clear unifying diagnosis. The identification of a genetic cause helped bring coherence to a complex and previously fragmented clinical picture. We were subsequently referred to Simons Searchlight, which provided an important opportunity to connect with other families affected by rare genetic conditions. Since diagnosis, I have engaged extensively with the available literature and emerging research in this field. One of the ongoing challenges in rare disease genomics is that the evidence base continues to evolve, and interpretation may change over time. This can make it difficult for both families and professionals to distinguish between established findings and emerging data. While many genetic conditions benefit from established clinical guidance and professional awareness, AUTS2-related conditions remain comparatively less well recognised. This can contribute to variability in understanding across healthcare, education, and support systems. Registry data from Simons Searchlight (April 2026) indicates AUTS2-related conditions may be associated with a broad neurodevelopmental profile, including developmental delay, intellectual disability, autism spectrum traits, ADHD, speech and language impairment, anxiety, and neurological differences. Clinical presentation is highly variable. Within my own family, neurodevelopmental and behavioural needs include autism, ADHD, Tourette’s, dyspraxia, learning differences, and associated complexities in daily functioning, alongside additional health conditions. This highlights the importance of recognising the intersection between genomic findings, neurodevelopmental presentation, and real-world support needs. It also raises broader questions about how rare genetic conditions are understood within SEND and healthcare systems. For me, this reinforces the importance of integrating three key perspectives: * Genomic and clinical research * Lived experience from families * Practical application within education and healthcare systems I am sharing this to contribute to wider professional understanding and to support improved alignment between research, diagnosis, and support pathways. Anne-Marie Willis https://www.linkedin.com/in/anne-marie-willis-820414415/?skipRedirect=true