Vol. 7, Issue 1, Part A (2025)

Background: Autism Spectrum Disorder (ASD) affects around 1% of the population, mainly males, and is marked by social communication challenges and repetitive behaviors. Genetic factors and early environmental influences play significant roles in its development, and early interventions improve outcomes. Recent research has linked mutations in the INTS11 and ATAD3 genes to various neurodevelopmental disorders. This case examines how uncommon gene mutations may influence ASD to deepen our understanding of its causes.

Case Presentation: A 13-year-old school-going girl presented to the clinic with complaints of restlessness, terrible tantrums, no social interaction, laughing episodes and having a hard time with her behavioral issues and academics. Genetic testing results indicate mutations in INST11 and ATAD3A.

Conclusion: The genetic basis of Autism Spectrum Disorder (ASD) involves diverse variants and is strongly heritable. Mutations in INTS11 are associated with severe neurodevelopmental issues, underlining its crucial role in human development. This case highlights the significance of genomic mutations, particularly INTS 11 and ATAD3A, in ASD. INTS11 is vital for the Integrator complex, regulating RNA polymerase II termination, while ATAD3 is involved in mitochondrial protein production. Understanding these complex genetic mechanisms is essential, and further research is needed to fully interpret the impact of these mutations on ASD and its varied presentations.