Landscape of NRXN1 Gene Variants in Phenotypic Manifestations of Autism Spectrum Disorder: A Systematic Review.

Background: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by social communication challenges and repetitive behaviors. Recent research has increasingly focused on the genetic underpinnings of ASD, with the Neurexin 1 (NRXN1) gene emerging as a key player. This comprehensive systematic review elucidates the contribution of NRXN1 gene variants in the pathophysiology of ASD. Methods: The protocol for this systematic review was designed a priori and was registered in the PROSPERO database (CRD42023450418). A risk of bias analysis was conducted using the Joanna Briggs Institute (JBI) critical appraisal tool. We examined various studies that link NRXN1 gene disruptions with ASD, discussing both the genotypic variability and the resulting phenotypic expressions. Results: Within this review, there was marked heterogeneity observed in ASD genotypic and phenotypic manifestations among individuals with NRXN1 mutations. The presence of NRXN1 mutations in this population emphasizes the gene's role in synaptic function and neural connectivity. Conclusion: This review not only highlights the role of NRXN1 in the pathophysiology of ASD but also highlights the need for further research to unravel the complex genetic underpinnings of the disorder. A better knowledge about the multifaceted role of NRXN1 in ASD can provide crucial insights into the neurobiological foundations of autism and pave the way for novel therapeutic strategies.

Epilepsy, employment and the disability discrimination act. Does legislation make a difference?

The Disability Discrimination Act 1995 confers limited but significant rights on people with disabilities in the United Kingdom. In this article we focus on the protection that the Act offers to people with epilepsy in the sphere of employment. We examine the exempt categories of employment and the extent to which epilepsy qualifies as a disability for statutory purposes. We go on to explore the impact of the new law on the recruitment and employment experience of people with epilepsy. The shortcomings of the legislation are highlighted and improvements, which would benefit people with epilepsy, are recommended. Claims featuring epilepsy, brought under the Act, are analysed to illustrate how the legislation is being interpreted and applied.