AUTHOR=Jain Aruna , VanSickle Elizabeth , Zitano Lia , Moss Timothy , Schrader Erica 

TITLE=Case Report: An adult with NCKAP1-related neurodevelopmental disorder and autism spectrum disorder

JOURNAL=Frontiers in Psychiatry

VOLUME=Volume 16 - 2025

YEAR=2025

URL=https://www.frontiersin.org/journals/psychiatry/articles/10.3389/fpsyt.2025.1532982

DOI=10.3389/fpsyt.2025.1532982

ISSN=1664-0640

ABSTRACT=IntroductionWe describe a 43-year-old man with neurodevelopmental disorder (NDD) with features of autism spectrum disorder (ASD) due to a rare pathogenic variant in the NCKAP1 gene. There are only 5 young adults described in the literature with NCKAP1-related NDD; there are currently no reports of middle-aged or elderly adults with the condition. The most common clinical characteristics include ASD, intellectual disability (ID), speech-language problems, repetitive behaviors, and seizures.ConclusionThis case report highlights an adult phenotype of NCKAP1-related NDD with goals to 1.) contribute insight into a rare genetic variant leading to NDD with ASD features and 2.) highlight adult manifestations of NCKAP1-related NDD as a patient in middle adulthood with the condition has not yet been reported.