Case Report: An Adult with NCKAP1-Related Neurodevelopmental Disorder and Autism Spectrum Disorder
Document Type
Conference Proceeding - Restricted Access
Publication Date
5-9-2025
Abstract
We report the case of a 41-year-old patient with neurodevelopmental disorder (NDD) with features of autism spectrum disorder (ASD) due to a rare pathogenic variant in the NCKAP1 gene. The most common clinical characteristics of NCKAP-1 related NDD include ASD, intellectual disability (ID), ADHD, childhood motor delay, speech-language problems, repetitive behaviors, and seizures. There are 36 reported cases of NCKAP1 gene variants associated with ASD. However, the majority of these cases are in children and adolescents; only 5 are adults, and they are from ages 20-23. This 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.
Recommended Citation
Jain A, VanSickle E, Zitano L, Moss T, Schrader E. Case report: an adult with NCKAP1-related neurodevelopmental disorder and autism spectrum disorder. Presented at: Research Day Corewell Health West; 2025 May 9; Grand Rapids, MI.
Comments
2025 Research Day Corewell Health West, Grand Rapids, MI, May 9, 2025. Abstract 1827