Rare Genetic Variant Linked to Autism Spectrum Disorder in Adults

Researchers at Michigan State University College of Human Medicine have described a rare case of an adult with neurodevelopmental disorder and autism spectrum disorder caused by a pathogenic variant in the NCKAP1 gene. The study highlights the importance of addressing the needs of adults with autism and developmental disabilities, who often fall through the cracks in healthcare systems. The research suggests that there may be more adults with this condition than previously thought, as only 5 young adults with NCKAP1-related neurodevelopmental disorder have been described in the literature, and none in middle age or beyond.

Key Takeaways:

• The study describes a 43-year-old man with neurodevelopmental disorder and autism spectrum disorder due to a rare pathogenic variant in the NCKAP1 gene.
• The individual's symptoms included ASD, intellectual disability, speech-language problems, repetitive behaviors, and seizures.
• This is the first reported case of a middle-aged adult with NCKAP1-related neurodevelopmental disorder and autism spectrum disorder.
• The study highlights the importance of awareness and diagnosis of NCKAP1-related neurodevelopmental disorder in adults.
• Research suggests that there may be a lack of awareness and understanding of adult manifestations of autism and developmental disabilities, which can lead to delayed diagnosis and inadequate treatment.
• The study emphasizes the need for healthcare systems to address the needs of adults with autism and developmental disabilities.

Statistics:

• Only 5 young adults with NCKAP1-related neurodevelopmental disorder have been described in the literature.
• None of the previous reports have included adults with this condition in middle age or beyond.
• The individual in the study had intellectual disability, which affects approximately 1-3% of the population.
• Speech-language problems are a common symptom of autism spectrum disorder, affecting approximately 50-70% of individuals with autism.

Sources:

• "Case Report: An adult with NCKAP1-related neurodevelopmental disorder and autism spectrum disorder." Frontiers in Psychiatry, 2025,16. (Frontiers in Psychiatry - http://frontiersin.org/psychiatry)
• NewsRx. Studies from Michigan State University College of Human Medicine in the Area of Autism Spectrum Disorders Published (Case Report: An adult with NCKAP1-related neurodevelopmental disorder and autism spectrum disorder). Mental Health Weekly Digest. June 23, 2025; p 503.