complex neurodevelopmental disorder

Complex neurodevelopmental disorder is a condition that affects the central nervous system and manifests with a range of neurodevelopmental challenges. It is associated with genetic variants in GRIA2, SETBP1, and DHX30, which play important roles in brain signaling and regulation. The disorder typically presents in early childhood with features such as intellectual disability, autism, and seizures. Although precise prevalence data are not available, the condition is considered to be uncommon and outcomes vary widely among those affected.

Individuals with complex neurodevelopmental disorder may experience a variety of challenges including difficulties with learning, social interaction, and communication, along with episodes of seizures. Symptoms such as intellectual disability and behaviors on the autism spectrum are frequently observed, and many children may have co-occurring seizure disorders that require clinical attention. That not all individuals experience all features, and severity varies considerably among affected individuals.

The condition is linked to variants in several genes, specifically GRIA2, SETBP1, and DHX30. Disruptions in these genes are thought to interfere with normal brain development and neural signaling, contributing to the range of cognitive and behavioral symptoms observed in affected individuals. While a clear inheritance pattern has not been established due to the absence of detailed familial inheritance data, the identification of these genetic changes helps guide diagnostic evaluation and management. Genetic counseling is recommended to provide families with individualized insights regarding genetic testing and future family planning. Associated genes include GRIA2, SETBP1, DHX30.