An Overview of Psychopathological Manifestations in DDX3X Syndrome: A Narrative Review

Typical behavioral traits play a crucial role in the recognition of neurodevelopmental features in rare disorders, such as DDX3X syndrome. DDX3X syndrome is an X-linked genetic neurodevelopmental disorder and often presents with complex symptoms in the neurological, psychiatric, cardiological, ophthalmologic, and gastrointestinal domains, as well as structural brain abnormalities and preco-cious puberty. This overview study aims to review the psychopathological traits that are concurrent with DDX3X mutations. Although there are nearly 300 studies recorded in academic databases related to psychiatric comorbidities in this syndrome, it has been observed that most of these reports are at the case-report level, the number of cohort studies is quite low and there is only one review. A wide range of psychopathological manifestations is presented in patients with DDX3X syndrome, which may consist of but not limited to cognitive impairments, developmental delay, intellectual disability, language difficulties/delays, autistic traits, attention deficit-hyperactivity disorder, and conduct disor-ders. The complexity of neurodevelopmental issues in DDX3X syndrome highlights the requirement for a broader-based psychiatric screening, particularly for autism spectrum disorders.