STXBP1 -associated neurodevelopmental disorder: a comparative study of behavioural characteristics

ConclusionsDe novo mutations inSTXBP1 are associated with complex and variable neurodevelopmental impairments. Consistent features, which discriminate this disorder from other monogenic causes of ID, are severe language impairment and difficulties managing social interactions, despite strong social motivation. Future work could explore the physiological mechanisms linking motor, speech, and social development in this disorder. Understanding the developmental emergence of behavioural characteristics can help to focus clinical assessment and management after genetic diagnosis, with the long-term aim of improving outcomes for patients and families.
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research