Autism-like features and FOXP1 syndrome: A scoping review

Abstract

FOXP1 syndrome is a rare neurodevelopmental disorder associated with a range of cognitive, behavioural, and physical consequences, including autism spectrum disorder and associated symptomatology. This scoping review aims to explore the prevalence and characteristics of autism and autism-like features in individuals with FOXP1 syndrome. A comprehensive literature search identified 15 studies encompassing 103 participants. Of these, 13 studies (n = 76 participants) detailed autism spectrum disorder diagnostic information, and 13 studies (n = 37 participants) detailed information at the symptom level. Autism spectrum disorder was diagnosed in 39 % (n = 30) of cases, with repetitive and restrictive behaviours being the most commonly reported feature, observed in 89 % (n = 33) of patients. However, significant heterogeneity in study methodologies and diagnostic criteria prevented direct comparisons and may have led to an underestimation of certain symptoms. Additionally, inconsistencies in symptom reporting across studies further limited the accuracy of conclusions. Overall, findings highlight the need for more standardized and detailed assessments of autism-like features in FOXP1 syndrome to improve differential diagnosis and inform targeted intervention strategies. Future research should address these gaps to enhance understanding and clinical management of individuals with FOXP1 syndrome.