Language development in FOXP1 syndrome: a systematic review

Le résumé fourni par la source

FOXP1 syndrome is a rare neurodevelopmental disorder caused by deletions or variants in the FOXP1 gene. Individuals with FOXP1 syndrome present with various clinical manifestations, including global developmental delay, intellectual disability (ID), autism spectrum disorder and language impairments. The aim of this systematic review is to analyze language development in individuals with FOXP1 syndrome. The inclusion criteria were studies that (a) reported human participants diagnosed with FOXP1 syndrome, (b) included language assessment or clinical description, and (c) were published in English or Spanish. A total of 25 studies were included. Findings revealed a broad heterogeneity in language profiles with a general trend towards delayed expressive and receptive language development. Some discrepancies in expressive and receptive language performance were noted, potentially related to specific FOXP1 gene variants. This review also highlighted significant limitations in the assessment methods, scarce samples and a lack of standardized assessment approaches. This research underscored the need for a multidisciplinary approach to assess and treat language deficits in FOXP1 syndrome, as well as for longitudinal studies to deepen understanding and inform therapeutic interventions.

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