FOXP family of transcription factors in autism spectrum disorder in humans: a systematic review

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INTRODUCTION: Autism Spectrum Disorder (ASD) is a multifaceted neurodevelopmental condition characterized by challenges in social interactions and communication. This systematic review aims to evaluate the contributions of the FOXP family of transcription factors to ASD.EVIDENCE ACQUISITION: A thorough search was conducted across five databases: PubMed, Embase, PsycINFO, Scielo, and Web of Science. The search terms included combinations of “FOXP,” “FOXP2,” “FOXP4,” and “autism spectrum disorder,” with no restrictions on date or language. Two independent reviewers screened titles and abstracts followed by in-depth evaluations of selected studies. Inclusion criteria required studies to involve human subjects with ASD and examine FOXP genes. Data extraction utilized a standardized form, with one reviewer performing the extraction and another validating it.EVIDENCE SYNTHESIS: This search yielded 220 records, 27 underwent full-text review, resulting in 16 included studies. Significant findings highlighted a robust link between FOXP1 mutations and ASD, especially with severe language impairments, while FOXP2’s connection was less definitive. To date, no studies have explicitly linked FOXP4 with ASD.CONCLUSIONS: This review underscores the involvement of FOXP1 in ASD’s neurodevelopmental facets, particularly concerning language. Although FOXP2’s role is less direct, it remains vital for speech development, warranting further research into the FOXP family’s contributions to ASD.