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Autism-like features and FOXP1 syndrome: A scoping review.

Jayme Stewart¹, Gloria Hyun Young Cho¹

¹The University of British Columbia (Psychology Department), Kelowna, British Columbia, Canada.

Brain & Development

|March 18, 2025

Summary

FOXP1 syndrome frequently presents with autism spectrum disorder (ASD) and related symptoms, particularly repetitive behaviors. Standardized assessments are needed to improve diagnosis and care for individuals with FOXP1 syndrome.

Keywords:

ASD Autism Autism-like features FOXP1 syndrome Neurodevelopmental disorders

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Area of Science:

Neurodevelopmental Disorders
Autism Spectrum Disorder Research
Genetics and Rare Diseases

Background:

FOXP1 syndrome is a rare genetic disorder impacting neurodevelopment.
It is associated with cognitive, behavioral, and physical challenges.
Autism spectrum disorder (ASD) and related symptoms are common in FOXP1 syndrome.

Purpose of the Study:

To review the prevalence and characteristics of ASD and autism-like features in FOXP1 syndrome.
To synthesize current research on the intersection of FOXP1 syndrome and ASD symptomatology.

Main Methods:

Conducted a comprehensive scoping literature review.
Included 15 studies with a total of 103 participants.
Analyzed data on ASD diagnosis and specific symptom presentation.

Main Results:

ASD was diagnosed in 39% of individuals with FOXP1 syndrome.
Repetitive and restrictive behaviors were the most common feature (89%).
Significant heterogeneity in studies limited direct comparisons and may have underestimated symptoms.

Conclusions:

FOXP1 syndrome is strongly associated with ASD features, especially repetitive behaviors.
Methodological inconsistencies hinder accurate prevalence estimation and understanding.
Standardized assessments are crucial for improved diagnosis and targeted interventions in FOXP1 syndrome.