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Body-Focused Repetitive Behaviors in Patients with FOXP1 Syndrome: An International Cross-Sectional Survey-Based
Kaya L Curtis1, Shari R Lipner2
1Weill Cornell Medical College, New York, NY, USA.
Skin Appendage Disorders
|June 5, 2024
Summary
Body-focused repetitive behaviors (BFRBs) are common in FOXP1 syndrome, impacting patient quality of life. This study found high prevalence rates for conditions like excoriation disorder and onychophagia in affected individuals.
Area of Science:
- Neurodevelopmental Disorders
- Genetics
- Behavioral Science
Background:
- FOXP1 syndrome is a rare genetic disorder linked to intellectual disability, dysmorphic features, and autism spectrum disorder.
- Body-focused repetitive behaviors (BFRBs) are a group of disorders characterized by repetitive self-grooming behaviors.
Purpose of the Study:
- To determine the prevalence of BFRBs in individuals with FOXP1 syndrome.
- To assess the severity of BFRBs in this patient population.
Main Methods:
- A cross-sectional, survey-based study was conducted.
- A validated survey for BFRBs was administered to parents of individuals with FOXP1 syndrome at a conference and via a listserv.
Main Results:
- High prevalence rates for specific BFRBs were observed: excoriation disorder (58.6%), onychophagia (38.6%), onychotillomania (29.7%), and trichotillomania (10.0%).
- A significant proportion of subjects experienced moderate to severe BFRBs.
- Many individuals presented with multiple BFRBs.
Conclusions:
- BFRBs are highly prevalent in the FOXP1 syndrome population.
- These behaviors significantly affect the quality of life for patients and their families.
- Further research and clinical attention are warranted for BFRBs in FOXP1 syndrome.

