Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2.

Area of Science:

• Genetics
• Neurodevelopmental Disorders
• Speech and Language Pathology

Background:

• FOXP2 gene variants are linked to speech and language disorders.
• The phenotype of 7q31 deletions, which can encompass FOXP2, is less understood.
• 7q31 deletions present a distinct clinical picture compared to intragenic FOXP2 variants.

Purpose of the Study:

• To characterize the phenotype of individuals with 7q31 deletions.
• To investigate the relationship between deletion size and speech/language outcomes.
• To identify associated developmental and medical comorbidities.

Main Methods:

• Phenotypic characterization of eight individuals with 7q31 deletions (6.8-15.2 Mb).
• Assessment of speech, language, motor, cognitive, and daily living skills.
• Review of medical history for comorbidities and therapies.

Main Results:

• All participants exhibited delayed speech and language milestones.
• Larger deletions correlated with more severe speech and language deficits (p<0.05).
• Childhood apraxia of speech was present in all verbal individuals; oral/written language impairment was universal. Associated issues included feeding difficulties, sleep disturbances, brain abnormalities, and autism spectrum disorder.
• Augmentative and alternative communication (AAC) was utilized by most participants.

Conclusions:

• 7q31 deletions result in a spectrum of speech and language disorders, distinct from FOXP2-related disorders.
• Early, individualized speech therapy, literacy, and AAC interventions are essential.
• Comprehensive allied health support is necessary for managing associated developmental and medical challenges.